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Marielle Alders

Research Profile

Disorders

Anatomy

Chromosomes, Human, Pair 11

Physiology

Chemicals & Drugs

Procedures

Concepts & Ideas

Pedigree

Living Beings

Infants

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Publications

TOP 3
Daniela Q C M Barge-Schaapveld; Marielle Alders; Wolfgang Höhne; Stephan Kemp; Alida C Knegt; Rob Ofman; Raoul C M Hennekam
Intellectual Disability and Hemizygous GPD2 Mutation.
Marielle Alders; C Bellini; B Dallapiccola; P Edery; U Frank; L Adès; L Al Gazali; F Hornshuh; S A Huisman; S Jagadeesh; H Kayserili; W T Keng; D Lev; A Mendola; C E Prada; J R Sampson; J Schmidtke; V Shashi; Y van Bever; N Van der Aa; J M Verhagen; J B Verheij; M Vikkula; R C Hennekam
Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations.
H Segers; Marielle Alders; Rogier Kersseboom; Rob Pieters; Anja Wagner; Marry M van den Heuvel-Eibrink
Frequency of WT1 and 11p15 constitutional aberrations and phenotypic correlation in childhood Wilms tumour patients.

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All Publications

2013: Daniela Q C M Barge-Schaapveld; Marielle Alders; Wolfgang Höhne; Stephan Kemp; Alida C Knegt; Rob Ofman; Raoul C M Hennekam
Intellectual Disability and Hemizygous GPD2 Mutation.
American journal of medical genetics. Part A 2013;161(5):1044-50.
2013: Marielle Alders; C Bellini; B Dallapiccola; P Edery; U Frank; L Adès; L Al Gazali; F Hornshuh; S A Huisman; S Jagadeesh; H Kayserili; W T Keng; D Lev; A Mendola; C E Prada; J R Sampson; J Schmidtke; V Shashi; Y van Bever; N Van der Aa; J M Verhagen; J B Verheij; M Vikkula; R C Hennekam
Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations.
Molecular syndromology 2013;4(3):107-13.
2012: H Segers; Marielle Alders; Rogier Kersseboom; Rob Pieters; Anja Wagner; Marry M van den Heuvel-Eibrink
Frequency of WT1 and 11p15 constitutional aberrations and phenotypic correlation in childhood Wilms tumour patients.
European journal of cancer (Oxford, England : 1990) 2012;48(17):3249-56.
2012: John R Giudicessi; Jamie D Kapplinger; Benjamin A Salisbury; David J Tester; Arthur A M Wilde; Marielle Alders; Michael J Ackerman
Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome.
Circulation. Cardiovascular genetics 2012;5(5):519-28.
2012: Mark Wijnen; Christian M Zwaan; Marielle Alders; Anja Wagner; Marry M van den Heuvel-Eibrink
KCNQ1OT1 hypomethylation: a novel disguised genetic predisposition in sporadic pediatric adrenocortical tumors?
Pediatric blood & cancer 2012;59(3):565-6.
2012: Saskia M J Hopman; Chantal M van der Horst; Rick R Van Rijn; Marielle Alders; Johannes Bras; Charis Eng; Raoul C M Hennekam; Johannes H M Merks
PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.
American journal of medical genetics. Part A 2012;158A(7):1719-23.
2012: Eline A Nannenberg; Eric J G Sijbrands; Irene van Langen; J Peter van Tintelen; Marielle Alders; Martijn Birnie; Lea M Dijksman; Arthur A M Wilde
Mortality of inherited arrhythmia syndromes: insight into their natural history.
Circulation. Cardiovascular genetics 2012;5(2):183-9.
2012: Robert S de Wijn; Raoul C M Hennekam; Charlène E U Oduber; Marielle Alders; Corstiaan C Breugem; Chantal M A M van der Horst
Phenotypic variability in a family with capillary malformations caused by a mutation in the RASA1 gene.
European journal of medical genetics 2012;55(3):191-5.
2012: Remko Hersmus; Marielle Alders; Pascal Bernard; Hennie T Brüggenwirth; Suzan de Boer; Stenvert L S Drop; Vincent R Harley; Kenneth McElreavy; J Wolter Oosterhuis; Rajini Sreenivasan; hans stoop; Yvonne G van der Zwan; Stefan White; Katja P Wolffenbuttel; Leendert H J Looijenga
A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation.
PloS one 2012;7(7):e40858.
2012: Karin Huijsdens-van Amsterdam; Marielle Alders; Daniela Qcm Barge-Schaapveld; Inge B Mathijssen; Eva Pajkrt; Alida C Knegt
Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicism.
Molecular cytogenetics 2012;5(1):8.
2011: Taco W Kuijpers; Elisabeth A M Sanders; Mirjam van der Burg; Daan J Aan de Kerk; Marielle Alders; Paul A Baars; Robbert G M Bredius; Ingrid A M Derks; Machiel H Jansen; Rene A W van Lier
A novel mutation in CD132 causes X-CID with defective T-cell activation and impaired humoral reactivity.
The Journal of allergy and clinical immunology 2011;128(6):1360-1363.e4.
2011: Pieter G Postema; Marielle Alders; Imke Christiaans; Nynke Hofman; Arthur A M Wilde
[Premature sudden death--consider serious familial heart rhythm disturbances].
Nederlands tijdschrift voor geneeskunde 2011;155(39):A3391.
2010: Christian van der Werf; Nynke Hofman; Hanno L Tan; Pascal F H M van Dessel; Marielle Alders; Allard C van der Wal; Irene M van Langen; Arthur A M Wilde
Diagnostic yield in sudden unexplained death and aborted cardiac arrest in the young: the experience of a tertiary referral center in The Netherlands.
Heart rhythm : the official journal of the Heart Rhythm Society 2010;7(10):1383-9.
2010: Iris H I M Hollink; Marry M van den Heuvel-Eibrink; Martin Zimmermann; Brian Balgobind; Susan T C J M Arentsen-Peters; Marielle Alders; Andre Willasch; Gert-Jan J L Kaspers; Jan Trka; Andre Baruchel; Ursula Creutzig; Rob Pieters; Dirk Reinhardt; C Michel Zwaan
No prognostic impact of the WT1 gene single nucleotide polymorphism rs16754 in pediatric acute myeloid leukemia.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2010;28(28):e523-6; author reply e527-e528.
2010: David J Tester; Carmen R Valdivia; Carole Harris-Kerr; Marielle Alders; Salisbury Benjamin; Arthur A M Wilde; Jonathan C Makielski; Michael J Ackerman
Epidemiologic, molecular, and functional evidence suggest A572D-SCN5A should not be considered an independent LQT3-susceptibility mutation.
Heart rhythm : the official journal of the Heart Rhythm Society 2010;7(7):912-9.
2010: Nynke Hofman; Hanno L Tan; Marielle Alders; Irene M van Langen; Arthur A M Wilde
Active cascade screening in primary inherited arrhythmia syndromes: does it lead to prophylactic treatment?
Journal of the American College of Cardiology 2010;55(23):2570-6.
2010: Jamie D Kapplinger; David J Tester; Marielle Alders; Begoña Benito; Myriam Berthet; Josep Brugada; Pedro Brugada; Véronique Fressart; Alejandra Guerchicoff; Carole Harris-Kerr; Shiro Kamakura; Florence Kyndt; Tamara T Koopmann; Yoshihiro Miyamoto; Ryan Pfeiffer; Guido D Pollevick; Vincent Probst; Sven Zumhagen; Matteo Vatta; Jeffrey A Towbin; Wataru Shimizu; Eric Schulze-Bahr; Charles Antzelevitch; Salisbury Benjamin; Pascale Guicheney; Arthur A M Wilde; Ramon Brugada; Jean-Jacques Schott; Michael J Ackerman
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
Heart rhythm : the official journal of the Heart Rhythm Society 2010;7(1):33-46.
2009: Marielle Alders; Benjamin M Hogan; Evisa Gjini; Faranak Salehi; Lihadh Al-Gazali; Eric A Hennekam; Eva E Holmberg; Marcel M A M Mannens; Margot F Mulder; G Johan A Offerhaus; Trine E Prescott; Eelco J Schroor; Joke B G M Verheij; Merlijn Witte; Petra J Zwijnenburg; Mikka Vikkula; Stefan Schulte-Merker; Raoul Hennekam
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.
Nature genetics 2009;41(12):1272-4.
2009: Jet Bliek; Marielle Alders; Saskia M Maas; Roelof-Jan Oostra; Deborah M Mackay; Karin van der Lip; Johnatan L Callaway; Alice Brooks; Sandra van 't Padje; Andries Westerveld; Nico J Leschot; marcel mannens
Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells.
European journal of human genetics : EJHG 2009;17(12):1625-34.
2009: Suraj Kapa; David J Tester; Benjamin A Salisbury; Carole Harris-Kerr; Manish S Pungliya; Marielle Alders; Arthur A M Wilde; Michael J Ackerman
Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.
Circulation 2009;120(18):1752-60.
2009: Jet Bliek; S Snijder; Saskia M Maas; A Polstra; K van der Lip; Marielle Alders; Alida C Knegt; M M A M Mannens
Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions.
European journal of medical genetics 2009;52(6):404-8.
2009: Iris H I M Hollink; Marry M van den Heuvel-Eibrink; Martin Zimmermann; Brian Balgobind; Susan T C J M Arentsen-Peters; Marielle Alders; Andre Willasch; G J L Kaspers; Jan Trka; Andre Baruchel; Siebold S N de Graaf; Ursula Creutzig; Rob Pieters; Dirk Reinhardt; Christian M Zwaan
Clinical relevance of Wilms tumor 1 gene mutations in childhood acute myeloid leukemia.
Blood 2009;113(23):5951-60.
2009: Marielle Alders; Tamara T Koopmann; Imke Christiaans; Pieter G Postema; Leander Beekman; Michael W T Tanck; Katja Zeppenfeld; Peter Loh; Karel T Koch; Sophie Demolombe; marcel mannens; Connie R Bezzina; Arthur A M Wilde
Haplotype-sharing analysis implicates chromosome 7q36 harboring DPP6 in familial idiopathic ventricular fibrillation.
American journal of human genetics 2009;84(4):468-76.
2009: Marielle Alders; Jet Bliek; Karin vd Lip; Ruud vd Bogaard; marcel mannens
Determination of KCNQ1OT1 and H19 methylation levels in BWS and SRS patients using methylation-sensitive high-resolution melting analysis.
European journal of human genetics : EJHG 2009;17(4):467-73.
2008: Rieneke T Lugtenberg; Karlien Cransberg; Walter J Loos; Anja Wagner; Marielle Alders; Marry M van den Heuvel-Eibrink
Topotecan distribution in an anephric infant with therapy-resistant bilateral Wilms tumor with a novel germline WT1 gene mutation.
Cancer chemotherapy and pharmacology 2008;62(6):1039-44.
2008: Zahurul A Bhuiyan; Tarek S Momenah; Ahmad S Amin; Ayman S al-Khadra; Marielle Alders; Arthur A M Wilde; marcel mannens
An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome.
Progress in biophysics and molecular biology 2008;98(2-3):319-27.
2008: Jet Bliek; Saskia M Maas; Marielle Alders; Johannes H M Merks; marcel mannens
Epigenotype, phenotype, and tumors in patients with isolated hemihyperplasia.
The Journal of pediatrics 2008;153(1):95-100.
2007: Zahurul A Bhuiyan; Maarten P van den Berg; J Peter van Tintelen; Margreet Th E Bink-Boelkens; Ans C P Wiesfeld; Marielle Alders; Alex V Postma; Irene M van Langen; marcel mannens; Arthur A M Wilde
Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features.
Circulation 2007;116(14):1569-76.
2007: Nynke Hofman; Hanno L Tan; Sally-Ann Barker Clur; Marielle Alders; Irene M van Langen; Arthur A M Wilde
Contribution of inherited heart disease to sudden cardiac death in childhood.
Pediatrics 2007;120(4):e967-73.
2007: Tamara T Koopmann; Leander Beekman; Marielle Alders; Paola G Meregalli; marcel mannens; Antoon F M Moorman; Arthur A M Wilde; Connie R Bezzina
Exclusion of multiple candidate genes and large genomic rearrangements in SCN5A in a Dutch Brugada syndrome cohort.
Heart rhythm : the official journal of the Heart Rhythm Society 2007;4(6):752-5.
2007: Nynke Hofman; P G Postema; Irene M van Langen; E A Nannenberg; Marielle Alders; Roselie J Jongbloed; H J M Smeets; Arthur A M Wilde
[Genetic identification of patients and families with a long-QT syndrome: large regional differences in the result of 10 years].
Nederlands tijdschrift voor geneeskunde 2007;151(11):644-8.
2006: Tamara T Koopmann; Marielle Alders; Roselie J Jongbloed; Silvia Guerrero; marcel mannens; Arthur A M Wilde; Connie R Bezzina
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 : the official journal of the Heart Rhythm Society 2006;3(1):52-5.
2005: Alex V Postma; Isabelle Denjoy; J Kamblock; Marielle Alders; Jean-Marc Lupoglazoff; Guy Vaksmann; L Dubosq-Bidot; Pascale Sebillon; marcel mannens; Pascale Guicheney; Arthur A M Wilde
Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients.
Journal of medical genetics 2005;42(11):863-70.
2005: Clara D M van Karnebeek; Frederike Y Scheper; N G G M Abeling; Marielle Alders; Peter G Barth; Jan M N Hoovers; Cindy Koevoets; Ronald J A Wanders; Raoul Hennekam
Etiology of mental retardation in children referred to a tertiary care center: a prospective study.
American journal of mental retardation : AJMR 2005;110(4):253-67.
2005: Taco W Kuijpers; Marielle Alders; Anton T J Tool; Clemens Mellink; Dirk Roos; Raoul Hennekam
Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship.
Blood 2005;106(1):356-61.
2004: Clemens Mellink; Marielle Alders; H van der Lelie; Raoul Hennekam; Taco W Kuijpers
SBDS mutations and isochromosome 7q in a patient with Shwachman-Diamond syndrome: no predisposition to malignant transformation?
Cancer genetics and cytogenetics 2004;154(2):144-9.
2004: Taco W Kuijpers; Eline Nannenberg; Marielle Alders; R G M Bredius; Raoul Hennekam
Congenital aplastic anemia caused by mutations in the SBDS gene: a rare presentation of Shwachman-Diamond syndrome.
Pediatrics 2004;114(3):e387-91.
2004: Chloé Bellocq; Antoni C G van Ginneken; Connie R Bezzina; Marielle Alders; Denis Escande; marcel mannens; Isabelle Baro; Arthur A M Wilde
Mutation in the KCNQ1 gene leading to the short QT-interval syndrome.
Circulation 2004;109(20):2394-7.
2003: Marielle Alders; Roselie J Jongbloed; Wout Deelen; Arthur van den Wijngaard; Pieter A Doevendans; Folkert J Ten Cate; Vera Regitz-Zagrosek; Hans-Peter Vosberg; Irene M van Langen; Arthur Wilde; Dennis Dooijes; marcel mannens
The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands.
European heart journal 2003;24(20):1848-53.
2003: Judith Gianotten; Fulco van der Veen; Marielle Alders; Nico J Leschot; Michael W T Tanck; Jolande A Land; Jan A M Kremer; Lies Hoefsloot; marcel mannens; M Paola Lombardi; Mariëtte J V Hoffer
Chromosomal region 11p15 is associated with male factor subfertility.
Molecular human reproduction 2003;9(10):587-92.
2003: Irene M van Langen; Erwin Birnie; Marielle Alders; Roselie J Jongbloed; H Le Marec; Arthur A M Wilde
The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome.
Journal of medical genetics 2003;40(2):141-5.
2002: Inge D C Van Balkom; Marielle Alders; Judith E Allanson; Carlo Bellini; Ulrich Frank; Greetje De Jong; Ingeborg Kolbe; Didier Lacombe; Stan Rockson; Peter C Rowe; Frits A Wijburg; Raoul Hennekam
Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review.
American journal of medical genetics 2002;112(4):412-21.
2002: Clifton B Meije; Pranab K Das; Miranda Jans; Chi Hau; Allard C van der Wal; Marielle Alders; Theodorus B M Hakvoort; Ulrich H Weidle; Wouter H Lamers; Guido W M Swart
Multiple complementary transcripts of pCMa1, a novel gene located at chromosome 11p15.1-2, and melanocytic cell transformation.
The Journal of pathology 2002;197(5):668-76.
2002: Corstiaan C Breugem; Marielle Alders; Georgette B Salieb-Beugelaar; marcel mannens; Chantal M A M van der Horst; Raoul Hennekam
A locus for hereditary capillary malformations mapped on chromosome 5q.
Human genetics 2002;110(4):343-7.
2002: Chantal E Conrath; Arthur A M Wilde; Roselie J Jongbloed; Marielle Alders; Irene M van Langen; J Peter van Tintelen; Pieter A Doevendans; Tobias Opthof
Gender differences in the long QT syndrome: effects of beta-adrenoceptor blockade.
Cardiovascular research 2002;53(3):770-6.
2001: Jet Bliek; Saskia M Maas; J M Ruijter; Raoul Hennekam; Marielle Alders; Andries Westerveld; marcel mannens
Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS.
Human molecular genetics 2001;10(5):467-76.
2000: Marielle Alders; A Ryan; M Hodges; Jet Bliek; Andrew P Feinberg; O Privitera; Andries Westerveld; P F Little; marcel mannens
Disruption of a novel imprinted zinc-finger gene, ZNF215, in Beckwith-Wiedemann syndrome.
American journal of human genetics 2000;66(5):1473-84.
1999: TM Hoorntje; Marielle Alders; P van Tintelen; K van der Lip; Narayanswami Sreeram; Allard C van der Wal; marcel mannens; Arthur Wilde
Homozygous premature truncation of the HERG protein : the human HERG knockout.
Circulation 1999;100(12):1264-7.
1999: marcel mannens; Marielle Alders
Genomic imprinting: concept and clinical consequences.
Annals of medicine 1999;31(1):4-11.
1997: Cees B M Oudejans; Bart A Westerman; Evert-Jan van Elk; Andrea A M Könst; Monique A M Mulders; Marielle Alders; John M G van Vugt; Inge J van Wijk; marcel mannens
Growth regulation of extraembryonic tissues. The effect of genomic imprinting on development of the placenta.
European journal of obstetrics, gynecology, and reproductive biology 1997;75(1):29-32.
1997: M Andrew Nesbit; M D Hodges; L Campbell; T M de Meulemeester; Marielle Alders; NR Rodrigues; Kevin Talbot; AM Theodosiou; marcel mannens; Y Nakamura; P F Little; Kay E Davies
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):284-94.
1997: Marielle Alders; M Hodges; Anna-Katerina Hadjantonakis; J Postmus; Inge J van Wijk; Jet Bliek; M de Meulemeester; Andries Westerveld; F Guillemot; Cees B M Oudejans; P Little; marcel mannens
The human Achaete-Scute homologue 2 (ASCL2,HASH2) maps to chromosome 11p15.5, close to IGF2 and is expressed in extravillus trophoblasts.
Human molecular genetics 1997;6(6):859-67.
1996: Marielle Alders; Jet Bliek; B Redeker; A Ryan; Andrew P Feinberg; Andries Westerveld; P Little; marcel mannens
Cloning of candidate genes involved in the Beckwith-Wiedemann syndrome and childhood tumors.
Medical and pediatric oncology 1996;27(5):495-7.
1996: marcel mannens; Marielle Alders; B Redeker; Jet Bliek; MJ Steenman; C Wiesmeyer; M de Meulemeester; A Ryan; Linda M Kalikin; T Voûte; Jan de Kraker; Jan M N Hoovers; Rosalyn Slater; Andrew P Feinberg; P Little; Andries Westerveld
Positional cloning of genes involved in the Beckwith-Wiedemann syndrome, hemihypertrophy, and associated childhood tumors.
Medical and pediatric oncology 1996;27(5):490-4.
1996: T B Shows; Marielle Alders; S Bennett; D Burbee; P Cartwright; S Chandrasekharappa; P Cooper; Anouk Courseaux; C Davies; M D Devignes; P Devilee; R Elliott; G Evans; J Fantes; H Garner; Patrick Gaudray; D S Gerhard; M Gessler; M Higgins; Holger Hummerich; M James; J Lagercrantz; M Litt; P Little; B Zabel
Report of the Fifth International Workshop on Human Chromosome 11 Mapping 1996.
Cytogenetics and cell genetics 1996;74(1-2):1-56.
1995: Jan M N Hoovers; Linda M Kalikin; L A Johnson; Marielle Alders; B Redeker; David J Law; Jet Bliek; MJ Steenman; M Benedict; Joop Wiegant; Christoph Lengauer; P Taillon-Miller; David Schlessinger; M C Edwards; Stephen J Elledge; Alasdair Ivens; Andries Westerveld; P Little; marcel mannens; Andrew P Feinberg
Multiple genetic loci within 11p15 defined by Beckwith-Wiedemann syndrome rearrangement breakpoints and subchromosomal transferable fragments.
Proceedings of the National Academy of Sciences of the United States of America 1995;92(26):12456-60.
1995: E Redeker; Marielle Alders; Jan M N Hoovers; C W Richard; Andries Westerveld; marcel mannens
Physical mapping of 3 candidate tumor suppressor genes relative to Beckwith-Wiedemann syndrome associated chromosomal breakpoints at 11p15.3.
Cytogenetics and cell genetics 1995;68(3-4):222-5.
1994: E Redeker; Jan M N Hoovers; Marielle Alders; C J van Moorsel; Alasdair Ivens; S Gregory; Linda M Kalikin; Jet Bliek; L de Galan; R van den Bogaard
An integrated physical map of 210 markers assigned to the short arm of human chromosome 11.
Genomics 1994;21(3):538-50.