Prevalence and Evolutionary Origins of the del(GJB6-D13S1830) Mutation in the DFNB1 Locus in Hearing-Impaired Subjects: a Multicenter Study

Ignacio del Castillo, Miguel A. Moreno‐Pelayo, Francisco Castillo, +25

The American Journal of Human Genetics

Genetic DisorderGeneticsGenetic EpidemiologyAudiologyEvolutionary Origins +7

Mutations in the EXT1 and EXT2 Genes in Hereditary Multiple Exostoses

Wim Wuyts, Wim Van Hul, Kristel De Boulle, +12

The American Journal of Human Genetics

BiologyGenetic DisorderNatural SciencesGeneticsExt2 Genes +5

Positional cloning of a gene involved in hereditary multiple exostoses

Wim Wuyts

Human Molecular Genetics

BiologyMultiple ExostosesGenetic DisorderNatural SciencesGenetics +12

EXT-Mutation Analysis and Loss of Heterozygosity in Sporadic and Hereditary Osteochondromas and Secondary Chondrosarcomas

Judith V.M.G. Bovée, Anne‐Marie Cleton‐Jansen, Wim Wuyts, +6

The American Journal of Human Genetics

Hereditary OsteochondromasMendelian DisorderSecondary ChondrosarcomasGenetic DisorderGenetics +6

Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome

Margot E. Bowen, Eric D. Boyden, Ingrid A. Holm, +25

PLoS Genetics

Multiple Enchondromatosis SyndromesGeneticsPathologyMolecular GeneticsDisease Gene Identification +15

Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses

Stefan J. White, Geraldine R. Vink, Marjolein Kriek, +4

Human Mutation

Genotype-Phenotype Correlation Study in 529 Patients with Multiple Hereditary Exostoses: Identification of “Protective” and “Risk” Factors

Elena Pedrini, Ivy Jennes, Morena Tremosini, +10

Journal of Bone and Joint Surgery

Identification of a Third EXT-like Gene (EXTL3) Belonging to the EXT Gene Family

Wim Van Hul, Wim Wuyts, Jan Hendrickx, +6

Genomics

Genetic DisorderNatural SciencesGeneticsGenome StructureMolecular Biology +9

Recurrent Mutation in the First Zinc Finger of the Orphan Nuclear Receptor NR2E3 Causes Autosomal Dominant Retinitis Pigmentosa

Frauke Coppieters, Bart P. Leroy, Diane Beysen, +7

The American Journal of Human Genetics

Recurrent MutationFirst Zinc FingerGenetic DisorderGeneticsMolecular Genetics +2

tRNA Methyltransferase Homolog Gene TRMT10A Mutation in Young Onset Diabetes and Primary Microcephaly in Humans

Mariana Igoillo‐Esteve, Anne Genin, Nelle Lambert, +16

PLoS Genetics