Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q

Judith Melki, Sonia Abdelhak, P. Sheth, +22

Nature

Genetic AnalysisGenetic DisorderGeneticsGene CharacterizationMolecular Genetics +4

Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis

Claude Férec, Odile Raguénès, Rémi Salomon, +11

Journal of Medical Genetics

Disruption of a long distance regulatory region upstream of <i>SOX9</i> in isolated disorders of sex development

Sabina Benko, Christopher T. Gordon, Delphine Mallet, +21

Journal of Medical Genetics

Survival of Male Patients with Incontinentia Pigmenti Carrying a Lethal Mutation Can Be Explained by Somatic Mosaicism or Klinefelter Syndrome

Susan Kenwrick, Hayley Woffendin, Tracy Jakins, +21

The American Journal of Human Genetics

InfertilityAndrologyUrologyKlinefelter SyndromeVoiding Dysfunction +10

Expression of the Sonic hedgehog (SHH) Gene during Early Human Development and Phenotypic Expression of New Mutations Causing Holoprosencephaly

Sylvie Odent, Tania Attié‐Bitach, Martine Blayau, +8

Human Molecular Genetics

Human trifunctional protein deficiency: A new disorder of mitochondrial fatty acid β-oridation

Ronald J. A. Wanders, Lodewijk IJlst, F Poggi, +5

Biochemical and Biophysical Research Communications

Metabolic SyndromeMetabolic DisorderMitochondrial FunctionBiochemistryMitochondrial Dynamic +6

Overexpression of FGFR3, Stat1, Stat5 and p21Cip1 correlates with phenotypic severity and defective chondrocyte differentiation in FGFR3-related chondrodysplasias

Laurence Legeai‐Mallet, Catherine Benoist-Lasselin, A Munnich, +1

Bone

Musculoskeletal ResearchDevelopmental BiologyBone Morphogenic ProteinGeneticsPathology +5

Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease.

Anna Pelet, Olivier Geneste, Patrick Edery, +7

Journal of Clinical Investigation

Sporadic HscrSignal TransductionDevelopmental BiologyRet-mediated Signaling DefectsGenetic Disorder +10

Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus

Jean‐Michel Rozet, S. Gerber, Imad Ghazi, +7

Journal of Medical Genetics

Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy.

B. Fournier, Jean Marie Saudubray, Bernard Bénichou, +4

Journal of Clinical Investigation

Metabolic DisorderGeneticsLipid PeroxidationGenetic EpidemiologyMolecular Genetics +17