W. Van Hul

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

Daniel L. Koller, David M. Evans, D. Kiel, 2012, Nature Genetics.

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

W. Van Hul, J. Horst, W. Balemans, 2005, Bone.

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

L. V. Van Gaal, S. Verhulst, K. Desager, 2016, Endocrine.

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

W. Van Hul, W. Balemans, 2002, Developmental biology.

Wnt Signaling and the Control of Human Stem Cell Fate

W. Hul, W. Van Hul, J. K. Van Camp, 2013, Stem Cell Reviews and Reports.

Autosomal dominant osteopetrosis revisited: lessons from recent studies.

J. Bollerslev, K. Brixen, K. Henriksen, 2013, European journal of endocrinology.

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

R. Eastell, M. Frost, J. Bollerslev, 2011, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

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

M. Andersen, K. Brixen, Igor Fijałkowski, 2014, Bone.

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

M. Andersen, K. Brixen, W. Van Hul, 2011, Calcified Tissue International.

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

L. Hocking, J. Mangion, S. Ralston, 2002, Human molecular genetics.

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

E. van Marck, M. Taskinen, G. Hubens, 2015, Journal of hepatology.

Sclerosing bone dysplasias with involvement of the craniofacial skeleton.

W. Hul, R. Stokroos, J. Manni, 2014, Bone.

Sclerostin in Mineralized Matrices and van Buchem Disease

P. Hogendoorn, W. Hul, C. Löwik, 2009, Journal of dental research.

Functional Assessment of Coding and Regulatory Variants From the DKK1 Locus

A. Díez-Pérez, Susanna Balcells, X. Nogués, 2020, JBMR plus.

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

G. Mortier, P. D’Haese, Igor Fijałkowski, 2017, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

MECHANISMS IN ENDOCRINOLOGY: Genetics of human bone formation.

W. Van Hul, E. Boudin, 2017, European journal of endocrinology.

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

M. Andersen, K. Brixen, W. Van Hul, 2017, Calcified Tissue International.

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

M. Andersen, K. Brixen, W. Van Hul, 2013, Bone.

Positional cloning of a gene involved in hereditary multiple exostoses.

B. D. de Vries, N. Nowak, T. Shows, 1996, Human molecular genetics.

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

G. Mortier, P. Martásek, Igor Fijałkowski, 2016, Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia.

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

L. V. Van Gaal, S. Verhulst, K. Desager, 2011, European journal of endocrinology.

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.

L. Shaffer, W. Hul, C. Powell, 1996, American journal of human genetics.

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

N. Khandelwal, S. Bhadada, D. Sharma, 2017, The Journal of clinical endocrinology and metabolism.

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

W. Van Hul, G. González, W. Balemans, 2008, Bone.

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

W. Van Hul, W. Balemans, 2007, Endocrinology.

Multiple bilateral hip fractures in a patient with dyskeratosis congenita caused by a novel mutation in the PARN gene

I. Demina, Z. Belaya, W. Van Hul, 2020, Osteoporosis International.

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

L. V. Van Gaal, W. Van Hul, D. Zegers, 2009, Critical reviews in eukaryotic gene expression.

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

L. V. Van Gaal, J. Timmermans, S. Verhulst, 2010, Obesity Facts.

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

G. Mortier, O. Kuismin, Igor Fijałkowski, 2012, Bone.

Genetic Variation in RIN3 in the Belgian Population Supports Its Involvement in the Pathogenesis of Paget’s Disease of Bone and Modifies the Age of Onset

G. Mortier, E. Fransen, J. Devogelaer, 2019, Calcified Tissue International.

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

P. Geusens, S. Boonen, E. Fransen, 2010, Human Genetics.

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

S. Marks, L. Van Wesenbeeck, S. Popoff, 2002, Proceedings of the National Academy of Sciences of the United States of America.

Evaluation of the role of RANK and OPG genes in Paget's disease of bone.

L. Hocking, S. Ralston, W. Wuyts, 2001, Bone.

Assignment of the human integral transmembrane protein 1 gene (ITM1) to human chromosome band 11q23.3 by in situ hybridization and YAC mapping.

N. Nowak, T. Shows, P. Willems, 1996, Cytogenetics and cell genetics.

Spondylo-epi-metaphyseal dysplasia due to a homozygous missense mutation in the gene encoding Matrilin-3 (T120M)

G. Mortier, S. Bhadada, W. Van Hul, 2020, Bone reports.

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

J. Timmermans, A. Teti, S. Migliaccio, 2007, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Characterization and genomic localization of the mouse Extl2 gene

W. Wuyts, W. Van Hul, 2000, Cytogenetic and Genome Research.

Identification and Characterization of a Novel Member of the EXT Gene Family, EXTL2

F. Speleman, N. Van Roy, W. Wuyts, 1997, European journal of human genetics : EJHG.

Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes

W. Wuyts, W. Van Hul, 2000, Human mutation.

Association Study and Mutation Analysis of Adiponectin Shows Association of Variants in APM1 with Complex Obesity in Women

L. V. Van Gaal, S. Verhulst, D. Haentjens, 2009, Annals of human genetics.

An Autosomal Dominant High Bone Mass Phenotype in Association With Craniosynostosis in an Extended Family Is Caused by an LRP5 Missense Mutation

J. Gille, W. Van Hul, W. Balemans, 2005, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

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

M. Ferrari, A. Angius, A. Villa, 2015, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

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

M. Andersen, K. Brixen, W. Van Hul, 2013, Molecular Biology Reports.

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

L. V. Van Gaal, W. Van Hul, D. Zegers, 2010, Endocrine.

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

M. Andersen, K. Brixen, B. Abrahamsen, 2007, Calcified Tissue International.

Familial Paget's disease of bone: Long-term follow-up of unaffected relatives with and without Sequestosome 1 mutations.

W. Van Hul, S. Papapoulos, F. Smit, 2019, Bone.

Prevalence of rare MC3R variants in obese cases and lean controls

L. V. Van Gaal, K. Desager, W. Van Hul, 2013, Endocrine.

Molecular genetics of too much bone.

K. Janssens, W. Van Hul, 2002, Human molecular genetics.

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

G. Mortier, E. Fransen, W. Van Hul, 2019, Calcified Tissue International.

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

W. Reardon, E. Phelan, W. Van Hul, 2016, Clinical dysmorphology.

Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11.

B. D. de Vries, A. V. D. van den Ouweland, J. Hecht, 1995, American journal of human genetics.

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

L. V. Van Gaal, W. Van Hul, D. Zegers, 2012, Critical reviews in eukaryotic gene expression.

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

D. Adriaensen, T. Mueller, J. Timmermans, 2010, Human mutation.

Missense Mutations in LRP5 Are Not a Common Cause of Idiopathic Osteoporosis in Adult Men

J. Kaufman, Minrong Ai, A. De Paepe, 2005, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

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

G. Mortier, P. Dollé, D. Rifkin, 2015, Human molecular genetics.

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

P. Geusens, S. Boonen, S. Ralston, 2010, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Identification of the first deletion in the LRP5 gene in a patient with Autosomal Dominant Osteopetrosis type I

G. Damante, A. Villa, P. Vezzoni, 2011, Bone.

Recent progress in the molecular genetics of sclerosing bone dysplasias

W. Van Hul, 2003, Pediatric pathology & molecular medicine.

Molecular and radiological diagnosis of sclerosing bone dysplasias.

A. D. De Schepper, K. Janssens, F. Vanhoenacker, 2001, European journal of radiology.

Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis

G. Mortier, W. Van Hul, R. Koenig, 2011, Clinical genetics.

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

J. van den Ende, W. Van Hul, V. Borra, 2013, Clinical dysmorphology.

Identification of the disease-causing gene in sclerosteosis--discovery of a novel bone anabolic target?

W. Van Hul, W. Balemans, 2004, Journal of musculoskeletal & neuronal interactions.

Rare Heterozygous PCSK1 Variants in Human Obesity: The Contribution of the p.Y181H Variant and a Literature Review

S. Verhulst, W. Van Hul, K. Van Hoorenbeeck, 2022, Genes.

Identification of Compound Heterozygous Variants in LRP4 Demonstrates That a Pathogenic Variant outside the Third β-Propeller Domain Can Cause Sclerosteosis

G. Mortier, W. Van Hul, N. Hamdy, 2021, Genes.

Wnt signaling: a win for bone.

W. Van Hul, E. Boudin, E. Piters, 2008, Archives of biochemistry and biophysics.

Novel LRP5 Missense Mutation in a Patient With a High Bone Mass Phenotype Results in Decreased DKK1‐Mediated Inhibition of Wnt Signaling*

J. Devogelaer, W. Van Hul, W. Balemans, 2007, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Transforming growth factor-beta1 to the bone.

K. Janssens, S. Janssens, P. ten Dijke, 2005, Endocrine reviews.

Localization of the Gene for Hyperostosis Cranialis Interna to Chromosome 8p21 with Analysis of Three Candidate Genes

R. Stokroos, J. Manni, W. Van Hul, 2013, Calcified Tissue International.

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

Raoul Rooman, L. V. Van Gaal, J. Timmermans, 2011, Obesity.

A new familial sclerosing bone dysplasia

E. Chouery, A. Mégarbané, G. Lefranc, 2010, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia

G. Mortier, B. Peterlin, T. Haack, 2022, Journal of Medical Genetics.

Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.

G. Mortier, E. Conrad, B. Hamel, 1998, American journal of human genetics.

Localization of the Gene Causing the Osteopetrotic Phenotype in the Incisors Absent (Ia) Rat on Chromosome 10q32.1

L. Van Wesenbeeck, P. Odgren, W. Van Hul, 2004, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

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

W. Hul, W. Wuyts, W. Van Hul, 2005, Clinical genetics.

Osteopetrosis associated with PLEKHM1 and SNX10 genes, both involved in osteoclast vesicular trafficking.

W. Van Hul, Yentl Huybrechts, 2022, Bone.

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

J. Timmermans, A. Teti, A. Villa, 2007, The Journal of clinical investigation.

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

W. Hul, L. Van Wesenbeeck, P. Odgren, 2009, Calcified Tissue International.

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

L. Van Wesenbeeck, W. Van Hul, 2005, Critical reviews in eukaryotic gene expression.

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

C. van Broeckhoven, W. Hul, E. Bakker, 1991, American journal of human genetics.

A known SOST gene mutation causes sclerosteosis in a familial and an isolated case from Brazilian origin.

C. Kim, W. Van Hul, D. Bertola, 2008, Genetic testing.

Genetic Variation in RIN3 in the Belgian Population Supports Its Involvement in the Pathogenesis of Paget’s Disease of Bone and Modifies the Age of Onset

G. Mortier, E. Fransen, J. Devogelaer, 2019, Calcified Tissue International.

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.

J. Wergedal, F. Vanhoenacker, W. Van Hul, 2003, The Journal of clinical endocrinology and metabolism.

Molecular analysis of the putative tumour-suppressor gene EXTL1 in neuroblastoma patients and cell lines.

F. Speleman, P. Ambros, N. Van Roy, 2004, European journal of cancer.

Assignment1 of the mouse Extl1 gene to the distal part of chromosome 4 by in situ hybridization and radiation hybrid mapping

W. Wuyts, W. Van Hul, J. Wauters, 2001, Cytogenetic and Genome Research.

Localization of the Gene for Hyperostosis Cranialis Interna to Chromosome 8p21 with Analysis of Three Candidate Genes

R. Stokroos, J. Manni, W. Van Hul, 2013, Calcified Tissue International.

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

L. V. Van Gaal, S. Verhulst, K. Desager, 2016, Molecular Biology Reports.

A recessive form of craniodiaphyseal dysplasia caused by a homozygous missense variant in SP7/Osterix.

G. Mortier, W. Van Hul, D. Geneviève, 2022, Bone.

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

J. Hardy, C. Broeckhoven, C. van Broeckhoven, 1990, Science.

Sclerosing bone disorders: too much of a good thing.

W. Van Hul, B. Perdu, 2010, Critical reviews in eukaryotic gene expression.

Paget's disease from a genetic perspective.

W. Van Hul, 1999, Bone.

TGF-β1-induced Migration of Bone Mesenchymal Stem Cells Couples Bone Resorption and Formation

Yi Tang, Junbo Hu, Xu Cao, 2009, Nature Medicine.

Camurati–Engelmann Disease

G. Mortier, F. Vanhoenacker, W. Van Hul, 2019, Calcified Tissue International.

Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna.

W. Reardon, W. Hul, W. Wuyts, 2000, Human molecular genetics.

Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST).

M Dioszegi, K Lindpaintner, P. Tacconi, 2001, Human molecular genetics.

Camurati-Engelmann Disease : review of the clinical , radiological and molecular data of 24 families and implications towards diagnostics and treatment

S. Wientroub, S. Ralston, K. Janssens, 2005 .

Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13

R. Gershoni-baruch, S. Ralston, K. Janssens, 2000, Journal of medical genetics.

Bone Overgrowth-associated Mutations in the LRP4 Gene Impair Sclerostin Facilitator Function*

Sabine Geisse, Barbara Brannetti, A. Bauer, 2011, The Journal of Biological Chemistry.

Wnt Signaling and the Control of Human Stem Cell Fate

W. Hul, W. Van Hul, J. K. Van Camp, 2014, Stem Cell Reviews and Reports.

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

Igor Fijalkowski, Geert Mortier, G. Mortier, 2016, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

A contiguous physical map of the pericentromeric region of chromosome 21q between D21Z1 and D21S13E.

M. McInnis, S. Antonarakis, L. Stuyver, 1993, Genomics.

The neurology of carbonic anhydrase type II deficiency syndrome.

W. Hul, K. Abu-Amero, M. Salih, 2011, Brain : a journal of neurology.

Human Genetics of Sclerosing Bone Disorders

G. Mortier, W. Van Hul, E. Boudin, 2018, Current Osteoporosis Reports.

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

L. V. Van Gaal, S. Verhulst, W. Van Hul, 2018, Annals of Human Genetics.

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

Raoul Rooman, L. V. Van Gaal, S. Verhulst, 2015, Molecular genetics and metabolism.

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

Raoul Rooman, L. V. Van Gaal, K. Desager, 2012, Molecular genetics and metabolism.

LRP5 and Wnt Signaling: A Union Made for Bone

Mark L. Johnson, R. Nusse, W. Van Hul, 2004, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

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

Beverley Balkau, Philippe Froguel, David Meyre, 2013, The Journal of clinical investigation.

A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders

O. Mäkitie, M. Brandi, M. Zillikens, 2021, Frontiers in Endocrinology.

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

Jens Bollerslev, Tara Renton, Matthew L Warman, 2003, American journal of human genetics.

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

F. Gianfrancesco, S. Ralston, M. Brandi, 2011, Nature Genetics.

The human extracellular matrix gene 1 (ECM1): genomic structure, cDNA cloning, expression pattern, and chromosomal localization.

P. Feng, J. Ni, W. Van Hul, 1997, Genomics.

Cloning and characterization of a 135- to 500-kb region of homology on the long arm of human chromosome 21.

J. Rossier, D. Nižetić, J. Delabar, 1994, Genomics.

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

D. Kiel, A. Hofman, A. Uitterlinden, 2012, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature

G. Mortier, H. V. van Duyvenvoorde, E. Espiner, 2022, Journal of the Endocrine Society.

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

G. Hubens, M. Ruppert, L. V. Van Gaal, 2016, Clinics and research in hepatology and gastroenterology.

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

L. V. Van Gaal, S. Verhulst, W. Van Hul, 2016, Obesity.

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

W. Van Hul, Pui Yan Jenny Chung, 2012, Seminars in arthritis and rheumatism.

Localization of a gene for autosomal dominant osteopetrosis (Albers-Schönberg disease) to chromosome 1p21.

W. Hul, W. Wuyts, J. Bollerslev, 1997, American journal of human genetics.

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.

Susan S. Taylor, I. Scheffer, G. Mortier, 2020, American journal of human genetics.

Perspective of the GEMSTONE Consortium on Current and Future Approaches to Functional Validation for Skeletal Genetic Disease Using Cellular, Molecular and Animal-Modeling Techniques

S. Reppe, F. Rivadeneira, K. Søe, 2021, Frontiers in Endocrinology.

Insights into the multifactorial causation of obesity by integrated genetic and epigenetic analysis

W. Vanden Berghe, W. Van Hul, Sara Diels, 2020, Obesity reviews : an official journal of the International Association for the Study of Obesity.

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

L. V. Van Gaal, S. Verhulst, W. Van Hul, 2016, Molecular genetics and metabolism.

Clinical, molecular genetics and therapeutic aspects of syndromic obesity

W. Hul, W. Van Hul, M. Meuwissen, 2019, Clinical genetics.

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

F. Speleman, N. Van Roy, W. Wuyts, 1998, Genomics.

Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities.

Bart Loeys, Lut Van Laer, G. Mortier, 2018, American journal of human genetics.

Burning down DEFECT11.

A. Wilkie, W. Van Hul, P. Meinecke, 2001, American journal of medical genetics.

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

W. Wuyts, T. Homfray, F. Vanhoenacker, 2000, Journal of medical genetics.

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

W. Wuyts, W. Van Hul, L. Van Maldergem, 2002, American journal of medical genetics.

Molecular and clinical examination of an Italian DEFECT11 family.

F. Pierelli, C. Casali, W. Wuyts, 1999, European journal of human genetics : EJHG.

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

A. Cleton-Jansen, P. Hogendoorn, W. Hul, 1999, American journal of human genetics.

WNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders

G. Mortier, W. Van Hul, E. Boudin, 2020, Frontiers in Endocrinology.

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

Igor Fijałkowski, W. Van Hul, E. Boudin, 2013, Seminars in arthritis and rheumatism.

PLEKHM1 regulates Salmonella-containing vacuole biogenesis and infection.

B. Maček, D. Bumann, A. Frangakis, 2015, Cell host & microbe.

Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease

K. Lindpaintner, W. Hul, W. Wuyts, 2002, Journal of medical genetics.

Localization of the Gene Causing Autosomal Dominant Osteopetrosis Type I to Chromosome 11q12‐13

J. Bollerslev, J. Gram, F. Vanhoenacker, 2002, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Screening for genetic variants in BDNF that contribute to childhood obesity

Raoul Rooman, W. Hul, L. V. Van Gaal, 2014, Pediatric obesity.

Copy number variant analysis and expression profiling of the olfactory receptor-rich 11q11 region in obesity predisposition

L. V. Van Gaal, S. Verhulst, W. Van Hul, 2020, Molecular genetics and metabolism reports.

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

L. V. Van Gaal, W. Van Hul, D. Zegers, 2011, Obesity Facts.

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

M. Andersen, K. Brixen, Y. Taes, 2013, Endocrine.

Heterozygous Mutations Causing Partial Prohormone Convertase 1 Deficiency Contribute to Human Obesity

P. Elliott, M. Jarvelin, F. Horber, 2012, Diabetes.

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

L. V. Van Gaal, W. Van Hul, D. Zegers, 2011, Molecular genetics and metabolism.

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

L. V. Van Gaal, W. Van Hul, F. de Freitas, 2011, Molecular genetics and metabolism.

Prevalence of Loss-of-Function FTO Mutations in Lean and Obese Individuals

S. O’Rahilly, F. Horber, B. Balkau, 2009, Diabetes.

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

L. V. Van Gaal, S. Verhulst, W. Van Hul, 2017, Obesity research & clinical practice.

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

C. van Broeckhoven, J. Martín, W. Hul, 1992, Journal of medical genetics.

Hereditary multiple exostoses: from genetics to clinical syndrome and complications.

A. D. De Schepper, W. Wuyts, P. Willems, 2001, European journal of radiology.

Delineation of a new fibrillin-2-opathy with evidence for a role of FBN2 in the pathogenesis of carpal tunnel syndrome

G. Mortier, C. Baldock, E. Fransen, 2020, Journal of Medical Genetics.

Refined physical mapping and genomic structure of the EXTL1 gene

F. Speleman, R. Versteeg, A. De Paepe, 1999, Cytogenetic and Genome Research.

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

W. Wuyts, W. Van Hul, A. Morales-Piga, 2001, Clinical genetics.

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.

E. Fransen, M. Andersen, K. Brixen, 2012, Molecular genetics and metabolism.

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

M. Andersen, K. Brixen, W. Van Hul, 2011, Calcified Tissue International.

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

D. Kiel, A. Hofman, A. Uitterlinden, 2008, JAMA.

A mutation affecting the latency-associated peptide of TGFbeta1 in Camurati-Engelmann disease enhances osteoclast formation in vitro.

S. Ralston, K. Janssens, W. Fraser, 2003, The Journal of clinical endocrinology and metabolism.

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

H. Backhovens, A. Wehnert, C. van Broeckhoven, 1990, Genomics.

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

W. Hul, J. Bollerslev, J. Gram, 2001, American journal of human genetics.

High Bone Mass Disorders: New Insights From Connecting the Clinic and the Bench

D. Kiel, F. Rivadeneira, O. Mäkitie, 2022, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

A multi-omics approach expands the mutational spectrum of MAP2K1-related melorheostosis.

G. Mortier, M. Zillikens, B. V. D. van der Eerden, 2020, Bone.

Sclerosing bone dysplasias.

W. Van Hul, E. Boudin, 2018, Best practice & research. Clinical endocrinology & metabolism.

Sclerosing Bone Dysplasias: Leads Toward Novel Osteoporosis Treatments

G. Mortier, Igor Fijałkowski, W. Van Hul, 2014, Current Osteoporosis Reports.

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

Minrong Ai, M. Warman, B. Williams, 2005, Molecular and Cellular Biology.

Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene.

W. Hul, J. Bollerslev, M. Whyte, 2001, Human molecular genetics.

A targeted multi-omics approach reveals paraoxonase-1 as a determinant of obesity-associated fatty liver disease

K. Laukens, L. V. Van Gaal, A. Tvarijonaviciute, 2021, Clinical epigenetics.

Identification of Sex‐Specific Associations Between Polymorphisms of the Osteoprotegerin Gene, TNFRSF11B, and Paget's Disease of Bone

S. Ralston, E. Fransen, J. Devogelaer, 2007, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Further Evidence for Genetic Heterogeneity Within Type II Autosomal Dominant Osteopetrosis

W. Hul, B. Bénichou, W. Van Hul, 2000, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21.

W. Hul, R. Stokroos, P. Willems, 1998, American journal of human genetics.

Camurati–Engelmann Disease

G. Mortier, F. Vanhoenacker, W. Van Hul, 2019, Calcified Tissue International.

Camurati-engelmann disease: Review of radioclinical features

R. Gershoni-baruch, A. D. De Schepper, K. Janssens, 2003, Acta radiologica.

Transforming Growth Factor-β1 Mutations in Camurati-Engelmann Disease Lead to Increased Signaling by Altering either Activation or Secretion of the Mutant Protein*

S. Ralston, K. Janssens, C. Bergmann, 2003, The Journal of Biological Chemistry.

Localization of the gene for sclerosteosis to the van Buchem disease-gene region on chromosome 17q12-q21.

C. Stratakis, W. Hul, J. van den Ende, 1999, American journal of human genetics.

Novel SOST gene mutation in a sclerosteosis patient and her parents.

A. Arya, S. Bhadada, W. Van Hul, 2013, Bone.

Lessons from Sclerosing Bone Dysplasias

W. Van Hul, 2007, Hormone Research in Paediatrics.

Human genetics of SOST.

W. Van Hul, W. Balemans, 2006, Journal of musculoskeletal & neuronal interactions.

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

K. Lindpaintner, D. Reid, M. Ebeling, 2002, Bone.

Conditional mouse models support the role of SLC39A14 (ZIP14) in Hyperostosis Cranialis Interna and in bone homeostasis

G. Mortier, R. Cousins, R. Stokroos, 2018, PLoS genetics.

D21S215 is a (GT)n polymorphic marker close to centromeric alphoid sequences on chromosome 21.

M. McInnis, A. Chakravarti, S. Antonarakis, 1992, Genomics.

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

K. Janssens, F. Vanhoenacker, W. Van Hul, 2005, Bone.

Paget's Disease of Bone: Evidence for a Susceptibility Locus on Chromosome 18q and for Genetic Heterogeneity

S. Ralston, N. Haites, P. Willems, 1998, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

A Panel-Based Sequencing Analysis of Patients with Paget’s Disease of Bone Suggests Enrichment of Rare Genetic Variation in regulators of NF-κB Signaling and Supports the Importance of the 7q33 Locus

Tycho Canter Cremers, G. Mortier, E. Fransen, 2021, Calcified Tissue International.

Polymorphisms of the CLCN7 Gene Are Associated With BMD in Women

D. Reid, S. Ralston, A. Teti, 2005, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Genomewide search in familial Paget disease of bone shows evidence of genetic heterogeneity with candidate loci on chromosomes 2q36, 10p13, and 5q35.

L. Hocking, S. Ralston, S. Bennett, 2001, American journal of human genetics.

Camurati–Engelmann Disease (Progressive Diaphyseal Dysplasia): Reports of an Indian Kindred

G. Mortier, S. Bhadada, W. Van Hul, 2013, Calcified Tissue International.

Sclerosing bone dysplasias: genetic and radioclinical features

A. D. De Schepper, W. Hul, F. Vanhoenacker, 2000, European Radiology.

Localization of the gene for X-linked calvarial hyperostosis to chromosome Xq27.3-Xqter.

I. Glass, W. Van Hul, V. Borra, 2014, Bone.

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

L. Morris, K. Janssens, F. Vanhoenacker, 2003, Clinical dysmorphology.

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

L. Hocking, S. Ralston, W. Hul, 2000, Bone.

DNA methylation profiling and genomic analysis in 20 children with short stature who were born small-for-gestational age.

K. Devriendt, G. Mortier, Raoul Rooman, 2020, The Journal of clinical endocrinology and metabolism.

Congenital skeletal abnormalities: an introduction to the radiological semiology.

A. D. De Schepper, F. Vanhoenacker, J. Gielen, 2001, European journal of radiology.

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

W. Hul, L. V. Van Gaal, L. Gaal, 2013, Endocrine.

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

M. Andersen, K. Brixen, W. Van Hul, 2013, Molecular Biology Reports.

Camurati-Engelmann Disease Complicated by Hypopituitarism: Management Challenges and Literature Review of Outcomes With Bisphosphonates

S. Bhadada, W. Van Hul, D. Dayal, 2021, AACE clinical case reports.

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

L. V. Van Gaal, P. Peeters, W. Van Hul, 2008, Molecular genetics and metabolism.

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

W. Hul, M. Frost, M. Andersen, 2010, European journal of endocrinology.

Prenatal diagnosis of osteopathia striata with cranial sclerosis

P. Gaucherand, M. Massoud, A. Vasiljevic, 2015, Prenatal diagnosis.

Osteocytic Sclerostin Expression as an Indicator of Altered Bone Turnover

E. Cavalier, P. Evenepoel, W. Van Hul, 2023, Nutrients.

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.

P. Geusens, S. Boonen, J. Devogelaer, 2011, Molecular genetics and metabolism.

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

M. Andersen, K. Brixen, W. Van Hul, 2010, Calcified Tissue International.

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

F. Eyskens, W. Van Hul, W. Courtens, 2007, American journal of medical genetics. Part A.

European Obesity Summit (EOS) – Joint Congress of EASO and IFSO-EC, Gothenburg, Sweden, June 1 – 4, 2016: Abstracts

Parashu Ram Pal, S. A. Todd, Jimmy D Bell, 2016, Obesity Facts.

Association of the BDNF Val66Met variation with obesity in women.

L. V. Van Gaal, W. Van Hul, A. Peeters, 2008, Molecular genetics and metabolism.

This item is the archived peer-reviewed author-version of: Association study of PNPLA2 gene with histological parameters of NAFLD in an obese population

G. Hubens, M. Ruppert, W. Hul, 2022 .

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

G. Mortier, D. Tegay, W. Van Hul, 2013, Bone.

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

G. Mortier, E. Fransen, W. Van Hul, 2019, Calcified Tissue International.

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

L. V. Van Gaal, W. Van Hul, J. K. Van Camp, 2014, Endocrine.

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

W. Van Hul, G. Beyens, 2007, Critical reviews in eukaryotic gene expression.

PCT

A. L. Wong, R. Hegele, A. G. Gittenberger-de Groot, 2019, Springer Reference Medizin.

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

M. Andersen, K. Brixen, Y. Taes, 2012, Molecular genetics and metabolism.

Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment

S. Wientroub, S. Ralston, K. Janssens, 2005, Journal of Medical Genetics.

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

W. Van Hul, 2011, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

A novel mutation in the MSX2 gene in a family with foramina parietalia permagna (FPP)

W. Wuyts, C. D. de Die-Smulders, W. Van Hul, 2005, American journal of medical genetics. Part A.

Camurati-engelmann disease: Review of radioclinical features

R. Gershoni-baruch, A. D. De Schepper, K. Janssens, 2003, Acta radiologica.

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

Daniel L. Koller, D. Kiel, A. Uitterlinden, 2012, Nature Genetics.

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

G. Mortier, S. Mohan, T. Nakashima, 2016, Journal of Medical Genetics.

Pityriasis alba.

A. L. Wong, R. Hegele, A. G. Gittenberger-de Groot, 1986, American journal of diseases of children.

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

Daniel L. Koller, D. Kiel, A. LaCroix, 2012, Nature Genetics.

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

A. Bayat, J. van den Ende, Igor Fijałkowski, 2016, American journal of medical genetics. Part A.

Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia

R. Pauli, M. Warman, W. Hul, 1999, Nature Genetics.

Identification of a Novel Nonsense Variant in the DLL3 Gene Underlying Spondylocostal Dysostosis in a Consanguineous Pakistani Family

G. Mortier, W. Ahmad, W. Van Hul, 2023, Molecular Syndromology.

[Primary central nervous system lymphomas].

James V. Leonard, A. L. Wong, I. Módy, 2010, Vnitrni lekarstvi.

PLEKHM1 regulates Salmonella-containing vacuole biogenesis and infection.

B. Maček, D. Bumann, A. Frangakis, 2015, Cell host & microbe.

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

G. Mortier, Igor Fijałkowski, W. Van Hul, 2017, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

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

E. van Marck, M. Taskinen, G. Hubens, 2015, Journal of Hepatology.

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

Igor Fijałkowski, W. Van Hul, E. Boudin, 2013, Seminars in arthritis and rheumatism.

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.

E. Fransen, M. Andersen, K. Brixen, 2012, Molecular genetics and metabolism.

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

J. Timmermans, A. Teti, A. Villa, 2007, The Journal of clinical investigation.

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

F. Gianfrancesco, S. Ralston, M. Brandi, 2011, Nature Genetics.

[Primary liver cancer].

James V. Leonard, A. L. Wong, I. Módy, 1989, Cancer radiotherapie : journal de la Societe francaise de radiotherapie oncologique.

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

D. Kiel, J. V. van Meurs, J. Ioannidis, 2008, JAMA.