• Principal Investigator
  • Male

Prof. dr. M.M.A.M. Mannens

Position: Professor
Main activities: Patient care, Research
Specialisation: Genome diagnostics i.p. epigenetics of disease
foto M.M.A.M. Mannens is one of the AMC Principal Investigators
Focus of research:

genome diagnostics i.p. epigenetics of disease

PubMed database           Mannens M M A M, Mannens H M A M, Mannens M, Mannens M A, Mannens M A M, Mannens M M, Mannens M A M M, Mannens M M A

AMC themes: Cardiovascular Diseases, Reproduction and development
Departments: Clinical Genetics
Chatzispyrou IA, Alders M, Guerrero-Castillo S, Zapata Perez R, Haagmans MA, Mouchiroud L, Koster J, Ofman R, Baas F, Waterham HR, Spelbrink JN, Auwerx J, Mannens MM, Houtkooper RH, Plomp AS, A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome. HUM MOL GENET 2017;26 (13):2541-2550 [PubMed]
Jansweijer JA , Nieuwhof K, Russo F, Hoorntje ET, Jongbloed JDH, Lekanne Deprez RH, Postma AV, Bronk M, van Rijsingen IAW, de Haij S, Biagini E, van Haelst PL, van Wijngaarden J, van den Berg MP, Wilde AAM, Mannens MMAM, de Boer RA, van Spaendonck-Zwarts KY, van Tintelen JP, Pinto YM, Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy. EUR J HEART FAIL 2017;19 (4):512-521 [PubMed]
Meeks KAC, Henneman P, Venema A, Burr T, Galbete C, Danquah I, Schulze MB, Mockenhaupt FP, Owusu-Dabo E, Rotimi CN, Addo J, Smeeth L, Bahendeka S, Spranger J, Mannens MMAM, Zafarmand MH, Agyemang C, Adeyemo A, An epigenome-wide association study in whole blood of measures of adiposity among Ghanaians: the RODAM study. CLIN EPIGENETICS 2017;9:103 [PubMed]
van de Meerakker JBA. Genetic aspects of congenital heart defects. S.l.: s.n.; 2017. 184p. ISBN 978-94-6299-754-7 [UvA Dissertations Online] Proefschrift Universiteit van Amsterdam. (Promotor(s): Moorman AFM; copromotor(s): Mannens MMAM, Postma AV)
van Herpe F, Waterham HR, Adams CJ, Mannens M, Bikker H, Vaz FM, Cassiman D, NTCP deficiency and persistently raised bile salts: an adult case. J INHERIT METAB DIS 2017;40 (3):313-315 [PubMed]
Eggermann K, Bliek J, Brioude F, Algar E, Buiting K, Russo S, Tümer Z, Monk D, Moore G, Antoniadi T, Macdonald F, Netchine I, Lombardi P, Soellner L, Begemann M, Prawitt D, Maher ER, Mannens M, Riccio A, Weksberg R, Lapunzina P, Grønskov K, Mackay DJG, Eggermann T, EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome. EUR J HUM GENET 2016;24 (10):1377-1387 [PubMed]
Eggermann T, Brioude F, Russo S, Lombardi MP, Bliek J, Maher ER, Larizza L, Prawitt D, Netchine I, Gonzales M, Grønskov K, Tümer Z, Monk D, Mannens M, Chrzanowska K, Walasek MK, Begemann M, Soellner L, Eggermann K, Tenorio J, Nevado J, Moore GE, Mackay DJ, Temple K, Gillessen-Kaesbach G, Ogata T, Weksberg R, Algar E, Lapunzina P, Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling. EUR J HUM GENET 2016;24 (6):784-793 [PubMed]
Henneman P, Petrus NCM, Venema A, van Sinderen F, van der Lip K, Hennekam RC, Mannens M, Sprikkelman AB, Genetic susceptibility for cow's milk allergy in Dutch children: the start of the allergic march?. CLIN TRANSL ALLERGY 2016;6:7 [PubMed]
Li Yim AYF, Duijvis NW , Zhao J, de Jonge WJ, D'Haens GRAM, Mannens MMAM, Mul ANPM, te Velde AA, Henneman P, Peripheral blood methylation profiling of female Crohn's disease patients. CLIN EPIGENETICS 2016;8:65 [PubMed]
Maas SM, Vansenne F, Kadouch DJM, Ibrahim A, Bliek J, Hopman S, Mannens MM, Merks JHM, Maher ER, Hennekam RC, Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups. AM J MED GENET A 2016;170A (9):2248-2260 [PubMed]
Petrus NCM, Henneman P, Venema A, Mul A, van Sinderen F, Haagmans M, Mook O, Hennekam RC, Sprikkelman AB, Mannens M, Cow's milk allergy in Dutch children: an epigenetic pilot survey. CLIN TRANSL ALLERGY 2016;6:16 [PubMed]
Rump P, Jazayeri O, van Dijk-Bos KK, Johansson LF, van Essen AJ, Verheij JBGM, Veenstra-Knol HE, Redeker EJW, Mannens MMAM, Swertz MA, Alizadeh BZ, van Ravenswaaij-Arts CMA, Sinke RJ, Sikkema-Raddatz B, Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly. BMC MED GENOMICS 2016;9 (1):7 [PubMed]
Fernando F, Keijser R, Henneman P, van der Kevie-Kersemaekers AMF, Mannens MM, van der Post JA, Afink GB, Ris-Stalpers C, The idiopathic preterm delivery methylation profile in umbilical cord blood DNA. BMC GENOMICS 2015;16 (1):736 [PubMed]
Maas SM, Shaw AC, Bikker H, Lüdecke HJ, van der Tuin K, Badura-Stronka M, Belligni E, Biamino E, Bonati MT, Carvalho DR, Cobben J, de Man SA, den Hollander NS, Di Donato N, Garavelli L, Grønborg S, Herkert JC, Hoogeboom AJM, Jamsheer A, Latos-Bielenska A, Maat-Kievit A, Magnani C, Marcelis C, Mathijssen IB, Nielsen M, Otten E, Ousager LB, Pilch J, Plomp A, Poke G, Poluha A, Posmyk R, Rieubland C, Silengo M, Simon M, Steichen E, Stumpel C, Szakszon K, Polonkai E, van den Ende J, van der Steen A, van Essen T, van Haeringen A, van Hagen JM, Verheij JBGM, Mannens MM, Hennekam RC, Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. EUR J MED GENET 2015;58 (5):279-292 [PubMed]
Meeks KAC, Stronks K, Beune EJAJ , Adeyemo A, Henneman P, Mannens MMAM, Nicolaou M, Peters RJG, Rotimi CN, Snijder MB, Agyemang C, Prevalence of type 2 diabetes and its association with measures of body composition among African residents in the Netherlands--The HELIUS study. DIABETES RES CLIN PR 2015;110 (2):137-146 [PubMed]
Vrijenhoek T, Kraaijeveld K, Elferink M, de Ligt J, Kranendonk E, Santen G, Nijman IJ, Butler D, Claes G, Costessi A, Dorlijn W, van Eyndhoven W, Halley DJJ, van den Hout MCGN, van Hove S, Johansson LF, Jongbloed JDH, Kamps R, Kockx CEM, de Koning B, Kriek M, Lekanne Dit Deprez R, Lunstroo H, Mannens M, Mook OR, Nelen M, Ploem C , Rijnen M, Saris JJ, Sinke R, Sistermans E, van Slegtenhorst M, Sleutels F, van der Stoep N, van Tienhoven M, Vermaat M, Vogel M, Waisfisz Q, Marjan Weiss J, van den Wijngaard A, van Workum W, Ijntema H, van der Zwaag B, van Ijcken WFJ, den Dunnen J, Veltman JA, Hennekam R, Cuppen E, Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects. EUR J HUM GENET 2015;23 (9):1142-1150 [PubMed]
Vrijenhoek T, Kraaijeveld K, Elferink M, de Ligt J, Kranendonk E, Santen G, Nijman IJ, Butler D, Claes G, Costessi A, Dorlijn W, van Eyndhoven W, Halley DJJ, van den Hout MCGN, van Hove S, Johansson LF, Jongbloed JDH, Kamps R, Kockx CEM, de Koning B, Kriek M, Lekanne Dit Deprez R, Lunstroo H, Mannens M, Mook OR, Nelen M, Ploem C , Rijnen M, Saris JJ, Sinke R, Sistermans E, van Slegtenhorst M, Sleutels F, van der Stoep N, van Tienhoven M, Vermaat M, Vogel M, Waisfisz Q, Weiss JM, van den Wijngaard A, van Workum W, Ijntema H, van der Zwaag B, van Ijcken WFJ, den Dunnen JT, Veltman JA, Hennekam R, Cuppen E, Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects (vol 23, pg 1142, 2015). EUR J HUM GENET 2015;23 (9):1270 [PubMed]
Agyemang C, Beune E, Meeks K, Owusu-Dabo E, Agyei-Baffour P, Aikins ADG, Dodoo F, Smeeth L, Addo J, Mockenhaupt FP, Amoah SK, Schulze MB, Danquah I, Spranger J, Nicolaou M, Klipstein-Grobusch K, Burr T, Henneman P, Mannens MM, van Straalen JP, Bahendeka S, Zwinderman AH, Kunst AE, Stronks K, Rationale and cross-sectional study design of the Research on Obesity and type 2 Diabetes among African Migrants: the RODAM study. BMJ OPEN 2014;4 (3):e004877 [PubMed]
Alders M, Al-Gazali L, Cordeiro I, Dallapiccola B, Garavelli L, Tuysuz B, Salehi F, Haagmans MA, Mook OR, Majoie CB, Mannens MM, Hennekam RC, Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome. HUM GENET 2014;133 (9):1161-1167 [PubMed]
Alders M, Maas SM, Kadouch DJM, van der Lip K, Bliek J, van der Horst CMAM, Mannens MMAM, Methylation analysis in tongue tissue of BWS patients identifies the (EPI)genetic cause in 3 patients with normal methylation levels in blood. EUR J MED GENET 2014;57 (6):293-297 [PubMed]
Cordeddu V, Redeker B, Stellacci E, Jongejan A, Fragale A, Bradley TEJ, Anselmi M, Ciolfi A, Cecchetti S, Muto V, Bernardini L, Azage M, Carvalho DR, Espay AJ, Male A, Molin AM, Posmyk R, Battisti C, Casertano A, Melis D, van Kampen A, Baas F, Mannens MM, Bocchinfuso G, Stella L, Tartaglia M, Hennekam RC, Mutations in ZBTB20 cause Primrose syndrome. NAT GENET 2014;46 (8):815-817 [PubMed]
Eggermann T, Algar E, Lapunzina P, Mackay D, Maher ER, Mannens M, Netchine I, Prawitt D, Riccio A, Temple IK, Weksberg R, Clinical utility gene card for: Beckwith-Wiedemann Syndrome. EUR J HUM GENET 2014;22 (3):10.1038/ejhg.2013.132 [PubMed]
Postma AV, Alders M, Sylva M, Bilardo CM, Pajkrt E, van Rijn RR, Schulte-Merker S, Bulk S, Stefanovic S, Ilgun A, Barnett P, Mannens MMAM, Moorman AFM, Oostra RJ, van Maarle MC, Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal. J MED GENET 2014;51 (2):90-97 [PubMed]
Hofman N, Tan HL, Alders M, Kolder I, de Haij S, Mannens MMAM, Lombardi MP, Lekanne Deprez RH, van Langen I, Wilde AAM, Yield of molecular and clinical testing for arrhythmia syndromes: report of 15 years' experience. CIRCULATION 2013;128 (14):1513-1521 [PubMed]
Huisman SA, Redeker EJW, Maas SM, Mannens MM, Hennekam RCM, High rate of mosaicism in individuals with Cornelia de Lange syndrome. J MED GENET 2013;50 (5):339-344 [PubMed]
Joustra SD, Schoenmakers N, Persani L, Campi I, Bonomi M, Radetti G, Beck-Peccoz P, Zhu H, Davis TME, Sun Y, Corssmit EP, Appelman-Dijkstra NM, Heinen CA, Pereira AM, Varewijck AJ, Janssen JAMJL, Endert E, Hennekam RC, Lombardi MP, Mannens MMAM, Bak B, Bernard DJ, Breuning MH, Chatterjee K, Dattani MT, Oostdijk W, Biermasz NR, Wit JM, van Trotsenburg ASP, The IGSF1 deficiency syndrome: characteristics of male and female patients. J CLIN ENDOCR METAB 2013;98 (12):4942-4952 [PubMed]
Mook ORF, Haagmans MA, Soucy JF, van de Meerakker JBA, Baas F, Jakobs ME, Hofman N, Christiaans I, Lekanne Deprez RH, Mannens MMAM, Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics. J MED GENET 2013;50 (9):614-626 [PubMed]
van de Meerakker JBA, Christiaans I, Barnett P, Lekanne Deprez RH, Ilgun A, Mook ORF, Mannens MMAM, Lam J, Wilde AAM, Moorman AFM, Postma AV, A novel alpha-tropomyosin mutation associates with dilated and non-compaction cardiomyopathy and diminishes actin binding. BBA-MOL CELL RES 2013;1833 (4):833-839 [PubMed]
Weterings AAW, van Rijsingen IAW, Plomp AS, Zwinderman AH, Lekanne Deprez RH, Mannens MM, van den Bergh Weerman MA, van der Wal AC, Pinto-Sietsma SJ, A novel lamin A/C mutation in a Dutch family with premature atherosclerosis. ATHEROSCLEROSIS 2013;229 (1):169-173 [PubMed]
Hollak CEM, de Sonnaville ESV, Cassiman D, Linthorst GE, Groener JE, Morava E, Wevers RA, Mannens M, Aerts JMFG, Meersseman W, Akkerman E, Niezen-Koning KE, Mulder MF, Visser G, Wijburg FA, Lefeber D, Poorthuis BJHM, Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: Disease spectrum and natural course in attenuated patients. MOL GENET METAB 2012;107 (3):526-533 [PubMed]
Biegstraaten M, van Schaik IN, Aerts JMFG, Langeveld M, Mannens MMAM, Bour LJ, Sidransky E, Tayebi N, Fitzgibbon E, Hollak CEM, A monozygotic twin pair with highly discordant Gaucher phenotypes. BLOOD CELL MOL DIS 2011;46 (1):39-41 [PubMed]
Christiaans I, Birnie E, Bonsel GJ, Mannens MMAM, Michels M, Majoor-Krakauer D, Dooijes D, van Tintelen JP, van den Berg MP, Volders PGA, Arens YH, van den Wijngaard A, Atsma DE, Helderman-van den Enden ATJM, Houweling AC, de Boer K, van der Smagt JJ, Hauer RNW, Marcelis CLM, Timmermans J, van Langen IM, Wilde AAM, Manifest disease, risk factors for sudden cardiac death, and cardiac events in a large nationwide cohort of predictively tested hypertrophic cardiomyopathy mutation carriers: determining the best cardiological screening strategy. EUR HEART J 2011;32 (9):1161-1170 [PubMed]
Christiaans I, Nannenberg EA, Dooijes D, Jongbloed RJE, Michels M, Postema PG, Majoor-Krakauer D, van den Wijngaard A, Mannens MMAM, van Tintelen JP, van Langen IM, Wilde AAM, Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands. NETH HEART J 2011;19 (Suppl. S):32-37
Lombardi MP, Bulk S, Celli J, Lampe A, Gabbett MT, Ousager LB, van der Smagt JJ, Soller M, Stattin EL, Mannens MAMM, Smigiel R, Hennekam RC, Mutation update for the PORCN gene. HUM MUTAT 2011;32 (7):723-728 [PubMed]
Mannens M, Smeets E. Introduction to molecular genetics in: Baars HF, van der Smagt JJ, Doevendans PAFM, editors. Clinical Cardiogenetics. London: Springer-Verlag; 2011., p. 3-21
Nof E, Belhassen B, Arad M, Bhuiyan ZA, Antzelevitch C, Rosso R, Fogelman R, Luria D, El-Ani D, Mannens MMAM, Viskin S, Eldar M, Wilde AAM, Glikson M, Postpacing abnormal repolarization in catecholaminergic polymorphic ventricular tachycardia associated with a mutation in the cardiac ryanodine receptor gene. HEART RHYTHM 2011;8 (10):1546-1552 [PubMed]
van de Meerakker JBA, van Engelen K, Mathijssen IB, Lekanne dit Deprez RH, Lam J, Wilde AAM, Baars MJH, Mannens MMAM, Mulder BJM, Moorman AFM, Postma AV, A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9q. EUR J HUM GENET 2011;19 (7):820-826 [PubMed]
van den Wijngaard A, Volders P, van Tintelen JP, Jongbloed JDH, van den Berg MP, Lekanne Deprez RH, Mannens MMAM, Hofmann N, Slegtenhorst M, Dooijes D, Michels M, Arens Y, Jongbloed R, Smeets BJM, Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy. NETH HEART J 2011;19 (7-8):344-351 [PubMed]
Christiaans I, Nannenberg EA, Dooijes D, Jongbloed RJE, Michels M, Postema PG, Majoor-Krakauer D, van den Wijngaard A, Mannens MMAM, van Tintelen JP, van Langen IM, Wilde AAM, Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands. NETH HEART J 2010;18 (5):248-254 [PubMed]
Kuipers R, van den Bergh T, Joosten HJ, Lekanne dit Deprez RH, Mannens MMAM, Schaap PJ, Novel tools for extraction and validation of disease-related mutations applied to fabry disease. HUM MUTAT 2010;31 (9):1026-1032 [PubMed]
van Kuilenburg ABP, Meijer J, Mul ANPM, Meinsma R, Schmid V, Dobritzsch D, Hennekam RCM, Mannens MMAM, Kiechle M, Etienne-Grimaldi MC, Klümpen HJ, Maring JG, Derleyn VA, Maartense E, Milano G, Vijzelaar R, Gross E, Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicity. HUM GENET 2010;128 (5):529-538 [PubMed]
Alders M, Bliek J, van der Lip K, van der Bogaard R, Mannens M, Determination of KCNQ1OT1 and H19 methylation levels in BWS and SRS patients using methylation-sensitive high-resolution melting analysis. EUR J HUM GENET 2009;17 (4):467-473 [PubMed]
Alders M, Hogan BM, Gjini E, Salehi F, Al-Gazali L, Hennekam EA, Holmberg EE, Mannens MMAM, Mulder MF, Offerhaus GJA, Prescott TE, Schroor EJ, Verheij JBGM, Witte M, Zwijnenburg PJ, Vikkula M, Schulte-Merker S, Hennekam RC, Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. NAT GENET 2009;41 (12):1272-1274 [PubMed]
Alders M, Koopmann TT, Christiaans I, Postema PG, Beekman L, Tanck MWT, Zeppenfeld K, Loh P, Koch KT, Demolombe S, Mannens MMAM, Bezzina CR, Wilde AAM, Haplotype-Sharing Analysis Implicates Chromosome 7q36 Harboring DPP6 in Familial Idiopathic Ventricular Fibrillation. AM J HUM GENET 2009;84 (4):468-476 [PubMed]
Bhuiyan ZA. Clinical and genetic spectrum of hereditary cardiac arrhythmia syndromes. s.l.: s.n.; 2009. 327p. ISBN 9789090243184 [UvA Dissertations Online] Proefschrift Universiteit van Amsterdam. (Promotor(s): Wilde AAM; copromotor(s): Mannens MMAM)
Bhuiyan ZA, Al-Shahrani S, Al-Khadra AS, Al-Ghamdi S, Al-Khalaf K, Mannens MMAM, Wilde AAM, Momenah TS, Clinical and Genetic Analysis of Long QT Syndrome in Children from Six Families in Saudi Arabia: Are They Different?. PEDIATR CARDIOL 2009;30 (4):490-501 [PubMed]
Bhuiyan ZA, Jongbloed JDH, van der Smagt J, Lombardi PM, Wiesfeld ACP, Nelen M, Schouten M, Jongbloed R, Cox MGPJ, van Wolferen M, Rodriguez LM, van Gelder IC, Bikker H, Suurmeijer AJH, van den Berg MP, Mannens MMAM, Hauer RNW, Wilde AAM, van Tintelen JP, Desmoglein-2 and Desmocollin-2 Mutations in Dutch Arrhythmogenic Right Ventricular Dysplasia/Cardiomypathy Patients Results From a Multicenter Study. CIRC-CARDIOVASC GENE 2009;2 (5):418-U22 [PubMed]
Bliek J. Aberrant genomic imprinting in chromosome 11p15-associated congenital growth disorders: consequences for DNA-diagnostics. s.l.: s.n.; 2009. 201p. ISBN 9789036737739 [UvA Dissertations Online] Proefschrift Universiteit van Amsterdam. (Promotor(s): Leschot NJ, Westerveld A; copromotor(s): Mannens MMAM)
Bliek J, Alders M, Maas SM, Oostra RJ, Mackay DM, van der Lip K, Callaway JL, Brooks A, van 't Padje S, Westerveld A, Leschot NJ, Mannens MMAM, Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells. EUR J HUM GENET 2009;17 (12):1625-1634 [PubMed]
Bliek J, Snijder S, maas SM , Polstra A, van der Lip K, Alders M, Knegt AC, Mannens MMAM, Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions. EUR J MED GENET 2009;52 (6):404-408 [PubMed]
Bliek J, Verde G, Callaway J, Maas SM, de Crescenzo A, Sparago A, Cerrato F, Russo S, Ferraiuolo S, Rinaldi MM, Fischetto R, Lalatta F, Giordano L, Ferrari P, Cubellis MV, Larizza L, Temple IK, Mannens MMAM, Mackay DJG, Riccio A, Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome. EUR J HUM GENET 2009;17 (5):611-619 [PubMed]
de Fost M, Langeveld M, Franssen R, Hutten BA, Groener JEM, de Groot E, Mannens MM, Bikker H, Aerts JMFG, Kastelein JJP, Hollak CEM, Low HDL cholesterol levels in type I Gaucher disease do not lead to an increased risk of cardiovascular disease. ATHEROSCLEROSIS 2009;204 (1):267-272 [PubMed]
Medeiros-Domingo A, Bhuiyan ZA, Tester DJ, Hofman N, Bikker H, van Tintelen JP, Mannens MMAM, Wilde AAM, Ackerman MJ, The RYR2-Encoded Ryanodine Receptor/Calcium Release Channel in Patients Diagnosed Previously With Either Catecholaminergic Polymorphic Ventricular Tachycardia or Genotype Negative, Exercise-Induced Long QT Syndrome A Comprehensive Open Reading Frame Mutational Analysis. J AM COLL CARDIOL 2009;54 (22):2065-2074 [PubMed]
Bhuiyan ZA, Momenah TS, Amin AS, Al-Khadra AS, Alders M, Wilde AAM, Mannens MMAM, An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome. PROG BIOPHYS MOL BIO 2008;98 (2-3):319-327 [PubMed]
Bhuiyan ZA, Momenah TS, Gong Q, Amin AS, Ghamdi SA, Carvalho JS, Homfray T, Mannens MMAM, Zhou Z, Wilde AAM, Recurrent intrauterine fetal loss due to near absence of HERG: clinical and functional characterization of a homozygous nonsense HERG Q1070X mutation. HEART RHYTHM 2008;5 (4):553-561 [PubMed]
Bliek J, Maas S, Alders M, Merks JHM, Mannens M, Epigenotype, phenotype, and tumors in patients with isolated hemihyperplasia. J PEDIATR-US 2008;153 (1):95-100 [PubMed]
Gijsbers ACJ, D'haene B, Hilhorst-Hofstee Y, Mannens M, Albrecht B, Seidel J, Witt DR, Maisenbacher MK, Loeys B, van Essen T, Bakker E, Hennekam R, Breuning MH, de Baere E, Ruivenkamp CAL, Identification of copy number variants associated with BPES-like phenotypes. HUM GENET 2008;124 (5):489-498 [PubMed]
Redeker EJW, de Visser ASH, Bergen AAB, Mannens MMAM, Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders. MOL VIS 2008;14 (97-99):836-840 [PubMed]
Bhuiyan ZA, Hamdan MA, Shamsi ETA, Postma AV, Mannens MMAM, Wilde AAM, Al-Gazali L, A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22. J CARDIOVASC ELECTR 2007;18 (10):1060-1066 [PubMed]
Bhuiyan ZA, Stewart H, Redeker EJ, Mannens MMAM, Hennekam RCM, Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndrome. EUR J HUM GENET 2007;15 (4):505-508 [PubMed]
Bhuiyan ZA, van den Berg MP, van Tintelen JP, Bink-Boelkens MTE, Wiesfeld ACP, Alders M, Postma AV, van Langen I, Mannens MMAM, Wilde AAM, Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features. CIRCULATION 2007;116 (14):1569-1576 [PubMed]
Hofman N, Wilde AAM, Kääb S, van Langen IM, Tanck MWT, Mannens MMAM, Hinterseer M, Beckmann BM, Tan HL, Diagnostic criteria for congenital long QT syndrome in the era of molecular genetics: do we need a scoring system?. EUR HEART J 2007;28 (5):575-580 [PubMed]
Koopmann TT, Beekman L, Alders M, Meregalli PG, Mannens MMAM, Moorman AFM, Wilde AAM, Bezzina CR, Exclusion of multiple candidate genes and large genomic rearrangements in SCN5A in a Dutch Brugada syndrome cohort. HEART RHYTHM 2007;4 (6):752-755 [PubMed]
Vedder AC, Linthorst GE, van Breemen MJ, Groener JEM, Bemelman FJ, Strijland A, Mannens MMAM, Aerts JMFG, Hollak CEM, The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels. J INHERIT METAB DIS 2007;30 (1):68-78 [PubMed]
Vrouwe MG, Elghalbzouri-Maghrani E, Meijers M, Schouten P, Godthelp BC, Bhuiyan ZA, Redeker EJ, Mannens MM, Mullenders LHF, Pastink A, Darroudi F, Increased DNA damage sensitivity of Cornelia de Lange syndrome cells: evidence for impaired recombinational repair. HUM MOL GENET 2007;16 (12):1478-1487 [PubMed]
Bhuiyan ZA, Klein M, Hammond P, van Haeringen A, Mannens MMAM, van Berckelaer-Onnes I, Hennekam RCM, Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience. J MED GENET 2006;43 (7):568-575 [PubMed]
Bliek J, Terhal P, van den Bogaard MJ, Maas S, Hamel B, Salieb-Beugelaar G, Simon M, Letteboer T, van der Smagt J, Kroes H, Mannens M, Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype. AM J HUM GENET 2006;78 (4):604-614 [PubMed]
Florijn RJ, Loves W, Maillette de Buy Wenniger-Prick LJJM, Mannens MMAM, Tijmes N, Brooks SP, Hardcastle AJ, Bergen AAB, New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands. EUR J HUM GENET 2006;14 (9):986-990 [PubMed]
Kannankeril PJ, Bhuiyan ZA, Darbar D, Mannens MMAM, Wilde AAM, Roden DM, Arrhythmogenic right ventricular cardiomyopathy due to a novel plakophilin 2 mutation: wide spectrum of disease in mutation carriers within a family. HEART RHYTHM 2006;3 (8):939-944 [PubMed]
Koopmann TT, Alders M, Jongbloed RJ, Guerrero S, Mannens MMAM, Wilde AAM, Bezzina CR, Long QT syndrome caused by a large duplication in the KCNH2 (HERG) gene undetectable by current polymerase chain reaction-based exon-scanning methodologies. HEART RHYTHM 2006;3 (1):52-55 [PubMed]
Lombardi MP, Redeker EJW, van Gent DHM, Smeele KL, Weerdesteijn R, Mannens MMAM, Molecular genetic testing for familial hypercholesterolemia in the Netherlands: a stepwise screening strategy enhances the mutation detection rate. GENET TEST 2006;10 (2):77-84 [PubMed]
van Tintelen JP, Entius MM, Bhuiyan ZA, Jongbloed R, Wiesfeld ACP, Wilde AAM, van der Smagt J, Boven LG, Mannens MMAM, van Langen IM, Hofstra RMW, Otterspoor LC, Doevendans PAFM, Rodriguez LM, van Gelder IC, Hauer RNW, Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy. CIRCULATION 2006;113 (13):1650-1658 [PubMed]
Postma AV, Denjoy I, Kamblock J, Alders M, Lupoglazoff JM, Vaksmann G, Dubosq-Bidot L, Sebillon P, Mannens MMAM, Guicheney P, Wilde AAM, Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients. J MED GENET 2005;42 (11):863-870 [PubMed]
Smits JPP, Koopmann TT, Wilders R, Veldkamp MW, Opthof T, Bhuiyan ZA, Mannens MMAM, Balser JR, Tan HL, Bezzina CR, Wilde AAM, A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families. J MOL CELL CARDIOL 2005;38 (6):969-981 [PubMed]
Tycko B, Mannens MMAM. Beckwith-Wiedemann syndrome in: Jorde LB, Little PFR, Dunn MJ, editors. Encyclopedia of genetics, genomics, proteomics and bioinformatics 1. S.l.: Wiley; 2005., p. 259-ev
van der Velde ET, Vander VET, Vriend JWJ, Mannens MMAM, Uiterwaal CSPM, Brand R, Mulder BJM, CONCOR, an initiative towards a national registry and DNA-bank of patients with congenital heart disease in the Netherlands: Rationale, design, and first results. EUR J EPIDEMIOL 2005;20 (6):549-557 [PubMed]
van der Velde ET, Vriend JWJ, Mannens MMAM, Uiterwaal CSPM, Brand R, Mulder BJM, CONCOR, an initiative towards a national registry and DNA-bank of patients with congenital heart disease in the Netherlands: Rationale, design, and frst results (vol 20, pg 549, 2005). EUR J EPIDEMIOL 2005;20 (10):885
Verkerk AO, Wilders R, Schulze-Bahr E, Beekman L, Bhuiyan ZA, Bertrand J, Eckardt L, Lin D, Borggrefe M, Breithardt G, Mannens MMAM, Tan HL, Wilde AAM, Bezzina CR, Role of sequence variations in the human ether-a-go-go-related gene (HERG, KCNH2) in the Brugada syndrome. CARDIOVASC RES 2005;68 (3):441-453 [PubMed]
Wilde AAM, van Langen IM, Mannens MMAM, Waalewijn RA, Maes A, Plotseling overlijden op jonge leeftijd en het belang van moleculair-pathologisch onderzoek. NED TIJDSCHR GENEESKD 2005;149 (29):1601-1604 [PubMed]
Bellocq C, van Ginneken ACG, Bezzina CR, Alders M, Escande D, Mannens MMAM, Baró I, Wilde AAM, Mutation in the KCNQ1 gene leading to the short QT-interval syndrome. CIRCULATION 2004;109 (20):2394-2397 [PubMed]
Bliek J, Gicquel C, Maas S, Gaston V, Le Bouc Y, Mannens M, Epigenotyping as a tool for the prediction of tumor risk and tumor type in patients with Beckwith-Wiedemann syndrome (BWS). J PEDIATR-US 2004;145 (6):796-799 [PubMed]
Hu X, Plomp A, Gorgels T, Brink JT, Loves W, Mannens M, de Jong PTVM, Bergen AAB, Efficient molecular diagnostic strategy for ABCC6 in pseudoxanthoma elasticum. GENET TEST 2004;8 (3):292-300 [PubMed]
Leschot NJ, Mannens MMAM, De zorgwekkende gevolgen van het octrooieren van humane genen voor de gezondheidszorg en het wetenschappelijk onderzoek in Nederland. NED TIJDSCHR GENEESKD 2004;148 (35):1712-1715 [PubMed]
Alders M, Jongbloed R, Deelen W, van den Wijngaard A, Doevendans P, ten Cate F, Regitz-Zagrosek V, Vosberg HP, van Langen I, Wilde A, Dooijes D, Mannens M, The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands. EUR HEART J 2003;24 (20):1848-1853 [PubMed]
Bezzina CR, Rook MB, Groenewegen WA, Herfst LJ, van der Wal AC, Lam J, Jongsma HJ, Wilde AAM, Mannens MMAM, Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system. CIRC RES 2003;92 (2):159-168 [PubMed]
Bezzina CR, Verkerk AO, Busjahn A, Jeron A, Erdmann J, Koopmann TT, Bhuiyan ZA, Wilders R, Mannens MMAM, Tan HL, Luft FC, Schunkert H, Wilde AAM, A common polymorphism in KCNH2 (HERG) hastens cardiac repolarization. CARDIOVASC RES 2003;59 (1):27-36 [PubMed]
Gianotten J, van der Veen F, Alders M, Leschot NJ, Tanck MWT, Land JA, Kremer JAM, Hoefsloot LH, Mannens MM, Lombardi MP, Hoffer MJV, Chromosomal region 11p15 is associated with male factor subfertility. MOL HUM REPROD 2003;9 (10):587-592 [PubMed]
Groenewegen WA, Bezzina CR, van Tintelen JP, Hoorntje TM, Mannens MMAM, Wilde AAM, Jongsma HJ, Rook MB, A novel LQT3 mutation implicates the human cardiac sodium channel domain IVS6 in inactivation kinetics. CARDIOVASC RES 2003;57 (4):1072-1078 [PubMed]
Postma AV. Genetics aspects of cardiac arrythmia syndromes. S.l.: s.n.; 2003. 162p. ISBN 90-9017091-X [UvA Dissertations Online] Proefschrift Universiteit van Amsterdam. (Promotor(s): Wilde AAM; copromotor(s): Moorman AFM, Mannens MMAM)
Breugem CC, Alders M, Salieb-Beugelaar GB, Mannens MMAM, van der Horst CM, Hennekam RCM, A locus for hereditary capillary malformations mapped on chromosome 5q. HUM GENET 2002;110 (4):343-347 [PubMed]
Mannens MMAM. Beckwith-Wiedemann syndrome in: Fletcher CDM, Unni KK, Mertens F, editors. Pathology & Genetics. Tumours of soft tissue and bone. S.l.: WHO Classification of tumours; 2002., p. 354-355
Postma AV, Denjoy I, Hoorntje TM, Lupoglazoff JM, Da Costa A, Sebillon P, Mannens MMAM, Wilde AAM, Guicheney P, Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia. CIRC RES 2002;91 (8):E21-E26 [PubMed]
Bliek J, maas SM , Ruijter JM, Hennekam RC, Alders M, Westerveld A, Mannens MM, Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS. HUM MOL GENET 2001;10 (5):467-476 [PubMed]
Aalfs CM, Salieb-Beugelaar GB, Wanders RJ, Mannens MM, Wijburg FA, A case of methemoglobinemia type II due to NADH-cytochrome b5 reductase deficiency: determination of the molecular basis. HUM MUTAT 2000;16 (1):18-22 [PubMed]
Alders M, Ryan A, Hodges M, Bliek J, Feinberg AP, Privitera O, Westerveld A, Little PF, Mannens M, Disruption of a novel imprinted zinc-finger gene, ZNF215, in Beckwith-Wiedemann syndrome. AM J HUM GENET 2000;66 (5):1473-1484 [PubMed]
Leschot NJ, Mannens MM, De ontrafeling van het humane genoom: een mijlpaal, geen eindstreep. NED TIJDSCHR GENEESKD 2000;144 (23):1093-1096 [PubMed]
Lombardi MP, Redeker EJ, Defesche JC, Kamerling SW, Trip MD, Mannens MM, Havekes LM, Kastelein JJ, Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands. CLIN GENET 2000;57 (2):116-124 [PubMed]
Postma AV, Bezzina CR, de Vries JF, Wilde AA, Moorman AF, Mannens MM, Genomic organisation and chromosomal localisation of two members of the KCND ion channel family, KCND2 and KCND3. HUM GENET 2000;106 (6):614-619 [PubMed]
Steenman MJ, Zijlstra N, Kruitbosch DL, Wiesmeijer C, Larizza L, Voûte PA, Westerveld A, Mannens MM, Delineation and physical separation of novel translocation breakpoints on chromosome 1p in two genetically closely associated childhood tumors. CYTOGENET CELL GENET 2000;88 (3-4):289-295 [PubMed]
Steenman M, Westerveld A, Mannens M, Genetics of Beckwith-Wiedemann syndrome-associated tumors: common genetic pathways. GENE CHROMOSOME CANC 2000;28 (1):1-13 [PubMed]
van den Bogaard R, Fijen CA, Schipper MG, de Galan L, Kuijper EJ, Mannens MM, Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies. EUR J HUM GENET 2000;8 (7):513-518 [PubMed]
Wilde AAM, Mannens MMAM, Alders M, van der Lip K, Hoorntje TM, Sreeram N, van Tintelen P, van der Wal A, A knockout may not always be a knockout - Response. CIRCULATION 2000;102 (18):E122-E122
Bezzina C, Veldkamp MW, van den Berg MP, Postma AV, Rook MB, Viersma JW, van Langen IM, Tan-Sindhunata G, Bink-Boelkens MT, van der Hout AH, Mannens MM, Wilde AA, A single Na(+) channel mutation causing both long-QT and Brugada syndromes. CIRC RES 1999;85 (12):1206-1213 [PubMed]
Fijen CA, van den Bogaard R, Schipper M, Mannens M, Schlesinger M, Nordin FG, Dankert J, Daha MR, Sjöholm AG, Truedsson L, Kuijper EJ, Properdin deficiency: molecular basis and disease association. MOL IMMUNOL 1999;36 (13-14):863-867 [PubMed]
Gaudray P, Carle GF, Gerhard DS, Gessler M, Mannens MM, Athanasiou M, Bliek J, Calender A, Debelenko LV, Devignes M, Evans GA, Favier R, Forbes S, Gaudray G, Gawin B, Gordon M, Grimmond S, Grossfeld P, Harris J, Hattori M, Hosoda F, Hummerich H, James M, Kalla J, Katsanis N, Report of the Sixth International Workshop on Human Chromosome 11 Mapping 1998. Nice, France, May 2-5, 1998. CYTOGENET CELL GENET 1999;86 (3-4):167-186 [PubMed]
Hoorntje T, Alders M, van Tintelen P, van der Lip K, Sreeram N, van der Wal A, Mannens M, Wilde A, Homozygous premature truncation of the HERG protein : the human HERG knockout. CIRCULATION 1999;100 (12):1264-1267 [PubMed]
Mannens M, Alders M, Genomic imprinting: concept and clinical consequences. ANN MED 1999;31 (1):4-11 [PubMed]
Rook MB, Bezzina Alshinawi C, Groenewegen WA, van Gelder IC, van Ginneken AC, Jongsma HJ, Mannens MM, Wilde AA, Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome. CARDIOVASC RES 1999;44 (3):507-517 [PubMed]
Schott JJ, Alshinawi C, Kyndt F, Probst V, Hoorntje TM, Hulsbeek M, Wilde AA, Escande D, Mannens MM, Le Marec H, Cardiac conduction defects associate with mutations in SCN5A. NAT GENET 1999;23 (1):20-21 [PubMed]
Steenman M, Tomlinson G, Westerveld A, Mannens M, Comparative genomic hybridization analysis of hepatoblastomas: additional evidence for a genetic link with Wilms tumor and rhabdomyosarcoma. CYTOGENET CELL GENET 1999;86 (2):157-161 [PubMed]
Boot RG, Renkema GH, Verhoek M, Strijland A, Bliek J, de Meulemeester TM, Mannens MM, Aerts JM, The human chitotriosidase gene. Nature of inherited enzyme deficiency. J BIOL CHEM 1998;273 (40):25680-25685 [PubMed]
Demolombe S, Baró I, Péréon Y, Bliek J, Mohammad-Panah R, Pollard H, Morid S, Mannens M, Wilde A, Barhanin J, Charpentier F, Escande D, A dominant negative isoform of the long QT syndrome 1 gene product. J BIOL CHEM 1998;273 (12):6837-6843 [PubMed]
Henderson HE, Bijvoet SM, Mannens MA, Bruin T, Erkelens DW, Hayden MR, Kastelein JJ, Ile225Thr loop mutation in the lipoprotein lipase (LPL) gene is a de novo event. AM J MED GENET 1998;78 (4):313-316 [PubMed]
Speleman F, van den Berg E, Dhooge C, Oosterhuis W, Redeker B, de Potter CR, Tamminga RY, van Roy N, Mannens M, Cytogenetic and molecular analysis of cellular atypical mesoblastic nephroma. GENE CHROMOSOME CANC 1998;21 (3):265-269 [PubMed]
van Langen IM, Wilde AA, Mannens MA, Plotselinge dood bij jonge mensen door aritmogene rechterventrikeldysplasie. NED TIJDSCHR GENEESKD 1998;142 (13):739-740 [PubMed]
Alders M, Hodges M, Hadjantonakis AK, Postmus J, van Wijk I, Bliek J, de Meulemeester M, Westerveld A, Guillemot F, Oudejans C, Little P, Mannens M, The human Achaete-Scute homologue 2 (ASCL2,HASH2) maps to chromosome 11p15.5, close to IGF2 and is expressed in extravillus trophoblasts. HUM MOL GENET 1997;6 (6):859-867 [PubMed]
Boot RG, Hollak CE, Verhoek M, Sloof P, Poorthuis BJ, Kleijer WJ, Wevers RA, van Oers MH, Mannens MM, Aerts JM, van Weely S, Glucocerebrosidase genotype of Gaucher patients in The Netherlands: limitations in prognostic value. HUM MUTAT 1997;10 (5):348-358 [PubMed]
Mannens M, Wilde A, KVLQT1, the rhythm of imprinting. NAT GENET 1997;15 (2):113-115 [PubMed]
Nesbit MA, Hodges MD, Campbell L, de Meulemeester TM, Alders M, Rodrigues NR, Talbot K, Theodosiou AM, Mannens MA, Nakamura Y, Little PF, Davies KE, Genomic organization and chromosomal localization of a member of the MAP kinase phosphatase gene family to human chromosome 11p15.5 and a pseudogene to 10q11.2. GENOMICS 1997;42 (2):284-294 [PubMed]
Oudejans C, Westerman B, van Elk E, Könst A, Mulders M, Alders M, van Vugt J, van Wijk I, Mannens M, Growth regulation of extraembryonic tissues. The effect of genomic imprinting on development of the placenta. EUR J OBSTET GYN R B 1997;75 (1):29-32 [PubMed]
Steenman M, Redeker B, de Meulemeester M, Wiesmeijer K, Voûte PA, Westerveld A, Slater R, Mannens M, Comparative genomic hybridization analysis of Wilms tumors. CYTOGENET CELL GENET 1997;77 (3-4):296-303 [PubMed]
Wilde AA, Mannens MM, Iatrogene collaps; is die te voorkomen?. NED TIJDSCHR GENEESKD 1997;141 (16):796-797 [PubMed]
Alders M, Bliek J, Redeker B, Ryan A, Feinberg A, Westerveld A, Little P, Mannens M, Cloning of candidate genes involved in the Beckwith-Wiedemann syndrome and childhood tumors. MED PEDIATR ONCOL 1996;27 (5):495-497 [PubMed]
de Meulemeester M, Vink A, Jakobs M, Hermsen M, Steenman M, Slater R, Dietrich A, Mannens M, The application of microwave denaturation in comparative genomic hybridization. GENET ANAL 1996;13 (5):129-133 [PubMed]
Fijen CA, van den Bogaard R, Daha MR, Dankert J, Mannens M, Kuijper EJ, Carrier detection by microsatellite haplotyping in 10 properdin type 1-deficient families. EUR J CLIN INVEST 1996;26 (10):902-906 [PubMed]
Mannens M, Alders M, Redeker B, Bliek J, Steenman M, Wiesmeyer C, de Meulemeester M, Ryan A, Kalikin L, Voûte T, de Kraker J, Hoovers J, Slater R, Feinberg A, Little P, Westerveld A, Positional cloning of genes involved in the Beckwith-Wiedemann syndrome, hemihypertrophy, and associated childhood tumors. MED PEDIATR ONCOL 1996;27 (5):490-494 [PubMed]
Shows TB, Alders M, Bennett S, Burbee D, Cartwright P, Chandrasekharappa S, Cooper P, Courseaux A, Davies C, Devignes MD, Devilee P, Elliott R, Evans G, Fantes J, Garner H, Gaudray P, Gerhard DS, Gessler M, Higgins M, Hummerich H, James M, Lagercrantz J, Litt M, Little P, Mannens M, Munroe D, Nowak N, O'Brien S, Parker N, Perlin M, Reid L, Richard C, Sawicki M, Swallow D, Thakker R, van Heyningen V, van Schothorst E, Vorechovsky I, Wadelius C, Weber B, Zabel B, Report of the Fifth International Workshop on Human Chromosome 11 Mapping 1996. CYTOGENET CELL GENET 1996;74 (1-2):1-56 [PubMed]
Aalfs CM, Hoovers JM, Nieste-Otter MA, Mannens MM, Hennekam RC, Leschot NJ, Further delineation of the partial proximal trisomy 10q syndrome. J MED GENET 1995;32 (12):968-971 [PubMed]
Austruy E, Candon S, Henry I, Gyapay G, Tournade MF, Mannens M, Callen D, Junien C, Jeanpierre C, Characterization of regions of chromosomes 12 and 16 involved in nephroblastoma tumorigenesis. GENE CHROMOSOME CANC 1995;14 (4):285-294 [PubMed]
Fantes JA, Oghene K, Boyle S, Danes S, Fletcher JM, Bruford EA, Williamson K, Seawright A, Schedl A, Hanson I, Zehetner G, Bhogal R, Lehrach H, Gregory S, Williams J, Little PFR, Sellar GC, Hoovers J, Mannens M, Weissenbach J, Junien C, van Heyningen V, Bickmore WA, A high-resolution integrated physical, cytogenetic, and genetic map of human chromosome 11: distal p13 to proximal p15.1. GENOMICS 1995;25 (2):447-461 [PubMed]
Fantes J, Redeker B, Breen M, Boyle S, Brown J, Fletcher J, Jones S, Bickmore W, Fukushima Y, Mannens M, Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype. HUM MOL GENET 1995;4 (3):415-422 [PubMed]
Fijen CA, Derkx BH, Kuijper EJ, Mannens M, Poort SR, Peters M, Daha MR, Dankert J, Fulminant meningococcal septic shock in a boy with combined inherited properdin and protein C deficiency. CLIN EXP IMMUNOL 1995;102 (2):290-296 [PubMed]
Hoovers JM, Kalikin LM, Johnson LA, Alders M, Redeker B, Law DJ, Bliek J, Steenman M, Benedict M, Wiegant J, Lengauer C, Taillon-Miller P, Schlessinger D, Edwards MC, Elledge SJ, Ivens A, Westerveld A, Little P, Mannens M, Feinberg AP, Multiple genetic loci within 11p15 defined by Beckwith-Wiedemann syndrome rearrangement breakpoints and subchromosomal transferable fragments. P NATL ACAD SCI USA 1995;92 (26):12456-12460 [PubMed]
Redeker E, Alders M, Hoovers JM, Richard CW 3rd, Westerveld A, Mannens M, Physical mapping of 3 candidate tumor suppressor genes relative to Beckwith-Wiedemann syndrome associated chromosomal breakpoints at 11p15.3. CYTOGENET CELL GENET 1995;68 (3-4):222-225 [PubMed]
Mannens M, Hoovers JM, Redeker E, Verjaal M, Feinberg AP, Little P, Boavida M, Coad N, Steenman M, Bliek J, Parental imprinting of human chromosome region 11p15.3-pter involved in the Beckwith-Wiedemann syndrome and various human neoplasia. EUR J HUM GENET 1994;2 (1):3-23 [PubMed]
Redeker E, Hoovers JM, Alders M, van Moorsel CJ, Ivens AC, Gregory S, Kalikin L, Bliek J, de Galan L, van den Bogaard R, Visser J, van der Voort R, Feinberg AP, Little PFR, Westerveld A, Mannens M, An integrated physical map of 210 markers assigned to the short arm of human chromosome 11. GENOMICS 1994;21 (3):538-550 [PubMed]
Caron H, van Sluis P, van Hoeve M, de Kraker J, Bras J, Slater R, Mannens M, Voûte PA, Westerveld A, Versteeg R, Allelic loss of chromosome 1p36 in neuroblastoma is of preferential maternal origin and correlates with N-myc amplification [Correction]. NAT GENET 1993;4 (4):431-431
Caron H, van Sluis P, van Hoeve M, de Kraker J, Bras J, Slater R, Mannens M, Voûte PA, Westerveld A, Versteeg R, Allelic loss of chromosome 1p36 in neuroblastoma is of preferential maternal origin and correlates with N-myc amplification. NAT GENET 1993;4 (2):187-190 [PubMed]
Fukushima Y, Hoovers J, Mannens M, Wakui K, Ohashi H, Ohno T, Ueoka Y, Niikawa N, Detection of a cryptic paracentric inversion within band 11p13 in familial aniridia by fluorescence in situ hybridization. HUM GENET 1993;91 (3):205-209 [PubMed]
Henry I, Hoovers J, Barichard F, Berthéas MF, Puech A, Prieur F, Gessler M, Bruns G, Mannens M, Junien C, Pericentric intrachromosomal insertion responsible for recurrence of del(11)(p13p14) in a family. GENE CHROMOSOME CANC 1993;7 (1):57-62 [PubMed]
Henry I, Puech A, Riesewijk A, Ahnine L, Mannens M, Beldjord C, Bitoun P, Tournade MF, Landrieu P, Junien C, Somatic mosaicism for partial paternal isodisomy in Wiedemann-Beckwith syndrome: a post-fertilization event. EUR J HUM GENET 1993;1 (1):19-29 [PubMed]
Henry I, van Heyningen V, Puech A, Scrable H, Augereau P, Boehm T, Rabbitts T, Mannens M, Rochefort H, Jones C, Reassessment of breakpoints in chromosome 11p15. CYTOGENET CELL GENET 1993;62 (1):52-53 [PubMed]
Hoovers JM, Redeker E, Speleman F, Höppener JW, Bhola S, Bliek J, van Roy N, Leschot NJ, Westerveld A, Mannens M, High-resolution chromosomal localization of the human calcitonin/CGRP/IAPP gene family members. GENOMICS 1993;15 (3):525-529 [PubMed]
Little MH, Williamson KA, Mannens M, Kelsey A, Gosden C, Hastie ND, van Heyningen V, Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant-negative fashion. HUM MOL GENET 1993;2 (3):259-264 [PubMed]
Mannens M, Hoovers JM, Bleeker-Wagemakers EM, Mäntyjärvi M, Tuppurainen K, The importance of DNA analysis in sporadic aniridia. ACTA OPHTHALMOL 1993;71 (6):841-845 [PubMed]
Redeker E, van Moorsel CJ, Feinberg A, Mannens M, TaqI and RsaI polymorphisms in the H19 gene (D11S813E). HUM MOL GENET 1993;2 (6):823 [PubMed]
Heding IJ, Ivens AC, Wilson J, Strivens M, Gregory S, Hoovers JM, Mannens M, Redeker B, Porteous D, van Heyningen V, The generation of ordered sets of cosmid DNA clones from human chromosome region 11p. GENOMICS 1992;13 (1):89-94 [PubMed]
Hoovers JM, Dietrich AJ, Mannens MM, Imprinting and Beckwith-Wiedemann syndrome. LANCET 1992;339 (8803):1228 [PubMed]
Hoovers JM, Mannens M, John R, Bliek J, van Heyningen V, Porteous DJ, Leschot NJ, Westerveld A, Little PF, High-resolution localization of 69 potential human zinc finger protein genes: a number are clustered. GENOMICS 1992;12 (2):254-263 [PubMed]
Junien C, van Heyningen V, Evans G, Little P, Mannens M, Report of the second chromosome 11 workshop. GENOMICS 1992;12 (3):620-625 [PubMed]
Slater RM, Mannens MM, Cytogenetics and molecular genetics of Wilms' tumor of childhood. CANCER GENET CYTOGEN 1992;61 (2):111-121 [PubMed]
van den Ouweland AM, Verdijk M, Mannens MM, van Oost BA, The QM gene is X-linked and therefore not involved in suppression of tumorigenesis in Wilms' tumor. HUM GENET 1992;90 (1-2):144-146 [PubMed]
Devilee P, van den Broek M, Mannens M, Slater R, Cornelisse CJ, Westerveld A, Khan PM, Differences in patterns of allelic loss between two common types of adult cancer, breast and colon carcinoma, and Wilms' tumor of childhood. INT J CANCER 1991;47 (6):817-821 [PubMed]
Mannens M, Hoovers JM, Bleeker-Wagemakers EM, Redeker E, Bliek J, Overbeeke-Melkert M, Saunders G, Williams B, van Heyningen V, Junien C, The distal region of 11p13 and associated genetic diseases. GENOMICS 1991;11 (2):284-293 [PubMed]
Speleman F, Mannens M, Redeker B, Vercruyssen M, van Oostveldt P, Leroy J, Slater R, Characterization of a de novo duplication of 11p14----p13, using fluorescent in situ hybridization and southern hybridization. CYTOGENET CELL GENET 1991;56 (3-4):129-131 [PubMed]
Verbraak FD, Mannens MA, Redeker EJ, Saunders GF, Bleeker-Wagemakers EM, DNA diagnosis in a family with autosomal dominant aniridia. OPHTHALMIC PAEDIATR GENET 1991;12 (4):165-170 [PubMed]
Mannens M, Devilee P, Bliek J, Mandjes I, de Kraker J, Heyting C, Slater RM, Westerveld A, Loss of heterozygosity in Wilms' tumors, studied for six putative tumor suppressor regions, is limited to chromosome 11. CANCER RES 1990;50 (11):3279-3283 [PubMed]
Bout A, Hoovers JM, Bakker E, Mannens MM, Geurts van Kessel A, Westerveld A, Tager JM, Benne R, Assignment of the gene coding for human peroxisomal 3-oxoacyl-CoA thiolase (ACAA) to chromosome region 3p22----p23. CYTOGENET CELL GENET 1989;52 (3-4):147-150 [PubMed]
Mannens M, Bleeker-Wagemakers EM, Bliek J, Hoovers J, Mandjes I, van Tol S, Frants RR, Heyting C, Westerveld A, Slater RM, Autosomal dominant aniridia linked to the chromosome 11p13 markers catalase and D11S151 in a large Dutch family. CYTOGENET CELL GENET 1989;52 (1-2):32-36 [PubMed]
de Ronde A, Mannens M, Slater RM, Hoovers J, Heyting C, Bleeker-Wagemakers EM, Leschot NJ, van Strien A, Sol CJ, ter Schegget J, Morphological transformation by early region human polyomavirus BK DNA of human fibroblasts with deletions in the short arm of one chromosome 11. J GEN VIROL 1988;69 (2):467-471 [PubMed]
Mannens M, Slater RM, Heyting C, Bliek J, de Kraker J, Coad N, de Pagter-Holthuizen P, Pearson PL, Molecular nature of genetic changes resulting in loss of heterozygosity of chromosome 11 in Wilms' tumours. HUM GENET 1988;81 (1):41-48 [PubMed]
Mannens M, Slater RM, Heyting C, Geurts van Kessel A, Goedde-Salz E, Frants RR, van Ommen GJ, Pearson PL, Regional localization of DNA probes on the short arm of chromosome 11 using aniridia-Wilms' tumor-associated deletions. HUM GENET 1987;75 (2):180-187 [PubMed]
Key publications

Alders M, Hogan BM, Gjini E, Salehi F, Al-Gazali L, Hennekam EA, Holmberg EE, Mannens MMAM, Mulder MF, Offerhaus GJA, Prescott TE, Schroor EJ, Verheij JBGM, Witte M, Zwijnenburg PJ, Vikkula M, Schulte-Merker S, Hennekam RC, Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. NAT GENET 2009;41 (12):1272-1274 [PubMed]
Cordeddu V, Redeker B, Stellacci E, Jongejan A, Fragale A, Bradley TEJ, Anselmi M, Ciolfi A, Cecchetti S, Muto V, Bernardini L, Azage M, Carvalho DR, Espay AJ, Male A, Molin AM, Posmyk R, Battisti C, Casertano A, Melis D, van Kampen A, Baas F, Mannens MM, Bocchinfuso G, Stella L, Tartaglia M, Hennekam RC, Mutations in ZBTB20 cause Primrose syndrome. NAT GENET 2014;46 (8):815-817 [PubMed]
Hofman N, Tan HL, Alders M, Kolder I, de Haij S, Mannens MMAM, Lombardi MP, Lekanne Deprez RH, van Langen I, Wilde AAM, Yield of molecular and clinical testing for arrhythmia syndromes: report of 15 years' experience. CIRCULATION 2013;128 (14):1513-1521 [PubMed]
Bhuiyan ZA, van den Berg MP, van Tintelen JP, Bink-Boelkens MTE, Wiesfeld ACP, Alders M, Postma AV, van Langen I, Mannens MMAM, Wilde AAM, Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features. CIRCULATION 2007;116 (14):1569-1576 [PubMed]
Bliek J, Terhal P, van den Bogaard MJ, Maas S, Hamel B, Salieb-Beugelaar G, Simon M, Letteboer T, van der Smagt J, Kroes H, Mannens M, Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype. AM J HUM GENET 2006;78 (4):604-614 [PubMed]


All Publications

Research programmes

Genome diagnostics i.p. epigenetics of disease

In general, clinical molecular DNA-diagnostics leads to a broad field of research interest since many different human disorders are studied at the molecular level. Often, interesting scientific observations are made leading to new disease loci/genes or improved diagnostics/patient care.
Basic and Clinically applied research of the laboratory has been focused on the genetic aetiology of the Beckwith-Wiedemann syndrome and associated childhood tumours; genomic imprinting; cardiac arrhythmia's and conduction defects and congenital heart defects. Innovation of DNA-diagnostics is an ongoing field of research, in particular the use of micro-arrays for genome diagnostics, for epigenetics and the  introduction of massive parallel sequencing technology.
The nature of genomic imprinting and its consequences for human health will be further investigated, including biochemical analysis of the interaction of the various genes involved. Other human growth malformation syndromes are being included in the analysis, such as Silver Russell syndrome, Perlman syndrome, Sotos syndrome and Klippel Trenaunay Weber syndrome. From 2014 on, we are studying epigenetic regulation of genes in various clinical conditions, including trauma, child abuse and neglect and foetal alcohol syndrome. Cardiogenetics is a successful field of research in the AMC. We will continue to search for new genes and to identify the role of various genes in the development of cardiac disorders. In addition we will analyze patient cohorts in order to improve the DNA-diagnostics for this important group of patients.

Themes: Cardiovascular Diseases and Reproduction and Development (board member).

 

Faculty
Prof. dr. M.M.A.M. Mannens

Postdocs
Dr. M. Alders
Dr. H. Bikker
Dr. J. Bliek
Dr. P. Henneman
Dr. S. van Koningsbruggen
Dr. R.H. Lekanne dit Deprez
Dr. M.P. Lombardi
Dr. O.R.F. Mook
Dr. M.M. Motazacker PhD
Dr. A.V. Postma
Dr. E.J.W. Redeker

PhD Students
F.P. Chilunga
Drs. J. Ensink
Drs. I.M. Krzyzewska
A.Y.F. Li Yim
Drs. F. Russo

Other research related activities
  • board (R&D), University of Amsterdam
Current research funding
  • AMC
  • Amsterdam Neuroscience
  • Europese Unie
  • Stichting AMC Foundation (Vrijgesteld)