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Wim Van Hul

Research Profile

Physiology

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Genes & Molecular Sequences

Single Nucleotide Polymorphism

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Belgium

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TOP 3
Eveline Boudin; Fenna de Freitas; Karen Jennes; Geert Mortier; David Tegay; Wim Van Hul
No mutations in the serotonin related TPH1 and HTR1B genes in patients with monogenic sclerosing bone disorders.
Sanjay Kumar Bhadada; Anil Bhansali; Eveline Boudin; Vandana Dhiman; Ashu Rastogi; Ellen Steenackers; Ashutosh Arya; Wim Van Hul
Novel SOST gene mutation in a sclerosteosis patient and her parents.
Sigri Beckers; Fenna de Freitas; Ilse Mertens; J K Van Camp; Luc F Van Gaal; A Verrijken; D Zegers; Wim Van Hul
No conclusive evidence for association of polymorphisms in the adiponectin receptor 1 gene, AdipoR1, with common obesity.

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2013: Eveline Boudin; Fenna de Freitas; Karen Jennes; Geert Mortier; David Tegay; Wim Van Hul
No mutations in the serotonin related TPH1 and HTR1B genes in patients with monogenic sclerosing bone disorders.
Bone 2013;55(1):52-6.
2013: Sanjay Kumar Bhadada; Anil Bhansali; Eveline Boudin; Vandana Dhiman; Ashu Rastogi; Ellen Steenackers; Ashutosh Arya; Wim Van Hul
Novel SOST gene mutation in a sclerosteosis patient and her parents.
Bone 2013;52(2):707-10.
2013: Sigri Beckers; Fenna de Freitas; Ilse Mertens; J K Van Camp; Luc F Van Gaal; A Verrijken; D Zegers; Wim Van Hul
No conclusive evidence for association of polymorphisms in the adiponectin receptor 1 gene, AdipoR1, with common obesity.
Endocrine 2013;43(1):120-6.
2013: Eveline Boudin; Igor Fijalkowski; Outi Kuismin; Jukka S Moilanen; Geert Mortier; Elke Piters; Ellen Steenackers; Gino Stevenheydens; Wim Van Hul
Mutations in sFRP1 or sFRP4 are not a common cause of craniotubular hyperostosis.
Bone 2013;52(1):292-5.
2013: Jenneke J van den Ende; Vere Borra; Wim Van Hul
Negative mutation screening of the NOG, BMPR1B, GDF5, and FGF9 genes indicates further genetic heterogeneity of the facioaudiosymphalangism syndrome.
Clinical dysmorphology 2013;22(1):1-6.
2012: Doreen Zegers; Sigri Beckers; Fenna de Freitas; Kristine N Desager; Karen Jennes; Guy Massa; Ilse Mertens; Raoul P A Rooman; Jasmijn K Van Camp; Luc F Van Gaal; Kim Van Hoorenbeeck; Wim Van Hul
Identification of mutations in the NUCB2/nesfatin gene in children with severe obesity.
Molecular genetics and metabolism 2012;107(4):729-34.
2012: Eveline Boudin; Kim Brixen; Torben Leo Nielsen; Elke Piters; Greet Roef; Youri Taes; Marianne Andersen; Wim Van Hul
Single nucleotide polymorphisms in sFRP4 are associated with bone and body composition related parameters in Danish but not in Belgian men.
Molecular genetics and metabolism 2012;106(3):366-74.
2012: Pui Yan Jenny Chung; Wim Van Hul
Paget's disease of bone: evidence for complex pathogenetic interactions.
Seminars in arthritis and rheumatism 2012;41(5):619-41.
2012: J K Van Camp; Luc F Van Gaal; A Verrijken; D Zegers; Sigri Beckers; Wim Van Hul
Genetic association between WNT10B polymorphisms and obesity in a Belgian case-control population is restricted to males.
Molecular genetics and metabolism 2012;105(3):489-93.
2012: Eveline Boudin; Kim Brixen; Erik Fransen; Torben Leo Nielsen; Elke Piters; Greet Roef; Youri Taes; Marianne Andersen; Wim Van Hul
Association study of common variants in the sFRP1 gene region and parameters of bone strength and body composition in two independent healthy Caucasian male cohorts.
Molecular genetics and metabolism 2012;105(3):508-15.
2012: John W M Creemers; Paul Elliott; philippe froguel; Fritz Horber; Marjo-Riitta Jarvelin; Sandra M P Meulemans; Beverley Balkau; Sigri Beckers; Hélène Choquet; François Pattou; Marie Pigeyre; Pieter Stijnen; Maithé Tauber; Manuel E Than; Luc Van Gaal; Wim Van Hul; Vincent Vatin; Loïc Yengo; David Meyre
Heterozygous mutations causing partial prohormone convertase 1 deficiency contribute to human obesity.
Diabetes 2012;61(2):383-90.
2012: Doreen Zegers; Luc F Van Gaal; Wim Van Hul; Sigri Beckers
Monogenic and complex forms of obesity: insights from genetics reveal the leptin-melanocortin signaling pathway as a common player.
Critical reviews in eukaryotic gene expression 2012;22(4):325-43.
2011: Alessandra Pangrazio; Elke Piters; Eveline Boudin; Giuseppe Damante; Angela Valentina D'Elia; Wim Van Hul; Paolo Vezzoni; Anna Villa; Nadia Lo Iacono; Cristina Sobacchi
Identification of the first deletion in the LRP5 gene in a patient with autosomal dominant osteopetrosis type I.
Bone 2011;49(3):568-71.
2011: Morten Frost; Fatma Gossiel; Stinus Hansen; Moustapha Kassem; Wim Van Hul; Tom Andersen; Jens Bollerslev; Ana Munoz; Kim Brixen
Levels of serotonin, sclerostin, bone turnover markers as well as bone density and microarchitecture in patients with high-bone-mass phenotype due to a mutation in Lrp5.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2011;26(8):1721-8.
2011: Omar M E Albagha; Nerea Alonso; Maria Luisa Brandi; Pui Yan Jenny Chung; Tim Cundy; Rosemary Dargie; Jean-Pierre Devogelaer; Marco Di Stefano; Alberto Falchetti; William D Fraser; Luigi Gennari; Fernando Gianfrancesco; Rogelio Gonzalez-Sarmiento; Kirsteen Goodman; Michael J Hooper; Gianluca Isaia; Javier del Pino Montes; Geoff C Nicholson; Ranuccio Nuti; Socrates Papapoulos; Stuart H Ralston; Thomas Ratajczak; Sarah L Rea; Domenico Rendina; Wim Van Hul; Micaela R Visconti; John P Walsh; Sachin E Wani; Lynley C Ward
Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.
Nature genetics 2011;43(7):685-9.
2011: Pui Yan Jenny Chung; Fenna de Freitas; Jean-Pierre Devogelaer; Piet Geusens; Stefan Goemaere; Jan F Van Offel; Filip Vanhoenacker; Leon Verbruggen; René Westhovens; Hans-Georg Zmierczak; Greet Beyens; Steven Boonen; Wim Van Hul
Indications for a genetic association of a VCP polymorphism with the pathogenesis of sporadic Paget's disease of bone, but not for TNFSF11 (RANKL) and IL-6 polymorphisms.
Molecular genetics and metabolism 2011;103(3):287-92.
2011: Doreen Zegers; Sigri Beckers; Ilse Mertens; Luc F Van Gaal; Wim Van Hul
Association between polymorphisms of the Nesfatin gene, NUCB2, and obesity in men.
Molecular genetics and metabolism 2011;103(3):282-6.
2011: Olivier Leupin; Elke Piters; Christine Halleux; Shouih Hu; Ina Kramer; Frederic Morvan; Tewis Bouwmeester; Markus Schirle; Manuel Bueno-Lozano; Peter H Itin; Eveline Boudin; Fenna de Freitas; Karen Jennes; Barbara Brannetti; Nadine Charara; Hilmar Ebersbach; Sabine Geisse; Chris X Lu; Andreas Bauer; Wim Van Hul; Feliciano J Ramos Fuentes; Michaela Kneissel
Bone overgrowth-associated mutations in the LRP4 gene impair sclerostin facilitator function.
The Journal of biological chemistry 2011;286(22):19489-500.
2011: Sigri Beckers; Fenna de Freitas; Doreen Zegers; An Verrijken; Armand V Peeters; Frida Peiffer; Stijn L Verhulst; Guy Massa; Ilse Mertens; Kristine N Desager; Luc F Van Gaal; Wim Van Hul
Identification and functional characterization of a missense mutation in resistin in two patients with severe obesity and insulin resistance.
European journal of endocrinology / European Federation of Endocrine Societies 2011;164(6):927-36.
2011: Wim Van Hul
Identification of genetic modifiers of monogenic (bone) diseases: new tools available, but with limitations.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2011;26(5):918-9.
2011: Sigri Beckers; Doreen Zegers; Fenna de Freitas; Ilse Mertens; Luc F Van Gaal; Wim Van Hul
Association study of MC4R with complex obesity and replication of the rs17782313 association signal.
Molecular genetics and metabolism 2011;103(1):71-5.
2011: Sigri Beckers; Luc F Van Gaal; Doreen Zegers; Wim Van Hul
Replication of the SH2B1 rs7498665 association with obesity in a Belgian study population.
Obesity facts 2011;4(6):473-7.
2011: Doreen Zegers; Sigri Beckers; Fenna de Freitas; Armand V Peeters; Ilse Mertens; Stijn L Verhulst; Raoul P A Rooman; Jean-Pierre Timmermans; Kristine N Desager; Guy Massa; Luc F Van Gaal; Wim Van Hul
Identification of three novel genetic variants in the melanocortin-3 receptor of obese children.
Obesity (Silver Spring, Md.) 2011;19(1):152-9.
2010: Armand V Peeters; Sigri Beckers; An Verrijken; Peter Roevens; Pieter J Peeters; Luc F Van Gaal; Wim Van Hul
Common variants in the gene for the serotonin receptor 6 (HTR6) do not contribute to obesity.
Journal of genetics 2010;89(4):469-72.
2010: Pui Yan Jenny Chung; Greet Beyens; Steven Boonen; Socrates Papapoulos; Piet Geusens; Marcel Karperien; Filip Vanhoenacker; Leon Verbruggen; Erik Fransen; Jan F Van Offel; Stefan Goemaere; Hans-Georg Zmierczak; René Westhovens; Jean-Pierre Devogelaer; Wim Van Hul
The majority of the genetic risk for Paget's disease of bone is explained by genetic variants close to the CSF1, OPTN, TM7SF4, and TNFRSF11A genes.
Human genetics 2010;128(6):615-26.
2010: Pui Yan Jenny Chung; Greet Beyens; Philip L Riches; Liesbeth Van Wesenbeeck; Fenna de Freitas; Karen Jennes; Anna Daroszewska; Erik Fransen; Steven Boonen; Piet Geusens; Filip Vanhoenacker; Leon Verbruggen; Jan F Van Offel; Stefan Goemaere; Hans Zmierczak; René Westhovens; Marcel Karperien; Socrates Papapoulos; Stuart H Ralston; Jean-Pierre Devogelaer; Wim Van Hul
Genetic variation in the TNFRSF11A gene encoding RANK is associated with susceptibility to Paget's disease of bone.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2010;25(12):2592-605.
2010: Mafalda Barbosa; Filipe Macedo; Bram Perdu; Margarida Reis-Lima; Virgílio Senra; Wim Van Hul; Jorge Pinto-Basto
[Osteopathia striata with cranial sclerosis].
Acta médica portuguesa 2010;23(6):1147-50.
2010: Sigri Beckers; Doreen Zegers; Fenna de Freitas; Armand V Peeters; Stijn L Verhulst; Guy Massa; Luc F Van Gaal; Jean-Pierre Timmermans; Kristine N Desager; Wim Van Hul
Identification and functional characterization of novel mutations in the melanocortin-4 receptor.
Obesity facts 2010;3(5):304-11.
2010: Doreen Zegers; Sigri Beckers; Ilse Mertens; Luc F Van Gaal; Wim Van Hul
Common melanocortin-3 receptor variants are not associated with obesity, although rs3746619 does influence weight in obese individuals.
Endocrine 2010;38(2):289-93.
2010: Morten Frost; Torben Leo Nielsen; Kristian Wraae; Claus Hagen; E Piters; Sigri Beckers; F De Freitas; Kim Brixen; Wim Van Hul; Morten Andersen
Polymorphisms in the endocannabinoid receptor 1 in relation to fat mass distribution.
European journal of endocrinology / European Federation of Endocrine Societies 2010;163(3):407-12.
2010: Elke Piters; Cavit Culha; Martiene Moester; Rutger L van Bezooijen; Dirk Adriaensen; Thomas Mueller; Stella Weidauer; Karen Jennes; Fenna de Freitas; Clemens Löwik; Jean-Pierre Timmermans; Wim Van Hul; Socrates Papapoulos
First missense mutation in the SOST gene causing sclerosteosis by loss of sclerostin function.
Human mutation 2010;31(7):E1526-43.
2010: Elke Piters; Wendy Balemans; Torben Leo Nielsen; Marianne Andersen; Eveline Boudin; Kim Brixen; Wim Van Hul
Common genetic variation in the DKK1 gene is associated with hip axis length but not with bone mineral density and bone turnover markers in young adult men: results from the Odense Androgen Study.
Calcified tissue international 2010;86(4):271-81.
2010: Eliane Chouery; Alessandra Pangrazio; Annalisa Frattini; Anna Villa; Liesbeth Van Wesenbeeck; Elke Piters; Wim Van Hul; Fraser Coxon; Tabitha Schouten; Miep H Helfrich; Gérard Lefranc; André Mégarbané
A new familial sclerosing bone dysplasia.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2010;25(3):676-80.
2010: Bram Perdu; Wim Van Hul
Sclerosing bone disorders: too much of a good thing.
Critical reviews in eukaryotic gene expression 2010;20(3):195-212.
2010: David Meyre; Karine Proulx; Hiroko Kawagoe-Takaki; Vincent Vatin; Ruth Gutiérrez-Aguilar; Debbie Lyon; Marcella Ma; Hélène Choquet; Fritz F Horber; Wim Van Hul; Luc Van Gaal; Beverley Balkau; Sophie Visvikis-Siest; François Pattou; I Sadaf Farooqi; Vladimir Saudek; Stephen O'Rahilly; philippe froguel; Barbara Sedgwick; Giles S H Yeo
Prevalence of loss-of-function FTO mutations in lean and obese individuals.
Diabetes 2010;59(1):311-8.
2009: Sigri Beckers; Armand V Peeters; Fenna de Freitas; Ilse Mertens; Stijn L Verhulst; Dominique Haentjens; Kristine N Desager; Luc F Van Gaal; Wim Van Hul
Association study and mutation analysis of adiponectin shows association of variants in APM1 with complex obesity in women.
Annals of human genetics 2009;73(Pt 5):492-501.
2009: Armand Peeters; Sigri Beckers; An Verrijken; Ilse Mertens; Luc Van Gaal; Wim Van Hul
Possible role for ENPP1 polymorphism in obesity but not for INSIG2 and PLIN variants.
Endocrine 2009;36(1):103-9.
2009: Yi Tang; Xiangwei Wu; Weiqi Lei; Lijuan Pang; Chao Wan; Zhenqi Shi; Ling Zhao; Tim Nagy; Xinyu Peng; Junbo Hu; Xu Feng; Wim Van Hul; Mei Wan; Xu Cao
TGF-beta1-induced migration of bone mesenchymal stem cells couples bone resorption with formation.
Nature medicine 2009;15(7):757-65.
2009: B Perdu; P R Odgren; Liesbeth Van Wesenbeeck; K Jennes; C C Mackay; Wim Van Hul
Refined genomic localization of the genetic lesion in the osteopetrosis (op) rat and exclusion of three positional and functional candidate genes, Clcn7, Atp6v0c, and Slc9a3r2.
Calcified tissue international 2009;84(5):355-60.
2009: Sigri Beckers; Doreen Zegers; Luc F Van Gaal; Wim Van Hul
The role of the leptin-melanocortin signalling pathway in the control of food intake.
Critical reviews in eukaryotic gene expression 2009;19(4):267-87.
2008: Chong Ae Kim; Rachel Honjo; Débora Bertola; Lílian Albano; Luiz Oliveira; Sumatra Jales; José Siqueira; Arthur Castilho; Wendy Balemans; Elke Piters; Karen Jennes; Wim Van Hul
A known SOST gene mutation causes sclerosteosis in a familial and an isolated case from Brazilian origin.
Genetic testing 2008;12(4):475-9.
2008: Martin Druce Batstone; Gary Walton; Anthony Lynham; Frank Monsour; Wendy Balemans; Wim Van Hul
Recurrent sclerosing dysplasia of bone: report of a case.
Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons 2008;66(11):2372-4.
2008: Armand V Peeters; Sigri Beckers; An Verrijken; Ilse Mertens; Peter Roevens; Pieter J Peeters; Wim Van Hul; Luc F Van Gaal
Association of SIRT1 gene variation with visceral obesity.
Human genetics 2008;124(4):431-6.
2008: Sigri Beckers; Armand Peeters; Doreen Zegers; Ilse Mertens; Luc Van Gaal; Wim Van Hul
Association of the BDNF Val66Met variation with obesity in women.
Molecular genetics and metabolism 2008;95(1-2):110-2.
2008: José M López; Wendy Balemans; Elke Piters; Wim Van Hul; Gilberto González
Genetic analysis and effect of triiodothyronine and prednisone trial on bone turnover in a patient with craniotubular hyperostosis.
Bone 2008;43(2):405-9.
2008: Pui Yan Jenny Chung; Greet Beyens; Núria Guañabens; Steven Boonen; Socrates E Papapoulos; Marcel Karperien; Marelise Eekhoff; Liesbeth Van Wesenbeeck; Karen Jennes; Piet Geusens; Erwin Offeciers; Jan Van Offel; René Westhovens; Hans Zmierczak; Jean-Pierre Devogelaer; Wim Van Hul
Founder effect in different European countries for the recurrent P392L SQSTM1 mutation in Paget's Disease of Bone.
Calcified tissue international 2008;83(1):34-42.
2008: Wendy Balemans; Elke Piters; Erna Cleiren; Minrong Ai; Liesbeth Van Wesenbeeck; Matthew L Warman; Wim Van Hul
The binding between sclerostin and LRP5 is altered by DKK1 and by high-bone mass LRP5 mutations.
Calcified tissue international 2008;82(6):445-53.
2008: Elke Piters; Eveline Boudin; Wim Van Hul
Wnt signaling: a win for bone.
Archives of biochemistry and biophysics 2008;473(2):112-6.
2008: Sigri Beckers; Armand V Peeters; Fenna de Freitas; Ilse Mertens; Jan-Jaap Hendrickx; Luc F Van Gaal; Wim Van Hul
Analysis of genetic variations in the resistin gene shows no associations with obesity in women.
Obesity (Silver Spring, Md.) 2008;16(4):905-7.
2008: Armand Peeters; Sigri Beckers; An Verrijken; Peter Roevens; Pieter Peeters; Luc Van Gaal; Wim Van Hul
Variants in the FTO gene are associated with common obesity in the Belgian population.
Molecular genetics and metabolism 2008;93(4):481-4.
2008: Andrea Del Fattore; Rachele Fornari; Liesbeth Van Wesenbeeck; Fenna de Freitas; Jean-Pierre Timmermans; Barbara Peruzzi; Alfredo Cappariello; Nadia Rucci; Giovanni Spera; Miep H Helfrich; Wim Van Hul; Silvia Migliaccio; Anna Teti
A new heterozygous mutation (R714C) of the osteopetrosis gene, pleckstrin homolog domain containing family M (with run domain) member 1 (PLEKHM1), impairs vesicular acidification and increases TRACP secretion in osteoclasts.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2008;23(3):380-91.
2007: Kim Brixen; Sigri Beckers; A Peeters; E Piters; Wendy Balemans; Torben Leo Nielsen; Kristian Wraae; Lise Bathum; C Brasen; Claus Hagen; Marianne Andersen; Wim Van Hul; Bo Abrahamsen
Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with peak bone mass in non-sedentary men: results from the Odense androgen study.
Calcified tissue international 2007;81(6):421-9.
2007: Greet Beyens; Anna Daroszewska; Fenna de Freitas; Erik Fransen; Filip Vanhoenacker; Leon Verbruggen; Hans-Georg Zmierczak; René Westhovens; Jan F Van Offel; Stuart H Ralston; Jean-Pierre Devogelaer; Wim Van Hul
Identification of sex-specific associations between polymorphisms of the osteoprotegerin gene, TNFRSF11B, and Paget's disease of bone.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2007;22(7):1062-71.
2007: Wendy Balemans; Wim Van Hul
The genetics of low-density lipoprotein receptor-related protein 5 in bone: a story of extremes.
Endocrinology 2007;148(6):2622-9.
2007: Wendy Balemans; Jean-Pierre Devogelaer; Erna Cleiren; Elke Piters; Emanuelle Caussin; Wim Van Hul
Novel LRP5 missense mutation in a patient with a high bone mass phenotype results in decreased DKK1-mediated inhibition of Wnt signaling.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2007;22(5):708-16.
2007: Armand Peeters; Sigri Beckers; Ilse Mertens; Wim Van Hul; Luc Van Gaal
The G1422A variant of the cannabinoid receptor gene (CNR1) is associated with abdominal adiposity in obese men.
Endocrine 2007;31(2):138-41.
2007: Liesbeth Van Wesenbeeck; Paul R Odgren; Fraser Coxon; Annalisa Frattini; Pierre Moens; Bram Perdu; Carole A MacKay; Els Van Hul; Jean-Pierre Timmermans; Filip Vanhoenacker; Ruben Jacobs; Barbara Peruzzi; Anna Teti; Miep H Helfrich; Michael J Rogers; Anna Villa; Wim Van Hul
Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans.
The Journal of clinical investigation 2007;117(4):919-30.
2007: Yolande van Bever; Wendy Balemans; Els L I M Duval; Ann Jespers; François Eyskens; Wim Van Hul; Winnie Courtens
Exclusion of OGDH and BMP4 as candidate genes in two siblings with autosomal recessive DOOR syndrome.
American journal of medical genetics. Part A 2007;143(7):763-7.
2007: Wim Van Hul
Lessons from sclerosing bone dysplasias.
Hormone research 2007;68 Suppl 5():37-9.
2007: Greet Beyens; Wim Van Hul
Pathophysiology and genetics of metabolic bone disorders characterized by increased bone turnover.
Critical reviews in eukaryotic gene expression 2007;17(3):215-40.
2006: Greet Beyens; Wim Wuyts; Erna Cleiren; Fenna de Freitas; R Tiegs; Wim Van Hul
Identification and molecular characterization of a novel splice-site mutation (G1205C) in the SQSTM1 gene causing Paget's disease of bone in an extended American family.
Calcified tissue international 2006;79(5):281-8.
2006: Wendy Balemans; Wim Van Hul
Human genetics of SOST.
Journal of musculoskeletal & neuronal interactions 2006;6(4):355-6.
2006: Sigri Beckers; Ilse Mertens; A Peeters; L Van Gaal; Wim Van Hul
Screening for melanocortin-4 receptor mutations in a cohort of Belgian morbidly obese adults and children.
International journal of obesity (2005) 2006;30(2):221-5.
2006: Pieter Verdyck; Wim Wuyts; Wim Van Hul
Genetic defects in the development of the skull vault in humans and mice.
Critical reviews in eukaryotic gene expression 2006;16(2):119-42.
2006: Pieter Verdyck; Bettina Blaumeiser; Muriel Holder-Espinasse; Wim Van Hul; Wim Wuyts
Adams-Oliver syndrome: clinical description of a four-generation family and exclusion of five candidate genes.
Clinical genetics 2006;69(1):86-92.
2006: Koen Janssens; Filip Vanhoenacker; M Bonduelle; Leon Verbruggen; Lionel Van Maldergem; S Ralston; N Guañabens; N Migone; S Wientroub; M T Divizia; C Bergmann; C Bennett; S Simsek; S Melançon; T Cundy; Wim Van Hul
Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment.
Journal of medical genetics 2006;43(1):1-11.
2005: Liesbeth Spruijt; Pieter Verdyck; Wim Van Hul; Wim Wuyts; C E M de Die-Smulders
A novel mutation in the MSX2 gene in a family with foramina parietalia permagna (FPP).
American journal of medical genetics. Part A 2005;139(1):45-7.
2005: Wendy Balemans; Liesbeth Van Wesenbeeck; Wim Van Hul
A clinical and molecular overview of the human osteopetroses.
Calcified tissue international 2005;77(5):263-74.
2005: Ulrika Pettersson; Omar Albagha; Max Mirolo; Anna Taranta; Annalisa Frattini; Fiona E A McGuigan; Paolo Vezzoni; Anna Teti; Wim Van Hul; David M Reid; Anna Villa; Stuart H Ralston
Polymorphisms of the CLCN7 gene are associated with BMD in women.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2005;20(11):1960-7.
2005: Patricia Crabbe; Wendy Balemans; Andy Willaert; Inge Van Pottelbergh; Erna Cleiren; Paul J Coucke; Minrong Ai; Stefan Goemaere; Wim Van Hul; Anne De Paepe; Jean-Marc Kaufman
Missense mutations in LRP5 are not a common cause of idiopathic osteoporosis in adult men.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2005;20(11):1951-9.
2005: Koen Janssens; Peter ten Dijke; Sophie Janssens; Wim Van Hul
Transforming growth factor-beta1 to the bone.
Endocrine reviews 2005;26(6):743-74.
2005: S Simsek; K Janssens; Mei Lan Kwee; Wim Van Hul; J Veenstra; JAN COEN NETELENBOS
Camurati-Engelmann disease (progressive diaphyseal dysplasia) in a Moroccan family.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2005;16(9):1167-70.
2005: Mei Lan Kwee; Wendy Balemans; Erna Cleiren; Johan J P Gille; Frits Van Der Blij; Jan M Sepers; Wim Van Hul
An autosomal dominant high bone mass phenotype in association with craniosynostosis in an extended family is caused by an LRP5 missense mutation.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2005;20(7):1254-60.
2005: Minrong Ai; Sheri L Holmen; Wim Van Hul; Bart Williams; Matthew L Warman
Reduced affinity to and inhibition by DKK1 form a common mechanism by which high bone mass-associated missense mutations in LRP5 affect canonical Wnt signaling.
Molecular and cellular biology 2005;25(12):4946-55.
2005: Wendy Balemans; Erna Cleiren; Ulrike Siebers; Jürgen Horst; Wim Van Hul
A generalized skeletal hyperostosis in two siblings caused by a novel mutation in the SOST gene.
Bone 2005;36(6):943-7.
2005: Koen Janssens; Marie-Christine de Vernejoul; Fenna de Freitas; Filip Vanhoenacker; Wim Van Hul
An intermediate form of juvenile Paget's disease caused by a truncating TNFRSF11B mutation.
Bone 2005;36(3):542-8.
2005: Liesbeth Van Wesenbeeck; Wim Van Hul
Lessons from osteopetrotic mutations in animals: impact on our current understanding of osteoclast biology.
Critical reviews in eukaryotic gene expression 2005;15(2):133-62.
2004: Jan Hellemans; Olena Preobrazhenska; Andy Willaert; Philippe Debeer; Peter C M Verdonk; Teresa Costa; Koen Janssens; Björn Menten; Nadine Van Roy; Stefan Vermeulen; Ravi Savarirayan; Wim Van Hul; Filip Vanhoenacker; Danny Huylebroeck; Anne De Paepe; Jean-Marie Naeyaert; Jo Vandesompele; Frank Speleman; Kristin Verschueren; Paul J Coucke; Geert R Mortier
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.
Nature genetics 2004;36(11):1213-8.
2004: Mark L Johnson; Kimberley Harnish; Roel Nusse; Wim Van Hul
LRP5 and Wnt signaling: a union made for bone.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2004;19(11):1749-57.
2004: Greet Beyens; Els Van Hul; K Van Driessche; Erik Fransen; Jean-Pierre Devogelaer; Filip Vanhoenacker; Jan F Van Offel; Leon Verbruggen; L De Clerck; René Westhovens; Wim Van Hul
Evaluation of the role of the SQSTM1 gene in sporadic Belgian patients with Paget's disease.
Calcified tissue international 2004;75(2):144-52.
2004: Wendy Balemans; Wim Van Hul
Identification of the disease-causing gene in sclerosteosis--discovery of a novel bone anabolic target?
Journal of musculoskeletal & neuronal interactions 2004;4(2):139-42.
2004: Danny Mathysen; Nadine Van Roy; Wim Van Hul; Geneviève Laureys; P Ambros; Frank Speleman; Wim Wuyts
Molecular analysis of the putative tumour-suppressor gene EXTL1 in neuroblastoma patients and cell lines.
European journal of cancer (Oxford, England : 1990) 2004;40(8):1255-61.
2004: Wim Wuyts; Gerard Waeber; Peter Meinecke; Herdit Schüler; Timm Goecke; Wim Van Hul; Oliver Bartsch
Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects.
European journal of human genetics : EJHG 2004;12(5):400-6.
2004: Liesbeth Van Wesenbeeck; Paul R Odgren; Carole A MacKay; Wim Van Hul
Localization of the gene causing the osteopetrotic phenotype in the incisors absent (ia) rat on chromosome 10q32.1.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2004;19(2):183-9.
2003: Jon E Wergedal; Katarina Veskovic; Minea Hellan; Christine Nyght; Wendy Balemans; Cesar Libanati; Filip M Vanhoenacker; Johan Tan; David J Baylink; Wim Van Hul
Patients with Van Buchem disease, an osteosclerotic genetic disease, have elevated bone formation markers, higher bone density, and greater derived polar moment of inertia than normal.
The Journal of clinical endocrinology and metabolism 2003;88(12):5778-83.
2003: Koen Janssens; Elizabeth Thompson; Filip Vanhoenacker; Ravi Savarirayan; Lloyd Morris; Angus Dobbie; Wim Van Hul
Macrocephaly and sclerosis of the tubular bones in an isolated patient: a mild case of craniodiaphyseal dysplasia?
Clinical dysmorphology 2003;12(4):245-50.
2003: Filip M Vanhoenacker; Koen Janssens; Wim Van Hul; R Gershoni-Baruch; R Brik; Arthur M De Schepper
Camurati-Engelmann disease. Review of radioclinical features.
Acta radiologica (Stockholm, Sweden : 1987) 2003;44(4):430-4.
2003: Neil W A McGowan; Heather MacPherson; Katrien Janssens; Wim Van Hul; Julie Crockett; William D Fraser; Stuart H Ralston; Miep H Helfrich
A mutation affecting the latency-associated peptide of TGFbeta1 in Camurati-Engelmann disease enhances osteoclast formation in vitro.
The Journal of clinical endocrinology and metabolism 2003;88(7):3321-6.
2003: Liesbeth Van Wesenbeeck; Erna Cleiren; Jørgen Gram; Rodney K Beals; Olivier Bénichou; Domenico Scopelliti; L Lyndon Key; Tara Renton; Cindy Bartels; Yaoqin Gong; Matthew L Warman; Marie-Christine de Vernejoul; Jens Bollerslev; Wim Van Hul
Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density.
American journal of human genetics 2003;72(3):763-71.
2003: Koen Janssens; Peter ten Dijke; Stuart H Ralston; Carsten Bergmann; Wim Van Hul
Transforming growth factor-beta 1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein.
The Journal of biological chemistry 2003;278(9):7718-24.
2003: Wim Van Hul
Recent progress in the molecular genetics of sclerosing bone dysplasias.
Pediatric pathology & molecular medicine 2003;22(1):11-22.
2002: Wim Wuyts; Dominique Roland; Hermann-Josef Lüdecke; Jan Wauters; Martine Foulon; Wim Van Hul; Lionel Van Maldergem
Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion.
American journal of medical genetics 2002;113(4):326-32.
2002: Liesbeth Van Wesenbeeck; Paul R Odgren; Carole A MacKay; Marina D'Angelo; Fayez F Safadi; Steven N Popoff; Wim Van Hul; Sandy C Marks
The osteopetrotic mutation toothless (tl) is a loss-of-function frameshift mutation in the rat Csf1 gene: Evidence of a crucial role for CSF-1 in osteoclastogenesis and endochondral ossification.
Proceedings of the National Academy of Sciences of the United States of America 2002;99(22):14303-8.
2002: Wendy Balemans; Wim Van Hul
Extracellular regulation of BMP signaling in vertebrates: a cocktail of modulators.
Developmental biology 2002;250(2):231-50.
2002: Lynne J Hocking; Gavin J A Lucas; Anna Daroszewska; Jon Mangion; Mark Olavesen; Tim Cundy; Geoffrey C Nicholson; Lynley Ward; Simon T Bennett; Wim Wuyts; Wim Van Hul; Stuart H Ralston
Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease.
Human molecular genetics 2002;11(22):2735-9.
2002: Wendy Balemans; Dorothee Foernzler; C Parsons; M Ebeling; A Thompson; D M Reid; Klaus Lindpaintner; Stuart H Ralston; Wim Van Hul
Lack of association between the SOST gene and bone mineral density in perimenopausal women: analysis of five polymorphisms.
Bone 2002;31(4):515-9.
2002: Koen Janssens; Wim Van Hul
Molecular genetics of too much bone.
Human molecular genetics 2002;11(20):2385-93.
2002: Els Van Hul; Jørgen Gram; Jens Bollerslev; Liesbeth Van Wesenbeeck; Danny Mathysen; Poul Erik Andersen; Filip Vanhoenacker; Wim Van Hul
Localization of the gene causing autosomal dominant osteopetrosis type I to chromosome 11q12-13.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2002;17(6):1111-7.
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.
2001: Paul R Odgren; Nacksung Kim; Liesbeth Van Wesenbeeck; C MacKay; April Mason-Savas; Fayez F Safadi; Steven N Popoff; Christopher J Lengner; Wim Van Hul; Y Choi; Sandy C Marks
Evidence that the rat osteopetrotic mutation toothless (tl) is not in the TNFSF11 (TRANCE, RANKL, ODF, OPGL) gene.
The International journal of developmental biology 2001;45(8):853-9.
2001: Erna Cleiren; Olivier Bénichou; Els Van Hul; Jørgen Gram; Jens Bollerslev; F R Singer; K Beaverson; A Aledo; M P Whyte; T Yoneyama; M C deVernejoul; Wim Van Hul
Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene.
Human molecular genetics 2001;10(25):2861-7.
2001: Filip M Vanhoenacker; Wim Van Hul; W Wuyts; P J Willems; Arthur M De Schepper
Hereditary multiple exostoses: from genetics to clinical syndrome and complications.
European journal of radiology 2001;40(3):208-17.
2001: Wim Van Hul; Filip Vanhoenacker; Wendy Balemans; Koen Janssens; Arthur M De Schepper
Molecular and radiological diagnosis of sclerosing bone dysplasias.
European journal of radiology 2001;40(3):198-207.
2001: Filip M Vanhoenacker; Wim Van Hul; J Gielen; Arthur M De Schepper
Congenital skeletal abnormalities: an introduction to the radiological semiology.
European journal of radiology 2001;40(3):168-83.
2001: Lynne J Hocking; C A Herbert; R K Nicholls; F Williams; Simon T Bennett; Tim Cundy; Geoffrey C Nicholson; W Wuyts; Wim Van Hul; Stuart H Ralston
Genomewide search in familial Paget disease of bone shows evidence of genetic heterogeneity with candidate loci on chromosomes 2q36, 10p13, and 5q35.
American journal of human genetics 2001;69(5):1055-61.
2001: Olivier Bénichou; Erna Cleiren; Jørgen Gram; Jens Bollerslev; Marie-Christine de Vernejoul; Wim Van Hul
Mapping of autosomal dominant osteopetrosis type II (Albers-Schönberg disease) to chromosome 16p13.3.
American journal of human genetics 2001;69(3):647-54.
2001: M Marco-Mingot; J L San-Millán; W Wuyts; J Bachiller-Corral; Wim Van Hul; AA Morales-Piga
Lack of mutations in the RANK gene in Spanish patients with Paget disease of bone.
Clinical genetics 2001;60(1):86-8.
2001: Wim Wuyts; Wim Van Hul; Oliver Bartsch; Andrew O M Wilkie; Peter Meinecke
Burning down DEFECT11.
American journal of medical genetics 2001;100(4):331-5.
2001: Wendy Balemans; M Ebeling; N Patel; Els Van Hul; P Olson; M Dioszegi; C Lacza; Wim Wuyts; Jenneke van den Ende; P Willems; A F Paes-Alves; S Hill; M Bueno; F J Ramos; P Tacconi; Frederik G Dikkers; Constantine Straturis; Klaus Lindpaintner; B Vickery; Dorothee Foernzler; Wim Van Hul
Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST).
Human molecular genetics 2001;10(5):537-43.
2001: Danny Mathysen; Wim Wuyts; PJ Bossuyt; Jan Wauters; Wim Van Hul
Assignment of the mouse Extl1 gene to the distal part of chromosome 4 by in situ hybridization and radiation hybrid mapping.
Cytogenetics and cell genetics 2001;92(1-2):162-3.
2001: Wim Wuyts; Liesbeth Van Wesenbeeck; AA Morales-Piga; S Ralston; Lynne J Hocking; Filip Vanhoenacker; René Westhovens; Leon Verbruggen; D Anderson; A Hughes; Wim Van Hul
Evaluation of the role of RANK and OPG genes in Paget's disease of bone.
Bone 2001;28(1):104-7.
2000: Wim Wuyts; Erna Cleiren; T Homfray; A Rasore-Quartino; Filip Vanhoenacker; Wim Van Hul
The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500).
Journal of medical genetics 2000;37(12):916-20.
2000: Koen Janssens; R Gershoni-Baruch; N Guañabens; N Migone; S Ralston; M Bonduelle; Willy Lissens; Lionel Van Maldergem; Filip Vanhoenacker; Leon Verbruggen; Wim Van Hul
Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease.
Nature genetics 2000;26(3):273-5.
2000: Olivier Bénichou; B Bénichou; Henri Copin; Marie-Christine de Vernejoul; Wim Van Hul
Further evidence for genetic heterogeneity within type II autosomal dominant osteopetrosis.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2000;15(10):1900-4.
2000: Lynne J Hocking; F Slee; S I Haslam; Tim Cundy; G Nicholson; Wim Van Hul; Stuart H Ralston
Familial Paget's disease of bone: patterns of inheritance and frequency of linkage to chromosome 18q.
Bone 2000;26(6):577-80.
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: Koen Janssens; R Gershoni-Baruch; Els Van Hul; R Brik; N Guañabens; N Migone; Leon Verbruggen; Stuart H Ralston; M Bonduelle; Lionel Van Maldergem; Filip Vanhoenacker; Wim Van Hul
Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13.
Journal of medical genetics 2000;37(4):245-9.
2000: S Mampaey; Filip Vanhoenacker; K Boven; Wim Van Hul; Arthur De Schepper
Progressive pseudorheumatoid dysplasia.
European radiology 2000;10(11):1832-5.
2000: Filip M Vanhoenacker; LH De Beuckeleer; Wim Van Hul; Wendy Balemans; G J Tan; S C Hill; Arthur M De Schepper
Sclerosing bone dysplasias: genetic and radioclinical features.
European radiology 2000;10(9):1423-33.
2000: Wim Wuyts; Wim Van Hul
Characterization and genomic localization of the mouse Extl2 gene.
Cytogenetics and cell genetics 2000;89(3-4):185-8.
2000: Wim Wuyts; Wim Van Hul
Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes.
Human mutation 2000;15(3):220-7.
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: J R Hurvitz; WM Suwairi; Wim Van Hul; Hatem El-Shanti; andrea superti-furga; Jean Roudier; D Holderbaum; Richard M Pauli; J K Herd; Els Van Hul; H Rezai-Delui; E Legius; M Le Merrer; Jamil R Al-Alami; Sultan A Bahabri; Matthew L Warman
Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.
Nature genetics 1999;23(1):94-8.
1999: Wim Wuyts; G Di Gennaro; Federico Bianco; Jan Wauters; Cristoforo Morocutti; F Pierelli; PJ Bossuyt; Wim Van Hul; C Casali
Molecular and clinical examination of an Italian DEFECT11 family.
European journal of human genetics : EJHG 1999;7(5):579-84.
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: Wim Van Hul
Paget's disease from a genetic perspective.
Bone 1999;24(5 Suppl):29S-30S.
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.
1998: S I Haslam; Wim Van Hul; AA Morales-Piga; Wendy Balemans; J L San-Millan; K Nakatsuka; P Willems; Neva E Haites; Stuart H Ralston
Paget's disease of bone: evidence for a susceptibility locus on chromosome 18q and for genetic heterogeneity.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 1998;13(6):911-7.
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: 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.
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.
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: 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: 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.
1995: Wim Wuyts; S Ramlakhan; Wim Van Hul; Jacqueline T Hecht; Ans M W van den Ouweland; Wendy H Raskind; F C Hofstede; Edwin Reyniers; Dan E Wells; Bert B A de Vries
Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11.
American journal of human genetics 1995;57(2):382-7.
1994: A Dutriaux; Jean Rossier; Wim Van Hul; Dean Nizetic; D Theophille; Jean-Maurice Delabar; Christine Van Broeckhoven; Marie-Claude Potier
Cloning and characterization of a 135- to 500-kb region of homology on the long arm of human chromosome 21.
Genomics 1994;22(2):472-7.
1993: Wim Van Hul; Guy Van Camp; Lieven Stuyver; Jean-Maurice Delabar; Melvin G McInnis; AC Warren; S E Antonarakis; Christine Van Broeckhoven
A contiguous physical map of the pericentromeric region of chromosome 21q between D21Z1 and D21S13E.
Genomics 1993;15(3):626-30.
1992: AC Warren; Michael B Petersen; Wim Van Hul; Melvin G McInnis; Christine Van Broeckhoven; T K Cox; Aravinda Chakravarti; S E Antonarakis
D21S215 is a (GT)n polymorphic marker close to centromeric alphoid sequences on chromosome 21.
Genomics 1992;13(4):1365-7.
1992: L Hendriks; C.M. Duijn; Patrick Cras; Marc Cruts; Wim Van Hul; Frans van Harskamp; AC Warren; Melvin G McInnis; S E Antonarakis; Jean-Jacques Martin
Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene.
Nature genetics 1992;1(3):218-21.
1992: Vincent Timmerman; Eva Nelis; Wim Van Hul; B W Nieuwenhuijsen; KL Chen; S Wang; K Ben Othman; B Cullen; Robin J Leach; C Oliver Hanemann
The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication.
Nature genetics 1992;1(3):171-5.
1992: Petra Raeymaekers; Vincent Timmerman; Eva Nelis; Wim Van Hul; Peter De Jonghe; Jean-Jacques Martin; Christine Van Broeckhoven
Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group.
Journal of medical genetics 1992;29(1):5-11.
1991: Guy Van Camp; Hubert Backhovens; Marc Cruts; A Wehnert; Wim Van Hul; P Stinissen; Christine Van Broeckhoven
Identification of chromosome 21 DNA polymorphisms for genetic studies in Alzheimer's disease and Down syndrome.
Human genetics 1991;87(6):649-53.
1991: Egbert Bakker; Christine Van Broeckhoven; Joost Haan; E Voorhoeve; Wim Van Hul; Efrat Levy; I Lieberburg; M D Carman; Gert-Jan B van Ommen; Blas Frangione
DNA diagnosis for hereditary cerebral hemorrhage with amyloidosis (Dutch type)
American journal of human genetics 1991;49(3):518-21.
1991: Wim Van Hul; Hubert Backhovens; Guy Van Camp; P Stinissen; Marc Cruts; A Wehnert; Christine Van Broeckhoven
Subregional localization of the chromosome 21 loci D21S24 and D21S26 using physical mapping techniques.
Human genetics 1991;87(2):109-11.
1990: Christine Van Broeckhoven; J Haan; Egbert Bakker; John Hardy; Wim Van Hul; A Wehnert; M Vegter-Van der Vlis; Raymund A C Roos
Amyloid beta protein precursor gene and hereditary cerebral hemorrhage with amyloidosis (Dutch).
Science (New York, N.Y.) 1990;248(4959):1120-2.
1990: Guy Van Camp; Wim Van Hul; Hubert Backhovens; P Stinissen; A Wehnert; D Patterson; Antoon Vandenberghe; Christine Van Broeckhoven
Physical mapping of chromosome 21 DNA markers in Alzheimer's disease region using somatic cell hybrids.
Somatic cell and molecular genetics 1990;16(3):241-9.
1990: P Stinissen; Wim Van Hul; Guy Van Camp; Hubert Backhovens; A Wehnert; Antoon Vandenberghe; Christine Van Broeckhoven
The pericentromeric 21 DNA marker pGSM21 (D21S13) contains an expressed HTF island.
Genomics 1990;7(1):119-22.
1989: Guy Van Camp; P Stinissen; Wim Van Hul; Hubert Backhovens; A Wehnert; A Vandenberge; Christine Van Broeckhoven
Selection of human chromosome 21-specific DNA probes for genetic analysis in Alzheimer's dementia and Down syndrome.
Human genetics 1989;83(1):58-60.
1987: Egbert Bakker; Christine Van Broeckhoven; E J Bonten; M J van de Vooren; H Veenema; Wim Van Hul; Gert-Jan B van Ommen; Antoon Vandenberghe; P L Pearson
Germline mosaicism and Duchenne muscular dystrophy mutations.
Nature 1987;329(6139):554-6.
1987: Christine Van Broeckhoven; A M Genthe; Antoon Vandenberghe; B Horsthemke; Hubert Backhovens; Petra Raeymaekers; Wim Van Hul; A Wehnert; J Gheuens; Patrick Cras
Failure of familial Alzheimer's disease to segregate with the A4-amyloid gene in several European families.
Nature 1987;329(6135):153-5.