Výsledky vyhledávání

Do commonin silicotools predict the clinical consequences of amino-acid substitutions in the CFTR gene?

Autor: Julian Zielenski, Yuan Xw, T. Nalpathamkalam, Mary Corey, Ruslan Dorfman, LC Tsui, Katherine Keenan, Tanja Gonska, Peter R. Durie, Chelsea Taylor

Publikováno v: Clinical Genetics. 77:464-473

Computational methods are used to predict the molecular consequences of amino-acid substitutions on the basis of evolutionary conservation or protein structure, but their utility in clinical diagnosis or prediction of disease outcome has not been wel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c7c33deb99de1c46392aa0a9431057c
https://doi.org/10.1111/j.1399-0004.2009.01351.x

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A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13

Autor: LC Tsui, S Meyer, S. H.E. Zaidi, A D Paterson, A Lindinger, Ahmad S. Teebi, VD Peltekova, Muhammad Faiyaz-Ul-Haque

Publikováno v: Clinical Genetics. 67:183-188

Arterial tortuosity associated with hyperextensible skin and hypermobility of joints, features that are characteristics of Ehlers-Danlos syndrome (EDS), has been described in several families. An arterial tortuosity locus has recently been mapped to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5b111cba2fe0b4af65e31debd4e53025
https://doi.org/10.1111/j.1399-0004.2004.00391.x

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Fine mapping of the X-linked split-hand/split-foot malformation (SHFM2) locus to a 5.1-Mb region on Xq26.3 and analysis of candidate genes

Autor: Muhammad Faiyaz-Ul-Haque, Wasim Ahmad, Lily King, Daniel H. Cohn, M. Patel, Teepu Siddique, LC Tsui, Sayedul Haque, Mahmud Ahmad, S. H.E. Zaidi

Publikováno v: Clinical Genetics. 67:93-97

Split-hand/split-foot malformation (SHFM) is a genetically heterogeneous disorder, with five known loci, that causes a lack of median digital rays, syndactyly, and aplasia or hypoplasia of the phalanges, metacarpals, and metatarsals. In the only know

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c68dc5c1ffcacce80e52d7de07971f9e
https://doi.org/10.1111/j.1399-0004.2004.00369.x

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Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis)

Autor: Wasim Ahmad, Daniel H. Cohn, Sayedul Haque, S Hussain, Mushtaq Ahmad, S H E Zaidi, Muhammad Faiyaz-Ul-Haque, LC Tsui

Publikováno v: Clinical Genetics. 66:144-151

Multiple hereditary exostoses (HME) is an autosomal dominant developmental disorder exhibiting multiple osteocartilaginous bone tumors that generally arise near the ends of growing long bones. Here, we report two large consanguineous families from Pa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8885c1ddc071be318910586beac1f88d
https://doi.org/10.1111/j.1399-0004.2004.00275.x

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The locus responsible for horizontal gaze palsy/progressive scoliosis and brainstem hypoplasia is refined to a 9-cM region on chromosome 11q23

Autor: Faiyaz-Ul-Haque M, Teebi As, Susan Blaser, Paterson Ad, Brenda Banwell, LC Tsui, Lo B

Publikováno v: Clinical Genetics. 65:137-142

Horizontal gaze palsy associated with progressive scoliosis (HGPS) is a rare autosomal recessive condition that has been recently mapped to a 30-cM region on chromosome 11q23-25. In this report, we describe a consanguineous family in which three of f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::af98d7cd7c6563988641cafdd209730e
https://doi.org/10.1111/j.0009-9163.2004.00201.x

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Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome)

Autor: Wasim Ahmad, Muhammad Faiyaz-Ul-Haque, Mahmud Ahmad, S H E Zaidi, Ahmad S. Teebi, Daniel H. Cohn, LC Tsui, Sayedul Haque

Publikováno v: Clinical Genetics. 61:454-458

The present authors have previously described a consanguineous Pakistani family with fibular hypoplasia and complex brachydactyly (DuPan syndrome) inherited as an autosomal recessive trait. All affected individuals showed either reductions or absence

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1ca952a4659f01ef1ab54037c500dcd3
https://doi.org/10.1034/j.1399-0004.2002.610610.x

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Symposium Session Summaries: Sessions 8.4 to 13.3

Autor: G Kent, Richard Rozmahel, M Corey, P Durie, CK Haston, C Bear, LC Tsui, Nguyen

Publikováno v: Pediatric Pulmonology. 26:125-145

12th Annual North American Cystic Fibrosis Conference. Montreal, Quebec, Canada. October 15-18, 1998

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::81b4e1ff55139e1feaa83f47df96fc62
https://doi.org/10.1002/(sici)1099-0496(199810)26:17+<125::aid-ppul5>3.0.co

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Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism

Autor: Shelley J. Kennedy, Ahmad S. Teebi, LC Tsui, Muhammad Faiyaz-Ul-Haque, Bryan Lo, R. Aviv

Publikováno v: American journal of medical genetics. Part A. (1)

Cherubism is a rare autosomal dominant inherited condition caused by mutations in the c-Abl-binding protein SH3BP2. It is characterized by multiple cystic giant cell lesions of the jaw appearing in early childhood with stabilization and remission aft

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61372232d7f28b96d6df428ccbdf6b19
https://pubmed.ncbi.nlm.nih.gov/12900899

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