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Patrick Willems

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Judith M A Verhagen; Anna C Verkleij-Hagoort; Patrick J Willems; Stella A de Man; Karin E M Diderich; Frederik A du Plessis; Alex J Eggink; Irene A L Groenenberg; Lorette O M Hulsman; Grazia M S Mancini; Grétel Oudesluijs; Malgorzata Srebniak; Diane Van Opstal; Laura J C M van Zutven; Marja W Wessels
Phenotypic variability of atypical 22q11.2 deletions not including TBX1.
Marja W Wessels; Patrick J Willems
Arterial anomalies in arterial tortuosity syndrome: a sour-sweet pathology?
Ingrid M B H van de Laar; Rogier A Oldenburg; Gerard Pals; Jolien Roos-Hesselink; Bianca de Graaf; Judith M A Verhagen; Yvonne M Hoedemaekers; Rob Willemsen; Lies-Anne Severijnen; Hanka Venselaar; Gert Vriend; Peter M Pattynama; Margriet Collée; Danielle Majoor-Krakauer; Don Poldermans; Ingrid M E Frohn-Mulder; Dimitra Micha; Janneke Timmermans; Yvonne Hilhorst-Hofstee; Sita M Bierma-Zeinstra; Patrick J Willems; Johan M Kros; Edwin H G Oei; Ben A Oostra; Marja W Wessels; Aida M Bertoli Avella
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.

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All Publications

2012: Judith M A Verhagen; Anna C Verkleij-Hagoort; Patrick J Willems; Stella A de Man; Karin E M Diderich; Frederik A du Plessis; Alex J Eggink; Irene A L Groenenberg; Lorette O M Hulsman; Grazia M S Mancini; Grétel Oudesluijs; Malgorzata Srebniak; Diane Van Opstal; Laura J C M van Zutven; Marja W Wessels
Phenotypic variability of atypical 22q11.2 deletions not including TBX1.
American journal of medical genetics. Part A 2012;158A(10):2412-20.
2012: Marja W Wessels; Patrick J Willems
Arterial anomalies in arterial tortuosity syndrome: a sour-sweet pathology?
Clinical genetics 2012;82(1):30-2.
2011: Ingrid M B H van de Laar; Rogier A Oldenburg; Gerard Pals; Jolien Roos-Hesselink; Bianca de Graaf; Judith M A Verhagen; Yvonne M Hoedemaekers; Rob Willemsen; Lies-Anne Severijnen; Hanka Venselaar; Gert Vriend; Peter M Pattynama; Margriet Collée; Danielle Majoor-Krakauer; Don Poldermans; Ingrid M E Frohn-Mulder; Dimitra Micha; Janneke Timmermans; Yvonne Hilhorst-Hofstee; Sita M Bierma-Zeinstra; Patrick J Willems; Johan M Kros; Edwin H G Oei; Ben A Oostra; Marja W Wessels; Aida M Bertoli Avella
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.
Nature genetics 2011;43(2):121-6.
2010: Marlies J Valstar; Aida M Bertoli Avella; Marja W Wessels; George J G Ruijter; Bianca de Graaf; Renske Olmer; Peter Elfferich; Sanne Neijs; Roxana Kariminejad; Fatih Suheyl Ezgü; Aysegul Tokatli; Barbara Czartoryska; Ad N Bosschaart; Feikje van den Bos-Terpstra; Hugues Puissant; Friederike Bürger; Heymut Omran; D Eckert; Mirella Filocamo; Emil Simeonov; Patrick J Willems; Ron A Wevers; Martinus F Niermeijer; D J J Halley; B J H M Poorthuis; Otto P van Diggelen
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.
Human mutation 2010;31(5):E1348-60.
2009: Annemieke J M H Verkerk; Rachel Schot; Belinda Dumee; Karlijn Schellekens; SM Swagemakers; Aida M Bertoli Avella; Maarten H Lequin; Jeroen Dudink; Paul Govaert; A L van Zwol; Jennifer Hirst; Marja W Wessels; Coriene E Catsman-Berrevoets; Frans W Verheijen; Esther de Graaff; I F M de Coo; Johan M Kros; Rob Willemsen; Patrick J Willems; Peter van der Spek; Grazia M S Mancini
Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.
American journal of human genetics 2009;85(1):40-52.
2009: Marja W Wessels; Ingrid M B H van de Laar; Jolien Roos-Hesselink; Sipke Strikwerda; Danielle Majoor-Krakauer; Bert B A de Vries; Wilhelmina S Kerstjens-Frederikse; Yvonne J Vos; Bianca de Graaf; Aida M Bertoli Avella; Patrick J Willems
Autosomal dominant inheritance of cardiac valves anomalies in two families: extended spectrum of left-ventricular outflow tract obstruction.
American journal of medical genetics. Part A 2009;149A(2):216-25.
2008: Marja W Wessels; Avraham Avital; Mike Failly; Analia Munoz; Heymut Omran; Jean-Louis Blouin; Patrick J Willems
Candidate gene analysis in three families with acilia syndrome.
American journal of medical genetics. Part A 2008;146A(13):1765-7.
2008: Marja W Wessels; Patrick J Willems
Mutations in sarcomeric protein genes not only lead to cardiomyopathy but also to congenital cardiovascular malformations.
Clinical genetics 2008;74(1):16-9.
2008: Marja W Wessels; Bianca de Graaf; Titia E Cohen-Overbeek; Silja E Spitaels; Lotte E de Groot-de Laat; Folkert J Ten Cate; Ingrid F M Frohn-Mulder; Ronald R de Krijger; Margot M Bartelings; Nienke Essed; Jury W Wladimiroff; Martinus F Niermeijer; Peter Heutink; Ben A Oostra; Dennis Dooijes; Aida M Bertoli Avella; Patrick J Willems
A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p.
Human genetics 2008;122(6):595-603.
2006: Alice S Brooks; P A Leegwater; Grzegorz Burzynski; Patrick J Willems; Bianca de Graaf; I van Langen; Peter Heutink; Ben A Oostra; Robert M W Hofstra; Aida M Bertoli Avella
A novel susceptibility locus for Hirschsprung's disease maps to 4q31.3-q32.3.
Journal of medical genetics 2006;43(7):e35.
2006: Kristien P Hoornaert; C Dewinter; I Vereecke; Frits A Beemer; Winnie Courtens; Alan Fryer; H Fryssira; M Lees; A Müllner-Eidenböck; David L Rimoin; L Siderius; andrea superti-furga; K Temple; Patrick J Willems; Andreas Zankl; C Zweier; Anne De Paepe; Paul Coucke; Geert R Mortier
The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene.
Journal of medical genetics 2006;43(5):406-13.
2006: Paul J Coucke; Andy Willaert; Marja W Wessels; Bert Callewaert; Nicoletta Zoppi; Julie De Backer; Joyce Fox; Grazia M S Mancini; Marios Kambouris; Rita Gardella; Fabio Facchetti; Patrick J Willems; Ramses Forsyth; Harry C Dietz; Sergio Barlati; Marina Colombi; Bart Loeys; Anne De Paepe
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.
Nature genetics 2006;38(4):452-7.
2005: Alice S Brooks; Aida M Bertoli Avella; Grzegorz Burzynski; Guido J Breedveld; Jan Osinga; Ludolf G Boven; Jane A Hurst; Grazia M S Mancini; Maarten H Lequin; René F M de Coo; Ivana Matera; Esther de Graaff; Carel Meijers; Patrick J Willems; Dick Tibboel; Ben A Oostra; Robert M W Hofstra
Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.
American journal of human genetics 2005;77(1):120-6.
2005: Marja W Wessels; Rolf M F Berger; Ingrid M E Frohn-Mulder; Jolien Roos-Hesselink; Jeannette Hoogeboom; Grazia S Mancini; Margot M Bartelings; Ronald de Krijger; Jury W Wladimiroff; Martinus F Niermeijer; Paul Grossfeld; Patrick J Willems
Autosomal dominant inheritance of left ventricular outflow tract obstruction.
American journal of medical genetics. Part A 2005;134A(2):171-9.
2004: Marja W Wessels; Coriene E Catsman-Berrevoets; Grazia M S Mancini; Martijn H Breuning; Jeannette Hoogeboom; Hans Stroink; Ingrid M E Frohn-Mulder; Paul J Coucke; Anne De Paepe; Martinus F Niermeijer; Patrick J Willems
Three new families with arterial tortuosity syndrome.
American journal of medical genetics. Part A 2004;131(2):134-43.
2003: Paul J Coucke; Marja W Wessels; Petra Van Acker; Rita Gardella; Sergio Barlati; Patrick J Willems; Marina Colombi; Anne De Paepe
Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13.
Journal of medical genetics 2003;40(10):747-51.
2003: Marja W Wessels; Nicolette S den Hollander; Ronald R de Krijger; Luisa Bonifé; andrea superti-furga; Peter Nikkels; Patrick J Willems
Prenatal diagnosis of boomerang dysplasia.
American journal of medical genetics. Part A 2003;122A(2):148-54.
2003: Marja W Wessels; Nicolette J Den Hollander; Ronald R de Krijger; Peter Nikkels; Helen Brandenburg; Raoul Hennekam; Patrick J Willems
Fetus with an unusual form of nonrhizomelic chondrodysplasia punctata: case report and review.
American journal of medical genetics. Part A 2003;120A(1):97-104.
2003: Marja W Wessels; Nicolette S den Hollander; Patrick J Willems
Mild fetal cerebral ventriculomegaly as a prenatal sonographic marker for Kartagener syndrome.
Prenatal diagnosis 2003;23(3):239-42.
2003: Marja W Wessels; Frans J Los; Ingrid M E Frohn-Mulder; Martinus F Niermeijer; Patrick J Willems; Jury W Wladimiroff
Poor outcome in Down syndrome fetuses with cardiac anomalies or growth retardation.
American journal of medical genetics. Part A 2003;116A(2):147-51.
2002: Marja W Wessels; Nicolette S den Hollander; Titia E Cohen-Overbeek; M S Lesnik Oberstein; R M Nash; Juriy W Wladimiroff; Martinus F Niermeijer; Patrick J Willems
Prenatal diagnosis and confirmation of the acrofacial dysostosis syndrome type Rodriguez.
American journal of medical genetics 2002;113(1):97-100.
2002: Marja W Wessels; Alice S Brooks; Jeannette Hoogeboom; Martinus F Niermeijer; Patrick J Willems
Kabuki syndrome: a review study of three hundred patients.
Clinical dysmorphology 2002;11(2):95-102.
2002: Alice S Brooks; Marieke F van Dooren; Jeannette Hoogeboom; Saskia Gischler; Patrick J Willems; Dick Tibboel
Congenital diaphragmatic hernia in a female patient with craniofrontonasal syndrome.
Clinical dysmorphology 2002;11(2):151-3.
2002: Wendy Balemans; N Patel; M Ebeling; Els Van Hul; Wim Wuyts; C Lacza; M Dioszegi; Frederik G Dikkers; P Hildering; Patrick J Willems; Joke B G M Verheij; Klaus Lindpaintner; B Vickery; Dorothee Foernzler; Wim Van Hul
Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease.
Journal of medical genetics 2002;39(2):91-7.
2002: Paul J Govaerts; Geert De Ceulaer; Kristin Daemers; Kristien Verhoeven; Guy Van Camp; Isabelle Schatteman; Margriet Verstreken; Patrick J Willems; Thomas Somers; F Erwin Offeciers
Clinical presentation of DFNA8-DFNA12.
Advances in oto-rhino-laryngology 2002;61():60-5.
2000: Mieke M van Haelst; Alice S Brooks; Jeannette Hoogeboom; Marja W Wessels; Dick Tibboel; Johan C de Jongste; J C den Hollander; J J Bongers-Schokking; Martinus F Niermeijer; Patrick J Willems
Unexpected life-threatening complications in Kabuki syndrome.
American journal of medical genetics 2000;94(2):170-3.
2000: Margriet Verstreken; Frank Declau; Isabelle Schatteman; D Van Velzen; Kristien Verhoeven; Guy Van Camp; Patrick J Willems; E W Kuhweide; E Verhaert; P D'Haese; Floris L Wuyts; Paul H Van De Heyning
Audiometric analysis of a Belgian family linked to the DFNA10 locus.
The American journal of otology 2000;21(5):675-81.
2000: Wim Wuyts; W Reardon; S Preis; T Homfray; A Rasore-Quartino; H Christians; Patrick J Willems; Wim Van Hul
Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna.
Human molecular genetics 2000;9(8):1251-5.
2000: Patrick J Willems
Genetic causes of hearing loss.
The New England journal of medicine 2000;342(15):1101-9.
2000: Elke Holinski-Feder; Edwin Reyniers; Sabine Uhrig; Astrid Golla; Jan Wauters; Peter M Kroisel; P Bossuyt; Imma Rost; Kerry Baldwin Jedele; H Zierler; S Schwab; D Wildenauer; Michael R Speicher; Patrick J Willems; Thomas Meitinger; R Frank Kooy
Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3).
American journal of human genetics 2000;66(1):16-25.
1999: G Delaere; K Stuer; Katrien Storm; Patrick J Willems; Wim Van Hul
A novel frameshift mutation (1651ins5) in exon 10 of the CFTR gene can be misinterpreted as a DeltaF508 mutation.
Human mutation 1999;14(3):271.
1999: R Frank Kooy; Edwin Reyniers; Katrien Storm; Lieve Vits; D Van Velzen; Petra E de Ruiter; A O Brinkmann; A de Paepe; Patrick J Willems
CAG repeat contraction in the androgen receptor gene in three brothers with mental retardation.
American journal of medical genetics 1999;85(3):209-13.
1999: R Frank Kooy; Edwin Reyniers; Marleen Verhoye; Jan Sijbers; Cathy E Bakker; Ben A Oostra; Patrick J Willems; Annemie Van der Linden
Neuroanatomy of the fragile X knockout mouse brain studied using in vivo high resolution magnetic resonance imaging.
European journal of human genetics : EJHG 1999;7(5):526-32.
1999: Guy Van Camp; Henricus P M Kunst; Kris Flothmann; Wyman T McGuirt; Jan Wauters; Henri Marres; Margriet Verstreken; Irina N Bespalova; Margit Burmeister; Paul H Van De Heyning; Richard J H Smith; Patrick J Willems; Cor W R J Cremers; Marci M Lesperance
A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus.
Journal of medical genetics 1999;36(7):532-6.
1999: Paul J Coucke; Peter Van Hauwe; P M Kelley; Henricus P M Kunst; Isabelle Schatteman; D Van Velzen; J Meyers; Robbert J H Ensink; Margriet Verstreken; Frank Declau; Henri Marres; K Kastury; S Bhasin; Wyman T McGuirt; Richard J H Smith; Cor W R J Cremers; Paul Van de Heyning; Patrick J Willems; Shelley D Smith; Guy Van Camp
Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.
Human molecular genetics 1999;8(7):1321-8.
1999: Rob Willemsen; B Anar; Yolanda De diego Otero; Bert B A de Vries; Y Hilhorst-Hofstee; A Smits; E van Looveren; Patrick J Willems; H Galjaard; Ben A Oostra
Noninvasive test for fragile X syndrome, using hair root analysis.
American journal of human genetics 1999;65(1):98-103.
1999: Paul J Coucke; Peter Van Hauwe; LA Everett; O Demirhan; Y Kabakkaya; N L Dietrich; Richard J H Smith; E Coyle; William Reardon; Richard C Trembath; Patrick J Willems; Eric Green; Guy Van Camp
Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome.
Journal of medical genetics 1999;36(6):475-7.
1999: Wendy Balemans; Jenneke van den Ende; A Freire Paes-Alves; Frederik G Dikkers; Patrick J Willems; Filip Vanhoenacker; N de Almeida-Melo; C F Alves; Constantine Straturis; S C Hill; Wim Van Hul
Localization of the gene for sclerosteosis to the van Buchem disease-gene region on chromosome 17q12-q21.
American journal of human genetics 1999;64(6):1661-9.
1999: Jan Hendrickx; P Lee; J P Keating; D Carton; I B Sardharwalla; M Tuchman; C Baussan; Patrick J Willems
Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II.
American journal of human genetics 1999;64(6):1541-9.
1999: Edwin Reyniers; J J Martin; Patrick cras; E Van Marck; I Handig; H Z Jorens; Ben A Oostra; R Frank Kooy; Patrick J Willems
Postmortem examination of two fragile X brothers with an FMR1 full mutation.
American journal of medical genetics 1999;84(3):245-9.
1999: Jeanette J A Holden; M Percy; DJ Allingham-Hawkins; W Ted Brown; Pietro Chiurazzi; Gene S Fisch; Louise W Gane; Chris Gunter; Randi J Hagerman; Edmund C. Jenkins; R F Kooy; HA Lubs; A Murray; G Neri; C Schwartz; Lisbeth Tranebjaerg; L Villard; Patrick J Willems
Eighth International workshop on the fragile X syndrome and X-linked mental retardation, August 16-22, 1997.
American journal of medical genetics 1999;83(4):221-36.
1999: Wim Wuyts; N Spieker; Nadine Van Roy; K De Boulle; A De Paepe; Patrick J Willems; Wim Van Hul; Rogier Versteeg; Frank Speleman
Refined physical mapping and genomic structure of the EXTL1 gene.
Cytogenetics and cell genetics 1999;86(3-4):267-70.
1999: Patrick J Willems; H C Seo; P Coucke; R Tonlorenzi; John S O'Brien
Spectrum of mutations in fucosidosis.
European journal of human genetics : EJHG 1999;7(1):60-7.
1999: Kristien Verhoeven; Robbert J H Ensink; V Tiranti; Patrick Huygen; DF Johnson; Isabelle Schatteman; Lut Van Laer; Margriet Verstreken; Paul Van de Heyning; Nathan Fischel-Ghodsian; M Zeviani; Cor W R J Cremers; Patrick J Willems; Guy Van Camp
Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene.
European journal of human genetics : EJHG 1999;7(1):45-51.
1998: Paul J Govaerts; Geert De Ceulaer; Kristin Daemers; Kristien Verhoeven; Guy Van Camp; Isabelle Schatteman; Margriet Verstreken; Patrick J Willems; Thomas Somers; F Erwin Offeciers
A new autosomal-dominant locus (DFNA12) is responsible for a nonsyndromic, midfrequency, prelingual and nonprogressive sensorineural hearing loss.
The American journal of otology 1998;19(6):718-23.
1998: Lut Van Laer; Egbert H Huizing; Margriet Verstreken; Diederick van Zuijlen; Jan Wauters; P J Bossuyt; Paul Van de Heyning; Wyman T McGuirt; Richard J H Smith; Patrick J Willems; P Kevin Legan; Guy P Richardson; Guy Van Camp
Nonsyndromic hearing impairment is associated with a mutation in DFNA5.
Nature genetics 1998;20(2):194-7.
1998: Peter Van Hauwe; LA Everett; P Coucke; Daryl A Scott; M L Kraft; Carrie Ris Stalpers; CH Bolder; BJ Otten; Jan J M de Vijlder; N L Dietrich; Arabandi Ramesh; S C Srisailapathy; A Parving; Cor W R J Cremers; Patrick J Willems; Richard J H Smith; Eric Green; Guy Van Camp
Two frequent missense mutations in Pendred syndrome.
Human molecular genetics 1998;7(7):1099-104.
1998: Erik Fransen; Rudi D'Hooge; Guy Van Camp; Marleen Verhoye; Jan Sijbers; Edwin Reyniers; P Soriano; Hiroyuki Kamiguchi; Rob Willemsen; S K E Koekkoek; Chris I De Zeeuw; Peter Paul De Deyn; Annemie Van der Linden; Vance Lemmon; R Frank Kooy; Patrick J Willems
L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns.
Human molecular genetics 1998;7(6):999-1009.
1998: Erik Fransen; Guy Van Camp; Rudi D'Hooge; Lieve Vits; Patrick J Willems
Genotype-phenotype correlation in L1 associated diseases.
Journal of medical genetics 1998;35(5):399-404.
1998: Kristien Verhoeven; Lut Van Laer; Karin Kirschhofer; P Kevin Legan; David Hughes; Isabelle Schatteman; Margriet Verstreken; Peter Van Hauwe; P Coucke; A Chen; Richard J H Smith; Thomas Somers; F Erwin Offeciers; Paul Van de Heyning; Guy P Richardson; Franz J Wachtler; William J Kimberling; Patrick J Willems; Paul J Govaerts; Guy Van Camp
Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment.
Nature genetics 1998;19(1):60-2.
1998: O Steward; Cathy E Bakker; Patrick J Willems; Ben A Oostra
No evidence for disruption of normal patterns of mRNA localization in dendrites or dendritic transport of recently synthesized mRNA in FMR1 knockout mice, a model for human fragile-X mental retardation syndrome.
Neuroreport 1998;9(3):477-81.
1998: NJ Lench; Alexander F Markham; Robert F Mueller; David P Kelsell; R J Smith; Patrick J Willems; Isabelle Schatteman; H Capon; P J Van De Heyning; Guy Van Camp
A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2).
Journal of medical genetics 1998;35(2):151-2.
1998: Wim Wuyts; Wim Van Hul; K De Boulle; Jan Hendrickx; Egbert Bakker; Filip Vanhoenacker; F Mollica; H J Lüdecke; B S Sayli; U E Pazzaglia; Geert R Mortier; B Hamel; Ernest U Conrad; M Matsushita; Wendy H Raskind; Patrick J Willems
Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.
American journal of human genetics 1998;62(2):346-54.
1998: Wim Van Hul; Wendy Balemans; Els Van Hul; Frederik G Dikkers; Henk Obee; robert stokroos; P Hildering; Filip Vanhoenacker; Guy Van Camp; Patrick J Willems
Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21.
American journal of human genetics 1998;62(2):391-9.
1998: M S Tomek; MR Brown; S R Mani; Arabandi Ramesh; Srikumari Srisailapathy; P Coucke; RI Zbar; Adam M Bell; Wyman T McGuirt; Kunihiro Fukushima; Patrick J Willems; Guy Van Camp; Richard J H Smith
Localization of a gene for otosclerosis to chromosome 15q25-q26.
Human molecular genetics 1998;7(2):285-90.
1998: Wim Van Hul; Wim Wuyts; Jan Hendrickx; Frank Speleman; Jan Wauters; K De Boulle; Nadine Van Roy; PJ Bossuyt; Patrick J Willems
Identification of a third EXT-like gene (EXTL3) belonging to the EXT gene family.
Genomics 1998;47(2):230-7.
1998: R Frank Kooy; Ben A Oostra; Patrick J Willems
The fragile X syndrome and other fragile site disorders.
Results and problems in cell differentiation 1998;21():1-46.
1998: Katrien Storm; I Handig; Edwin Reyniers; Ben A Oostra; R Frank Kooy; Patrick J Willems
Incomplete EcoRI digestion may lead to false diagnosis of fragile X syndrome.
Human genetics 1998;102(1):54-6.
1998: Lieve Vits; D Chitayat; Guy Van Camp; Jeanette J A Holden; Erik Fransen; Patrick J Willems
Evidence for somatic and germline mosaicism in CRASH syndrome.
Human mutation 1998;Suppl 1():S284-7.
1997: Wim Wuyts; Wim Van Hul; Jan Hendrickx; Frank Speleman; Jan Wauters; K De Boulle; Nadine Van Roy; T Van Agtmael; PJ Bossuyt; Patrick J Willems
Identification and characterization of a novel member of the EXT gene family, EXTL2.
European journal of human genetics : EJHG 1997;5(6):382-9.
1997: Wim Van Hul; Jens Bollerslev; Jørgen Gram; Els Van Hul; Wim Wuyts; O Benichou; Filip Vanhoenacker; Patrick J Willems
Localization of a gene for autosomal dominant osteopetrosis (Albers-Schönberg disease) to chromosome 1p21.
American journal of human genetics 1997;61(2):363-9.
1997: Lut Van Laer; Guy Van Camp; Eric Green; Egbert H Huizing; Patrick J Willems
Physical mapping of the HOXA1 gene and the hnRPA2B1 gene in a YAC contig from human chromosome 7p14-p15.
Human genetics 1997;99(6):831-3.
1997: Kristien Verhoeven; Guy Van Camp; Paul J Govaerts; Wendy Balemans; Isabelle Schatteman; Margriet Verstreken; Lut Van Laer; Richard J H Smith; MR Brown; Paul H Van De Heyning; Thomas Somers; F Erwin Offeciers; Patrick J Willems
A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24.
American journal of human genetics 1997;60(5):1168-73.
1997: Guy Van Camp; Paul J Coucke; Henricus P M Kunst; Isabelle Schatteman; D Van Velzen; Henri Marres; M van Ewijk; Frank Declau; Peter Van Hauwe; J Meyers; J Kenyon; Shelley D Smith; Richard J H Smith; Bulantrisna Djelantik; Cor W R J Cremers; Paul H Van De Heyning; Patrick J Willems
Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p.
Genomics 1997;41(1):70-4.
1997: Guy Van Camp; Patrick J Willems; Richard J H Smith
Nonsyndromic hearing impairment: unparalleled heterogeneity.
American journal of human genetics 1997;60(4):758-64.
1997: P Coucke; Guy Van Camp; O Demirhan; Y Kabakkaya; Wendy Balemans; Peter Van Hauwe; T Van Agtmael; Richard J H Smith; A Parving; CH Bolder; Cor W R J Cremers; Patrick J Willems
The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q.
Genomics 1997;40(1):48-54.
1997: Erik Fransen; Guy Van Camp; Lieve Vits; Patrick J Willems
L1-associated diseases: clinical geneticists divide, molecular geneticists unite.
Human molecular genetics 1997;6(10):1625-32.
1997: Rudi D'Hooge; Guy Nagels; Frieda Franck; Cathy E Bakker; Edwin Reyniers; Katrien Storm; R Frank Kooy; Ben A Oostra; Patrick J Willems; Peter Paul De Deyn
Mildly impaired water maze performance in male Fmr1 knockout mice.
Neuroscience 1997;76(2):367-76.
1996: Wim Wuyts; Wim Van Hul; J Wauters; M Nemtsova; Edwin Reyniers; Els Van Hul; K De Boulle; Bert B A de Vries; Jan Hendrickx; I Herrygers; PJ Bossuyt; Wendy Balemans; Erik Fransen; Lieve Vits; P Coucke; N J Nowak; T B Shows; L Mallet; Ans M W van den Ouweland; J McGaughran; D J J Halley; Patrick J Willems
Positional cloning of a gene involved in hereditary multiple exostoses.
Human molecular genetics 1996;5(10):1547-57.
1996: Edwin Reyniers; G Wolff; G Tariverdian; K De Boulle; Katrien Storm; R Frank Kooy; Patrick J Willems
Severe mental retardation and macroorchidism without mutation in the FMR1 gene.
American journal of medical genetics 1996;64(2):408-12.
1996: J M Godfraind; Edwin Reyniers; K De Boulle; Rudi D'Hooge; Peter Paul De Deyn; Cathy E Bakker; Ben A Oostra; R Frank Kooy; Patrick J Willems
Long-term potentiation in the hippocampus of fragile X knockout mice.
American journal of medical genetics 1996;64(2):246-51.
1996: R Frank Kooy; Rudi D'Hooge; Edwin Reyniers; Cathy E Bakker; Guy Nagels; K De Boulle; Katrien Storm; G Clincke; Peter Paul De Deyn; Ben A Oostra; Patrick J Willems
Transgenic mouse model for the fragile X syndrome.
American journal of medical genetics 1996;64(2):241-5.
1996: Erik Fransen; Lieve Vits; Guy Van Camp; Patrick J Willems
The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule.
American journal of medical genetics 1996;64(1):73-7.
1996: F Tamanini; N Meijer; C Verheij; Patrick J Willems; H Galjaard; Ben A Oostra; André Hoogeveen
FMRP is associated to the ribosomes via RNA.
Human molecular genetics 1996;5(6):809-13.
1996: J Beuten; James S Sutcliffe; B M Casey; Arthur L Beaudet; Raoul Hennekam; Patrick J Willems
Detection of imprinting mutations in Angelman syndrome using a probe for exon alpha of SNRPN.
American journal of medical genetics 1996;63(2):414-5.
1996: Jan Hendrickx; E Dams; P Coucke; P Lee; J Fernandes; Patrick J Willems
X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase.
Human molecular genetics 1996;5(5):649-52.
1996: Jan Hendrickx; Patrick J Willems
Genetic deficiencies of the glycogen phosphorylase system.
Human genetics 1996;97(5):551-6.
1996: Oliver Bartsch; Wim Wuyts; Wim Van Hul; Jacqueline T Hecht; P Meinecke; D Hogue; W Werner; B Zabel; Georg Klaus Hinkel; CM Powell; L G Shaffer; Patrick J Willems
Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11.
American journal of human genetics 1996;58(4):734-42.
1996: J Beuten; Raoul Hennekam; B Van Roy; Kathelijne Mangelschots; James S Sutcliffe; D J J Halley; F A Hennekam; Arthur L Beaudet; Patrick J Willems
Angelman syndrome in an inbred family.
Human genetics 1996;97(3):294-8.
1996: Guy Van Camp; Erik Fransen; Lieve Vits; G Raes; Patrick J Willems
A locus-specific mutation database for the neural cell adhesion molecule L1CAM (Xq28)
Human mutation 1996;8(4):391.
1996: Wim Van Hul; G Hong; J Wauters; Els Van Hul; N Nowak; T B Shows; Patrick J Willems; Joseph Merregaert
Assignment of the human integral transmembrane protein 1 gene (ITM1) to human chromosome band 11q23.3 by in situ hybridization and YAC mapping.
Cytogenetics and cell genetics 1996;74(3):218-9.
1996: Edwin Reyniers; D R Van Bockstaele; K De Boulle; R Frank Kooy; Cathy E Bakker; Ben A Oostra; Patrick J Willems
Mean corpuscular hemoglobin is not increased in Fmr1 knockout mice.
Human genetics 1996;97(1):49-50.
1995: Guy Van Camp; P Coucke; Frank Speleman; Nadine Van Roy; E C Beyer; Ben A Oostra; Patrick J Willems
The gene for human gap junction protein connexin37 (GJA4) maps to chromosome 1p35.1, in the vicinity of D1S195.
Genomics 1995;30(2):402-3.
1995: Ben A Oostra; Patrick J Willems
A fragile gene.
BioEssays : news and reviews in molecular, cellular and developmental biology 1995;17(11):941-7.
1995: Edwin Reyniers; M N Van Thienen; Françoise Meire; K De Boulle; K Devries; P Kestelijn; Patrick J Willems
Gene conversion between red and defective green opsin gene in blue cone monochromacy.
Genomics 1995;29(2):323-8.
1995: C Verheij; Esther de Graaff; Cathy E Bakker; Rob Willemsen; Patrick J Willems; N Meijer; H Galjaard; Arnold J J Reuser; Ben A Oostra; André Hoogeveen
Characterization of FMR1 proteins isolated from different tissues.
Human molecular genetics 1995;4(5):895-901.
1995: E Dams; E J Van de Kelft; J J Martin; Jan Verlooy; Patrick J Willems
Instability of microsatellites in human gliomas.
Cancer research 1995;55(7):1547-9.
1995: Erik Fransen; Vance Lemmon; Guy Van Camp; Lieve Vits; P Coucke; Patrick J Willems
CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1.
European journal of human genetics : EJHG 1995;3(5):273-84.
1995: Jan Hendrickx; P Coucke; E Dams; P Lee; M Odièvre; L Corbeel; J F Fernandes; Patrick J Willems
Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease.
Human molecular genetics 1995;4(1):77-83.
1995: Esther de Graaff; P Rouillard; Patrick J Willems; Arie P T Smits; Francois Rousseau; Ben A Oostra
Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients.
Human molecular genetics 1995;4(1):45-9.
1994: Erik Fransen; C Schrander-Stumpel; Lieve Vits; P Coucke; Guy Van Camp; Patrick J Willems
X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene.
Human molecular genetics 1994;3(12):2255-6.
1994: Lieve Vits; K De Boulle; Edwin Reyniers; I Handig; J K Darby; Ben A Oostra; Patrick J Willems
Apparent regression of the CGG repeat in FMR1 to an allele of normal size.
Human genetics 1994;94(5):523-6.
1994: H C Seo; M Yang; R Tonlorenzi; Patrick J Willems; A H Kim; M Filocamo; R Gatti; Richard A DiCioccio; John S O'Brien
A missense mutation (S63L) in alpha-L-fucosidase is responsible for fucosidosis in an Italian patient.
Human molecular genetics 1994;3(11):2065-6.
1994: P Coucke; Lieve Vits; Guy Van Camp; F Serville; Stanislas LYONNET; S Kenwrick; A Rosenthal; Manfred Wehnert; A Munnich; Patrick J Willems
Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family.
Human molecular genetics 1994;3(4):671-3.
1994: Y Q Wu; Peter Heutink; Bert B A de Vries; Lodewijk A Sandkuijl; Ans M W van den Ouweland; Martinus F Niermeijer; H Galjaard; Edwin Reyniers; Patrick J Willems; D J J Halley
Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11.
Human molecular genetics 1994;3(1):167-71.
1994: H C Seo; J Kunze; Patrick J Willems; A H Kim; F Hanefeld; John S O'Brien
A single-base deletion mutation in a Turkish patient with fucosidosis.
Human mutation 1994;3(4):407-8.
1993: Edwin Reyniers; K De Boulle; D A Marchuk; L B Andersen; Francis S Collins; Patrick J Willems
An EcoRI RFLP in the 5' region of the human NF1 gene.
Human genetics 1993;92(6):631.
1993: S Buyle; Edwin Reyniers; Lieve Vits; K De Boulle; I Handig; Floris L Wuyts; Wout Deelen; D J J Halley; Ben A Oostra; Patrick J Willems
Founder effect in a Belgian-Dutch fragile X population.
Human genetics 1993;92(3):269-72.
1993: Guy Van Camp; Lieve Vits; P Coucke; S Lyonnet; C Schrander-Stumpel; J Darby; J Holden; A Munnich; Patrick J Willems
A duplication in the L1CAM gene associated with X-linked hydrocephalus.
Nature genetics 1993;4(4):421-5.
1993: A J Verkerk; Esther de Graaff; K De Boulle; Evan E Eichler; D S Konecki; Edwin Reyniers; A Manca; Annemarie Poustka; Patrick J Willems; D L Nelson
Alternative splicing in the fragile X gene FMR1.
Human molecular genetics 1993;2(8):1348.
1993: H C Seo; Patrick J Willems; John S O'Brien
Six additional mutations in fucosidosis: three nonsense mutations and three frameshift mutations.
Human molecular genetics 1993;2(8):1205-8.
1993: Patrick J Willems; Cecile G Colpaert; M Vaerenbergh; M N Van Thienen; P M Parizel; Eric Van Marck; W H Schuerwegh; Jean-Jacques Martin
Multiple pterygium syndrome with body asymmetry.
American journal of medical genetics 1993;47(1):106-11.
1993: H C Seo; Patrick J Willems; K A Kretz; B M Martin; John S O'Brien
Fucosidosis: four new mutations and a new polymorphism.
Human molecular genetics 1993;2(4):423-9.
1993: A J Verkerk; Esther de Graaff; K De Boulle; Evan E Eichler; D S Konecki; Edwin Reyniers; A Manca; Annemarie Poustka; Patrick J Willems; D L Nelson
Alternative splicing in the fragile X gene FMR1.
Human molecular genetics 1993;2(4):399-404.
1993: Patrick J Willems; B C Van Roy; W J Kleijer; M Van der Kraan; Jean-Jacques Martin
Atypical clinical presentation of ataxia telangiectasia.
American journal of medical genetics 1993;45(6):777-82.
1993: F E Marchau; B C Van Roy; P M Parizel; J R Lambert; I De Canck; Jules G Leroy; C M Gevaert; Patrick J Willems; J E Dumon
Tricho-rhino-phalangeal syndrome type I (TRP I) due to an apparently balanced translocation involving 8q24.
American journal of medical genetics 1993;45(4):450-5.
1993: K De Boulle; A J Verkerk; Edwin Reyniers; Lieve Vits; Jan Hendrickx; B Van Roy; F Van den Bos; Esther de Graaff; Ben A Oostra; Patrick J Willems
A point mutation in the FMR-1 gene associated with fragile X mental retardation.
Nature genetics 1993;3(1):31-5.
1993: Roger Abs; Paul M Parizel; Patrick J Willems; E Van de Kelft; Jan Verlooy; C Mahler; Johan Verhelst; Eric Van Marck; Jean-Jacques Martin
The association of meningioma and pituitary adenoma: report of seven cases and review of the literature.
European neurology 1993;33(6):416-22.
1993: J Beuten; Kathelijne Mangelschots; I Buntinx; P Coucke; Oebele F Brouwer; Raoul Hennekam; Christine Van Broeckhoven; Patrick J Willems
Molecular study of chromosome 15 in 22 patients with Angelman syndrome.
Human genetics 1993;90(5):489-95.
1992: Lieve Vits; Patrick J Willems
BglII RFLP in DXS 498 between the pigment gene repeat unit, RCP and GCP.
Human genetics 1992;90(3):322.
1992: Jan Hendrickx; Lieve Vits; Patrick J Willems
DXS89 (pTAK10) detects a homologous sequence on the Y chromosome.
Genomics 1992;14(2):554-5.
1992: Patrick J Willems; B Van Roy; K De Boulle; Lieve Vits; Edwin Reyniers; O Beck; J E Dumon; A Verkerk; Ben A Oostra
Segregation of the fragile X mutation from an affected male to his normal daughter.
Human molecular genetics 1992;1(7):511-5.
1992: Patrick J Willems; Lieve Vits; Petra Raeymaekers; J Beuten; P Coucke; J J Holden; Christine Van Broeckhoven; Stephen Warren; M Sagi; D Robinson
Further localization of X-linked hydrocephalus in the chromosomal region Xq28.
American journal of human genetics 1992;51(2):307-15.
1992: Patrick J Willems; Lieve Vits
PCR detection of a BclI RFLP in the G6PD gene of Caucasians.
Human genetics 1992;89(5):579.
1992: J G Wauters; K L Stuer; A Van Elsen; Patrick J Willems
alpha-L-fucosidase in human fibroblasts. I. The enzyme activity polymorphism.
Biochemical genetics 1992;30(3-4):131-41.
1992: Roger Abs; M Van Vyve; Patrick J Willems; I Neetens; B Van der Auwera; E Van den Ende; E Van de Kelft; Albert Beckers; Eric Van Marck; Jean-Jacques Martin
The association of astrocytoma and pituitary adenoma in a patient with alcaptonuria.
Journal of the neurological sciences 1992;108(1):32-4.
1992: J G Wauters; PJ Bossuyt; J Davidson; Jan Hendrickx; M W Kilimann; Patrick J Willems
Regional mapping of a liver alpha-subunit gene of phosphorylase kinase (PHKA) to the distal region of human chromosome Xp.
Cytogenetics and cell genetics 1992;60(3-4):194-6.
1991: Patrick J Willems; G H Keersmaekers; K E Dom; Cecile G Colpaert; E Schatteman; I B Vergote; J E Dumon
Fryns syndrome without diaphragmatic hernia?
American journal of medical genetics 1991;41(2):255-7.
1991: Patrick J Willems; Lieve Vits; K De Boulle
MspI RFLP in the L1 CAM gene in Xq28.
Nucleic acids research 1991;19(19):5448.
1991: I M Buntinx; Patrick J Willems; S E Spitaels; P J Van Reempst; Anne De Paepe; J E Dumon
Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency.
Journal of medical genetics 1991;28(4):267-73.
1991: Patrick J Willems; Jan Hendrickx; B J Van der Auwera; Lieve Vits; Petra Raeymaekers; Paul J Coucke; I Van den Bergh; R Berger; G Peter A Smit; Christine Van Broeckhoven
Mapping of the gene for X-linked liver glycogenosis due to phosphorylase kinase deficiency to human chromosome region Xp22.
Genomics 1991;9(4):565-9.
1991: J G Wauters; Jan Hendrickx; P Coucke; Lieve Vits; K Stuer; L van Schil; B J van der Auwera; A Van Elsen; J Dumon; Patrick J Willems
Frequency of the phenylalanine deletion (delta F508) in the CF gene of Belgian cystic fibrosis patients.
Clinical genetics 1991;39(2):89-92.
1991: Patrick J Willems; R Gatti; J K Darby; Giovanni Romeo; P Durand; J E Dumon; John S O'Brien
Fucosidosis revisited: a review of 77 patients.
American journal of medical genetics 1991;38(1):111-31.
1991: P Coucke; Kathelijne Mangelschots; Frank Speleman; PJ Bossuyt; P Van Oostveldt; B Van der Auwera; B Carritt; Patrick J Willems
Assignment of the fucosidase pseudogene FUCA1P to chromosome region 2q31----q32.
Cytogenetics and cell genetics 1991;57(2-3):120-2.
1990: Patrick J Willems; I Dijkstra; B J Van der Auwera; Lieve Vits; P Coucke; Petra Raeymaekers; Christine Van Broeckhoven; G Giacomo Consalez; S B Freeman; Stephen Warren
Assignment of X-linked hydrocephalus to Xq28 by linkage analysis.
Genomics 1990;8(2):367-70.
1990: Patrick J Willems; B Carritt; P Coucke; J K Darby; B J Van der Auwera; John S O'Brien
BclI RFLP in fucosidase pseudogene (FUCA1P).
Nucleic acids research 1990;18(18):5583.
1990: Oebele F Brouwer; I M Buntinx; Patrick J Willems; I Dijkstra
[Angelman's happy puppet syndrome].
Tijdschrift voor kindergeneeskunde 1990;58(3):89-91.
1990: Patrick J Willems; Lieve Vits; R J Wanders; Paul J Coucke; B J Van der Auwera; A F Van Elsen; Petra Raeymaekers; Christine Van Broeckhoven; R B Schutgens; G Dacremont
Linkage of DNA markers at Xq28 to adrenoleukodystrophy and adrenomyeloneuropathy present within the same family.
Archives of neurology 1990;47(6):665-9.
1990: B C Van Roy; Patrick J Willems; Lieve Vits; B P Ceulemans; Paul J Coucke; B J Van der Auwera; J A Lormans; J E Dumon
Two brothers with mental retardation discordant for the fragile-X syndrome.
American journal of medical genetics 1990;36(1):122-5.
1989: K A Kretz; J K Darby; Patrick J Willems; John S O'Brien
Characterization of EcoRI mutation in fucosidosis patients: a stop codon in the open reading frame.
Journal of molecular neuroscience : MN 1989;1(3):177-80.
1988: Patrick J Willems; J K Darby; Richard A DiCioccio; P Nakashima; C Eng; K A Kretz; L L Cavalli-Sforza; E M Shooter; John S O'Brien
Identification of a mutation in the structural alpha-L-fucosidase gene in fucosidosis.
American journal of human genetics 1988;43(5):756-63.
1988: J K Darby; Patrick J Willems; P Nakashima; J Johnsen; R E Ferrell; E M Wijsman; D S Gerhard; N C Dracopoli; D Housman; J Henke
Restriction analysis of the structural alpha-L-fucosidase gene and its linkage to fucosidosis.
American journal of human genetics 1988;43(5):749-55.
1988: M A de Vries-Van der Weerd; Patrick J Willems; H M Mandema; Leo P ten Kate
A new family with the Townes-Brocks syndrome.
Clinical genetics 1988;34(3):195-200.
1988: Patrick J Willems; I Dijkstra; H H Schierbeek; Ruud Berger; G Peter A Smit
Activation of fatty acid oxidation in the Silver-Russell syndrome and the Brachmann-de Lange syndrome.
American journal of medical genetics 1988;30(4):865-73.
1988: Patrick J Willems; C A Garcia; M C De Smedt; R Martin-Jimenez; J K Darby; D A Duenas; D Granado-Villar; John S O'Brien
Intrafamilial variability in fucosidosis.
Clinical genetics 1988;34(1):7-14.
1987: Patrick J Willems; Oebele F Brouwer; I Dijkstra; J Wilmink
X-linked hydrocephalus.
American journal of medical genetics 1987;27(4):921-8.
1987: Patrick J Willems; I Dijkstra; Oebele F Brouwer; G Peter A Smit
Recurrence risk in the Angelman ("happy puppet") syndrome.
American journal of medical genetics 1987;27(4):773-80.
1987: John S O'Brien; Patrick J Willems; H Fukushima; J R de Wet; J K Darby; R Di Cioccio; M L Fowler; TB Shows
Molecular biology of the alpha-L-fucosidase gene and fucosidosis.
Enzyme 1987;38(1-4):45-53.
1986: J K Darby; J Johnsen; P Nakashima; Patrick J Willems; John S O'Brien; M L Fowler; TB Shows; E M Shooter; L L Cavalli-Sforza
Pvu II RFLP at the human chromosome 1 alpha-L-fucosidase gene locus (FUCA1).
Nucleic acids research 1986;14(23):9543.
1983: A F Van Elsen; J G Leroy; J G Wauters; Patrick J Willems; C Buytaert; K Verheyen
In vitro expression of alpha-L-fucosidase activity polymorphism observed in plasma.
Human genetics 1983;64(3):235-9.
1981: Patrick J Willems; E Romeo; W R Den Tandt; A F Van Elsen; J G Leroy
pH-dependent association-dissociation of high and low activity plasma alpha-L-fucosidase.
Human genetics 1981;59(2):115-8.