List of works by Wim Van Hul

A Contiguous Physical Map of the Pericentromeric Region of Chromosome 21q between D21Z1 and D21S13E

article by Wim Van Hul et al published March 1993 in Genomics

A Known SOST Gene Mutation Causes Sclerosteosis in a Familial and an Isolated Case from Brazilian Origin

article

A Mutation Affecting the Latency-Associated Peptide of TGFβ1 in Camurati-Engelmann Disease Enhances Osteoclast Formationin Vitro

article

A Novel Domain-Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone.

scientific article

A common LRP4 haplotype is associated with bone mineral density and hip geometry in men-data from the Odense Androgen Study (OAS).

scientific article

A gene variant of PNPLA3, but not of APOC3, is associated with histological parameters of NAFLD in an obese population.

scientific article published on 6 June 2013

A generalized skeletal hyperostosis in two siblings caused by a novel mutation in the SOST gene

scientific article published in June 2005

A look behind the scenes: the risk and pathogenesis of primary osteoporosis

scientific article published on 21 April 2015

A new familial sclerosing bone dysplasia.

scientific article published in March 2010

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

scientific article

A novel deletion mutation of the EXT2 gene in a large Chinese pedigree with hereditary multiple exostosis.

scientific article published on July 2001

A novel frameshift mutation (1651ins5) in exon 10 of the CFTR gene can be misinterpreted as a DeltaF508 mutation

scientific article published on 01 September 1999

A novel mutation in theMSX2 gene in a family with foramina parietalia permagna (FPP)

article

Adams-Oliver syndrome: clinical description of a four-generation family and exclusion of five candidate genes

scientific article

Amyloid beta protein precursor gene and hereditary cerebral hemorrhage with amyloidosis (Dutch)

scientific article published in Science

An autosomal dominant high bone mass phenotype in association with craniosynostosis in an extended family is caused by an LRP5 missense mutation

scientific article published on 7 March 2005

An intermediate form of juvenile Paget's disease caused by a truncating TNFRSF11B mutation

scientific article published on 01 March 2005

Analysis of genetic variations in the resistin gene shows no associations with obesity in women.

scientific article published on 24 January 2008

Assessment of gene-by-sex interaction effect on bone mineral density

scientific article (publication date: October 2012)

Assignment 1 of the mouse Extl1 gene to the distal part of chromosome 4 by in situ hybridization and radiation hybrid mapping

article

Association between polymorphisms of the Nesfatin gene, NUCB2, and obesity in men

article

Association of SIRT1 gene variation with visceral obesity

scientific article published on 27 September 2008

Association of the BDNF Val66Met variation with obesity in women.

scientific article published on 29 July 2008

Association study and mutation analysis of adiponectin shows association of variants in APM1 with complex obesity in women.

scientific article published in July 2009

Association study of MC4R with complex obesity and replication of the rs17782313 association signal

article by Sigri Beckers et al published May 2011 in Molecular Genetics and Metabolism

Association study of PNPLA2 gene with histological parameters of NAFLD in an obese population

article

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

article

Association study of polymorphisms in the SOST gene region and parameters of bone strength and body composition in both young and elderly men: data from the Odense Androgen Study

scientific article

Autosomal dominant osteopetrosis revisited: lessons from recent studies

scientific article published on 13 July 2013

Bone overgrowth-associated mutations in the LRP4 gene impair sclerostin facilitator function

scientific article

Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis.

scientific article published on 21 May 2015

Burning down DEFECT11

article

CNV analysis and mutation screening indicate an important role for the NPY4R gene in human obesity

scientific article

Camurati-Engelmann Disease

scientific article published on 05 February 2019

Camurati-Engelmann disease (progressive diaphyseal dysplasia): reports of an Indian kindred.

scientific article

Camurati-Engelmann disease. Review of radioclinical features.

scientific article

Characterization and genomic localization of the mouse Extl2 gene.

scientific article published in January 2000

Clinical and molecular analysis of nine families with Adams-Oliver syndrome

scientific article (publication date: June 2003)

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

article

Common genetic variation in sFRP5 is associated with fat distribution in men.

scientific article published on 28 November 2013

Common melanocortin-3 receptor variants are not associated with obesity, although rs3746619 does influence weight in obese individuals

scientific article published on 23 October 2010

Common variants in the gene for the serotonin receptor 6 (HTR6) do not contribute to obesity

scientific article published on December 2010

Copy number variation (CNV) analysis and mutation analysis of the 6q14.1–6q16.3 genes SIM1 and MRAP2 in Prader Willi like patients

article

DNA diagnosis for hereditary cerebral hemorrhage with amyloidosis (Dutch type) ⬇️

scientific article published on September 1, 1991

DNA sequencing and copy number variation analysis of MCHR2 in a cohort of Prader Willi like (PWL) patients

scientific article published on 20 October 2017

Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease

scientific article published on 01 October 2002

Dysfunction of lipid sensor GPR120 leads to obesity in both mouse and human

scientific journal article

EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas.

scientific article

Eight mutations including 5 novel ones in the COL1A1 gene in Czech patients with osteogenesis imperfecta.

scientific article

Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group ⬇️

scientific article published on January 1, 1992

Evaluation of a Role for NPY and NPY2R in the Pathogenesis of Obesity by Mutation and Copy Number Variation Analysis in Obese Children and Adolescents

scientific article published on 31 August 2017

Exclusion of OGDH and BMP4 as candidate genes in two siblings with autosomal recessive DOOR syndrome.

scientific article

Extracellular regulation of BMP signaling in vertebrates: a cocktail of modulators

scientific article

Failure of familial Alzheimer's disease to segregate with the A4-amyloid gene in several European families.

scientific article

Familial Paget’s disease of bone: patterns of inheritance and frequency of linkage to chromosome 18q

scientific article published on 01 June 2000

Fibrogenesis Imperfecta Ossium and Response to Human Growth Hormone: A Potential Therapy

scientific article published on 28 February 2017

First missense mutation in the SOST gene causing sclerosteosis by loss of sclerostin function

scientific article published on July 2010

Founder Effect in Different European Countries for the Recurrent P392L SQSTM1 Mutation in Paget’s Disease of Bone

scientific article published on 10 June 2008

Further delineation of facioaudiosymphalangism syndrome: Description of a family with a novel NOG mutation and without hearing loss.

scientific article published on 20 March 2016

Genetic Screening of WNT4 and WNT5B in Two Populations with Deviating Bone Mineral Densities

scientific article published on 12 January 2017

Genetic analysis and effect of triiodothyronine and prednisone trial on bone turnover in a patient with craniotubular hyperostosis

scientific article published on 29 April 2008

Genetic and structural variation in the SH2B1 gene in the Belgian population

scientific article published on 27 May 2015

Genetic association between WNT10B polymorphisms and obesity in a Belgian case–control population is restricted to males

article

Genetic association study of WNT10B polymorphisms with BMD and adiposity parameters in Danish and Belgian males

scientific article published on 17 January 2013

Genetic control of bone mass

scientific article

Genetic defects in the development of the skull vault in humans and mice

scientific article

Genetic variation in the TNFRSF11A gene encoding RANK is associated with susceptibility to Paget's disease of bone.

scientific article

Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.

scientific article

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture

scientific article

Germline mosaicism and Duchenne muscular dystrophy mutations

scientific article published in Nature

Germline mosaicism in osteopathia striata with cranial sclerosis – recurrence in siblings

article

Hereditary multiple exostoses: from genetics to clinical syndrome and complications

article

Heterozygous mutations causing partial prohormone convertase 1 deficiency contribute to human obesity

scientific article published on 30 December 2011

Human genetics of SOST

scientific article

Identification and Functional Characterization of Novel Mutations in the Melanocortin-4 Receptor

article

Identification and characterization of a novel member of the EXT gene family, EXTL2.

scientific article

Identification and functional characterization of a missense mutation in resistin in two patients with severe obesity and insulin resistance.

scientific article published on 25 March 2011

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.

scientific article published on 14 November 2006

Identification of Three Novel Genetic Variants in the Melanocortin-3 Receptor of Obese Children

scientific article published on 10 June 2010

Identification of a third EXT-like gene (EXTL3) belonging to the EXT gene family.

scientific article

Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity

scientific article published on 7 April 2016

Identification of chromosome 21 DNA polymorphisms for genetic studies in Alzheimer's disease and Down syndrome.

scientific article published in October 1991

Identification of genetic modifiers of monogenic (bone) diseases: New tools available, but with limitations

Identification of mutations in the NUCB2/nesfatin gene in children with severe obesity

article

Identification of sex-specific associations between polymorphisms of the osteoprotegerin gene, TNFRSF11B, and Paget's disease of bone.

scientific article published in July 2007

Identification of the first deletion in the LRP5 gene in a patient with autosomal dominant osteopetrosis type I

scientific article

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

scientific article published on 31 March 2011

Investigation of common and rare genetic variation in the BAMBI genomic region in light of human obesity.

scientific article

Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans

scientific article

LRP5 and Wnt signaling: a union made for bone

scientific article published on 23 August 2004

Lack of association between the SOST gene and bone mineral density in perimenopausal women: analysis of five polymorphisms

scientific article (publication date: October 2002)

Lack of mutations in the RANK gene in Spanish patients with Paget disease of bone

article

Large-scale analysis of association between LRP5 and LRP6 variants and osteoporosis

scientific article published on March 2008

Lessons from osteopetrotic mutations in animals: impact on our current understanding of osteoclast biology

scientific article

Lessons from sclerosing bone dysplasias

scientific article published on 10 December 2007

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

scientific article

Localization of the gene causing autosomal dominant osteopetrosis type I to chromosome 11q12-13

scientific article (publication date: June 2002)

Localization of the gene causing the osteopetrotic phenotype in the incisors absent (ia) rat on chromosome 10q32.1.

scientific article

Localization of the gene for hyperostosis cranialis interna to chromosome 8p21 with analysis of three candidate genes.

scientific article published on 3 May 2013

Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis

scientific article

Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features

scientific article published on 17 June 2013

MECHANISMS IN ENDOCRINOLOGY: Genetics of human bone formation

scientific article published on 5 April 2017

Macrocephaly and sclerosis of the tubular bones in an isolated patient: a mild case of craniodiaphyseal dysplasia?

scientific article published on 01 October 2003

Mapping of autosomal dominant osteopetrosis type II (Albers-Schönberg disease) to chromosome 16p13.3.

scientific article

Missense mutations in LRP5 are not a common cause of idiopathic osteoporosis in adult men.

scientific article published on 11 July 2005

Molecular and clinical examination of an Italian DEFECT 11 family

article

Molecular and radiological diagnosis of sclerosing bone dysplasias.

scientific article

Molecular genetics of too much bone

scientific article

Monogenic and complex forms of obesity: insights from genetics reveal the leptin-melanocortin signaling pathway as a common player

scientific article published on January 2012

Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion

scientific article published in December 2002

Mutation analysis of WNT10B in obese children, adolescents and adults

scientific article

Mutation screen of the SIM1 gene in pediatric patients with early-onset obesity.

scientific article published on 7 October 2013

Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis

scientific article (publication date: 2000)

Mutations in sFRP1 or sFRP4 are not a common cause of craniotubular hyperostosis

scientific article published on 06 October 2012

Mutations in the gene encoding the latency-associated peptide of TGF-β1 cause Camurati-Engelmann disease

article

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.

scientific article published on 10 February 2015

Negative mutation screening of the NOG, BMPR1B, GDF5, and FGF9 genes indicates further genetic heterogeneity of the facioaudiosymphalangism syndrome.

scientific article

No conclusive evidence for association of polymorphisms in the adiponectin receptor 1 gene, AdipoR1, with common obesity.

scientific article published on 6 July 2012

No important role for genetic variation in the Chibby gene in monogenic and complex obesity

scientific article published on 5 May 2013

No mutations in the serotonin related TPH1 and HTR1B genes in patients with monogenic sclerosing bone disorders

scientific article published on 3 April 2013

Novel LRP5 missense mutation in a patient with a high bone mass phenotype results in decreased DKK1-mediated inhibition of Wnt signaling

scientific article published on May 2007

Novel SOST gene mutation in a sclerosteosis patient and her parents

scientific article published on 16 October 2012

Nucleotide variation of sFRP5 gene is not associated with obesity in children and adolescents.

scientific article published on 6 August 2016

Osteopathia striata with cranial sclerosis owing to WTX gene defect.

scientific article published in January 2010

PLEKHM1 regulates Salmonella-containing vacuole biogenesis and infection

scientific article published on 11 December 2014

PPARα gene expression correlates with severity and histological treatment response in patients with non-alcoholic steatohepatitis

scientific article published on 19 February 2015

Paget's disease from a genetic perspective.

scientific article

Paget's disease of bone: evidence for complex pathogenetic interactions

scientific article published on 29 September 2011

Pathophysiology and genetics of metabolic bone disorders characterized by increased bone turnover

scientific article published on January 2007

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

scientific article published in December 2003

Physical mapping of chromosome 21 DNA markers in Alzheimer's disease region using somatic cell hybrids.

scientific article

Polymorphisms in the endocannabinoid receptor 1 in relation to fat mass distribution

scientific article published on 29 June 2010

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.

scientific article

Polymorphisms of the CLCN7 gene are associated with BMD in women

scientific article

Possible role for ENPP1 polymorphism in obesity but not for INSIG2 and PLIN variants.

scientific article published on 28 April 2009

Prenatal diagnosis of osteopathia striata with cranial sclerosis

Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene.

scientific article published in June 1992

Prevalence of loss-of-function FTO mutations in lean and obese individuals

scientific article

Prevalence of rare MC3R variants in obese cases and lean controls

Progressive pseudorheumatoid dysplasia

scientific article published on 01 January 2000

Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects

scientific article published on May 2004

Recent progress in the molecular genetics of sclerosing bone dysplasias.

scientific article

Recurrent sclerosing dysplasia of bone: report of a case.

scientific article published in November 2008

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

scientific article published on June 2005

Refined physical mapping and genomic structure of the EXTL1 gene

scientific article (publication date: 1999)

Replication of the SH2B1 rs7498665 Association with Obesity in a Belgian Study Population

article

Resistin polymorphisms show associations with obesity, but not with bone parameters in men: results from the Odense Androgen Study

Sclerosing bone disorders: a lot of knowns but still some unknowns

scientific article published on 6 June 2012

Sclerosing bone disorders: too much of a good thing

scientific article published on January 2010

Sclerosing bone dysplasias with involvement of the craniofacial skeleton.

scientific article published on 08 December 2013

Sclerosing bone dysplasias: genetic and radioclinical features.

scientific article

Sclerosing bone dysplasias: leads toward novel osteoporosis treatments

scientific article

Sclerostin in Mineralized Matrices and van Buchem Disease

scientific article published on 01 June 2009

Screening for melanocortin-4 receptor mutations in a cohort of Belgian morbidly obese adults and children.

scientific article

Screening for rare variants in the PNPLA3 gene in obese liver biopsy patients

scientific article published on 7 June 2016

Single nucleotide polymorphisms in sFRP4 are associated with bone and body composition related parameters in Danish but not in Belgian men.

scientific article published on 2 May 2012

Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density

scientific article

TGF-beta1-induced migration of bone mesenchymal stem cells couples bone resorption with formation

scientific article published on 05 July 2009

The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500)

scientific article

The G1422A variant of the cannabinoid receptor gene (CNR1) is associated with abdominal adiposity in obese men

article

The Lrp4R1170Q Homozygous Knock-In Mouse Recapitulates the Bone Phenotype of Sclerosteosis in Humans

scientific article published on 06 May 2017

The binding between sclerostin and LRP5 is altered by DKK1 and by high-bone mass LRP5 mutations

scientific article

The genetics of low-density lipoprotein receptor-related protein 5 in bone: a story of extremes

scientific article published on 29 March 2007

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

article

The neurology of carbonic anhydrase type II deficiency syndrome

scientific article published on 26 November 2011

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

scientific article

The pericentromeric 21 DNA marker pGSM21 (D21S13) contains an expressed HTF island

scientific article published on 01 May 1990

The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication

scientific article published on June 1, 1992

The role of extracellular modulators of canonical Wnt signaling in bone metabolism and diseases

scientific article published on 21 February 2013

The role of the leptin-melanocortin signalling pathway in the control of food intake

scientific article published on January 2009

Transforming growth factor-beta 1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein

scientific article published on 18 December 2002

Transforming growth factor-beta1 to the bone

scientific article

Van Buchem disease: lifetime evolution of radioclinical features ⬇️

scientific article published on October 1, 2003

Variants in the FTO gene are associated with common obesity in the Belgian population

article

Variation in the Kozak sequence of WNT16 results in an increased translation and is associated with osteoporosis related parameters

scientific article published in November 2013

WNT16 Requires Gα Subunits as Intracellular Partners for Both Its Canonical and Non-Canonical WNT Signalling Activity in Osteoblasts

scientific article published on 23 November 2019

Wnt signaling and the control of human stem cell fate.

scientific article

Wnt signaling: a win for bone

scientific article published on 14 March 2008

[Osteopathia striata with cranial sclerosis]

article

Paulina is supported by:

About Paulina

Help