Double inactivation of NF1 in tibial pseudarthrosis
Article Abstract:
Prospectively acquired tissue from the pseudarthrosis (PA) site of two individuals with neurofibromatosis type 1 (NF1) is used for immunohistochemical characterization and genotype analysis of the NF1 locus. Genotype analysis of PA tissue with the use of four genetic markers spanning the NF1 locus demonstrates loss of heterozygosity.
author: Stevenson, David A., Zhou, Holly, Ashrafi, Shadi, Messiaen, Ludwine M., Carey, John C., DEAstous, Jacques L., Santora, Stephen D., Viskochil, David H.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2006
Alabama, Diagnosis, Observations, Neurofibromatosis, Allelomorphism, Alleles, Radiography, Medical, Medical radiography
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders
Article Abstract:
Comprehensive CEP290-mutation analysis is performed on nonoverlapping cohorts of Joubert syndrome-related disorder (JSRD)-affected patients with a proven molar tooth sign (MTS). The results have indicated that CEP290 mutations are frequently encountered and are largely specific to the JSRD-Senior-Loken syndrome (SLS) subtype.
author: Kayserili, Hulya, Dallapiccola, Bruno, Hennekam, Raoul C., Fazzi, Elisa, Viskochil, David H., Al-Gazali, Lihadh, Valente, Enza Maria, Romano, Stephane, Brancati, Francesco, Zablocka, Dominika, Amorini, Maria, Silhavy, Jennifer L., Bielas, Stephanie L., Travaglini, Lorena, Marsh, Sarah E., Barrano, Giudeppe, Bertini, Enrico, Bolthauser, Eugen, D'Hooge, Marc, Fenerci, Elif Y., Kiss, Andrea, Lees, Melissa M., Marco, Elysa, Phadke, Shubha R., Rigoli, Luciana, Sztriha, Laszlo, Stuart, Bernard, Stromme, Petter, Signorini, Sabrina, Sherr, Elliott H., Salpietro, Carmelo D., Yuksel, Adnan, Gleeson, Joseph G.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
United States, Gene mutations, Gene mutation, Joubert syndrome
A novel mutations in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome
Article Abstract:
The locus causing a novel disorder characterized by camptodactyly, tall stature, scoliosis and hearing loss to chromosome 4p is mapped. Findings indicate that abnormal fibroblast growth factor receptor 3 can cause human anomalies by promoting as well as inhibiting endochondrial bone growth.
author: Jorde, Lynn B., Whitby, Frank G., Bamshad, Michael J., Carey, John C., Viskochil, David H., Toydemir, Reha M., Brassington, Anna E., Bayrak-Toydemir, Pinar, Krakowiak, Patrycja A., Longo, Nicola
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2006
Causes of, Genetic aspects, Chromosomes, Hearing loss, Fibroblast growth factors, Scoliosis
subjects list: Research, Clinical report
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