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Helger Yntema

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TOP 3
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.
T I Winarni; Helger G Yntema; B C J Hamel; F E P Mundhofir; Willy M Nillesen; M Belladona; A Ediati; S M H Faradz; R J Hagerman
The fragile X-associated tremor ataxia syndrome (FXTAS) in Indonesia.
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.

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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.
2013: T I Winarni; Helger G Yntema; B C J Hamel; F E P Mundhofir; Willy M Nillesen; M Belladona; A Ediati; S M H Faradz; R J Hagerman
The fragile X-associated tremor ataxia syndrome (FXTAS) in Indonesia.
Clinical genetics 2013;83(3):263-8.
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: Joep de Ligt; Bert B A de Vries; Petra de Vries; Marisol del Rosario; Christian Gilissen; Alexander Hoischen; Tjitske Kleefstra; David A Koolen; Thessa Kroes; Hans Scheffer; Bregje W M van Bon; Joris Veltman; Anneke T Vulto-van Silfhout; Marjolein H Willemsen; Helger G Yntema; Han G Brunner; Lisenka E L M Vissers
Diagnostic exome sequencing in persons with severe intellectual disability.
The New England journal of medicine 2012;367(20):1921-9.
2012: Marjolein H Willemsen; Helger G Yntema; Willy M Nillesen; Rolph Pfundt; Hans van Bokhoven; Arjan P M de Brouwer; Nicole de Leeuw; Bert B A de Vries; Jayne Hehir-Kwa; Tjitske Kleefstra
Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies.
European journal of medical genetics 2012;55(11):586-98.
2012: Ellen A Croonen; Ans M W van den Ouweland; Rick van Minkelen; Helger G Yntema; Ineke van der Burgt
Patient with a neurofibromatosis type 1 mutation but a clinical diagnosis of Noonan syndrome.
Clinical dysmorphology 2012;21(4):212-4.
2012: David A Koolen; Jamie M Kramer; Valérie Malan; Sarah Martens; Heather L Moore-Barton; Kornelia Neveling; Willy M Nillesen; Hans Scheffer; Annette Schenck; Annick Toutain; Anne Chun-Hui Tsai; Joris Veltman; Eugene T P Verwiel; Lisenka E L M Vissers; Helger G Yntema; Jeanne Amiel; Ernie M H F Bongers; Han G Brunner; Sau Wai Cheung; Arjan P M de Brouwer; Petra de Vries; Frances V Elmslie; Ton Feuth; Christian Gilissen; Bert B A de Vries
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.
Nature genetics 2012;44(6):639-41.
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: Karen A Marcus; Barto J Otten; Janiëlle A A E M van Alfen-van der Velden; Gert Weijers; Helger G Yntema; Chris de Korte; Livia Kapusta
Cardiac evaluation in children with Prader-Willi syndrome.
Acta paediatrica (Oslo, Norway : 1992) 2012;101(5):e225-31.
2012: Miles D Thompson; Helger G Yntema; Danielle M Andrade; Han G Brunner; Peter Krawitz; Peihua Lu; Carlo Marcelis; Marjan M Nezarati; John A Phillips; Peter N Robinson; Tony Roscioli; Frances J Sharom; Irene Stolte-Dijkstra; Elizabeth Sweeney; David E C Cole
Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome).
American journal of medical genetics. Part A 2012;158A(3):553-8.
2012: Bob Glaudemans; René J Bindels; Joost G Hoenderop; Erik-J Kamsteeg; Nine V A M Knoers; Rolph Pfundt; Pedro San-Cristobal; Jeroen Schoots; Helger G Yntema; Lies H Hoefsloot
Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome.
European journal of human genetics : EJHG 2012;20(3):263-70.
2012: Rocio Moran; Sander B Nabuurs; Aditia Retno-Fitri; Jeroen Roelofsen; Hans van Bokhoven; Helger G Yntema; John Christodoulou; John Duley; Neil R Friedman; André B P Kuilenburg; Arjan P M de Brouwer
Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.
American journal of medical genetics. Part A 2012;158A(2):455-60.
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: Tolga Hasan Celik; Sibel Ersoy-Evans; Ayse Korkmaz; Pelin Ozlem Simsek-Kiper; G Eda Utine; Helger G Yntema; Koray Bodugroglu; Ayse Buyukcam; Murat Yurdakok
A newborn with overlapping features of AEC and EEC syndromes.
American journal of medical genetics. Part A 2011;155A(12):3100-3.
2011: Ilse Feenstra; Andrew Green; Nicolien Hanemaaijer; R Hordijk; Dorien Lugtenberg; William Reardon; Birgit Sikkema-Raddatz; Joke B G M Verheij; Helger G Yntema; Nicole de Leeuw; Bert de Vries; Ernie M H F Bongers; Han Brunner; Trijnie Dijkhuizen; Conny van Ravenswaaij-Arts
Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.
European journal of human genetics : EJHG 2011;19(11):1152-60.
2011: M A Spath; A Geurts van Kessel; Helger G Yntema; E G Allen; D D M Braat; T B Feuth; S L Sherman; A P T Smits; C M G Thomas
Intra-individual stability over time of standardized anti-Mullerian hormone in FMR1 premutation carriers.
Human reproduction (Oxford, England) 2011;26(8):2185-91.
2011: Marjolijn Jongmans; Lambertus A L M Kiemeney; Roland P Kuiper; M J L Ligtenberg; Willy M Nillesen; Kees Noordam; Ineke van der Burgt; Ad Geurts van Kessel; J Han J M van Krieken; Helger G Yntema; Peter M Hoogerbrugge; Nicoline Hoogerbrugge
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.
European journal of human genetics : EJHG 2011;19(8):870-4.
2011: Marian A Spath; Chris M G Thomas; Ad Geurts van Kessel; Helger G Yntema; Didi D M Braat; Ton B Feuth; Stephanie L Sherman; Arie P T Smits; Emily G Allen
Predictors and risk model development for menopausal age in fragile X premutation carriers.
Genetics in medicine : official journal of the American College of Medical Genetics 2011;13(7):643-50.
2011: Willy M Nillesen; Annick Raas-Rothschild; Marga Schepens; Nienke E Verbeek; Raymon Vijzelaar; Louise C Wilson; Helger G Yntema; Marcella Zollino; Hans van Bokhoven; Frances Cowan; Orly Gafni-Weinstein; Jacques Giltay; Marco Moscarda; Marcel Nelen; Giovanni Neri; Tjitske Kleefstra
Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome.
Human mutation 2011;32(7):853-9.
2011: M H Willemsen; Helger G Yntema; G Beunders; M Callaghan; Nicole de Leeuw; A Hoischen; N Morrison; J Tolmie; H G Brunner; S T M Keijzers-Vloet; A W M Nieuwint; Willy M Nillesen; J M van Hagen; Tjitske Kleefstra
Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions.
Clinical genetics 2011;80(1):31-8.
2011: Vincent Runtuwene; Mark van Eekelen; John Overvoorde; Holger Rehmann; Helger G Yntema; Willy M Nillesen; Arie van Haeringen; Ineke van der Burgt; Boudewijn M T Burgering; Jeroen den Hertog
Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects.
Disease models & mechanisms 2011;4(3):393-9.
2010: D Wallon; L Guyant-Maréchal; A Laquerrière; Ron A Wevers; O Martinaud; L A J Kluijtmans; Helger G Yntema; P Saugier-Veber; D Hannequin
Clinical imaging and neuropathological correlations in an unusual case of cerebrotendinous xanthomatosis.
Clinical neuropathology 2010;29(6):361-4.
2010: Simone Martinelli; Alessandro De Luca; Emilia Stellacci; Cesare Rossi; Saula Checquolo; Francesca Lepri; Viviana Caputo; Marianna Silvano; Francesco Buscherini; Federica Consoli; Grazia Ferrara; Maria Cristina Digilio; Maria L Cavaliere; Johanna M van Hagen; Giuseppe Zampino; Ineke van der Burgt; Giovanni B Ferrero; Laura Mazzanti; Isabella Screpanti; Helger G Yntema; Willy M Nillesen; Ravi Savarirayan; Martin Zenker; Bruno Dallapiccola; Bruce D Gelb; Marco Tartaglia
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.
American journal of human genetics 2010;87(2):250-7.
2010: Marjolijn Jongmans; Peter M Hoogerbrugge; Linda Hilkens; Uta Flucke; Ineke van der Burgt; Kees Noordam; Martina Ruiterkamp-Versteeg; Helger G Yntema; Willy M Nillesen; M J L Ligtenberg; Ad Geurts van Kessel; Roland P Kuiper; Nicoline Hoogerbrugge
Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma.
Genes, chromosomes & cancer 2010;49(7):635-41.
2010: Korcan Demir; Helger G Yntema; Ayça Altincik; Ece Böber
A mother and son with Noonan syndrome resulting from a PTPN11 mutation: first report of molecularly proven cases from Turkey.
The Turkish journal of pediatrics 2010;52(3):321-4.
2010: A C Houweling; Y M de Mooij; I van der Burgt; Helger G Yntema; A M A Lachmeijer; Attie T J I Go
Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes.
Prenatal diagnosis 2010;30(3):284-6.
2010: Marian A Spath; Willy N Nillesen; Arie P T Smits; Ton B Feuth; D D M Braat; Ad Geurts van Kessel; Helger G Yntema
X chromosome inactivation does not define the development of premature ovarian failure in fragile X premutation carriers.
American journal of medical genetics. Part A 2010;152A(2):387-93.
2009: Tjitske Kleefstra; W A van Zelst-Stams; Willy M Nillesen; Valérie Cormier-Daire; G Houge; N Foulds; Maaike W van Dooren; M H Willemsen; Rolph Pfundt; A Turner; M Wilson; J McGaughran; A Rauch; M Zenker; M P Adam; M Innes; C Davies; A González-Meneses López; R Casalone; A Weber; L A Brueton; A Delicado Navarro; M Palomares Bralo; H Venselaar; S P A Stegmann; Helger G Yntema; Hans van Bokhoven; Han G Brunner
Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.
Journal of medical genetics 2009;46(9):598-606.
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.
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: 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.
2005: Bettina A Dümmler; Camilla Hauge; Joachim Silber; Helger G Yntema; Lars S Kruse; Birte Kofoed; Brian A Hemmings; Dario R Alessi; Morten Frödin
Functional characterization of human RSK4, a new 90-kDa ribosomal S6 kinase, reveals constitutive activation in most cell types.
The Journal of biological chemistry 2005;280(14):13304-14.
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.
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: Efraim H. Rosenberg; Lígia Almeida; Tjitske Kleefstra; Rose S deGrauw; Helger G Yntema; Nadia Bahi; Claude Moraine; Hans-Hilger Ropers; Jean-Pierre Fryns; Ton J DeGrauw; Cornelis Jakobs; Gajja S Salomons
High prevalence of SLC6A8 deficiency in X-linked mental retardation.
American journal of human genetics 2004;75(1):97-105.
2004: Joris Veltman; Helger G Yntema; Dorien Lugtenberg; H Arts; Sylvain Briault; Erik H L P G Huys; Kazutoyo Osoegawa; Pieter de Jong; Han G Brunner; Ad Geurts van Kessel; Hans van Bokhoven; Eric F P M Schoenmakers
High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation.
Journal of medical genetics 2004;41(6):425-32.
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: Erwin van Wijk; Ronald Pennings; Heleen te Brinke; Annemarie Claassen; Helger G Yntema; Lies Hoefsloot; Frans P M Cremers; Cor W R J Cremers; Hannie Kremer
Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.
American journal of human genetics 2004;74(4):738-44.
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: Marie Gomot; Chantal Gendrot; Alain Verloes; Martine Raynaud; Albert David; Helger G Yntema; Sabine Dessay; Vera Kalscheuer; Suzanna G M Frints; Philippe Couvert; Sylvain Briault; Sophie Blesson; Annick Toutain; Jamel Chelly; Vincent Desportes; Claude Moraine
MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation.
American journal of medical genetics. Part A 2003;123A(2):129-39.
2003: Carolina Sismani; Maria Syrrou; Kyproula Christodoulou; Ben Hamel; Jamel Chelly; Helger G Yntema; Hans van Bokhoven; Meropi Tzoufi; Ioannis Georgiou; Philippos C Patsalis
A gene for nonsyndromic X-linked mental retardation (MRX77) maps to Xq12-Xq21.33.
American journal of medical genetics. Part A 2003;122A(1):46-50.
2003: Hans-Hilger Ropers; Maria Hoeltzenbein; Vera Kalscheuer; Helger G Yntema; Ben Hamel; Jean-Pierre Fryns; Jamel Chelly; Michael Partington; Jozef Gecz; Claude Moraine
Nonsyndromic X-linked mental retardation: where are the missing mutations?
Trends in genetics : TIG 2003;19(6):316-20.
2003: Thierry Bienvenu; Karine Poirier; Hilde Van Esch; Ben Hamel; Claude Moraine; J P Fryns; Hans-Hilger Ropers; Cherif Beldjord; Helger G Yntema; Jamel Chelly
Rare polymorphic variants of the AGTR2 gene in boys with non-specific mental retardation.
Journal of medical genetics 2003;40(5):357-9.
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: Ilaria Meloni; Michela Muscettola; Martine Raynaud; Ilaria Longo; Mirella Bruttini; Marie-Pierre Moizard; Marie Gomot; Jamel Chelly; Vincent des Portes; Jean-Pierre Fryns; Hans-Hilger Ropers; Barbara Magi; Cristina Bellan; Nila Volpi; Helger G Yntema; Sarah E Lewis; Jean E Schaffer; Alessandra Renieri
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation.
Nature genetics 2002;30(4):436-40.
2002: Joep H A M Tuerlings; Ron J T Van Golde; Astrid R Oudakker; Helger G Yntema; Jan A M Kremer
Familial oligoasthenoteratozoospermia: evidence of autosomal dominant inheritance with sex-limited expression.
Fertility and sterility 2002;77(2):415-8.
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: Philippe Couvert; Thierry Bienvenu; C Aquaviva; Karine Poirier; Claude Moraine; Chantal Gendrot; Alain Verloes; C Andrès; A C Le Fevre; Isabelle Souville; J Steffann; Vincent des Portes; Hans-Hilger Ropers; Helger G Yntema; J P Fryns; Sylvain Briault; Jamel Chelly; B Cherif
MECP2 is highly mutated in X-linked mental retardation.
Human molecular genetics 2001;10(9):941-6.
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.
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: 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.
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.