Alcorn, Joseph L., Merritt, Thomas M., Farach-Carson, Mary C., Wang, Huiqui H., Hecht, Jacqueline T.
Dominant-negative mutations in the homopentameric extracellular matrix glycoprotein cartilage oligomeric matrix protein (COMP) result in inappropriate intracellular retention of misfolded COMP in the...
CRISPLD2: a novel NSCLP candidate gene (2008)
Chiquet, Brett T., Lidral, Andrew C., Stal, Samuel, Mulliken, John B., Moreno, Lina M., Arcos-Burgos, Mauricio, ...
Chiquet, Brett T., Blanton, Susan H., Burt, Amber, Ma, Deqiong, Stal, Samuel, Mulliken, John B., ...
Non-syndromic cleft lip with or without cleft palate (NSCLP) is a common birth defect. Genetic and environmental factors have been causally implicated and studies have begun to delineate genetic...
CRISPLD2: a novel NSCLP candidate gene (2007)
Chiquet, Brett T., Lidral, Andrew C., Stal, Samuel, Mulliken, John B., Moreno, Lina M., Arco-Burgos, Mauricio, ...
Non-syndromic cleft lip with or without cleft palate (NSCLP) results from the complex interaction between genes and environmental factors. Candidate gene analysis and genome scans have been employed...
Genomic Characterization of Human DSPG3 (1999)
Deere, Michelle, Dieguez, Jose L., Yoon, Sung-Joo Kim, Hewett-Emmett, David, De La Chapelle, Albert, Hecht, Jacqueline T.
Localization of the achondroplasia gene to the distal 2. 5 Mb of human chromosome 4p (1994)
Francomano, Clalr A., Hefferon, Timothy W., Bellus, Gary A., Turner, Caria E., Taylor, Eugene, ...
Achondroplasia has been mapped to 4p16. 3 using 18 multigeneratlonal families with achondroplasia and 10 short tandem repeat polymorphic markers from this region. No evidence of genetic heterogeneity...
Genomic Characterization of Human DSPG3
Deere, Michelle, Dieguez, Jose L., Yoon, Sung-Joo Kim, Hewett-Emmett, David, De La Chapelle, Albert, Hecht, Jacqueline T.
DSPG3, the human homolog to chick PG-Lb, is a member of the small leucine-rich repeat proteoglycan (SLRP) family, including decorin, biglycan, fibromodulin, and lumican. In contrast to the tissue...
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...
Genomic Characterization of Human DSPG3
Deere, Michelle, Dieguez, Jose L., Yoon, Sung-Joo Kim, Hewett-Emmett, David, De La Chapelle, Albert, Hecht, Jacqueline T.
DSPG3, the human homolog to chick PG-Lb, is a member of the small leucine-rich repeat proteoglycan (SLRP) family, including decorin, biglycan, fibromodulin, and lumican. In contrast to the tissue...
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...
Refinement of the Multiple Exostoses Locus (EXT2) to a 3-cM Interval on Chromosome 11
Wuyts, Wim, Ramlakhan, Sarvan, Van Hul, Wim, Hecht, Jacqueline T., Raskind, Wendy H., ...
Hereditary multiple exostoses (EXT) is an autosomal dominant skeletal disorder characterized by the formation of multiple exostoses on the long bones. EXT is genetically heterogeneous, with at least...
Merritt, Thomas M., Bick, Roger, Poindexter, Brian J., Alcorn, Joseph L., Hecht, Jacqueline T.
Mutations in cartilage oligomeric matrix protein (COMP) cause two skeletal dysplasias, pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED/EDM1). Because COMP exists as a...
Posey, Karen L., Hankenson, Kurt, Veerisetty, Alka C., Bornstein, Paul, Lawler, Jack, Hecht, Jacqueline T.
Thrombospondin-5 (TSP5) is a large extracellular matrix glycoprotein found in musculoskeletal tissues. TSP5 mutations cause two skeletal dysplasias, pseudoachondroplasia and multiple epiphyseal...
Asymmetric Lower-Limb Malformations in Individuals with Homeobox PITX1 Gene Mutation
Gurnett, Christina A., Alaee, Farhang, Kruse, Lisa M., Desruisseau, David M., Hecht, Jacqueline T., Wise, Carol A., ...
Clubfoot is one of the most common severe musculoskeletal birth defects, with a worldwide incidence of 1 in 1000 live births. In the present study, we describe a five-generation family with...
Alcorn, Joseph L., Merritt, Thomas M., Farach-Carson, Mary C., Wang, Huiqui H., Hecht, Jacqueline T.
Dominant-negative mutations in the homopentameric extracellular matrix glycoprotein cartilage oligomeric matrix protein (COMP) result in inappropriate intracellular retention of misfolded COMP in the...