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Hans van Bokhoven

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Zafar Iqbal; Jamie M Kramer; Bonnie Nijhof; Hilde Peeters; Sheikh Riazuddin; Laura Tomas Roca; Muhammad Ansar; Judith A Besseling; Arjan P M de Brouwer; R Frank Kooy; Christian Gilissen; Céline Helsmoortel; Annette Schenck; Hans van Bokhoven; Nathalie Van der Aa; Monique van der Voet; Geert Vandeweyer; Joris A Veltman; Lisenka E L M Vissers; Anneke T Vulto-van Silfhout; Ali Muhammad Waryah; Muhammad Yasir Zahoor; Liesbeth Rooms
Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.
Karen Buysse; David Chitayat; William Halliday; Erik-Jan Kamsteeg; Dirk J Lefeber; Yung-Yao Lin; Gareth Powell; Moniek Riemersma; Tony Roscioli; Derek L Stemple; Ellen van Beusekom; Riyana Babul-Hirji; Susan Blaser; Christa van den Elzen; Jeroen van Reeuwijk; Gavin J Wright; Hans van Bokhoven
Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.
Lucas T Jae; Ron Kerkhoven; Dirk J Lefeber; Peter Meinecke; Matthijs Raaben; Moniek Riemersma; Haluk Topaloglu; Ellen van Beusekom; Hans van Bokhoven; Arno Velds; Marja W Wessels; Sean Whelan; Vincent A Blomen; Jan E Carette; Thijn R Brummelkamp
Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry.

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2013: Zafar Iqbal; Jamie M Kramer; Bonnie Nijhof; Hilde Peeters; Sheikh Riazuddin; Laura Tomas Roca; Muhammad Ansar; Judith A Besseling; Arjan P M de Brouwer; R Frank Kooy; Christian Gilissen; Céline Helsmoortel; Annette Schenck; Hans van Bokhoven; Nathalie Van der Aa; Monique van der Voet; Geert Vandeweyer; Joris A Veltman; Lisenka E L M Vissers; Anneke T Vulto-van Silfhout; Ali Muhammad Waryah; Muhammad Yasir Zahoor; Liesbeth Rooms
Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.
Human molecular genetics 2013;22(10):1960-70.
2013: Karen Buysse; David Chitayat; William Halliday; Erik-Jan Kamsteeg; Dirk J Lefeber; Yung-Yao Lin; Gareth Powell; Moniek Riemersma; Tony Roscioli; Derek L Stemple; Ellen van Beusekom; Riyana Babul-Hirji; Susan Blaser; Christa van den Elzen; Jeroen van Reeuwijk; Gavin J Wright; Hans van Bokhoven
Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.
Human molecular genetics 2013;22(9):1746-54.
2013: Lucas T Jae; Ron Kerkhoven; Dirk J Lefeber; Peter Meinecke; Matthijs Raaben; Moniek Riemersma; Haluk Topaloglu; Ellen van Beusekom; Hans van Bokhoven; Arno Velds; Marja W Wessels; Sean Whelan; Vincent A Blomen; Jan E Carette; Thijn R Brummelkamp
Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry.
Science (New York, N.Y.) 2013;340(6131):479-83.
2013: Zehra Agha; Maleeha Azam; Lies H Hoefsloot; Zafar Iqbal; Hans van Bokhoven; Raheel Qamar
A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet-Biedl syndrome in a Pakistani family.
Gene 2013;519(1):177-81.
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: Ruby Shalom-Feuerstein; Hans van Bokhoven; Klas G Wiman; Huiqing Zhou; Daniel Aberdam; Edith Aberdam; Franz-Josef Müller; Laura Serror; Isabelle Petit
Impaired epithelial differentiation of induced pluripotent stem cells from ectodermal dysplasia-related patients is rescued by the small compound APR-246/PRIMA-1MET.
Proceedings of the National Academy of Sciences of the United States of America 2013;110(6):2152-6.
2012: Janneke H M Schuurs-Hoeijmakers; Marloes Steehouwer; Mariëlle E M Swinkels; Hans van Bokhoven; Joris Veltman; Lisenka E L M Vissers; Michèl A Willemsen; Arjan P M de Brouwer; Bert B A de Vries; koenraad devriendt; Christian Gilissen; Maureen Holvoet; Nicholas Katsanis; Edwin C Oh; Han G Brunner
Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.
American journal of human genetics 2012;91(6):1122-7.
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: Tjitske Kleefstra; Tom S Koemans; Jamie M Kramer; Kornelia Neveling; Willy M Nillesen; Trine Prescott; Annette Schenck; Han G Brunner; Robin D Clark; Arjan P M de Brouwer; koenraad devriendt; Michaela Fenckova; Christian Gilissen; Nael Nadif Kasri; Willem M R van den Akker; Jeroen van Reeuwijk; Joris Veltman; Lisenka E L M Vissers; Marjolein H Willemsen; Willemijn Wissink-Lindhout; Huiqing Zhou; Hans van Bokhoven
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.
American journal of human genetics 2012;91(1):73-82.
2012: Zafar Iqbal; Michael P Kwint; Kornelia Neveling; Muhammad Qasim; Attia Razzaq; Sheikh Amer Riazuddin; Mohsin Shahzad; Arjan P M de Brouwer; Sabine Gijsen; Christian Gilissen; Joris A Veltman; Nienke Wieskamp; Muhammad Yasir Zahoor; Hans van Bokhoven
Targeted next generation sequencing reveals a novel intragenic deletion of the TPO gene in a family with intellectual disability.
Archives of medical research 2012;43(4):312-6.
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.
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: Lisenka E L M Vissers; Fenny Wiradjaja; Garima Yagnik; Kiyotoshi Sekiguchi; Kieran M Short; Ian Smyth; Hans van Bokhoven; Joris Veltman; Peter J Anderson; Debora Bertola; Simeon Boyd; Michael F Buckley; Timothy C Cox; Michael L Cunningham; Irene M Janssen; Fernanda Jehee; Daiji Kiyozumi; Jia Liu; A. Murat Maga; Carlo Marcelis; Maria Rita Passos-Bueno; Tony Roscioli
Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.
PLoS genetics 2011;7(9):e1002278.
2011: Janneke H M Schuurs-Hoeijmakers; Jayne Y Hehir-Kwa; Rolph Pfundt; Bregje W M van Bon; Nicole de Leeuw; Tjitske Kleefstra; Michèl A Willemsen; Ad Geurts van Kessel; Han G Brunner; Joris A Veltman; Hans van Bokhoven; Arjan P M de Brouwer; Bert B A de Vries
Homozygosity mapping in outbred families with mental retardation.
European journal of human genetics : EJHG 2011;19(5):597-601.
2011: Louise S Bicknell; Ernie M H F Bongers; Andrea Leitch; Stephen Brown; Jeroen Schoots; Margaret E Harley; Salim Aftimos; Jumana Y Al-Aama; Michael Bober; Paul A J Brown; Hans van Bokhoven; John Dean; Alaa Y Edrees; Murray Feingold; Alan Fryer; Lies Hoefsloot; Nikolaus Kau; Nine V A M Knoers; James Mackenzie; John M Opitz; Pierre Sarda; Alison Ross; I Karen Temple; Annick Toutain; Carol A Wise; Michael Wright; Andrew P Jackson
Mutations in the pre-replication complex cause Meier-Gorlin syndrome.
Nature genetics 2011;43(4):356-9.
2011: Sulman Basit; Zafar Iqbal; Masha Umicevic-Mirkov; Syed Kamran Ul-Hassan Naqvi; Marieke Coenen; Muhammad Ansar; Hans van Bokhoven; Wasim Ahmad
A novel deletion mutation in proteoglycan-4 underlies camptodactyly-arthropathy-coxa-vara-pericarditis syndrome in a consanguineous pakistani family.
Archives of medical research 2011;42(2):110-4.
2011: Hans van Bokhoven
Genetic and epigenetic networks in intellectual disabilities.
Annual review of genetics 2011;45():81-104.
2011: Jamie M Kramer; Korinna Kochinke; Merel A W Oortveld; Hendrik Marks; Daniela Kramer; Eiko K de Jong; Zoltan Asztalos; J Timothy Westwood; Hendrik G Stunnenberg; Marla B Sokolowski; Krystyna Keleman; Huiqing Zhou; Hans van Bokhoven; Annette Schenck
Epigenetic regulation of learning and memory by Drosophila EHMT/G9a.
PLoS biology 2011;9(1):e1000569.
2010: Nicole de Leeuw; Saskia Bulk; Andrew Green; Lane Jaeckle-Santos; Linda A Baker; Andrew R Zinn; Tjitske Kleefstra; Jasper J van der Smagt; Angela Maria Vianne Morgante; Bert B A de Vries; Hans van Bokhoven; Arjan P M de Brouwer
UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients.
American journal of medical genetics. Part A 2010;152A(12):3084-90.
2010: Eva Morava; Ron A Wevers; Vincent Cantagrel; Lies Hoefsloot; Lihadh Al-Gazali; Jeroen Schoots; Arno van Rooij; Karin M L C Huijben; Conny van Ravenswaaij-Arts; Marjolijn Jongmans; Jolanta Sykut-Cegielska; Georg F Hoffmann; Peter Bluemel; Maciej Adamowicz; Jeroen van Reeuwijk; Bobby G Ng; Jorieke E H Bergman; Hans van Bokhoven; Christian Körner; Dusica Babovic-Vuksanovic; Michèl A A P Willemsen; Joseph G Gleeson; Ludwig Lehle; Arjan P M de Brouwer; Dirk J Lefeber
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.
Brain : a journal of neurology 2010;133(11):3210-20.
2010: Arijit Mukhopadhyay; Jamie M Kramer; Gerard F M Merkx; Dorien Lugtenberg; Dominique Smeets; Merel A W Oortveld; Ellen A W Blokland; Jyoti Agrawal; Annette Schenck; Hans van Bokhoven; Erik Huys; Eric F P M Schoenmakers; Ad Geurts van Kessel; C Erik van Nouhuys; Frans P M Cremers
CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation.
Human genetics 2010;128(3):281-91.
2010: Jeroen van Reeuwijk; M J W Olderode-Berends; Christa van den Elzen; O F Brouwer; T Roscioli; maria van pampus; Hans Scheffer; Han G Brunner; Hans van Bokhoven; Frans A Hol
A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum.
Clinical genetics 2010;78(3):275-81.
2010: Evelyn N Kouwenhoven; Simon J van Heeringen; Juan J Tena; Martin Oti; Bas E Dutilh; M Eva Alonso; Elisa de la Calle-Mustienes; Leonie Smeenk; Tuula Rinne; Lilian Parsaulian; Emine Bolat; Rasa Jurgelenaite; Martijn A Huynen; Alexander Hoischen; Joris Veltman; Han G Brunner; Tony Roscioli; Emily Oates; Meredith Wilson; Miguel Manzanares; José Luis Gómez-Skarmeta; Hendrik G Stunnenberg; Marion Lohrum; Hans van Bokhoven; Huiqing Zhou
Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.
PLoS genetics 2010;6(8):e1001065.
2010: Huiqing Zhou; Hans van Bokhoven
Regulation of vitamin metabolism by p53 and p63 in development and cancer.
Cell cycle (Georgetown, Tex.) 2010;9(14):2709.
2010: Hans van Bokhoven; Jamie M Kramer
Disruption of the epigenetic code: an emerging mechanism in mental retardation.
Neurobiology of disease 2010;39(1):3-12.
2010: Arjan P M de Brouwer; Hans van Bokhoven; Sander B Nabuurs; W F M Arts; John Christodoulou; John A Duley
PRPS1 mutations: four distinct syndromes and potential treatment.
American journal of human genetics 2010;86(4):506-18.
2010: Marjolein H Willemsen; Bridget A Fernandez; Carlos A Bacino; Erica Gerkes; Arjan de Brouwer; Rolph Pfundt; Birgit Sikkema-Raddatz; Stephen W Scherer; Christian R Marshall; Lorraine Potocki; Hans van Bokhoven; Tjitske Kleefstra
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.
European journal of human genetics : EJHG 2010;18(4):429-35.
2010: Monique C M Balemans; Manon M H Huibers; Nathalie W D Eikelenboom; Arthur J Kuipers; Rik C J van Summeren; Michael M C A Pijpers; Makoto Tachibana; Yoichi Shinkai; Hans van Bokhoven; Catharina E E M van der Zee
Reduced exploration, increased anxiety, and altered social behavior: Autistic-like features of euchromatin histone methyltransferase 1 heterozygous knockout mice.
Behavioural brain research 2010;208(1):47-55.
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: Zafar Iqbal; Pilar Cejudo-Martin; Arjan de Brouwer; Bert van der Zwaag; Pilar Ruiz-Lozano; M Cecilia Scimia; James D Lindsey; Robert Weinreb; Beate Albrecht; Andre Megarbane; Yasemin Alanay; Ziva Ben-Neriah; Mariangela Amenduni; Rosangela Artuso; Joris Veltman; Ellen van Beusekom; Astrid Oudakker; José Luis Millán; Raoul Hennekam; Ben Hamel; Sara A Courtneidge; Hans van Bokhoven
Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome.
American journal of human genetics 2010;86(2):254-61.
2009: Stavros Bashiardes; Ludmila Kousoulidou; Hans van Bokhoven; Hans-Hilger Ropers; Jamel Chelly; Claude Moraine; Arjan de Brouwer; Hilde Van Esch; Guy Froyen; Philippos C Patsalis
A new chromosome x exon-specific microarray platform for screening of patients with X-linked disorders.
The Journal of molecular diagnostics : JMD 2009;11(6):562-8.
2009: Karlien L M Coene; Ronald Roepman; Dan Doherty; Bushra Afroze; Hester Y Kroes; Stef J F Letteboer; Lock H Ngu; Bartlomiej Budny; Erwin van Wijk; Nicholas T Gorden; Malika Azhimi; Christel Thauvin-Robinet; Joris Veltman; Mireille Boink; Tjitske Kleefstra; Frans P M Cremers; Hans van Bokhoven; Arjan de Brouwer
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.
American journal of human genetics 2009;85(4):465-81.
2009: Tuula Rinne; Emine Bolat; Rowdy Meijer; Hans Scheffer; Hans van Bokhoven
Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC).
American journal of medical genetics. Part A 2009;149A(9):1948-51.
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.
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: J F M Jacobs; Hans van Bokhoven; Frank N Van Leeuwen; Christina A Hulsbergen-van de Kaa; I Jolanda M De Vries; Gosse J Adema; Peter M Hoogerbrugge; Arjan de Brouwer
Regulation of MYCN expression in human neuroblastoma cells.
BMC cancer 2009;9():239.
2009: Jamie M Kramer; Hans van Bokhoven
Genetic and epigenetic defects in mental retardation.
The international journal of biochemistry & cell biology 2009;41(1):96-107.
2008: Carlo L M Marcelis; Frans A Hol; Gail E Graham; Paul N M A Rieu; Richard Kellermayer; Rowdy P P Meijer; Dorien Lugtenberg; Hans Scheffer; Hans van Bokhoven; Han G Brunner; Arjan de Brouwer
Genotype-phenotype correlations in MYCN-related Feingold syndrome.
Human mutation 2008;29(9):1125-32.
2008: Suzanna Gerarda Maria Frints; Steffen Lenzner; Marijke Bauters; Lars Riff Jensen; Hilde Van Esch; Vincent des Portes; Ute Moog; Merryn Victor Erik Macville; Kees van Roozendaal; Constance Theresia Rimbertha Maria Schrander-Stumpel; Andreas Tzschach; Peter Marynen; Jean-Pierre Fryns; Ben Hamel; Hans van Bokhoven; Jamel Chelly; Chérif Beldjord; Gillian Turner; Jozef Gecz; Claude Moraine; Martine Raynaud; Hans-Hilger Ropers; Guy Froyen; Andreas Walter Kuss
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.
European journal of human genetics : EJHG 2008;16(9):1029-37.
2008: Tuula Rinne; Suzanne E Clements; Evert Lamme; Pascal Duijf; Emine Bolat; Rowdy Meijer; Hans Scheffer; Elisabeth Rosser; Tiong Yang Tan; John A McGrath; Joost Schalkwijk; Han G Brunner; Huiqing Zhou; Hans van Bokhoven
A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes.
Human molecular genetics 2008;17(13):1968-77.
2008: Uwe Kornak; Ellen Reynders; Aikaterini Dimopoulou; Jeroen van Reeuwijk; Bjoern Fischer; Anna Rajab; Birgit Budde; Peter Nürnberg; Francois Foulquier; Dirk J Lefeber; Zsolt Urban; Stephanie Gruenewald; Willem ANNAERT; Han G Brunner; Hans van Bokhoven; Ron A Wevers; Eva Morava; Gert Matthijs; Lionel Van Maldergem; Stefan Mundlos
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.
Nature genetics 2008;40(1):32-4.
2007: Ludmila Kousoulidou; Sven Parkel; Olga Zilina; Priit Palta; Helen Puusepp; Maido Remm; Gillian Turner; Jackie Boyle; Hans van Bokhoven; Arjan de Brouwer; Hilde Van Esch; Guy Froyen; Hans-Hilger Ropers; Jamel Chelly; Claude Moraine; Jozef Gecz; Ants Kurg; Philippos C Patsalis
Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH.
European journal of medical genetics 2007;50(6):399-410.
2007: Anika H D M Dam; Isabelle Koscinski; Jan A M Kremer; Celine Moutou; Anne-Sophie Jaeger; Astrid R Oudakker; Herman Tournaye; Nicolas Charlet; Clotilde Lagier-Tourenne; Hans van Bokhoven; Stéphane Viville
Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia.
American journal of human genetics 2007;81(4):813-20.
2007: Dorien Lugtenberg; Joris Veltman; Hans van Bokhoven
High-resolution genomic microarrays for X-linked mental retardation.
Genetics in medicine : official journal of the American College of Medical Genetics 2007;9(9):560-5.
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: Jeroen van Reeuwijk; Prabhjit K Grewal; Mustafa A Salih; Daniel Beltrán-Valero de Bernabé; Jenny M McLaughlan; Caroline B Michielse; Ralf Herrmann; Jane E Hewitt; Alice Steinbrecher; Mohamed Z Seidahmed; Mohamed M Shaheed; Abdullah M Abomelha; Han G Brunner; Hans van Bokhoven; Thomas Voit
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.
Human genetics 2007;121(6):685-90.
2007: Tuula Rinne; Han G Brunner; Hans van Bokhoven
p63-associated disorders.
Cell cycle (Georgetown, Tex.) 2007;6(3):262-8.
2006: Caroline B Michielse; Meena Bhat; Angela Brady; Hussain Jafrid; José A J M van den Hurk; Yasmin Raashid; Han G Brunner; Hans van Bokhoven; George W Padberg
Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes.
European journal of human genetics : EJHG 2006;14(12):1306-12.
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: Tuula Rinne; Emanuela Spadoni; Klaus Wilbrandt Kjaer; Cesare Danesino; Daniela Larizza; Marianne Kock; Kirsi Huoponen; Marja-Liisa Savontaus; Markku Aaltonen; Pascal Duijf; Han G Brunner; Maila Penttinen; Hans van Bokhoven
Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene.
European journal of human genetics : EJHG 2006;14(8):904-10.
2006: David B Everman; Chad T Morgan; Robert Lyle; Mary E Laughridge; Michael Bamshad; Katie Clarkson; Randall Colby; Fiorella Gurrieri; A Micheil Innes; Jacquelyn Roberson; C T R M Schrander-Stumpel; Hans van Bokhoven; Stylianos E Antonarakis; Charles E Schwartz
Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation.
American journal of medical genetics. Part A 2006;140(13):1375-83.
2006: Tuula Rinne; Ben Hamel; Hans van Bokhoven; Han G Brunner
Pattern of p63 mutations and their phenotypes--update.
American journal of medical genetics. Part A 2006;140(13):1396-406.
2006: Jeroen van Reeuwijk; Svetlana Maugenre; Christa van den Elzen; Aad Verrips; Enrico Bertini; Francesco Muntoni; Luciano Merlini; Hans Scheffer; Han G Brunner; Pascale Guicheney; Hans van Bokhoven
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.
Human mutation 2006;27(5):453-9.
2006: Manir Ali; L J Highet; D Lacombe; C Goizet; M D King; U Tacke; M S van der Knaap; L Lagae; Christopher Rittey; Han G Brunner; Hans van Bokhoven; B Hamel; Y A Oade; A Sanchis; Isabelle Desguerre; D Cau; N Mathieu; Marie-Laure Moutard; Pierre Lebon; D Kumar; Andrew P Jackson; Yanick J Crow
A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21.
Journal of medical genetics 2006;43(5):444-50.
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: David A Koolen; Jos Herbergs; Joris Veltman; Rolph Pfundt; Hans van Bokhoven; Hans Stroink; Erik A Sistermans; Han G Brunner; Ad Geurts van Kessel; Bert B A de Vries
Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1.
Journal of human genetics 2006;51(8):721-6.
2006: Arjan de Brouwer; Hans van Bokhoven; Hannie Kremer
Comparison of 12 reference genes for normalization of gene expression levels in Epstein-Barr virus-transformed lymphoblastoid cell lines and fibroblasts.
Molecular diagnosis & therapy 2006;10(3):197-204.
2006: Olivier Hagens; Aline Dubos; fatima abidi; Gotthold Barbi; Laura Van Zutven; Maria Hoeltzenbein; Niels Tommerup; Claude Moraine; Jean-Pierre Fryns; Jamel Chelly; Hans van Bokhoven; Jozef Gécz; Hélène Dollfus; Hans-Hilger Ropers; Charles E Schwartz; Rita de Cassia Stocco Dos Santos; Vera Kalscheuer; André Hanauer
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.
Human genetics 2006;118(5):578-90.
2005: Jeroen van Reeuwijk; M Janssen; Christa van den Elzen; D Beltran-Valero de Bernabé; Patrizia Sabatelli; Luciano Merlini; M Boon; Hans Scheffer; Martin Brockington; F Muntoni; M A Huynen; Aad Verrips; Christopher Walsh; P G Barth; Han G Brunner; Hans van Bokhoven
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.
Journal of medical genetics 2005;42(12):907-12.
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: Ernie M H F Bongers; Albert Van Kampen; Hans van Bokhoven; Nine V A M Knoers
Human syndromes with congenital patellar anomalies and the underlying gene defects.
Clinical genetics 2005;68(4):302-19.
2005: Ilse Roodink; Jos M H Raats; Bert van der Zwaag; Kiek Verrijp; Benno Kusters; Hans van Bokhoven; Marianne Linkels; Robert M W de Waal; William P J Leenders
Plexin D1 expression is induced on tumor vasculature and tumor cells: a novel target for diagnosis and therapy?
Cancer research 2005;65(18):8317-23.
2005: Bert van der Zwaag; J Peter H Burbach; Han G Brunner; Hans van Bokhoven; George W Padberg
Nucleotide variation analysis does not support a causal role for plexin-A1 in hereditary congenital facial paresis.
Brain research. Developmental brain research 2005;158(1-2):66-71.
2005: Ernie M H F Bongers; Frans T Huysmans; Elena N Levtchenko; Jacky W de Rooy; Johan G Blickman; Ronald J C Admiraal; Patrick Huygen; J R M Cruysberg; Pauline A M P Toolens; Judith B Prins; Paul Krabbe; George F Borm; Jeroen Schoots; Hans van Bokhoven; Angela M F van Remortele; Lies Hoefsloot; Albert Van Kampen; Nine V A M Knoers
Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy.
European journal of human genetics : EJHG 2005;13(8):935-46.
2005: Bert van der Zwaag; J Peter H Burbach; Curt Scharfe; Peter J Oefner; Han G Brunner; George W Padberg; Hans van Bokhoven
Identifying new candidate genes for hereditary facial paresis on chromosome 3q21-q22 by RNA in situ hybridization in mouse.
Genomics 2005;86(1):55-67.
2005: Eva Morava; A Dinopoulos; H Y Kroes; Richard J T Rodenburg; Hans van Bokhoven; Lambert P van den Heuvel; Jan A M Smeitink
Mitochondrial dysfunction in a patient with Joubert syndrome.
Neuropediatrics 2005;36(3):214-7.
2005: Han G Brunner; Hans van Bokhoven
Genetic players in esophageal atresia and tracheoesophageal fistula.
Current opinion in genetics & development 2005;15(3):341-7.
2005: Hans van Bokhoven; Jacopo Celli; Jeroen van Reeuwijk; Tuula Rinne; Bob Glaudemans; Ellen van Beusekom; Paul Rieu; Ruth Newbury-Ecob; Chin Chiang; Han G Brunner
MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.
Nature genetics 2005;37(5):465-7.
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: Jeroen van Reeuwijk; Han G Brunner; Hans van Bokhoven
Glyc-O-genetics of Walker-Warburg syndrome.
Clinical genetics 2005;67(4):281-9.
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: Bert van der Zwaag; Harriëtte T F M Verzijl; Karin H Wichers; Daniel Beltran-Valero de Bernabe; Han G Brunner; Hans van Bokhoven; George W Padberg
Sequence analysis of the PLEXIN-D1 gene in Möbius syndrome patients.
Pediatric neurology 2004;31(2):114-8.
2004: Kristine Freude; Kirsten Hoffmann; Lars Riff Jensen; Martin B Delatycki; Vincent des Portes; Bettina Moser; Ben Hamel; Hans van Bokhoven; Claude Moraine; Jean-Pierre Fryns; Jamel Chelly; Jozef Gécz; Steffen Lenzner; Vera Kalscheuer; Hans-Hilger Ropers
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation.
American journal of human genetics 2004;75(2):305-9.
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: 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: Sarah A Shoichet; Kirsten Hoffmann; Corinna Menzel; Udo Trautmann; Bettina Moser; Maria Hoeltzenbein; Bernard Echenne; Michael Partington; Hans van Bokhoven; Claude Moraine; Jean-Pierre Fryns; Jamel Chelly; Hans-Dieter Rott; Hans-Hilger Ropers; Vera Kalscheuer
Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation.
American journal of human genetics 2003;73(6):1341-54.
2003: D Beltrán-Valero de Bernabé; Hans van Bokhoven; Ellen van Beusekom; W Van den Akker; S Kant; William B Dobyns; Bru Cormand; S Currier; B Hamel; Beril Talim; H Topaloglu; Han G Brunner
A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.
Journal of medical genetics 2003;40(11):845-8.
2003: Jacopo Celli; Hans van Bokhoven; Han G Brunner
Feingold syndrome: clinical review and genetic mapping.
American journal of medical genetics. Part A 2003;122A(4):294-300.
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: Suzanna G M Frints; Lin Jun; Jean-Pierre Fryns; koenraad devriendt; Rudi Teulingkx; Lut Van den Berghe; Bernice De Vos; Martine Borghgraef; Jamel Chelly; Vincent des Portes; Hans van Bokhoven; Ben Hamel; Hans-Hilger Ropers; Vera Kalscheuer; Martine Raynaud; Claude Moraine; Peter Marynen; Guy Froyen
Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene.
American journal of medical genetics. Part A 2003;119A(3):367-74.
2003: Pascal Duijf; Hans van Bokhoven; Han G Brunner
Pathogenesis of split-hand/split-foot malformation.
Human molecular genetics 2003;12 Spec No 1():R51-60.
2002: Pamela Ghioni; Fabrizio Bolognese; Pascal Duijf; Hans van Bokhoven; Roberto Mantovani; Luisa Guerrini
Complex transcriptional effects of p63 isoforms: identification of novel activation and repression domains.
Molecular and cellular biology 2002;22(24):8659-68.
2002: Zach Serber; Helen C Lai; Annie Yang; Horng D Ou; Martina S Sigal; Alexander E Kelly; Beatrice D Darimont; Pascal Duijf; Hans van Bokhoven; Frank McKeon; Volker Dötsch
A C-terminal inhibitory domain controls the activity of p63 by an intramolecular mechanism.
Molecular and cellular biology 2002;22(24):8601-11.
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: Bert van der Zwaag; Anita J C G M Hellemons; William P J Leenders; J Peter H Burbach; Han G Brunner; George W Padberg; Hans van Bokhoven
PLEXIN-D1, a novel plexin family member, is expressed in vascular endothelium and the central nervous system during mouse embryogenesis.
Developmental dynamics : an official publication of the American Association of Anatomists 2002;225(3):336-43.
2002: Daniel Beltrán-Valero de Bernabé; Sophie Currier; Alice Steinbrecher; Jacopo Celli; Ellen van Beusekom; Bert van der Zwaag; Hulya Kayserili; Luciano Merlini; David Chitayat; William B Dobyns; Bru Cormand; Anna-Elina Lehesjoki; Jesús Cruces; Thomas Voit; Christopher Walsh; Hans van Bokhoven; Han G Brunner
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
American journal of human genetics 2002;71(5):1033-43.
2002: L L Barrow; Hans van Bokhoven; Sandra Daack-Hirsch; T Andersen; Sylvia van Beersum; R Gorlin; Jeffrey C Murray
Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts.
Journal of medical genetics 2002;39(8):559-66.
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: Hans van Bokhoven; Han G Brunner
Splitting p63.
American journal of human genetics 2002;71(1):1-13.
2002: Bert van der Zwaag; Harriëtte T F M Verzijl; D Beltran-Valero De Bernabe; Victor Schuster; Hans van Bokhoven; Hannie Kremer; M van Reen; G H Wichers; Han G Brunner; George W Padberg
Mutation analysis in the candidate Möbius syndrome genes PGT and GATA2 on chromosome 3 and EGR2 on chromosome 10.
Journal of medical genetics 2002;39(6):E30.
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: Thierry Bienvenu; Karine Poirier; Gaëlle Friocourt; Nadia Bahi; Delphine Beaumont; Fabien Fauchereau; Lamia Ben Jeema; Ramzi Zemni; Marie-Claude Vinet; Fiona Francis; Philippe Couvert; Marie Gomot; Claude Moraine; Hans van Bokhoven; Vera Kalscheuer; Suzanna G M Frints; Jozef Gecz; Kanae Ohzaki; Habiba Chaabouni; Jean-Pierre Fryns; Vincent Desportes; Cherif Beldjord; Jamel Chelly
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.
Human molecular genetics 2002;11(8):981-91.
2002: Pascal Duijf; Kaate R J Vanmolkot; Peter Propping; Waltraut Friedl; Elmar Krieger; Frank McKeon; Volker Dötsch; Han G Brunner; Hans van Bokhoven
Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63.
Human molecular genetics 2002;11(7):799-804.
2002: Hans van Bokhoven; Frank McKeon
Mutations in the p53 homolog p63: allele-specific developmental syndromes in humans.
Trends in molecular medicine 2002;8(3):133-9.
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: 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: Ingrid Witters; Hans van Bokhoven; A Goossens; F André Van Assche; Jean-Pierre Fryns
Split-hand/split-foot malformation with paternal mutation in the p63 gene.
Prenatal diagnosis 2001;21(13):1119-22.
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.
2000: Iwan C Meij; Jan B Koenderink; Hans van Bokhoven; Karin Assink; W T Groenestege; Jan Joep H H M de Pont; René J M Bindels; Leo A H Monnens; Lambert P van den Heuvel; Nine V A M Knoers
Dominant isolated renal magnesium loss is caused by misrouting of the Na(+),K(+)-ATPase gamma-subunit.
Nature genetics 2000;26(3):265-6.
2000: Jean-Pierre Fryns; Martine Borghgraef; T W Brown; Jamel Chelly; Gene S Fisch; Ben Hamel; André Hanauer; D Lacombe; L Luo; J N MacPherson; J L Mandel; Claude Moraine; John C Mulley; D Nelson; B Oostra; Michael Partington; G J Ramakers; Hans-Hilger Ropers; Francois Rousseau; C Schwartz; P Steinbach; claude stoll; L Tranebjaerg; Gillian Turner; Hans van Bokhoven; A Vianna-Morgante
9th international workshop on fragile X syndrome and X-linked mental retardation.
American journal of medical genetics 2000;94(5):345-60.
2000: Nine V A M Knoers; Ernie M H F Bongers; Sylvia van Beersum; E J Lommen; Hans van Bokhoven; Frans A Hol
Nail-patella syndrome: identification of mutations in the LMX1B gene in Dutch families.
Journal of the American Society of Nephrology : JASN 2000;11(9):1762-6.
2000: Thierry Bienvenu; Vincent des Portes; N McDonell; Alain Carrié; Ramzi Zemni; Philippe Couvert; Hans-Hilger Ropers; Claude Moraine; Hans van Bokhoven; Jean-Pierre Fryns; K Allen; Christopher Walsh; J Boué; Axel Kahn; Jamel Chelly; Cherif Beldjord
Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation.
American journal of medical genetics 2000;93(4):294-8.
2000: Hans van Bokhoven; Jacopo Celli; Hulya Kayserili; Ellen van Beusekom; S Balci; W Brussel; F Skovby; B Kerr; E F Percin; N Akarsu; Han G Brunner
Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.
Nature genetics 2000;25(4):423-6.
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: FJ Opdam; G Kamps; Huib Croes; Hans van Bokhoven; LA Ginsel; Jack Fransen
Expression of Rab small GTPases in epithelial Caco-2 cells: Rab21 is an apically located GTP-binding protein in polarised intestinal epithelial cells.
European journal of cell biology 2000;79(5):308-16.
2000: Jacopo Celli; Ellen van Beusekom; Raoul Hennekam; M E Gallardo; D F Smeets; Santiago Rodríguez de Córdoba; Jeffrey W Innis; M Frydman; R König; H Kingston; John Tolmie; L C Govaerts; Hans van Bokhoven; Han G Brunner
Familial syndromic esophageal atresia maps to 2p23-p24.
American journal of human genetics 2000;66(2):436-44.
2000: Ramzi Zemni; Thierry Bienvenu; Marie-Claude Vinet; abdelaziz sefiani; Alain Carrié; Pierre Billuart; N McDonell; Philippe Couvert; Fiona Francis; Philippe Chafey; Fabien Fauchereau; Gaëlle Friocourt; Vincent des Portes; A Cardona; Suzanna G M Frints; Alfons Meindl; Oliver Brandau; Nathalie Ronce; Claude Moraine; Hans van Bokhoven; Hans-Hilger Ropers; Ralf Sudbrak; Axel Kahn; Jean-Pierre Fryns; Cherif Beldjord; Jamel Chelly
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.
Nature genetics 2000;24(2):167-70.
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: 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: Vincent des Portes; Cherif Beldjord; Jamel Chelly; Ben Hamel; H Kremer; A Smits; Hans van Bokhoven; Hans-Hilger Ropers; S Claes; J P Fryns; Nathalie Ronce; Chantal Gendrot; Annick Toutain; Martine Raynaud; Claude Moraine
X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families: the European XLMR consortium.
American journal of medical genetics 1999;85(3):263-5.
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: 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: 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: Thierry Bienvenu; Vincent des Portes; A Saint Martin; N McDonell; Pierre Billuart; Alain Carrié; Marie-Claude Vinet; Philippe Couvert; D Toniolo; Hans-Hilger Ropers; Claude Moraine; Hans van Bokhoven; Jean-Pierre Fryns; Axel Kahn; Cherif Beldjord; Jamel Chelly
Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor.
Human molecular genetics 1998;7(8):1311-5.
1997: José A J M van den Hurk; Wiljan Hendriks; Dorien J R van De Pol; Frank Oerlemans; Gesine B Jaissle; K Rüther; K Kohler; J Hartmann; Eberhart Zrenner; Hans van Bokhoven; Bé Wieringa; Hans-Hilger Ropers; Frans P M Cremers
Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline.
Human molecular genetics 1997;6(6):851-8.
1997: Hans van Bokhoven; J Kissing; Marga Schepens; Sylvia van Beersum; A Simons; P Riegman; J A McMahon; A P McMahon; Han G Brunner
Assignment of WNT7B to human chromosome band 22q13 by in situ hybridization.
Cytogenetics and cell genetics 1997;77(3-4):288-9.
1997: José A J M van den Hurk; M Schwartz; Hans van Bokhoven; T J R van de Pol; L Bogerd; Alfred J L G Pinckers; EM Bleeker-Wagemakers; I H Pawlowitzki; K Rüther; Hans-Hilger Ropers; Frans P M Cremers
Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene.
Human mutation 1997;9(2):110-7.
1996: Hans van Bokhoven; R B Rawson; Gerard F M Merkx; Frans P M Cremers; Miguel C Seabra
cDNA cloning and chromosomal localization of the genes encoding the alpha- and beta-subunits of human Rab geranylgeranyl transferase: the 3' end of the alpha-subunit gene overlaps with the transglutaminase 1 gene promoter.
Genomics 1996;38(2):133-40.
1996: Hans van Bokhoven; José A J M van den Hurk; L Bogerd; Dorien J R van De Pol; Hans-Hilger Ropers; Frans P M Cremers
A highly polymorphic microsatellite marker located within the choroideremia gene.
Ophthalmic genetics 1996;17(3):119-21.
1995: Vesna Ponjavic; Magnus Abrahamson; Sten Andréasson; Hans van Bokhoven; Frans P M Cremers; Berndt Ehinger; G Fex
Phenotype variations within a choroideremia family lacking the entire CHM gene.
Ophthalmic genetics 1995;16(4):143-50.
1995: C Philippe; C Arnould; F Sloan; Hans van Bokhoven; Saskia D van der Velde-Visser; M Chery; Hans-Hilger Ropers; S Gilgenkrantz; Anthony P Monaco; Frans P M Cremers
A high-resolution interval map of the q21 region of the human X chromosome.
Genomics 1995;27(3):539-43.
1995: S M van der Maarel; I H Scholten; anneke maat-kievit; I Huber; Yvette J M de Kok; Ilse J de Wijs; T J van de Pol; Hans van Bokhoven; J T den Dunnen; G J van Ommen
Yeast artificial chromosome cloning of the Xq13.3-q21.31 region and fine mapping of a deletion associated with choroideremia and nonspecific mental retardation.
European journal of human genetics : EJHG 1995;3(4):207-18.
1994: Hans van Bokhoven; C van Genderen; Hans-Hilger Ropers; Frans P M Cremers
Dinucleotide repeat polymorphism within the choroideremia gene at Xq21.2.
Human molecular genetics 1994;3(8):1446.
1994: Hans van Bokhoven; Marianne Schwartz; Sten Andréasson; José A J M van den Hurk; L Bogerd; M Jay; K Rüther; B Jay; I H Pawlowitzki; Eeva-Marja Sankila
Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients.
Human molecular genetics 1994;3(7):1047-51.
1994: Hans van Bokhoven; José A J M van den Hurk; L Bogerd; C Philippe; S Gilgenkrantz; P de Jong; Hans-Hilger Ropers; Frans P M Cremers
Cloning and characterization of the human choroideremia gene.
Human molecular genetics 1994;3(7):1041-6.