Lack of evidence of WNT3Aas a candidate gene for congenital vertebral malformations (2007)
Ghebranious, Nader, Raggio, Cathleen L, Blank, Robert D, McPherson, Elizabeth, Burmester, James K, Ivacic, Lynn, ...
Abstract Background Prior investigations have not identified a major locus for vertebral malformations, providing evidence that there is genetic heterogeneity for this condition. WNT3A has recently...
Bartels,Cynthia F., Bükülmez,Hülya, Padayatti,Pius, Rhee,David K., Van Ravenswaaij-Arts,Conny, Pauli,Richard M., ...
The homodimeric transmembrane receptor natriuretic peptide receptor B (NPR-B [also known as guanylate cyclase B, GC-B, and GUC2B]; gene name NPR2) produces cytoplasmic cyclic GMP from GTP on binding...
Bartels, Cynthia F., Bükülmez, Hülya, Padayatti, Pius, Rhee, David K., Pauli, Richard M., ...
The homodimeric transmembrane receptor natriuretic peptide receptor B (NPR-B [also known as guanylate cyclase B, GC-B, and GUC2B]; gene name NPR2) produces cytoplasmic cyclic GMP from GTP on binding...
Bartels, Cynthia F., B K Lmez, H Lya, Padayatti, Pius, Rhee, David K., Pauli, Richard M., ...
The homodimeric transmembrane receptor natriuretic peptide receptor B (NPR-B [also known as guanylate cyclase B, GC-B, and GUC2B]; gene name NPR2) produces cytoplasmic cyclic GMP from GTP on binding...
Melkoniemi, Miia, Brunner, Han G., Manouvrier, Sylvie, Hennekam, Raoul, Superti-Furga, Andrea, K Ri Inen, Helena, ...
Otospondylomegaepiphyseal dysplasia (OSMED) is an autosomal recessive skeletal dysplasia accompanied by severe hearing loss. The phenotype overlaps that of the autosomal dominant disorders-Stickler...
Detection of Chromosomal Aberrations by a Whole-Genome Microsatellite Screen
Rosenberg, Marjorie J., Vaske, David, Killoran, Christina E., Ning, Yi, Wargowski, David, Hudgins, Louanne, ...
Chromosomal aberrations are a common cause of multiple anomaly syndromes that include developmental and growth retardation. Current microscopic techniques are useful for the detection of such...
Genetic heterogeneity in families with hereditary multiple exostoses
Cook, April, Raskind, Wendy, Blanton, Susan Halloran, Pauli, Richard M., Gregg, Ronald G., Francomano, Claire A., ...
We have carried out a linkage analysis on 11 families segregating gene(s) for hereditary multiple exostoses (EXT). Four highly informative, short tandem-repeat (STR) markers that have been physically...
Bartels, Cynthia F., Bükülmez, Hülya, Padayatti, Pius, Rhee, David K., Van Ravenswaaij-Arts, Conny, Pauli, Richard M., ...
The homodimeric transmembrane receptor natriuretic peptide receptor B (NPR-B [also known as guanylate cyclase B, GC-B, and GUC2B]; gene name NPR2) produces cytoplasmic cyclic GMP from GTP on binding...
Detection of Chromosomal Aberrations by a Whole-Genome Microsatellite Screen
Rosenberg, Marjorie J., Vaske, David, Killoran, Christina E., Ning, Yi, Wargowski, David, Hudgins, Louanne, ...
Chromosomal aberrations are a common cause of multiple anomaly syndromes that include developmental and growth retardation. Current microscopic techniques are useful for the detection of such...
Genetic heterogeneity in families with hereditary multiple exostoses
Cook, April, Raskind, Wendy, Blanton, Susan Halloran, Pauli, Richard M., Gregg, Ronald G., Francomano, Claire A., ...
We have carried out a linkage analysis on 11 families segregating gene(s) for hereditary multiple exostoses (EXT). Four highly informative, short tandem-repeat (STR) markers that have been physically...