Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

Newbury-Ecob Ra, David I. Wilson, T Strachan, +4

Nature Genetics

Developmental AnomalyGenetic DisorderGeneticsPathogenesisPathology +4

A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity.

D. Gareth Evans, Susan Huson, Dian Donnai, +6

Journal of Medical Genetics

Neuro-oncologyMendelian DisorderGenetic DisorderVestibular SchwannomaClinical Genetics +12

Keratin 16 and keratin 17 mutations cause pachyonychia congenita

W.H. Irwin McLean, E.L. Rugg, Declan P. Lunny, +12

Nature Genetics

Inborn Error Of ImmunityAllergyKeratin 16Genetic Disorder

SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development

Neil A. Hanley, D.M. Hagan, Mark Clement-Jones, +9

Mechanisms of Development

Developmental BiologyGerm Cell FateSex DeterminationDevelopmental GeneticsGenetics +10

Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations.

D. Gareth Evans, L. Trueman, Andrew J. Wallace, +2

Journal of Medical Genetics

A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p

T Strachan, Sharon Keers, I. Mahjneh, +3

Human Molecular Genetics

Expression of steroidogenic factor 1 and Wilms' tumour 1 during early human gonadal development and sex determination

Neil A. Hanley, Steve Ball, Mark Clement-Jones, +7

Mechanisms of Development

InfertilityDevelopmental BiologySex DeterminationHormonal ReceptorGenetics +9

A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling.

D. Gareth Evans, Susan Huson, Dian Donnai, +5

Journal of Medical Genetics

PathologyNeurotologyUnited KingdomDermatologyNeuromas +18

Complete nucleotide sequence of a gene encoding a functional human class I histocompatibility antigen (HLA-CW3).

R. Sodoyer, M. Damotte, T L Delovitch, +3

The EMBO Journal

HistocompatibilityHlaImmunogeneticsHuman Leukocyte AntigenGenetics +10

ATP2A2 Mutations in Darier's Disease: Variant Cutaneous Phenotypes Are Associated with Missense Mutations, But Neuropsychiatry Features Are Independent of Mutation Class

Víctor L. Ruiz‐Pérez, S. A. Carter, Eugene Healy, +14

Human Molecular Genetics