Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Robert Morell"'
Autor:
Robert Morell, Wadih M. Zein, Carmen C. Brewer, Andrew J. Griffith, Julie M. Schultz, Kelly A. King, Christopher K. Zalewski, Thomas B. Friedman, Julie A. Muskett, Rizwan Yousaf, Talah T Wafa, Rabia Faridi, Amy Turriff, Ekaterini Tsilo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7663b036a019d8b7da9a904659dd7b9e
https://doi.org/10.1111/cge.13868/v2/response1
https://doi.org/10.1111/cge.13868/v2/response1
Autor:
Robert Morell
Publikováno v:
American Journal of Sociology. 112:333-336
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::57155215d6b4dda6918ba789f2b8213e
https://doi.org/10.1086/507814
https://doi.org/10.1086/507814
Autor:
L. Ho, Richard A. Spritz, Robert Morell, Thomas B. Friedman, James H. Asher, J. Pierpont, W. Guo
Publikováno v:
Human Molecular Genetics. 6:659-664
Waardenburg syndrome (WS) is a clinically and genetically heterogeneous disease accounting for >2% of the congenitally deaf population. It is characterized by deafness in association with pigmentary anomalies and various defects of neural crest-deriv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fe7a355cec18042df4a41744a13c185
https://doi.org/10.1093/hmg/6.5.659
https://doi.org/10.1093/hmg/6.5.659
Publikováno v:
Human Heredity. 47:38-41
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=doi_________::584f9e9f484d12f1c618671a3571b627
https://doi.org/10.1159/000154387
https://doi.org/10.1159/000154387
Publikováno v:
Genomics. 34:285-298
Waardenburg syndrome type 1 is caused by mutations in PAX3. Over 50 human PAX3 mutations that lead to hearing, craniofacial, limb, and pigmentation anomalies have been identified. A PAX3 mutant allele, segregating in a family, can show reduced penetr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6886ae5dae2488a7ec417d35a6cfa54
https://doi.org/10.1006/geno.1996.0289
https://doi.org/10.1006/geno.1996.0289
Publikováno v:
Human Mutation. 7:30-35
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::74bcf57eb86aa55fd43889399e2d460f
https://doi.org/10.1002/(sici)1098-1004(1996)7:1<30::aid-humu4>3.3.co
https://doi.org/10.1002/(sici)1098-1004(1996)7:1<30::aid-humu4>3.3.co
Publikováno v:
Human Mutation. 7:30-35
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=doi_________::eee7589842b6e5c15cd571c08fc288dd
https://doi.org/10.1002/(sici)1098-1004(1996)7:1<30::aid-humu4>3.0.co
https://doi.org/10.1002/(sici)1098-1004(1996)7:1<30::aid-humu4>3.0.co
Autor:
Sunaryana Winata, Yong Liang, I. Nyomen Arhya, Robert Morell, John T. Hinnant, James H. Asher, James L. Weber, Thomas B. Friedman
Publikováno v:
Human Molecular Genetics. 4:85-91
Genotypes for 53 short tandem repeat (STR) markers distributed at an average of 39 cM intervals throughout the genome were determined for 46 individuals from the village of Bengkala, Bali. This village of approximately 2200 individuals has an oral an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cc45de3b2f972fb823e8df998d11e67
https://doi.org/10.1093/hmg/4.1.85
https://doi.org/10.1093/hmg/4.1.85
Publikováno v:
Human Molecular Genetics. 1:243-247
Waardenburg syndrome type 1 (WS1) is an autosomal dominant disorder characterized by deafness, dystopia canthorum, heterochromia iridis, white forelock, and premature greying. A similar phenotype is caused in the mouse by mutations in the Pax-3 gene.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7dbfcdfdded1c40a6fe659711a7a2851
https://doi.org/10.1093/hmg/1.4.243
https://doi.org/10.1093/hmg/1.4.243