Výsledky vyhledávání - "Chad T. Morgan"

Absence of mutations in NR2E1 and SNX3in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes

Autor: Charles E. Schwartz, Ravinesh A. Kumar, Anne Slavotinek, Chad T. Morgan, Elizabeth M. Simpson, David B. Everman

Publikováno v: BMC Medical Genetics
BMC Medical Genetics, Vol 8, Iss 1, p 48 (2007)

Background A disruption of sorting nexin 3 (SNX3) on 6q21 was previously reported in a patient with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and t(6;13)(q21;q12) but no SNX3 mutations were identified in another sporadic case

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa805b9147858c516c4ab32e1e01a0b1
https://doi.org/10.1186/1471-2350-8-48

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Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation

Autor: Chad T. Morgan, David B. Everman, Michael J. Bamshad, Jacquelyn Roberson, Charles E. Schwartz, Randall S. Colby, Connie Schrander-Stumpel, Mary E. Laughridge, Stylianos E. Antonarakis, Hans van Bokhoven, Fiorella Gurrieri, Katie Clarkson, Robert Lyle, A. Micheil Innes

Publikováno v: American Journal of Medical Genetics. Part A, 140, 1375-83
American Journal of Medical Genetics. Part A, 140, 13, pp. 1375-83
American Journal of Medical Genetics. A, Vol. 140, No 13 (2006) pp. 1375-1383

Contains fulltext : 50290.pdf (Publisher’s version ) (Closed access) Split-hand/foot malformation (SHFM), or ectrodactyly, is characterized by underdeveloped or absent central digital rays, clefts of the hands and feet, and variable syndactyly of t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48210188525b3cbfad36699b6934f134
http://hdl.handle.net/2066/50290

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P63 mutations are not a major cause of non-syndromic split hand/foot malformation

Autor: Arthur S. Aylsworth, David B. Everman, Chad T. Morgan, R. C. Rogers, John M. Graham, Charles E. Schwartz, R S Colby, X J de Mollerat, Katie Clarkson, Roger E. Stevenson

Publikováno v: Journal of medical genetics. 40(1)

Ectrodactyly or split hand/foot malformation (SHFM) is a human limb malformation characterised by underdevelopment or absence of the central digital rays and variable fusion of the remaining digits (MIM 183600). This condition occurs in 1 in 8500–2

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::390fc1a1d92e4e15b8acd1ccd2e5d88f
https://pubmed.ncbi.nlm.nih.gov/12525544

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