Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly

Elena Belloni, Maximilian Muenke, Erich Roessler, +13

Nature Genetics

Knockout MouseDevelopmental BiologyGeneticsMorphogenesisMedicine +3

High-resolution mapping of mammalian genes by in situ hybridization to free chromatin.

Henry H. Heng, Jeremy A. Squire, L.-C. Tsui

Proceedings of the National Academy of Sciences

GeneticsMolecular BiologyMolecular GeneticsGenomicsEpigenetics +23

Genetic determination of exocrine pancreatic function in cystic fibrosis.

Peter Kristidis, Dominique Bozon, Mary Corey, +4

PubMed

Localization of the gene encoding the α₂/δ-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families

David Iles, F. Lehmann‐Horn, Stephen W. Scherer, +10

Human Molecular Genetics

Muscle FunctionSignal TransductionMolecular PhysiologySkeletal MuscleGenetic Disorder +12

Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe

Thilo Dörk, Milan Maçek, Frauke Mekus, +64

Human Genetics

FibrosisMendelian DisorderGenetic DisorderMedicineGenetics +9

In Situ Detection of β-Galactosidase in Lenses of Transgenic Mice with a γ-Crystallin/ <i>lacZ</i> Gene

Daphne R. Goring, Janet Rossant, Susan Clapoff, +2

Science

Ocular DiseaseGeneticsMolecular BiologyGene CharacterizationMolecular Genetics +18

DNA marker haplotype association with pancreatic sufficiency in cystic fibrosis.

Batsheva Kerem, Janet A. Buchanan, Peter R. Durie, +5

PubMed

Regulation of meiotic chromatin loop size by chromosomal position.

Henry H. Heng, J W Chamberlain, X.-M. Shi, +2

Proceedings of the National Academy of Sciences

GeneticsEpigeneticsChromosomal PositionCell DivisionMeiosis +16

Gamma-crystallins of the human eye lens: expression analysis of five members of the gene family.

Susan O. Meakin, Runsheng Du, L.-C. Tsui, +1

Molecular and Cellular Biology

Expression AnalysisPromoter ActivityProtein ExpressionOphthalmologyNatural Sciences +12

Germline and Somatic Mutations in the Tyrosine Kinase Domain of the MET Proto-Oncogene in Papillary Renal Carcinomas

Laura S. Schmidt, F M Duh, F. Chen, +32

The Journal of Urology