Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome

Craig T. Basson, David R. Bachinsky, Robert C. Lin, +11

Nature Genetics

Developmental AnomalyCardiac MalformationDevelopmental BiologyHuman Cause LimbGenetic Disorder +7

Mutations in the human Ca2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

Martin R. Pollak, Edward M. Brown, Yah‐Huei Wu Chou, +6

Cell

GeneticsPhysiologyNeonatal Severe HyperparathyroidismParathyroid HormoneParathyroid Disease +2

Characteristics and Prognostic Implications of Myosin Missense Mutations in Familial Hypertrophic Cardiomyopathy

Hugh Watkins, Anthony Rosenzweig, Dar‐San Hwang, +4

New England Journal of Medicine

Mapping a Gene for Familial Hypertrophic Cardiomyopathy to Chromosome 14q1

John A. Jarcho, William J. McKenna, Jean-Pierre Pare, +7

New England Journal of Medicine

Chamber-Specific Cardiac Expression of Tbx5 and Heart Defects in Holt–Oram Syndrome

Benoit G. Bruneau, Malcolm Logan, Tatjana Levi, +3

Developmental Biology

Heart DefectsHeart FailureStructural Heart DiseasePathologyChamber-specific Cardiac Expression +6

Cloning, Expression, and Chromosomal Location of SHH and IHH: Two Human Homologues of the Drosophila Segment Polarity Gene Hedgehog

Valeria Marigo, Drucilla J. Roberts, Scott M. K. Lee, +11

Genomics

BiologyChromatinDevelopmental BiologyChromosomal LocationHuman Homologues +8

Fine-Structure Mapping of the Hereditary Inclusion Body Myopathy Locus

Iris Eisenberg, Corinna Thiel, Tatjana Levi, +6

Genomics

Genetic DisorderMedicineGeneticsPathologyMolecular Genetics +2

Cloning and characterization of a novel human gene RNF38 encoding a conserved putative protein with a RING finger domain

Iris Eisenberg, Hagit Hochner, Tatjana Levi, +3

Biochemical and Biophysical Research Communications

Physical and transcriptional map of the hereditary inclusion body myopathy locus on chromosome 9p12-p13

Iris Eisenberg, Hagit Hochner, Moshe Shemesh, +6

European Journal of Human Genetics

ChromatinMendelian DisorderGenetic DisorderGeneticsPathology +7