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Ben Hamel

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Anneke T Vulto-van Silfhout; Michèl A A P Willemsen; Helger G Yntema; Thomas G Boyer; Han G Brunner; Bert B A de Vries; Fangjian Gao; Christian Gilissen; Ben C J Hamel; Cornelis L Harteveld; Alexander Hoischen; Tjitske Kleefstra; Martina Ruiterkamp-Versteeg; Hans van Bokhoven; Bregje W M van Bon; Anthonie J van Essen; Marloes van Zwam; Arjan P M de Brouwer
Mutations in MED12 cause X-linked Ohdo syndrome.
Farmaditya E P Mundhofir; Willy M Nillesen; Dominique Smeets; Nicole de Leeuw; Sultana M H Faradz; Ben C J Hamel; Tri Indah Winarni; Helger G Yntema; Bregje W M van Bon
Monosomy 9pter and trisomy 9q34.11qter in two sisters due to a maternal pericentric inversion.
Farmaditya E P Mundhofir; Willy M Nillesen; Dominique Smeets; Bregje W van Bon; Tri Indah Winarni; Siti Aminah; Sultana M H Faradz; Ben C J Hamel; Gerard Merkx; Helger G Yntema
A cytogenetic study in a large population of intellectually disabled Indonesians.

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All Publications

2013: Anneke T Vulto-van Silfhout; Michèl A A P Willemsen; Helger G Yntema; Thomas G Boyer; Han G Brunner; Bert B A de Vries; Fangjian Gao; Christian Gilissen; Ben C J Hamel; Cornelis L Harteveld; Alexander Hoischen; Tjitske Kleefstra; Martina Ruiterkamp-Versteeg; Hans van Bokhoven; Bregje W M van Bon; Anthonie J van Essen; Marloes van Zwam; Arjan P M de Brouwer
Mutations in MED12 cause X-linked Ohdo syndrome.
American journal of human genetics 2013;92(3):401-6.
2012: Farmaditya E P Mundhofir; Willy M Nillesen; Dominique Smeets; Nicole de Leeuw; Sultana M H Faradz; Ben C J Hamel; Tri Indah Winarni; Helger G Yntema; Bregje W M van Bon
Monosomy 9pter and trisomy 9q34.11qter in two sisters due to a maternal pericentric inversion.
Gene 2012;511(2):451-4.
2012: Farmaditya E P Mundhofir; Willy M Nillesen; Dominique Smeets; Bregje W van Bon; Tri Indah Winarni; Siti Aminah; Sultana M H Faradz; Ben C J Hamel; Gerard Merkx; Helger G Yntema
A cytogenetic study in a large population of intellectually disabled Indonesians.
Genetic testing and molecular biomarkers 2012;16(5):412-7.
2012: Nicol C Voermans; Carsten G Bönnemann; M C Janssen; M Kempers; Martin Lammens; Nens van Alfen; B G M van Engelen; Ben C J Hamel
Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation.
American journal of medical genetics. Part A 2012;158A(4):850-5.
2012: Marjolein H Willemsen; Han G Brunner; Joep de Ligt; Bert B A de Vries; Ben C J Hamel; Thessa Kroes; Dorien Lugtenberg; Jeroen Schoots; Hans van Bokhoven; Bregje W M van Bon; Joris Veltman; Lisenka E L M Vissers; Michèl A A P Willemsen; Tjitske Kleefstra
Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.
Journal of medical genetics 2012;49(3):179-83.
2012: Rose H Mende; Raimos M Olomi; David P Drake; Ben C J Hamel
Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation.
Case reports in genetics 2012;2012():247683.
2012: Farmaditya E P Mundhofir; Sultana M H Faradz; Ben C J Hamel; Ineke van der Burgt; Helger G Yntema; Bregje W M van Bon
Mowat-Wilson syndrome: the first clinical and molecular report of an indonesian patient.
Case reports in genetics 2012;2012():949507.
2011: Marjolein H Willemsen; Willemijn M Wissink-Lindhout; Joris Andrieux; Armaz Aschrafi; Marjolein C Coppens-Hofman; Arjan P M de Brouwer; Ben C J Hamel; Muriel Holder-Espinasse; Laurens A M H Kirkels; Aron Kos; Mathilde Mastebroek; Willy M Nillesen; Nikkie Olde Loohuis; Rolph Pfundt; Hanneke Rensen; Louis Vallée; Astrid Vallès; Hans van Bokhoven; Tjitske Kleefstra
Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability.
Journal of medical genetics 2011;48(12):810-8.
2011: Cecilie Bredrup; Emilie Filhol; Torunn Fiskerstrand; Christian Gilissen; Ben C J Hamel; Olav H Haugen; Alexander Hoischen; Cécile Jeanpierre; Per M Knappskog; Nine V A M Knoers; Sabine Leh; Dorus A Mans; Marie Matignon; Marit Midtbø; Patrick Nitschké; Machteld M Oud; Rolph Pfundt; Eyvind Rødahl; Ronald Roepman; Jan-Stephan F Sanders; Sophie Saunier; Eric J Steenbergen; Irene Stolte-Dijkstra; Joris A Veltman; Christine Bole-Feysot; Helge Boman; Damien Brackman; Heleen H Arts
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.
American journal of human genetics 2011;89(5):634-43.
2011: Y Hilhorst-Hofstee; Ben C J Hamel; Joke B G M Verheij; Marry E B Rijlaarsdam; Grazia M S Mancini; Jan M Cobben; Cindy Giroth; Claudia Ruivenkamp; K B M Hansson; Janneke Timmermans; Henriette A Moll; Martijn H Breuning; Gerard Pals
The clinical spectrum of complete FBN1 allele deletions.
European journal of human genetics : EJHG 2011;19(3):247-52.
2011: Marjolein H Willemsen; Nicole de Leeuw; Catherine Mercer; Helen Eisenhauer; Joanne Morris; Morag N Collinson; John C K Barber; Stephen T S Lam; Ivan F M Lo; Hanneke Rensen; Annemarie Ferwerda; Ben C J Hamel; Tjitske Kleefstra
Further molecular and clinical delineation of the Wisconsin syndrome phenotype associated with interstitial 3q24q25 deletions.
American journal of medical genetics. Part A 2011;155A(1):106-12.
2010: Y Hilhorst-Hofstee; Marry E B Rijlaarsdam; Arthur J H A Scholte; Marietta Swart-van den Berg; Michel I M Versteegh; Iris van der Schoot-van Velzen; Hans-Joachim Schäbitz; Emilia K Bijlsma; Marieke J Baars; Wilhelmina S Kerstjens-Frederikse; Jacques C Giltay; Ben C J Hamel; Martijn H Breuning; Gerard Pals
The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family.
Human mutation 2010;31(12):E1915-27.
2010: Dorien Lugtenberg; Luiz Zangrande-Vieira; Maria Kirchhoff; Annabel C Whibley; Astrid R Oudakker; Susanne Kjaergaard; Angela M Vianna-Morgante; Tjitske Kleefstra; Mariken Ruiter; Fernanda S Jehee; Reinhard Ullmann; Charles E Schwartz; Michael Stratton; F Lucy Raymond; Joris Veltman; Terry Vrijenhoek; Rolph Pfundt; Janneke H M Schuurs-Hoeijmakers; Jayne Y Hehir-Kwa; Guy Froyen; Jamel Chelly; Hans-Hilger Ropers; Claude Moraine; Jozef Gècz; Jeroen Knijnenburg; Sarina G Kant; Ben C J Hamel; Carla Rosenberg; Hans van Bokhoven; Arjan de Brouwer
Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation.
American journal of medical genetics. Part A 2010;152A(3):638-45.
2010: J de Vries; Jan L Yntema; CE van Die; Niels Crama; Elisabeth A M Cornelissen; Ben C J Hamel
Jeune syndrome: description of 13 cases and a proposal for follow-up protocol.
European journal of pediatrics 2010;169(1):77-88.
2009: Bernard Echenne; Agathe Roubertie; Dorien Lugtenberg; Titske Kleefstra; Ben C J Hamel; Hans Van Bokhoven; Didier Lacombe; Christophe Philippe; Philippe Jonveaux; Arjan de Brouwer
Neurologic aspects of MECP2 gene duplication in male patients.
Pediatric neurology 2009;41(3):187-91.
2009: Nicol C Voermans; J Timmermans; Nens van Alfen; Sigrid Pillen; J op den Akker; Martin Lammens; Machiel J Zwarts; I A L M van Rooij; Ben C J Hamel; B G M van Engelen
Neuromuscular features in Marfan syndrome.
Clinical genetics 2009;76(1):25-37.
2009: Nicol C Voermans; Nens van Alfen; Sigrid Pillen; Martin Lammens; Joost Schalkwijk; Machiel J Zwarts; Iris A van Rooij; Ben C J Hamel; B G M van Engelen
Neuromuscular involvement in various types of Ehlers-Danlos syndrome.
Annals of neurology 2009;65(6):687-97.
2009: Dorien Lugtenberg; Tjitske Kleefstra; Astrid R Oudakker; Willy M Nillesen; Helger G Yntema; Andreas Tzschach; Martine Raynaud; Dietz Rating; Hubert Journel; Jamel Chelly; Cyril Goizet; Didier Lacombe; Jean-Michel Pedespan; Bernard Echenne; Gholamali Tariverdian; Declan O'Rourke; Mary D King; Andrew Green; Margriet van Kogelenberg; Hilde Van Esch; Jozef Gecz; Ben C J Hamel; Hans van Bokhoven; Arjan de Brouwer
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.
European journal of human genetics : EJHG 2009;17(4):444-53.
2009: Dorien Lugtenberg; Arjan de Brouwer; Astrid R Oudakker; Rolph Pfundt; Ben C J Hamel; Hans van Bokhoven; Ernie M H F Bongers
Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax.
American journal of medical genetics. Part A 2009;149A(4):760-6.
2009: Nicol C Voermans; Carsten G Bönnemann; Ben C J Hamel; Heinz Jungbluth; B G M van Engelen
Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies.
Journal of neurology 2009;256(1):13-27.
2008: Nicol C Voermans; Carsten G Bönnemann; P A Huijing; Ben C J Hamel; Toin H van Kuppevelt; Arnold De Haan; Joost Schalkwijk; B G M van Engelen; Guido J Jenniskens
Clinical and molecular overlap between myopathies and inherited connective tissue diseases.
Neuromuscular disorders : NMD 2008;18(11):843-56.
2008: Ofir T Betsalel; Jiddeke M van de Kamp; Cristina Martínez-Muñoz; Efraim H. Rosenberg; Arjan de Brouwer; Petra J W Pouwels; Marjo S van der Knaap; Grazia M S Mancini; Cornelis Jakobs; Ben C J Hamel; Gajja S Salomons
Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency.
Neurogenetics 2008;9(3):183-90.
2007: E Mariken Ruiter; David A Koolen; Tjitske Kleefstra; Willy M Nillesen; Rolph Pfundt; Nicole de Leeuw; Ben C J Hamel; Han G Brunner; Erik A Sistermans; Bert B A de Vries
Pure subtelomeric microduplications as a cause of mental retardation.
Clinical genetics 2007;72(4):362-8.
2007: Nicol C Voermans; Guido J Jenniskens; Ben C J Hamel; Joost Schalkwijk; Pascale Guicheney; B G M van Engelen
Ehlers-Danlos syndrome due to tenascin-X deficiency: muscle weakness and contractures support overlap with collagen VI myopathies.
American journal of medical genetics. Part A 2007;143A(18):2215-9.
2007: Arjan de Brouwer; Kelly L Williams; John A Duley; André B P van Kuilenburg; Sander B Nabuurs; Michael Egmont-Petersen; Dorien Lugtenberg; Lida Zoetekouw; Martijn J G Banning; Melissa Roeffen; Ben C J Hamel; Linda S Weaving; Robert Ouvrier; Jennifer A Donald; Ron A Wevers; John Christodoulou; Hans van Bokhoven
Arts syndrome is caused by loss-of-function mutations in PRPS1.
American journal of human genetics 2007;81(3):507-18.
2007: Bert B A de Vries; Gerard Pals; Roelof Odink; Ben C J Hamel
Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndrome.
European journal of human genetics : EJHG 2007;15(9):930-5.
2007: Nicol C Voermans; TM Altenburg; Ben C J Hamel; Arnold De Haan; B G M van Engelen
Reduced quantitative muscle function in tenascin-X deficient Ehlers-Danlos patients.
Neuromuscular disorders : NMD 2007;17(8):597-602.
2006: Reha M Toydemir; Harold Chen; Virginia K Proud; Rick Martin; Hans van Bokhoven; Ben C J Hamel; Joep H Tuerlings; Constantine Straturis; Lynn B Jorde; Michael Bamshad
Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8.
American journal of medical genetics. Part A 2006;140(22):2387-93.
2006: Ilse Feenstra; David A Koolen; J Van der Pas; Ben C J Hamel; Hanneke Mieloo; Dominique Smeets; Conny van Ravenswaaij-Arts
Cryptic duplication of the distal segment of 22q due to a translocation (21;22): three case reports and a review of the literature.
European journal of medical genetics 2006;49(5):384-95.
2006: Yanick J Crow; Bruce E Hayward; Rekha Parmar; Peter Robins; Andrea Leitch; Manir Ali; Deborah N Black; Hans van Bokhoven; Han G Brunner; Ben C J Hamel; Peter Corry; Frances M Cowan; Suzanna G M Frints; Joerg Klepper; John H Livingston; Sally Ann Lynch; Roger F Massey; Jean François Meritet; Jacques L Michaud; Gerard Ponsot; Thomas Voit; Pierre Lebon; David T Bonthron; Andrew P Jackson; Deborah E Barnes; Tomas Lindahl
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.
Nature genetics 2006;38(8):917-20.
2006: Tjitske Kleefstra; Han G Brunner; Jeanne Amiel; Astrid R Oudakker; Willy M Nillesen; Alex Magee; David Geneviève; Valérie Cormier-Daire; Hilde Van Esch; Jean-Pierre Fryns; Ben C J Hamel; Erik A Sistermans; Bert B A de Vries; Hans van Bokhoven
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.
American journal of human genetics 2006;79(2):370-7.
2006: Nicol C Voermans; Gea Drost; A van Kampen; A A Gabreëls-Festen; Martin Lammens; Ben C J Hamel; Joost Schalkwijk; B G M van Engelen
Recurrent neuropathy associated with Ehlers-Danlos syndrome.
Journal of neurology 2006;253(5):670-1.
2006: Dorien Lugtenberg; Arjan de Brouwer; Tjitske Kleefstra; Astrid R Oudakker; Suzanna G M Frints; C T R M Schrander-Stumpel; Jean-Pierre Fryns; Lars Riff Jensen; Jamel Chelly; Claude Moraine; Gillian Turner; Joris Veltman; Ben C J Hamel; Bert B A de Vries; Hans van Bokhoven; Helger G Yntema
Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.
Journal of medical genetics 2006;43(4):362-70.
2006: Tjitske Kleefstra; David A Koolen; Willy M Nillesen; Nicole de Leeuw; Ben C J Hamel; Joris Veltman; Erik A Sistermans; Hans van Bokhoven; Conny van Ravenswaay; Bert B A de Vries
Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome.
American journal of medical genetics. Part A 2006;140(6):618-23.
2006: Dorien Lugtenberg; Helger G Yntema; Martijn J G Banning; Astrid R Oudakker; Helen V Firth; Lionel Willatt; Martine Raynaud; Tjitske Kleefstra; Jean-Pierre Fryns; Hans-Hilger Ropers; Jamel Chelly; Claude Moraine; Jozef Gecz; Jeroen van Reeuwijk; Sander B Nabuurs; Bert B A de Vries; Ben C J Hamel; Arjan de Brouwer; Hans van Bokhoven
ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation.
American journal of human genetics 2006;78(2):265-78.
2006: Kazumichi Furuyama; Hideo Harigae; Tom Heller; Ben C J Hamel; Elisabeth I Minder; Toru Shimizu; Tadao Kuribara; Nicole Blijlevens; Shigeki Shibahara; Shigeru Sassa
Arg452 substitution of the erythroid-specific 5-aminolaevulinate synthase, a hot spot mutation in X-linked sideroblastic anaemia, does not itself affect enzyme activity.
European journal of haematology 2006;76(1):33-41.
2005: Frédéric Laumonnier; S Holbert; Nathalie Ronce; F Faravelli; Steffen Lenzner; C E Schwartz; James Lespinasse; Hilde Van Esch; D Lacombe; C Goizet; F Phan-Dinh Tuy; Hans van Bokhoven; Jean-Pierre Fryns; Jamel Chelly; Hans-Hilger Ropers; Claude Moraine; Ben C J Hamel; Sylvain Briault
Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate.
Journal of medical genetics 2005;42(10):780-6.
2005: Tjitske Kleefstra; Efraim H. Rosenberg; Gajja S Salomons; Hans Stroink; Hans van Bokhoven; Ben C J Hamel; Bert B A de Vries
Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation.
Clinical genetics 2005;68(4):379-81.
2005: Tjitske Kleefstra; Ben C J Hamel
X-linked mental retardation: further lumping, splitting and emerging phenotypes.
Clinical genetics 2005;67(6):451-67.
2005: Roger E Stevenson; C W Bennett; fatima abidi; Tjitske Kleefstra; M Porteous; Richard J Simensen; Herbert A Lubs; Ben C J Hamel; Charles E Schwartz
Renpenning syndrome comes into focus.
American journal of medical genetics. Part A 2005;134(4):415-21.
2005: Tjitske Kleefstra; M Smidt; Martijn J G Banning; Astrid R Oudakker; Hilde Van Esch; Arjan de Brouwer; Willy M Nillesen; Erik A Sistermans; Ben C J Hamel; Diederik R H de Bruijn; Jean-Pierre Fryns; Helger G Yntema; Han G Brunner; Bert B A de Vries; Hans van Bokhoven
Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.
Journal of medical genetics 2005;42(4):299-306.
2005: Hans-Hilger Ropers; Ben C J Hamel
X-linked mental retardation.
Nature reviews. Genetics 2005;6(1):46-57.
2004: Tjitske Kleefstra; C E Franken; Y H J M Arens; Ger J A Ramakers; Helger G Yntema; Erik A Sistermans; C F C H Hulsmans; W N Nillesen; Hans van Bokhoven; Bert B A de Vries; Ben C J Hamel
Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1).
Clinical genetics 2004;66(4):318-26.
2004: Marianne R Faber; René Verlaak; Theo J W Fiselier; Ben C J Hamel; Marcel J A M Franssen; G Peter J M Gerrits
Inherited multicentric osteolysis with carpal-tarsal localisation mimicking juvenile idiopathic arthritis.
European journal of pediatrics 2004;163(10):612-8.
2004: Lisenka E L M Vissers; Conny van Ravenswaaij-Arts; Ronald J C Admiraal; Jane A Hurst; Bert B A de Vries; Irene M Janssen; Walter A Van Der Vliet; Erik H L P G Huys; Pieter J de Jong; Ben C J Hamel; Eric F P M Schoenmakers; Han G Brunner; Joris Veltman; Ad Geurts van Kessel
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.
Nature genetics 2004;36(9):955-7.
2004: Ernie M H F Bongers; Pascal Duijf; Sylvia van Beersum; Jeroen Schoots; Albert Van Kampen; Andreas Burckhardt; Ben C J Hamel; Frantisek Losan; Lies Hoefsloot; Helger G Yntema; Nine V A M Knoers; Hans van Bokhoven
Mutations in the human TBX4 gene cause small patella syndrome.
American journal of human genetics 2004;74(6):1239-48.
2004: Tjitske Kleefstra; Helger G Yntema; Astrid R Oudakker; Martijn J G Banning; Vera Kalscheuer; Jamel Chelly; Claude Moraine; Hans-Hilger Ropers; Jean-Pierre Fryns; I M Janssen; Erik A Sistermans; W N Nillesen; L B A de Vries; Ben C J Hamel; Hans van Bokhoven
Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation.
Journal of medical genetics 2004;41(5):394-9.
2004: Sascha Vermeer; Aad Verrips; Michèl A A P Willemsen; Henk ter Laak; Ieke B Ginjaar; Ben C J Hamel
Novel mutations in three patients with LGMD2C with phenotypic differences.
Pediatric neurology 2004;30(4):291-4.
2004: Frédéric Laumonnier; Frédérique Bonnet-Brilhault; Marie Gomot; Romuald Blanc; Albert David; Marie-Pierre Moizard; Martine Raynaud; Nathalie Ronce; Eric Lemonnier; Patrick Calvas; Béatrice Laudier; Jamel Chelly; Jean-Pierre Fryns; Hans-Hilger Ropers; Ben C J Hamel; Christian Andres; Catherine Barthélémy; Claude Moraine; Sylvain Briault
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family.
American journal of human genetics 2004;74(3):552-7.
2004: Lonneke de Boer; Sarina G Kant; Marcel Karperien; Lotte van Beers; Jennifer Tjon; Geraldine R Vink; Dewy van Tol; Hans Dauwerse; Saskia Le Cessie; Frits A Beemer; Ineke van der Burgt; Ben C J Hamel; Raoul Hennekam; Ursula Kuhnle; Inge B Mathijssen; Hermine E Veenstra-Knol; Connie T Schrander Stumpel; Martijn H Breuning; Jan M Wit
Genotype-phenotype correlation in patients suspected of having Sotos syndrome.
Hormone research 2004;62(4):197-207.
2004: Tjitske Kleefstra; Helger G Yntema; Willy M Nillesen; Astrid R Oudakker; Reinier A Mullaart; Niels Geerdink; Hans van Bokhoven; Bert B A de Vries; Erik A Sistermans; Ben C J Hamel
MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics.
European journal of human genetics : EJHG 2004;12(1):24-8.
2003: E Mariken Ruiter; Ernie M H F Bongers; Dominique Smeets; Anne Marie Kuijpers-Jagtman; Ben C J Hamel
No justification of routine screening for 22q11 deletions in patients with overt cleft palate.
Clinical genetics 2003;64(3):216-9.
2002: Frédéric Laumonnier; Nathalie Ronce; Ben C J Hamel; Paul Thomas; James Lespinasse; Martine Raynaud; Christine Paringaux; Hans van Bokhoven; Vera Kalscheuer; Jean-Pierre Fryns; Jamel Chelly; Claude Moraine; Sylvain Briault
Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency.
American journal of human genetics 2002;71(6):1450-5.
2002: Han G Brunner; Ben C J Hamel; Hans van Bokhoven Hv
P63 gene mutations and human developmental syndromes.
American journal of medical genetics 2002;112(3):284-90.
2002: Andrew O M Wilkie; Susannah J Patey; Shih-hsin Kan; Ans M W van den Ouweland; Ben C J Hamel
FGFs, their receptors, and human limb malformations: clinical and molecular correlations.
American journal of medical genetics 2002;112(3):266-78.
2002: Helger G Yntema; Tjitske Kleefstra; Astrid R Oudakker; Tom Romein; Bert B A de Vries; Willy M Nillesen; Erik A Sistermans; Han G Brunner; Ben C J Hamel; Hans van Bokhoven
Low frequency of MECP2 mutations in mentally retarded males.
European journal of human genetics : EJHG 2002;10(8):487-90.
2002: Tjitske Kleefstra; Helger G Yntema; Astrid R Oudakker; Bert B A de Vries; Hans van Bokhoven; Ben C J Hamel; Francis A M Poppelaars; Margreet G E M Ausems
Localization of a gene for nonspecific X-linked mental retardation (MRX 76) to Xp22.3-Xp21.3.
American journal of medical genetics 2002;110(4):410-1.
2002: Helger G Yntema; Francis A M Poppelaars; Esther Derksen; Astrid R Oudakker; Tanja van Roosmalen; Anja Jacobs; Hanneke Obbema; Han G Brunner; Ben C J Hamel; Hans van Bokhoven
Expanding phenotype of XNP mutations: mild to moderate mental retardation.
American journal of medical genetics 2002;110(3):243-7.
2002: Tjitske Kleefstra; Helger G Yntema; Astrid R Oudakker; T Romein; Erik A Sistermans; W Nillessen; Hans van Bokhoven; Bert B A de Vries; Ben C J Hamel
De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia.
Clinical genetics 2002;61(5):359-62.
2002: Ernie M H F Bongers; Hans van Bokhoven; Nine V A M Knoers; Ben C J Hamel; C Geoffrey Woods
Evidence for genetic heterogeneity in familial isolated patella aplasia-hypoplasia.
American journal of medical genetics 2002;108(1):78-9.
2002: Niels Geerdink; Jan J Rotteveel; Martin Lammens; Erik A Sistermans; G T Heikens; Fons J M Gabreëls; Reinier A Mullaart; Ben C J Hamel
MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings.
Neuropediatrics 2002;33(1):33-6.
2002: M F Verweij; Ben C J Hamel
Unexpected findings in identifiable stored blood samples after analysis without consent: moral arguments for and against disclosure.
Genetic counseling (Geneva, Switzerland) 2002;13(2):115-21.
2002: Hans J ten Donkelaar; Ben C J Hamel; E Hartman; J A C van Lier; P Wesseling
Intestinal mucosa on top of a rudimentary occipital meningocele in amniotic rupture sequence: disorganization-like syndrome, homeotic transformation, abnormal surface encounter or endoectodermal adhesion?
Clinical dysmorphology 2002;11(1):9-13.
2002: Helger G Yntema; Astrid R Oudakker; Tjitske Kleefstra; Ben C J Hamel; Hans van Bokhoven; Jamel Chelly; Vera Kalscheuer; Jean-Pierre Fryns; Martine Raynaud; Marie-Pierre Moizard; Claude Moraine
In-frame deletion in MECP2 causes mild nonspecific mental retardation.
American journal of medical genetics 2002;107(1):81-3.
2001: Hans van Bokhoven; Ben C J Hamel; Michael Bamshad; Eugenio Sangiorgi; Fiorella Gurrieri; Pascal Duijf; Kaate R J Vanmolkot; Ellen van Beusekom; Sylvia van Beersum; Jacopo Celli; Gerard F M Merkx; R Tenconi; Jean-Pierre Fryns; Alain Verloes; Ruth Newbury-Ecob; A Raas-Rotschild; Frank Majewski; F A Beemer; Andreas R Janecke; David Chitayat; G Crisponi; Hulya Kayserili; J R Yates; Giovanni Neri; Han G Brunner
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.
American journal of human genetics 2001;69(3):481-92.
2001: Ernie M H F Bongers; J M Opitz; A Fryer; P Sarda; Raoul Hennekam; B D Hall; D W Superneau; M Harbison; A Poss; Hans van Bokhoven; Ben C J Hamel; Nine V A M Knoers
Meier-Gorlin syndrome: report of eight additional cases and review.
American journal of medical genetics 2001;102(2):115-24.
2001: Ernie M H F Bongers; Hans van Bokhoven; M N Van Thienen; M A Kooyman; Sylvia van Beersum; Carla Boetes; Nine V A M Knoers; Ben C J Hamel
The small patella syndrome: description of five cases from three families and examination of possible allelism with familial patella aplasia-hypoplasia and nail-patella syndrome.
Journal of medical genetics 2001;38(3):209-14.
2001: John A McGrath; Pascal Duijf; V Doetsch; Alan D Irvine; R de Waal ; Kaate R J Vanmolkot; Vesarat Wessagowit; A Kelly; David J Atherton; W Andrew Griffiths; S J Orlow; A van Haeringen; M G Ausems; A Yang; Frank McKeon; Michael Bamshad; Han G Brunner; Ben C J Hamel; Hans van Bokhoven
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63.
Human molecular genetics 2001;10(3):221-9.
2001: Griet Van Buggenhout; JC Trommelen; H G Brunner; Ben C J Hamel; Jean-Pierre Fryns
The clinical phenotype in institutionalised adult males with X-linked mental retardation (XLMR).
Annales de génétique 2001;44(1):47-55.
2001: Griet Van Buggenhout; J M Trijbels; Ron A Wevers; JC Trommelen; Ben C J Hamel; H G Brunner; Jean-Pierre Fryns
Metabolic studies in older mentally retarded patients: significance of metabolic testing and correlation with the clinical phenotype.
Genetic counseling (Geneva, Switzerland) 2001;12(1):1-21.
2000: Ben C J Hamel; Pietro Chiurazzi; HA Lubs
Syndromic XLMR genes (MRXS): update 2000.
American journal of medical genetics 2000;94(5):361-3.
2000: Frans A Hol; Marga Schepens; Sylvia van Beersum; E Redolfi; M Affer; Paolo Vezzoni; Ben C J Hamel; Pamela S Karnes; Edwin C M Mariman; Ileana Zucchi
Identification and characterization of an Xq26-q27 duplication in a family with spina bifida and panhypopituitarism suggests the involvement of two distinct genes.
Genomics 2000;69(2):174-81.
2000: Kerstin Kutsche; Helger G Yntema; A Brandt; I Jantke; Hans Gerd Nothwang; Ulrike Orth; M G Boavida; D David; J Chelly; J P Fryns; Claude Moraine; H H Ropers; Ben C J Hamel; H van Bokhoven; Andreas Gal
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation.
Nature genetics 2000;26(2):247-50.
2000: Ben C J Hamel; Francis A M Poppelaars
[Sex-linked mental retardation].
Nederlands tijdschrift voor geneeskunde 2000;144(36):1713-6.
2000: Yanick J Crow; Andrew P Jackson; Emma Roberts; Ellen van Beusekom; P Barth; Peter Corry; Colin D Ferrie; Ben C J Hamel; R Jayatunga; Gulshan Karbani; R Kálmánchey; A Kelemen; M King; R Kumar; J Livingstone; R Massey; Robert C McWilliam; A Meager; Christopher Rittey; John B P Stephenson; John Tolmie; A Verrips; Thomas Voit; Hans van Bokhoven; Han G Brunner; C Geoffrey Woods
Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.
American journal of human genetics 2000;67(1):213-21.
2000: Griet Van Buggenhout; E Pijkels; M Holvoet; C Schaap; Ben C J Hamel; J P Fryns
Cri du chat syndrome: changing phenotype in older patients.
American journal of medical genetics 2000;90(3):203-15.
2000: Griet Van Buggenhout; M J Descheemaeker; P Thiry; JC Trommelen; Ben C J Hamel; Jean-Pierre Fryns
Angelman syndrome in three adult patients with atypical presentation and severe neurological complications.
Genetic counseling (Geneva, Switzerland) 2000;11(4):363-73.
1999: Helger G Yntema; Bellinda van den Helm; J Kissing; Gerard van Duijnhoven; Francis A M Poppelaars; J Chelly; Claude Moraine; Jean-Pierre Fryns; Ben C J Hamel; H Heilbronner; H J Pander; Han G Brunner; Hans-Hilger Ropers; Frans P M Cremers; Hans van Bokhoven
A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation.
Genomics 1999;62(3):332-43.
1999: Jacopo Celli; Pascal Duijf; Ben C J Hamel; Michael Bamshad; B Kramer; Arie P T Smits; Ruth Newbury-Ecob; Raoul Hennekam; Griet Van Buggenhout; A van Haeringen; C Geoffrey Woods; A J van Essen; R de Waal; G Vriend; D A Haber; A Yang; Frank McKeon; Han G Brunner; Hans van Bokhoven
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.
Cell 1999;99(2):143-53.
1999: Harriëtte T F M Verzijl; Bellinda van den Helm; B Veldman; Ben C J Hamel; L P Kuyt; George W Padberg; Hannie Kremer
A second gene for autosomal dominant Möbius syndrome is localized to chromosome 10q, in a Dutch family.
American journal of human genetics 1999;65(3):752-6.
1999: Griet Van Buggenhout; JC Trommelen; A Schoenmaker; C De Bal; J J Verbeek; D F Smeets; H H Ropers; koenraad devriendt; Ben C J Hamel; Jean-Pierre Fryns
Down syndrome in a population of elderly mentally retarded patients: genetic-diagnostic survey and implications for medical care.
American journal of medical genetics 1999;85(4):376-84.
1999: Helger G Yntema; Bellinda van den Helm; Nine V A M Knoers; Arie P T Smits; Tanja van Roosmalen; Dominique Smeets; Edwin C M Mariman; Ineke van der Burgt; Hans van Bokhoven; Hans-Hilger Ropers; Hannie Kremer; Ben C J Hamel
X-linked mental retardation: evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region.
American journal of medical genetics 1999;85(3):305-8.
1999: Ben C J Hamel; Arie P T Smits; Bellinda van den Helm; Dominique Smeets; Nine V A M Knoers; Tanja van Roosmalen; Geert Thoonen; C F Assman-Hulsmans; Hans-Hilger Ropers; Edwin C M Mariman; Hannie Kremer
Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis.
American journal of medical genetics 1999;85(3):290-304.
1999: L E Siderius; Ben C J Hamel; Hans van Bokhoven; F de Jager; Bellinda van den Helm; Hannie Kremer; J A Heineman-de Boer; Hans-Hilger Ropers; Edwin C M Mariman
X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3.
American journal of medical genetics 1999;85(3):216-20.
1999: Gene S Fisch; Nancy Carpenter; Richard J Simensen; Arie P T Smits; Tanja van Roosmalen; Ben C J Hamel
Longitudinal changes in cognitive-behavioral levels in three children with FRAXE.
American journal of medical genetics 1999;84(3):291-2.
1999: Tanja van Roosmalen; Arie P T Smits; Geert Thoonen; Ben C J Hamel; C F Assman-Hulmans; F J Gabreels
Psychometric assessment of families with X-linked mental retardation.
American journal of medical genetics 1999;83(4):264-7.
1999: Ben C J Hamel; P Wesseling; W O Renier; Bellinda van den Helm; Hans-Hilger Ropers; Hannie Kremer; Edwin C M Mariman
A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region.
Journal of medical genetics 1999;36(2):140-3.
1999: Hans van Bokhoven; M Jung; Arie P T Smits; Sylvia van Beersum; Franz Rüschendorf; Maurice A M van Steensel; M Veenstra; Joep H A M Tuerlings; Edwin C M Mariman; Han G Brunner; T F Wienker; A Reis; H H Ropers; Ben C J Hamel
Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27.
American journal of human genetics 1999;64(2):538-46.
1998: Paulus H L J Joosten; Frans A Hol; Sylvia van Beersum; H Peters; Ben C J Hamel; Gijs B Afink; Everardus J J van Zoelen; Edwin C M Mariman
Altered regulation of platelet-derived growth factor receptor-alpha gene-transcription in vitro by spina bifida-associated mutant Pax1 proteins.
Proceedings of the National Academy of Sciences of the United States of America 1998;95(24):14459-63.
1998: Helger G Yntema; Ben C J Hamel; Arie P T Smits; Tanja van Roosmalen; Bellinda van den Helm; Hannie Kremer; Hans-Hilger Ropers; Dominique Smeets; Hans van Bokhoven
Localisation of a gene for non-specific X linked mental retardation (MRX46) to Xq25-q26.
Journal of medical genetics 1998;35(10):801-5.
1998: Ben C J Hamel; Gerard Pals; C H Engels; E van den Akker; G H Boers; P W van Dongen; PM Steijlen
Ehlers-Danlos syndrome and type III collagen abnormalities: a variable clinical spectrum.
Clinical genetics 1998;53(6):440-6.
1998: J B van Mourik; Ben C J Hamel; Edwin C M Mariman
A large family with multiple epiphyseal dysplasia linked to COL9A2 gene.
American journal of medical genetics 1998;77(3):234-40.
1998: J J van den Ende; C T R M Schrander-Stumpel; E Rupprecht; P Meinecke; P Maroteaux; C de Die-Smulders; Ben C J Hamel
The cerebro-costo-mandibular syndrome: seven patients and review of the literature.
Clinical dysmorphology 1998;7(2):87-95.
1998: AM Riesewijk; N Blagitko; A A Schinzel; L Hu; U Schulz; Ben C J Hamel; Hans-Hilger Ropers; Vera Kalscheuer
Evidence against a major role of PEG1/MEST in Silver-Russell syndrome.
European journal of human genetics : EJHG 1998;6(2):114-20.
1998: Frans A Hol; N M J van der Put; MP Geurds; Sandra G Heil; Frans J M Trijbels; Ben C J Hamel; Edwin C M Mariman; Henk J Blom
Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects.
Clinical genetics 1998;53(2):119-25.
1998: Frans A Hol; MP Geurds; Cor W R J Cremers; Ben C J Hamel; Edwin C M Mariman
Identification of two PAX3 mutations causing Waardenburg syndrome, one within the paired domain (M62V) and the other downstream of the homeodomain (Q282X).
Human mutation 1998;Suppl 1():S145-7.
1997: P Rump; Ben C J Hamel; Alfred J L G Pinckers; P A van Dop
Two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia: Boucher-Neuhäuser syndrome.
Journal of medical genetics 1997;34(9):767-71.
1997: C H Engels; P W van Dongen; G H Boers; PM Steijlen; Ben C J Hamel
[Ehlers-Danlos syndrome IV: phenotype variation].
Nederlands tijdschrift voor geneeskunde 1997;141(6):296-8.
1996: H Kremer; Ben C J Hamel; Bellinda van den Helm; W F Arts; Ilse J de Wijs; Erik A Sistermans; Hans-Hilger Ropers; Edwin C M Mariman
Localization of the gene (or genes) for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhood.
Human genetics 1996;98(5):513-7.
1996: Hannie Kremer; L P Kuyt; Bellinda van den Helm; M van Reen; Jack Leunissen; Ben C J Hamel; C Jansen; Edwin C M Mariman; Rune R Frants; George W Padberg
Localization of a gene for Möbius syndrome to chromosome 3q by linkage analysis in a Dutch family.
Human molecular genetics 1996;5(9):1367-71.
1996: Frans A Hol; M P Geurds; S Chatkupt; Yin Yao Shugart; R Balling; C T R M Schrander-Stumpel; William G Johnson; Ben C J Hamel; Edwin C M Mariman
PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida.
Journal of medical genetics 1996;33(8):655-60.
1996: Ben C J Hamel; Hannie Kremer; E Wesby-van Swaay; Bellinda van den Helm; Arie P T Smits; Ben A Oostra; Hans-Hilger Ropers; Edwin C M Mariman
A gene for nonspecific X-linked mental retardation (MRX41) is located in the distal segment of Xq28.
American journal of medical genetics 1996;64(1):131-3.
1996: Ben C J Hamel; Arie P T Smits; B J Otten; Bellinda van den Helm; Hans-Hilger Ropers; Edwin C M Mariman
Familial X-linked mental retardation and isolated growth hormone deficiency: clinical and molecular findings.
American journal of medical genetics 1996;64(1):35-41.
1996: Ben C J Hamel; Anja Raams; A R Schuitema-Dijkstra; P Simons; Ineke van der Burgt; Nicolaas G J Jaspers; Wim J Kleijer
Xeroderma pigmentosum--Cockayne syndrome complex: a further case.
Journal of medical genetics 1996;33(7):607-10.
1996: Y Muragaki; Edwin C M Mariman; Sylvia van Beersum; M Perälä; J B van Mourik; Matthew L Warman; Ben C J Hamel; Bjorn R Olsen
A mutation in COL9A2 causes multiple epiphyseal dysplasia (EDM2).
Annals of the New York Academy of Sciences 1996;785():303-6.
1996: Griet Van Buggenhout; Conny van Ravenswaaij-Arts; W O Renier; M P Van de Wiel; J C Trommelen; E Pijkels; Ben C J Hamel; J P Fryns
Fountain syndrome: further delineation of the clinical syndrome and follow-up data.
Genetic counseling (Geneva, Switzerland) 1996;7(3):177-86.
1996: J J Van Den Ende; C J Van Der Burgt; M C Jansweijer; Ben C J Hamel; Han G Brunner
Ectrodactyly of lower limbs, congenital heart defect and characteristic facies in four unrelated Dutch patients: a new association.
Clinical dysmorphology 1996;5(1):1-7.
1996: Y Muragaki; Edwin C M Mariman; Sylvia van Beersum; M Perälä; J B van Mourik; Matthew L Warman; Bjorn R Olsen; Ben C J Hamel
A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2).
Nature genetics 1996;12(1):103-5.
1995: Frans A Hol; Ben C J Hamel; M P Geurds; I Hansmann; F A Nabben; O Daniëls; Edwin C M Mariman
Localization of Alagille syndrome to 20p11.2-p12 by linkage analysis of a three-generation family.
Human genetics 1995;95(6):687-90.
1995: M E Evers; P M Steijlen; Ben C J Hamel
Aplasia cutis congenita and associated disorders: an update.
Clinical genetics 1995;47(6):295-301.
1995: Ben C J Hamel; J M Draaisma; Alfred J L G Pinckers; C Boetes; R L Hoppe; Hans-Hilger Ropers; H G Brunner
Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report.
American journal of medical genetics 1995;56(3):312-6.
1995: S Chatkupt; Frans A Hol; Yin Yao Shugart; M P Geurds; Edward S Stenroos; M R Koenigsberger; Ben C J Hamel; William G Johnson; Edwin C M Mariman
Absence of linkage between familial neural tube defects and PAX3 gene.
Journal of medical genetics 1995;32(3):200-4.
1995: Griet Van Buggenhout; Han G Brunner; J C Trommelen; Ben C J Hamel
Zimmermann-Laband syndrome in a patient with severe mental retardation.
Genetic counseling (Geneva, Switzerland) 1995;6(4):321-7.
1995: Frans A Hol; Ben C J Hamel; M P Geurds; R A Mullaart; Frederic G Barr; R A Macina; Edwin C M Mariman
A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome.
Journal of medical genetics 1995;32(1):52-6.
1995: Griet Van Buggenhout; A C Akkermans-Scholten; Ben C J Hamel
Characteristic facial dysmorphism, arachnodactyly and mental retardation: another case.
Genetic counseling (Geneva, Switzerland) 1995;6(1):61-3.
1994: M E Evers; R H Dijkman-Neerincx; Ben C J Hamel
Oculo-ectodermal syndrome: a new case.
American journal of medical genetics 1994;53(4):378-9.
1994: Ben C J Hamel; Arie P T Smits; Esther de Graaff; Dominique Smeets; F Schoute; B H Eussen; S J Knight; K E Davies; C F Assman-Hulsmans; Ben A Oostra
Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data.
American journal of human genetics 1994;55(5):923-31.
1994: Griet Van Buggenhout; Ben C J Hamel; J C Trommelen; H Mieloo; Dominique Smeets
Down-Turner syndrome: case report and review.
Journal of medical genetics 1994;31(10):807-10.
1994: Ben C J Hamel; Edwin C M Mariman; Sylvia van Beersum; A M Schoonbrood-Lenssen; Hans-Hilger Ropers
Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: a new X-linked multiple congenital anomalies/mental retardation syndrome: clinical description and molecular studies.
American journal of medical genetics 1994;51(4):591-7.
1994: Frans A Hol; M P Geurds; O Jensson; Ben C J Hamel; G E Moore; R Newton; Edwin C M Mariman
Exclusion mapping of the gene for X-linked neural tube defects in an Icelandic family.
Human genetics 1994;93(4):452-6.
1994: O Tsukurov; A Boehmer; J Flynn; J P Nicolai; Ben C J Hamel; S Traill; David J Zaleske; H J Mankin; H Yeon; C Ho
A complex bilateral polysyndactyly disease locus maps to chromosome 7q36.
Nature genetics 1994;6(3):282-6.
1993: Han G Brunner; H T Brüggenwirth; W Nillesen; G Jansen; Ben C J Hamel; R L Hoppe; C E de Die; C J Höweler; BA van Oost; Bé Wieringa
Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM).
American journal of human genetics 1993;53(5):1016-23.
1993: H G Brunner; T Hulsebos; P M Steijlen; D J der Kinderen; A vd Steen; Ben C J Hamel
Exclusion of the neurofibromatosis 1 locus in a family with inherited café-au-lait spots.
American journal of medical genetics 1993;46(4):472-4.
1993: Raoul Hennekam; M Tilanus; Ben C J Hamel; H Voshart-van Heeren; Edwin C M Mariman; Sylvia van Beersum; M J van den Boogaard; Martijn H Breuning
Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects.
American journal of human genetics 1993;52(2):255-62.
1993: Martijn H Breuning; Hans Dauwerse; G Fugazza; Jasper J Saris; Lia Spruit; H Wijnen; Niels Tommerup; C B van der Hagen; K Imaizumi; Y Kuroki; M J van den Boogaard; Joke de Pater; Edwin C M Mariman; Ben C J Hamel; H Himmelbauer; A M Frischauf; R Stallings; Geoffrey C Beverstock; Gert-Jan B van Ommen; Raoul Hennekam
Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.
American journal of human genetics 1993;52(2):249-54.
1992: Ben C J Hamel; Rudolf Happle; P M Steylen; L A Kollée; J H Stekhoven; J G Nijhuis; R Rauskolb; I Anton-Lamprecht
False-negative prenatal diagnosis of restrictive dermopathy.
American journal of medical genetics 1992;44(6):824-6.
1992: Han G Brunner; Ben C J Hamel; P Rieu; C J Höweler; F T Peters
Intestinal pseudo-obstruction in myotonic dystrophy.
Journal of medical genetics 1992;29(11):791-3.
1992: Edwin C M Mariman; Ben C J Hamel
Sex ratios of affected and transmitting members of multiple case families with neural tube defects.
Journal of medical genetics 1992;29(10):695-8.
1992: Frans A Hol; M P Geurds; Ben C J Hamel; Edwin C M Mariman
Improving the polymorphism content of the 3' UTR of the human IGF2R gene.
Human molecular genetics 1992;1(5):347.
1992: Arie P T Smits; BA van Oost; A F de Haan; Ben C J Hamel; J C F M Dreesen; Dominique Smeets
Penetrance of fra(X) gene: influence of grandparental origin of the gene, mental status of the carrier mother, and presence of a normal transmitting male.
American journal of medical genetics 1992;43(1-2):365-72.
1992: Dominique Smeets; Ben C J Hamel; M R Nelen; H J M Smeets; J H Bollen; Arie P T Smits; Hans-Hilger Ropers; BA van Oost
Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15.
The New England journal of medicine 1992;326(12):807-11.
1992: Rudolf Happle; J H Stekhoven; Ben C J Hamel; L A Kollée; J G Nijhuis; I Anton-Lamprecht; P M Steijlen
Restrictive dermopathy in two brothers.
Archives of dermatology 1992;128(2):232-5.
1991: Han G Brunner; H J M Smeets; W Nillesen; BA van Oost; J B van den Biezenbos; E M Joosten; Alfred J L G Pinckers; Ben C J Hamel; A G Theeuwes; Bé Wieringa
Myotonic dystrophy. Predictive value of normal results on clinical examination.
Brain : a journal of neurology 1991;114 ( Pt 5)():2303-11.
1989: R C Hennekam; R A Geerdink; Ben C J Hamel; F A Hennekam; P Kraus; J A Rammeloo; A A Tillemans
Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation.
American journal of medical genetics 1989;34(4):593-600.