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D J J Halley

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Marianne Hoogeveen-Westerveld; Nathalie Lannoy; Karin Mayer; Martina Bebin; Peter Davies; Kira Dies; Rosemary Ekong; Frances Elmslie; D J J Halley; Sue Povey; Steven P Sparagana; Catherine Thompson; Ans M W van den Ouweland; Mark Nellist
Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex.
Elly Verbeek; Frans W Verheijen; Marije E C Meuwissen; Renske Oegema; Cathryn J Poulton; Robert Schot; René I F de Coo; Jan C den Hollander; Jeroen Dudink; Douglas B Gould; Paul P Govaert; D J J Halley; Debbie S Kuo; Maarten H Lequin; Daniel J Licht; Grazia M S Mancini
COL4A2 mutation associated with familial porencephaly and small-vessel disease.
Renske Oegema; Robert Schot; Veerle M H Nanninga-van den Neste; M C Y de Wit; Marianne E Doornbos; D J J Halley; Maarten H Lequin; anneke maat-kievit; Grazia M S Mancini
Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX.

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All Publications

2013: Marianne Hoogeveen-Westerveld; Nathalie Lannoy; Karin Mayer; Martina Bebin; Peter Davies; Kira Dies; Rosemary Ekong; Frances Elmslie; D J J Halley; Sue Povey; Steven P Sparagana; Catherine Thompson; Ans M W van den Ouweland; Mark Nellist
Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex.
Human mutation 2013;34(1):167-75.
2012: Elly Verbeek; Frans W Verheijen; Marije E C Meuwissen; Renske Oegema; Cathryn J Poulton; Robert Schot; René I F de Coo; Jan C den Hollander; Jeroen Dudink; Douglas B Gould; Paul P Govaert; D J J Halley; Debbie S Kuo; Maarten H Lequin; Daniel J Licht; Grazia M S Mancini
COL4A2 mutation associated with familial porencephaly and small-vessel disease.
European journal of human genetics : EJHG 2012;20(8):844-51.
2012: Renske Oegema; Robert Schot; Veerle M H Nanninga-van den Neste; M C Y de Wit; Marianne E Doornbos; D J J Halley; Maarten H Lequin; anneke maat-kievit; Grazia M S Mancini
Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX.
American journal of medical genetics. Part A 2012;158A(6):1472-6.
2012: M Wentink; G Woods; B Zonnenberg; A Brooks; W Brussel; P Cohn-Hokke; D J J Halley; Marianne Hoogeveen-Westerveld; Mark Nellist; S-M Park; E Smeets; Ans M W van den Ouweland; D van der Kolk; T van Essen; anneke maat-kievit
Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds.
Clinical genetics 2012;81(5):453-61.
2012: Marianne Hoogeveen-Westerveld; Izabela Karbassi; Karin Mayer; Cora Aalfs; Sat Dev Batish; Peter Davies; Johan T den Dunnen; Kira Dies; Rosemary Ekong; D J J Halley; Sue Povey; Steven P Sparagana; Elizabeth Thiele; Catherine Thompson; Ans M W van den Ouweland; Agnies van Eeghen; Li Wen; Mark Nellist
Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex.
Human mutation 2012;33(3):476-9.
2012: Marianne Hoogeveen-Westerveld; D J J Halley; Andre Hoogeveen; Ans M W van den Ouweland; Leontine van Unen; Mark Nellist
The TSC1-TSC2 complex consists of multiple TSC1 and TSC2 subunits.
BMC biochemistry 2012;13():18.
2011: Marianne Hoogeveen-Westerveld; Marjolein Wentink; Diana van den Heuvel; Melika Mozaffari; Rosemary Ekong; Sue Povey; Johan T den Dunnen; Kay Metcalfe; Stephanie Vallee; Stefan Krueger; JoAnn Bergoffen; Vandana Shashi; Frances Elmslie; David Kwiatkowski; Julian Sampson; Concha Vidales; Jacinta Dzarir; Javier Garcia-Planells; Kira Dies; anneke maat-kievit; Ans M W van den Ouweland; D J J Halley; Mark Nellist
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.
Human mutation 2011;32(4):424-35.
2011: Ans M W van den Ouweland; Peter Elfferich; Bernard A Zonnenberg; Willem F Arts; Tjitske Kleefstra; Mark D Nellist; Jose M Millan; Caroline Withagen-Hermans; Anneke J A Maat-Kievit; D J J Halley
Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients.
European journal of human genetics : EJHG 2011;19(2):157-63.
2011: M C Y de Wit; I F M de Coo; Maarten H Lequin; D J J Halley; Jolien Roos-Hesselink; Grazia M S Mancini
Combined cardiological and neurological abnormalities due to filamin A gene mutation.
Clinical research in cardiology : official journal of the German Cardiac Society 2011;100(1):45-50.
2010: Marianne Hoogeveen-Westerveld; Carla Exalto; anneke maat-kievit; Ans M W van den Ouweland; D J J Halley; Mark Nellist
Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction.
Biochimica et biophysica acta 2010;1802(9):774-81.
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: M C Y de Wit; I F M de Coo; D J J Halley; Maarten H Lequin; Grazia M S Mancini
Movement disorder and neuronal migration disorder due to ARFGEF2 mutation.
Neurogenetics 2009;10(4):333-6.
2009: M C Y de Wit; J M Kros; D J J Halley; I F M de Coo; R Verdijk; Bart C Jacobs; G M S Mancini
Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects.
Journal of neurology, neurosurgery, and psychiatry 2009;80(4):426-8.
2009: Ricardo Coevoets; Sermin Arican; Marianne Hoogeveen-Westerveld; Erik Simons; Ans M W van den Ouweland; D J J Halley; Mark Nellist
A reliable cell-based assay for testing unclassified TSC2 gene variants.
European journal of human genetics : EJHG 2009;17(3):301-10.
2009: Mark Nellist; Diana van den Heuvel; Diane Schluep; Carla Exalto; Miriam A Goedbloed; anneke maat-kievit; Ton van Essen; Karin van Spaendonck-Zwarts; Floor Jansen; Paula Helderman; Gabriella Bartalini; Outi Vierimaa; Maila Penttinen; Jenneke van den Ende; Ans M W van den Ouweland; D J J Halley
Missense mutations to the TSC1 gene cause tuberous sclerosis complex.
European journal of human genetics : EJHG 2009;17(3):319-28.
2009: Melika Mozaffari; Marianne Hoogeveen-Westerveld; David Kwiatkowski; Julian Sampson; Rosemary Ekong; Sue Povey; Johan T den Dunnen; Ans M W van den Ouweland; D J J Halley; Mark Nellist
Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex.
BMC medical genetics 2009;10():88.
2008: Dewkoemar Ramsoekh; Anja Wagner; Monique E van Leerdam; Winand N M Dinjens; Ewout W Steyerberg; D J J Halley; Ernst J Kuipers; Dennis Dooijes
A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting.
Gut 2008;57(11):1539-44.
2008: Malgorzata Srebniak; Petra Noomen; Pedro dos Santos; D J J Halley; Raoul van de Graaf; L C P Govaerts; Cokkie H Wouters; R J H Galjaard; Diane Van Opstal
An incomplete trisomy 3 rescue resulting in a marker chromosome and UPD(3)--difficulties in interpretation.
Prenatal diagnosis 2008;28(10):967-70.
2008: Marian A Kroos; Reinier A Mullaart; Laura Van Vliet; Robert J Pomponio; Hernan Amartino; Edwin H Kolodny; Gregory M Pastores; Ron A Wevers; Ans T Van Der Ploeg; D J J Halley; Arnold J J Reuser
p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?
European journal of human genetics : EJHG 2008;16(8):875-9.
2008: Marian A Kroos; Robert J Pomponio; Laura van Vliet; Rachel E Palmer; Michael Phipps; Robert Van der Helm; D J J Halley; Arnold J J Reuser
Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.
Human mutation 2008;29(6):E13-26.
2008: Floor E Jansen; O Braams; K L Vincken; Ale Algra; P Anbeek; A Jennekens-Schinkel; D J J Halley; B A Zonnenberg; A van den Ouweland; Alexander C van Huffelen; Onno Van Nieuwenhuizen; Mark Nellist
Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations.
Neurology 2008;70(12):908-15.
2008: Floor E Jansen; K L Vincken; Ale Algra; P Anbeek; O Braams; Mark Nellist; B A Zonnenberg; A Jennekens-Schinkel; A van den Ouweland; D J J Halley; Alexander C van Huffelen; Onno Van Nieuwenhuizen
Cognitive impairment in tuberous sclerosis complex is a multifactorial condition.
Neurology 2008;70(12):916-23.
2008: Mark Nellist; Ozgur Sancak; Miriam A Goedbloed; Alwin Adriaans; Marja Wessels; anneke maat-kievit; Marieke Baars; Charlotte Dommering; Ans M W van den Ouweland; D J J Halley
Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex.
BMC medical genetics 2008;9():10.
2007: Frederik J Hes; Rob B van der Luijt; A L W Janssen; Richard Zewald; G J de Jong; J W Lenders; T P Links; G P M Luyten; Rolf Sijmons; H J Eussen; D J J Halley; Cornelis J M Lips; Peter L Pearson; Ans M W van den Ouweland; D F Majoor-Krakauer
Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification.
Clinical genetics 2007;72(2):122-9.
2007: Marian A Kroos; Robert J Pomponio; M L C Hagemans; J L M Keulemans; M Phipps; M DeRiso; R E Palmer; Margreet G E M Ausems; N A M E Van der Beek; Otto P van Diggelen; D J J Halley; Ans T Van Der Ploeg; Arnold J J Reuser
Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.
Neurology 2007;68(2):110-5.
2006: An C Jansen; Ozgur Sancak; Maria Daniela D'Agostino; AmanPreet Badhwar; Penelope Roberts; Gabriella Gobbi; Ralph Wilkinson; Denis Melanson; Donatella Tampieri; Robert K Koenekoop; Mark Gans; anneke maat-kievit; Miriam A Goedbloed; Ans M W van den Ouweland; Mark Nellist; Massimo Pandolfo; Mary McQueen; Katherine Sims; Elizabeth A Thiele; François Dubeau; Frederick Andermann; David J Kwiatkowski; D J J Halley; Eva Andermann
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.
Annals of neurology 2006;60(5):528-39.
2006: Ignacio Pascual-Castroviejo; Samuel Ignacio Pascual-Pascual; R Velazquez; Ans M W van den Ouweland; D J J Halley
[Tuberous sclerosis complex type 1 (TSC1): diagnostic significance of the cutaneous mini-lesions in a familial presentation].
Neurología (Barcelona, Spain) 2006;21(7):386-8.
2006: Marian A Kroos; P Manta; I Mavridou; F Muntoni; D J J Halley; R Van der Helm; D Zaifeiriou; Ans T Van Der Ploeg; Arnold J J Reuser; Helen Michelakakis
Seven cases of Pompe disease from Greece.
Journal of inherited metabolic disease 2006;29(4):556-63.
2006: Annemarie H Van Der Hout; Ans M W van den Ouweland; Rob B van der Luijt; Hans J P Gille; Daniëlle Bodmer; Hennie T Brüggenwirth; Inge M Mulder; Pieter van der Vlies; Peter Elfferich; Maarten Huisman; Annelies M ten Berge; Joan Kromosoeto; Rumo P M Jansen; Patrick H A van Zon; Thyrsa Vriesman; Neeltje J W Arts; Majella Boutmy-de Lange; Jan C Oosterwijk; Hanne Meijers-Heijboer; Margreet G E M Ausems; Nicoline Hoogerbrugge; Senno Verhoef; D J J Halley; Yvonne J Vos; Frans B L Hogervorst; M J L Ligtenberg; Robert M W Hofstra
A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.
Human mutation 2006;27(7):654-66.
2006: Gerrit-Jan de Haan; Dalila Pinto; Dietbrandt Carton; Adri Bader; Jorine Witte; Edith Peters; Gerard van Erp; Willem Vandereyken; Eduard H J F Boezeman; Martin C Wapenaar; Paul Boon; D J J Halley; Bobby P C Koeleman; Dick Lindhout
A novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 years.
Epilepsia 2006;47(5):851-9.
2005: Mark Nellist; Peter C Burgers; Ans M W van den Ouweland; D J J Halley; Theo M Luider
Phosphorylation and binding partner analysis of the TSC1-TSC2 complex.
Biochemical and biophysical research communications 2005;333(3):818-26.
2005: Dalila Pinto; Gerrit-Jan de Haan; D Carton; Adri Bader; Jorine Witte; E Peters; M Gerard van Erp; W Vandereyken; Eduard H J F Boezeman; P Boon; D J J Halley; Bobby P C Koeleman; Dick Lindhout
Gene symbol: KCNQ2. Disease: Benign neonatal familial convulsion.
Human genetics 2005;117(2-3):300.
2005: Ozgur Sancak; Mark Nellist; Miriam A Goedbloed; Peter Elfferich; Cokkie H Wouters; anneke maat-kievit; Bernard Zonnenberg; Senno Verhoef; D J J Halley; Ans M W van den Ouweland
Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.
European journal of human genetics : EJHG 2005;13(6):731-41.
2005: Mark Nellist; Ozgur Sancak; Miriam A Goedbloed; M van Veghel-Plandsoen; anneke maat-kievit; Dick Lindhout; Bert H J Eussen; Annelies de Klein; D J J Halley; Ans M W van den Ouweland
Large deletion at the TSC1 locus in a family with tuberous sclerosis complex.
Genetic testing 2005;9(3):226-30.
2005: Mark Nellist; Ozgur Sancak; Miriam A Goedbloed; Christan Rohe; Diana van Netten; Karin Mayer; Aimee Tucker-Williams; Ans M W van den Ouweland; D J J Halley
Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex.
European journal of human genetics : EJHG 2005;13(1):59-68.
2004: Margit Ritzka; Frauke Stanke; Silke Jansen; Achim D Gruber; Larissa Pusch; Stefan Woelfl; Henk J Veeze; D J J Halley; Burkhard Tümmler
The CLCA gene locus as a modulator of the gastrointestinal basic defect in cystic fibrosis.
Human genetics 2004;115(6):483-91.
2004: Floor E Jansen; Robbert G E Notenboom; Mark Nellist; Miriam A Goedbloed; D J J Halley; P N E De Graan; Onno Van Nieuwenhuizen
Differential localization of hamartin and tuberin and increased S6 phosphorylation in a tuber.
Neurology 2004;63(7):1293-5.
2004: Gerrit-Jan de Haan; D J J Halley; Jan C Doelman; Huibert H Geesink; Paul B Augustijn; Anke D Jager-Jongkind; Marianne Majoie; Adri J Bader; Lian A W M Leliefeld-Ten Doeschate; Wout Deelen; Ed Bertram; Anna E Lehesjoki; Dick Lindhout
Univerricht-Lundborg disease: underdiagnosed in the Netherlands.
Epilepsia 2004;45(9):1061-3.
2004: Wim J Kleijer; Otto P van Diggelen; D J J Halley; Ans T Van Der Ploeg; Grazia M S Mancini
[From gene to disease; Krabbe disease and galactosylceramidase deficiency].
Nederlands tijdschrift voor geneeskunde 2004;148(17):826-8.
2004: Dalila Pinto; Gerrit-Jan de Haan; Guus A M A J Janssen; Eduard H J F Boezeman; M Gerard van Erp; Birgit Westland; Jorine Witte; Adri Bader; D J J Halley; Dorothée G A Kasteleijn-Nolst Trenité; Dick Lindhout; Bobby P C Koeleman
Evidence for linkage between juvenile myoclonic epilepsy-related idiopathic generalized epilepsy and 6p11-12 in Dutch families.
Epilepsia 2004;45(3):211-7.
2003: Bert B A de Vries; Lies-Anne Severijnen; A Jacobs; R Olmer; D J J Halley; Ben A Oostra; Rob Willemsen
FMRP expression studies in blood and hair roots in a fragile X family with methylation mosaics.
Journal of medical genetics 2003;40(7):535-9.
2003: Mark Nellist; Miriam A Goedbloed; D J J Halley
Regulation of tuberous sclerosis complex (TSC) function by 14-3-3 proteins.
Biochemical Society transactions 2003;31(Pt 3):587-91.
2003: Grazia M S Mancini; Otto P van Diggelen; Wim J Kleijer; M Di Rocco; V Farina; Memnune Yuksel-Apak; Hulya Kayserili; D J J Halley
Studies on the pathogenesis of Costello syndrome.
Journal of medical genetics 2003;40(4):e37.
2002: Mark Nellist; Miriam A Goedbloed; Christa de Winter; Brenda Verhaaf; Anita Jankie; Arnold J J Reuser; Ans M W van den Ouweland; Peter van Der Sluijs; D J J Halley
Identification and characterization of the interaction between tuberin and 14-3-3zeta.
The Journal of biological chemistry 2002;277(42):39417-24.
2002: Han C Dan; Mei Sun; Lin Yang; Richard I Feldman; Xue-Mei Sui; Chien Chen Ou; Mark Nellist; Raymond S Yeung; D J J Halley; Santo V Nicosia; Warren Pledger; Jin Q Cheng
Phosphatidylinositol 3-kinase/Akt pathway regulates tuberous sclerosis tumor suppressor complex by phosphorylation of tuberin.
The Journal of biological chemistry 2002;277(38):35364-70.
2002: Thomas Sander; Christine Windemuth; Herbert Schulz; Kathrin Saar; Elena Gennaro; Amedeo Bianchi; Federico Zara; Christine Bulteau; Anna Kaminska; Dorothée Ville; Cécile Cieuta; Jean-François Prud'homme; Olivier Dulac; Louise Bate; R Mark Gardiner; Gerrit-Jan de Haan; Guus A M A J Janssen; Jorine Witte; D J J Halley; Dick Lindhout; Thomas F Wienker; Dieter Janz
No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 18q21.1.
American journal of medical genetics 2002;114(6):673-8.
2002: Gerrit-Jan de Haan; D J J Halley; Wout Deelen; Dick Lindhout
[From gene to disease; progressive myoclonus epilepsy of Unverricht-Lundborg and mutations in the cystatin B gene].
Nederlands tijdschrift voor geneeskunde 2002;146(18):846-8.
2002: Gert R Dohle; D J J Halley; JO van Hemel; A M W van den Ouwel; M H E C Pieters; R F A Weber; L C P Govaerts
Genetic risk factors in infertile men with severe oligozoospermia and azoospermia.
Human reproduction (Oxford, England) 2002;17(1):13-6.
2001: Annemie L M Boehmer; Albert O Brinkmann; Martinus F Niermeijer; D J J Halley; Stenvert L S Drop
[From gene to disease; androgen receptor gene, androgen insensitivity syndrome, and spinal and bulbar muscle atrophy].
Nederlands tijdschrift voor geneeskunde 2001;145(48):2326-8.
2001: Mark Nellist; Brenda Verhaaf; Miriam A Goedbloed; Arnold J J Reuser; Ans M W van den Ouweland; D J J Halley
TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex.
Human molecular genetics 2001;10(25):2889-98.
2001: Inez Bronsveld; Frauke Mekus; Jan Bijman; Manfred Ballmann; Hugo R de Jonge; Ulrike Laabs; D J J Halley; H Ellemunter; G Mastella; S Thomas; Henk J Veeze; Burkhard Tümmler
Chloride conductance and genetic background modulate the cystic fibrosis phenotype of Delta F508 homozygous twins and siblings.
The Journal of clinical investigation 2001;108(11):1705-15.
2001: Miriam A Goedbloed; Mark Nellist; Brenda Verhaaf; Arnold J J Reuser; Dick Lindhout; Lone Sunde; Senno Verhoef; D J J Halley; Ans M W van den Ouweland
Analysis of TSC2 stop codon variants found in tuberous sclerosis patients.
European journal of human genetics : EJHG 2001;9(11):823-8.
2001: Senno Verhoef; Dick Lindhout; D J J Halley; Ans M W van den Ouweland
[From gene to disease; TSC1 and TSC2 genes and tuberous sclerosis complex].
Nederlands tijdschrift voor geneeskunde 2001;145(40):1928-30.
2000: Angelina Miloloza; Margit Rosner; Mark Nellist; D J J Halley; Gerhard Bernaschek; Markus Hengstschläger
The TSC1 gene product, hamartin, negatively regulates cell proliferation.
Human molecular genetics 2000;9(12):1721-7.
2000: Inez Bronsveld; Frauke Mekus; Jan Bijman; Manfred Ballmann; J Greipel; J Hundrieser; D J J Halley; Ulrike Laabs; R Busche; Hugo R de Jonge; Burkhard Tümmler; Henk J Veeze
Residual chloride secretion in intestinal tissue of deltaF508 homozygous twins and siblings with cystic fibrosis. The European CF Twin and Sibling Study Consortium.
Gastroenterology 2000;119(1):32-40.
2000: Bert H J Eussen; Gabriella Bartalini; L Bakker; P Balestri; C Di Lucca; JO van Hemel; H Dauwerse; Ans M W van den Ouweland; C Ris-Stalpers; Senno Verhoef; D J J Halley; A Fois
An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito.
Journal of medical genetics 2000;37(4):287-91.
1999: Mark Nellist; Marjon van Slegtenhorst; Miriam A Goedbloed; Ans M W van den Ouweland; D J J Halley; Peter van Der Sluijs
Characterization of the cytosolic tuberin-hamartin complex. Tuberin is a cytosolic chaperone for hamartin.
The Journal of biological chemistry 1999;274(50):35647-52.
1999: Annemie L M Boehmer; Albert O Brinkmann; L A Sandkuijl; D J J Halley; Martinus F Niermeijer; A S Andersson; Frank de Jong; Hulya Kayserili; M A de Vroede; Barto J Otten; Catrienus W Rouwé; B B Mendonça; C Rodrigues; H H Bode; Petra E de Ruiter; Henriette A Delemarre-Van De Waal; Stenvert L S Drop
17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations.
The Journal of clinical endocrinology and metabolism 1999;84(12):4713-21.
1999: Cardi van den Berg; L Pijpers; D J J Halley; D V Opstal; Frans J Los
Prenatal detection of trisomy 18 caused by isochromosome 18p and 18q formation.
American journal of medical genetics 1999;86(2):151-5.
1999: Bert B A de Vries; S Mohkamsing; Ans M W van den Ouweland; E Mol; K Gelsema; MA van Rijn; Aad Tibben; D J J Halley; Hugo J Duivenvoorden; Ben A Oostra; Martinus F Niermeijer
Screening for the fragile X syndrome among the mentally retarded: a clinical study. The Collaborative Fragile X Study Group.
Journal of medical genetics 1999;36(6):467-70.
1999: Senno Verhoef; L Bakker; AM Tempelaars; AL Hesseling-Janssen; T Mazurczak; S Jozwiak; A Fois; Gabriella Bartalini; B A Zonnenberg; A J van Essen; Dick Lindhout; D J J Halley; Ans M W van den Ouweland
High rate of mosaicism in tuberous sclerosis complex.
American journal of human genetics 1999;64(6):1632-7.
1999: M J Berends; R Hordijk; Hans Scheffer; Jan C Oosterwijk; D J J Halley; N Sorgedrager
Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype.
American journal of medical genetics 1999;84(1):76-9.
1999: Marjon van Slegtenhorst; Senno Verhoef; AM Tempelaars; L Bakker; Q Wang; Marja W Wessels; R Bakker; Mark Nellist; Dick Lindhout; D J J Halley; Ans M W van den Ouweland
Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation.
Journal of medical genetics 1999;36(4):285-9.
1999: Senno Verhoef; R van Diemen-Steenvoorde; W L Akkersdijk; N M Bax; Y Ariyurek; C J Hermans; Onno Van Nieuwenhuizen; Peter Nikkels; Dick Lindhout; D J J Halley; K Lips; Ans M W van den Ouweland
Malignant pancreatic tumour within the spectrum of tuberous sclerosis complex in childhood.
European journal of pediatrics 1999;158(4):284-7.
1999: Cardi van den Berg; AP Braat; Diane Van Opstal; D J J Halley; Wim J Kleijer; Nicolette S den Hollander; Helen Brandenburg; L Pijpers; Frans J Los
Amniocentesis or chorionic villus sampling in multiple gestations? Experience with 500 cases.
Prenatal diagnosis 1999;19(3):234-44.
1999: Gert R Dohle; Henk J Veeze; S E Overbeek; A M van den Ouweland; D J J Halley; R F A Weber; M F Niermeijer
The complex relationships between cystic fibrosis and congenital bilateral absence of the vas deferens: clinical, electrophysiological and genetic data.
Human reproduction (Oxford, England) 1999;14(2):371-4.
1998: Bert B A de Vries; S Mohkamsing; Ans M W van den Ouweland; D J J Halley; Martinus F Niermeijer; Ben A Oostra; Rob Willemsen
Screening with the FMR1 protein test among mentally retarded males.
Human genetics 1998;103(4):520-2.
1998: Senno Verhoef; C T Schrander-Stumpel; VD Vuzevski; AM Tempelaars; L A Jansen; G A Malfeyt; T L Ceelen; Dick Lindhout; D J J Halley; Ans M W van den Ouweland
Familial cylindromatosis mimicking tuberous sclerosis complex and confirmation of the cylindromatosis locus, CYLD1, in a large family.
Journal of medical genetics 1998;35(10):841-5.
1998: Frans J Los; Diane Van Opstal; Cardi van den Berg; AP Braat; Senno Verhoef; E Wesby-van Swaay; Ans M W van den Ouweland; D J J Halley
Uniparental disomy with and without confined placental mosaicism: a model for trisomic zygote rescue.
Prenatal diagnosis 1998;18(7):659-68.
1998: Bert B A de Vries; D J J Halley; Ben A Oostra; Martinus F Niermeijer
The fragile X syndrome.
Journal of medical genetics 1998;35(7):579-89.
1998: Marjon van Slegtenhorst; Mark Nellist; B Nagelkerken; Jeremy P Cheadle; R Snell; Ans M W van den Ouweland; Arnold J J Reuser; J Sampson; D J J Halley; Peter van Der Sluijs
Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products.
Human molecular genetics 1998;7(6):1053-7.
1998: MH Cnossen; A de Goede-Bolder; K M van den Broek; C M Waasdorp; Arnold P Oranje; Hans Stroink; Huibert J Simonsz; Ans M W van den Ouweland; D J J Halley; Martinus F Niermeijer
A prospective 10 year follow up study of patients with neurofibromatosis type 1.
Archives of disease in childhood 1998;78(5):408-12.
1998: L A E M Laan; D J J Halley; Annemieke Th den Boer; Raoul Hennekam; W O Renier; Oebele F Brouwer
Angelman syndrome without detectable chromosome 15q11-13 anomaly: clinical study of familial and isolated cases.
American journal of medical genetics 1998;76(3):262-8.
1998: Q Wang; Senno Verhoef; AM Tempelaars; P L Bakker; R Vrtel; AL Hesseling-Janssen; Mark Nellist; Arnold P Oranje; Hans Stroink; Dick Lindhout; D J J Halley; Ans M W van den Ouweland
Identification of a large insertion and two novel point mutations (3671del8 and S1221X) in tuberous sclerosis complex (TSC) patients. Mutations in brief no. 119. Online.
Human mutation 1998;11(4):331-2.
1998: Diane Van Opstal; Cardi van den Berg; Wout Deelen; Helen Brandenburg; Titia E Cohen-Overbeek; D J J Halley; Ans M W van den Ouweland; PA in 't Veld; Frans J Los
Prospective prenatal investigations on potential uniparental disomy in cases of confined placental trisomy.
Prenatal diagnosis 1998;18(1):35-44.
1998: Senno Verhoef; R Vrtel; L Bakker; I Stolte-Dijkstra; Mark Nellist; J H Begeer; J Zaremba; S Jozwiak; AM Tempelaars; Dick Lindhout; D J J Halley; Ans M W van den Ouweland
Recurrent mutation 4882delTT in the GAP-related domain of the tuberous sclerosis TSC2 gene.
Human mutation 1998;Suppl 1():S85-7.
1997: Monique Losekoot; E Hoogendoorn; R Olmer; C C Jansen; Jan C Oosterwijk; Ans M W van den Ouweland; D J J Halley; Stephen Warren; Rob Willemsen; Ben A Oostra; Egbert Bakker
Prenatal diagnosis of the fragile X syndrome: loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus.
Journal of medical genetics 1997;34(11):924-6.
1997: MA van Rijn; Bert B A de Vries; Aad Tibben; Ans M W van den Ouweland; D J J Halley; Martinus F Niermeijer
DNA testing for fragile X syndrome: implications for parents and family.
Journal of medical genetics 1997;34(11):907-11.
1997: Cardi van den Berg; S K Ramlakhan; Diane Van Opstal; Helen Brandenburg; D J J Halley; Frans J Los
Prenatal diagnosis of trisomy 9: cytogenetic, fish, and DNA studies.
Prenatal diagnosis 1997;17(10):933-40.
1997: MH Cnossen; E N Stam; L C Cooiman; Huibert J Simonsz; Hans Stroink; Arnold P Oranje; D J J Halley; A de Goede-Bolder; Martinus F Niermeijer; Sabine M P F de Muinck Keizer-Schrama
Endocrinologic disorders and optic pathway gliomas in children with neurofibromatosis type 1.
Pediatrics 1997;100(4):667-70.
1997: Bert B A de Vries; Ans M W van den Ouweland; S Mohkamsing; Hugo J Duivenvoorden; E Mol; K Gelsema; MA van Rijn; D J J Halley; Lodewijk A Sandkuijl; Ben A Oostra; Aad Tibben; Martinus F Niermeijer
Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group.
American journal of human genetics 1997;61(3):660-7.
1997: Gisela M Terwindt; Roel A Ophoff; Dick Lindhout; Joost Haan; D J J Halley; Lodewijk A Sandkuijl; Oebele F Brouwer; Rune R Frants; Michel D Ferrari
Partial cosegregation of familial hemiplegic migraine and a benign familial infantile epileptic syndrome.
Epilepsia 1997;38(8):915-21.
1997: Wim J Kleijer; J L M Keulemans; M van der Kraan; G G Geilen; R M van der Helm; Mohammad A Rafi; Paola Luzi; David A Wenger; D J J Halley; Otto P van Diggelen
Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin.
Journal of inherited metabolic disease 1997;20(4):587-94.
1997: D Humphrey; J Kwiatkowska; Elizabeth Petri Henske; Jonathan L Haines; D J J Halley; Marjon van Slegtenhorst; David J Kwiatkowski
Cloning and evaluation of RALGDS as a candidate for the tuberous sclerosis gene TSC1.
Annals of human genetics 1997;61(Pt 4):299-305.
1997: Bart Janssen; D J J Halley; L Sandkuijl
Linkage analysis under locus heterogeneity: behaviour of the A-test in complex analyses.
Human heredity 1997;47(4):223-33.
1997: Jeroen Nauta; Miriam A Goedbloed; Theo M Luider; André Hoogeveen; Ans M W van den Ouweland; D J J Halley
The Han:SPRD rat is not a genetic model of human autosomal dominant polycystic kidney disease type 1.
Laboratory animals 1997;31(3):241-7.
1997: N Hornigold; Marjon van Slegtenhorst; J Nahmias; Rosemary Ekong; S Rousseaux; C Hermans; D J J Halley; Sue Povey; Jonathan Wolfe
A 1.7-megabase sequence-ready cosmid contig covering the TSC1 candidate region in 9q34.
Genomics 1997;41(3):385-9.
1997: Annemie L M Boehmer; Albert O Brinkmann; Martinus F Niermeijer; L Bakker; D J J Halley; Stenvert L S Drop
Germ-line and somatic mosaicism in the androgen insensitivity syndrome: implications for genetic counseling.
American journal of human genetics 1997;60(4):1003-6.
1997: MH Cnossen; M N van der Est; Martijn H Breuning; CJ van Asperen; E J Breslau-Siderius; Ans T Van Der Ploeg; A de Goede-Bolder; Ans M W van den Ouweland; D J J Halley; Martinus F Niermeijer
Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1?
Human mutation 1997;9(5):458-64.
1996: Bert B A de Vries; C C Jansen; A A Duits; C Verheij; Rob Willemsen; JO van Hemel; Ans M W van den Ouweland; Martinus F Niermeijer; Ben A Oostra; D J J Halley
Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family.
Journal of medical genetics 1996;33(12):1007-10.
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: H G de Vries; MA van der Meulen; R Rozen; D J J Halley; Hans Scheffer; Leo P ten Kate; Charles H C M Buys; Gerard te Meerman
Haplotype identity between individuals who share a CFTR mutation allele "identical by descent": demonstration of the usefulness of the haplotype-sharing concept for gene mapping in real populations.
Human genetics 1996;98(3):304-9.
1996: Bert B A de Vries; A M Wiegers; Arie P T Smits; S Mohkamsing; Hugo J Duivenvoorden; J P Fryns; L M Curfs; D J J Halley; Ben A Oostra; Ans M W van den Ouweland; Martinus F Niermeijer
Mental status of females with an FMR1 gene full mutation.
American journal of human genetics 1996;58(5):1025-32.
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: D J J Halley
Tuberous sclerosis: between genetic and physical analysis.
Acta geneticae medicae et gemellologiae 1996;45(1-2):63-75.
1996: M Milewski; M Zygulska; Jerzy Bal; Wout Deelen; Ewa Obersztyn; Ewa Bocian; D J J Halley; J Horst; Tadeusz Mazurczak
Analysis of unstable DNA sequence in FMR1 gene in Polish families with fragile X syndrome.
Acta biochimica Polonica 1996;43(2):383-8.
1996: R Vrtel; Senno Verhoef; Katelijne Bouman; MM Maheshwar; Mark Nellist; Anthonie J van Essen; P L Bakker; C J Hermans; M T Bink-Boelkens; R M van Elburg; M Hoff; Dick Lindhout; J Sampson; D J J Halley; Ans M W van den Ouweland
Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex.
Journal of medical genetics 1996;33(1):47-51.
1995: Ben A Oostra; D J J Halley
Complex behavior of simple repeats: the fragile X syndrome.
Pediatric research 1995;38(5):629-37.
1995: Bert B A de Vries; H Robinson; I Stolte-Dijkstra; C V Tjon Pian Gi; P F Dijkstra; Jaap van Doorn; D J J Halley; Ben A Oostra; G Turner; Martinus F Niermeijer
General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 gene mutation.
Journal of medical genetics 1995;32(10):764-9.
1995: K H Gan; Henk J Veeze; A M van den Ouweland; D J J Halley; H Scheffer; Annemarie H Van Der Hout; Shelley E Overbeek; Johan C de Jongste; W Bakker; Harry G M Heijerman
A cystic fibrosis mutation associated with mild lung disease.
The New England journal of medicine 1995;333(2):95-9.
1995: Ans M W van den Ouweland; M N van der Est; E Wesby-van Swaay; T S Tijmensen; Frans J Los; JO van Hemel; Raoul Hennekam; H J Meijers-Heijboer; Martinus F Niermeijer; D J J Halley
DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63).
Human genetics 1995;95(5):562-7.
1995: Senno Verhoef; R Vrtel; T van Essen; L Bakker; E Sikkens; D J J Halley; Dick Lindhout; Ans M W van den Ouweland
Somatic mosaicism and clinical variation in tuberous sclerosis complex.
Lancet 1995;345(8943):202.
1994: Ans M W van den Ouweland; Wout Deelen; C B Kunst; M L Uzielli; David L Nelson; Stephen Warren; Ben A Oostra; D J J Halley
Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes.
Human molecular genetics 1994;3(10):1823-7.
1994: C Ris-Stalpers; Theo Hoogenboezem; H F Sleddens; M C Verleun-Mooijman; H J Degenhart; Stenvert L S Drop; D J J Halley; J C Oosterwijk; M B Hodgins; Jan Trapman
A practical approach to the detection of androgen receptor gene mutations and pedigree analysis in families with x-linked androgen insensitivity.
Pediatric research 1994;36(2):227-34.
1994: Wout Deelen; C Bakker; D J J Halley; Ben A Oostra
Conservation of CGG region in FMR1 gene in mammals.
American journal of medical genetics 1994;51(4):513-6.
1994: Ans M W van den Ouweland; Bert B A de Vries; P L Bakker; Wout Deelen; Esther de Graaff; JO van Hemel; Ben A Oostra; Martinus F Niermeijer; D J J Halley
DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene.
American journal of medical genetics 1994;51(4):482-5.
1994: D J J Halley; Ans M W van den Ouweland; Wout Deelen; I Verma; Ben A Oostra
Strategy for reliable prenatal detection of normal male carriers of the fragile X syndrome.
American journal of medical genetics 1994;51(4):471-3.
1994: C J Hermans; Henk J Veeze; V R Drexhage; D J J Halley; Ans M W van den Ouweland
Identification of the L927P and delta L1260 mutations in the CFTR gene.
Human molecular genetics 1994;3(7):1199-200.
1994: L B De Vries; D J J Halley; Ben A Oostra; Martinus F Niermeijer
The fragile-X syndrome: a growing gene causing familial intellectual disability.
Journal of intellectual disability research : JIDR 1994;38 ( Pt 1)():1-8.
1994: Henk J Veeze; D J J Halley; Jan Bijman; Johan C de Jongste; Hugo R de Jonge; Maarten Sinaasappel
Determinants of mild clinical symptoms in cystic fibrosis patients. Residual chloride secretion measured in rectal biopsies in relation to the genotype.
The Journal of clinical investigation 1994;93(2):461-6.
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.
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: Bert B A de Vries; J P Fryns; M G Butler; F Canziani; E Wesby-van Swaay; JO van Hemel; Ben A Oostra; D J J Halley; Martinus F Niermeijer
Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype.
Journal of medical genetics 1993;30(9):761-6.
1993: Bert B A de Vries; A M Wiegers; Esther de Graaff; A J Verkerk; JO van Hemel; D J J Halley; J P Fryns; L M Curfs; Martinus F Niermeijer; Ben A Oostra
Mental status and fragile X expression in relation to FMR-1 gene mutation.
European journal of human genetics : EJHG 1993;1(1):72-9.
1992: L A Janssen; Lodewijk A Sandkuijl; Julian R Sampson; D J J Halley
Computer simulation of linkage and heterogeneity in tuberous sclerosis: a critical evaluation of the collaborative family data.
Journal of medical genetics 1992;29(12):867-74.
1992: P F Koppens; Theo Hoogenboezem; D J J Halley; C A Barendse; A J Oostenbrink; H J Degenhart
Family studies of the steroid 21-hydroxylase and complement C4 genes define 11 haplotypes in classical congenital adrenal hyperplasia in The Netherlands.
European journal of pediatrics 1992;151(12):885-92.
1992: A J Verkerk; B B deVries; Martinus F Niermeijer; Y H Fu; David L Nelson; Stephen Warren; D F Majoor-Krakauer; D J J Halley; Ben A Oostra
Intragenic probe used for diagnostics in fragile X families.
American journal of medical genetics 1992;43(1-2):192-6.
1991: Ben A Oostra; J F de Rijk-van Andel; H J Eussen; JO van Hemel; D J J Halley; Martinus F Niermeijer
DNA analysis in patients with lissencephaly type I and other cortical dysplasias.
American journal of medical genetics 1991;40(3):383-6.
1991: J F De Rijk-van Andel; C E Catsman-Berrevoets; D J J Halley; E Wesby-van Swaay; Martinus F Niermeijer; Ben A Oostra
Isolated lissencephaly sequence associated with a microdeletion at chromosome 17p13.
Human genetics 1991;87(4):509-10.
1991: Jan Bijman; Henk J Veeze; M Kansen; Ben C Tilly; Bob J Scholte; André Hoogeveen; D J J Halley; Maarten Sinaasappel; H de Jonge
Chloride transport in the cystic fibrosis enterocyte.
Advances in experimental medicine and biology 1991;290():287-94; discussion 294-6.
1990: L A Janssen; L A Sandkuyl; E C Merkens; anneke maat-kievit; Julian R Sampson; P Fleury; R C Hennekam; G C Grosveld; Dick Lindhout; D J J Halley
Genetic heterogeneity in tuberous sclerosis.
Genomics 1990;8(2):237-42.
1990: D J J Halley; Henk J Veeze; L A Sandkuyl; E Wesby-van Swaay; N H van Damme; Wout Deelen; J E Witte; Martinus F Niermeijer
The mutation delta F508 on Dutch cystic fibrosis chromosomes: frequency and relation to patients age at diagnosis.
Human genetics 1990;85(4):407-8.
1990: Ben A Oostra; L A Sandkuyl; D J J Halley
Risk calculation of missed prenatal diagnosis of fragile-X syndrome.
Prenatal diagnosis 1990;10(8):545-6.
1990: D J J Halley; J Bijman; Hugo R de Jonge; Maarten Sinaasappel; Herman J Neijens; Martinus F Niermeijer
The cystic fibrosis defect approached from different angles--new perspectives on the gene, the chloride channel, diagnosis and therapy.
European journal of pediatrics 1990;149(10):670-7.
1990: Ben A Oostra; P E Hupkes; L F Perdon; C A van Bennekom; E Bakker; D J J Halley; M Schmidt; D Du Sart; Arie P T Smits; B Wieringa
New polymorphic DNA marker close to the fragile site FRAXA.
Genomics 1990;6(1):129-32.
1989: D J J Halley; N H van Damme; Wout Deelen; Ben A Oostra; M G Jahoda; E S Sachs; Frans J Los; Martinus F Niermeijer
Prenatal detection of major cystic fibrosis mutation.
Lancet 1989;2(8669):972.
1989: D Maciejko; Jerzy Bal; Tadeusz Mazurczak; Gerard te Meerman; C Buys; B Oostra; D J J Halley
Different haplotypes for cystic fibrosis-linked DNA polymorphisms in Polish and Dutch populations.
Human genetics 1989;83(3):220-2.
1989: Martinus F Niermeijer; D J J Halley; Wim J Kleijer; H J Neijens; Maarten Sinaasappel
Prenatal diagnosis and genetic counseling of cystic fibrosis.
Acta paediatrica Scandinavica. Supplement 1989;363():20-4.
1988: Marianne Schwartz; M Super; J Schmidtke; C Buys; M Farrall; D J J Halley; M Krawczak; J E Poncin; DIMITRIS LOUKOPOULOS; M Devoto
Prenatal diagnosis of cystic fibrosis using linked DNA probes.
Prenatal diagnosis 1988;8(8):619-24.
1988: J Morreau; Maarten Sinaasappel; Ben A Oostra; D J J Halley
Cystic fibrosis: screening for a DNA deletion by field inversion gel electrophoresis.
Human genetics 1988;79(1):64-7.
1986: D J J Halley; J Morreau; H J Neijens; E van Swaay; L A Sandkuyl; Ben A Oostra
[Prenatal diagnosis of cystic fibrosis using DNA analysis].
Nederlands tijdschrift voor geneeskunde 1986;130(50):2270-2.
1984: D J J Halley; A Konings; P Hupkes; H Galjaard
Regional mapping of the human gene for lysosomal alpha-glucosidase by in situ hybridization.
Human genetics 1984;67(3):326-8.