Zobrazeno 1 - 8
of 8
pro vyhledávání: '"J H, Asher"'
Publikováno v:
Laboratory animal science. 49(2)
The anophthalmic white (Wh) gene in Golden Syrian hamsters (Mesocricetus auratus) is autosomal semi-dominant and causes several developmental defects, including hearing loss. The Wh mutation is thought to be homologous to Waardenburg syndrome in huma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a912bc6805a57ed430a6b23aaafc3f4e
https://pubmed.ncbi.nlm.nih.gov/10331547
https://pubmed.ncbi.nlm.nih.gov/10331547
Autor:
J W, Innis, J H, Asher, Y, Liang, A, Wang, C M, Wilke, H A, Dierick, K, Kazen-Gillespie, S, Sheldon, T W, Glover, T B, Friedman
Publikováno v:
American journal of medical genetics. 71(3)
Cleidocranial dysplasia (CCD) is an autosomal dominant, generalized skeletal dysplasia in humans that has been mapped to the short arm of chromosome 6. We report linkage of a CCD mutation to 6p21 in a large family and exclude the bone morphogenetic p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::49ec471aca5157cbe531fdffcb9b4f6d
https://pubmed.ncbi.nlm.nih.gov/9268099
https://pubmed.ncbi.nlm.nih.gov/9268099
Publikováno v:
American journal of medical genetics. 71(2)
We describe a family segregating an autosomal dominant mutation producing a syndrome comprising microcephaly with normal intelligence and short palpebral fissures together with variable signs including thumb hypoplasia, shortness of the middle phalan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::07bc013af9baea60f839686febd56087
https://pubmed.ncbi.nlm.nih.gov/9217213
https://pubmed.ncbi.nlm.nih.gov/9217213
Publikováno v:
Human heredity. 47(1)
Genomic DNA from probands of various Waardenburg syndrome (WS) families were PCR-amplified using primers flanking the 8 exons of PAX3. The PCR fragments were screened for sequence variants, and subsequently cycle sequenced. Mutations were detected in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6934c872dc546526623c47bc6d007e04
https://pubmed.ncbi.nlm.nih.gov/9017978
https://pubmed.ncbi.nlm.nih.gov/9017978
Publikováno v:
Human mutation. 7(1)
Craniofacial-deafness-hand syndrome (MIM 122880) is inherited as an autosomal dominant mutation characterized by the absence or hypoplasia of the nasal bones, profound sensorineural deafness, a small and short nose with slitlike nares, hypertelorism,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4a95c1cb8ac05684f606ea1294efc557
https://pubmed.ncbi.nlm.nih.gov/8664898
https://pubmed.ncbi.nlm.nih.gov/8664898
Autor:
J H Asher, T B Friedman
Four different Waardenburg syndromes have been defined based upon observed phenotypes. These syndromes are responsible for approximately 2% of subjects with profound congenital hearing loss. At present, Waardenburg syndromes have not been mapped to p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc4a5dbf2b6d6ce47092507328c0d4ad
https://europepmc.org/articles/PMC1017240/
https://europepmc.org/articles/PMC1017240/
Publikováno v:
Journal of Phytopathology. 107:298-300
Seven isolates of tobacco ringspot virus (TRSV) from grape, cherry, two cultivars of blueberry, tobacco, soybean and watermelon were compared in this study. The most virulent isolate was from‘Jersey’blueberry and the least virulent isolate was fr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::35ddca875bf41e0c660890a744a8ed9d
https://doi.org/10.1111/j.1439-0434.1983.tb00548.x
https://doi.org/10.1111/j.1439-0434.1983.tb00548.x
Publikováno v:
The Journal of heredity. 65(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cc1543563dd38881af4079be51f42384
https://pubmed.ncbi.nlm.nih.gov/4436538
https://pubmed.ncbi.nlm.nih.gov/4436538