Zobrazeno 1 - 10
of 10
pro vyhledávání: '"G. V. Raymond"'
Autor:
R, Webster, M T, Cho, K, Retterer, F, Millan, C, Nowak, J, Douglas, A, Ahmad, G V, Raymond, M R, Johnson, A, Pujol, A, Begtrup, D, McKnight, O, Devinsky, W K, Chung
Publikováno v:
Clinical genetics. 91(5)
Intellectual disability (ID) affects about 3% of the population and has a male gender bias. Of at least 700 genes currently linked to ID, more than 100 have been identified on the X chromosome, including KIAA2022. KIAA2022 is located on Xq13.3 and is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::070ff9271c130a742ed8be39c127973c
https://pubmed.ncbi.nlm.nih.gov/27568816
https://pubmed.ncbi.nlm.nih.gov/27568816
Autor:
T H, Beaty, N E, Maestri, J B, Hetmanski, D F, Wyszynski, C A, Vanderkolk, J C, Simpson, I, McIntosh, E A, Smith, J S, Zeiger, G V, Raymond, S R, Panny, C J, Tifft, A F, Lewanda, C A, Cristion, E A, Wulfsberg
Publikováno v:
The Cleft Palate-Craniofacial Journal. 34:447-454
Objective: Infants born in Maryland between June 1992 and June 1996 were used in a case-control study of nonsyndromic oral clefts to test for effects of maternal smoking and a polymorphic genetic marker at the transforming growth factor alpha (TGFA)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f36ddb80b764d8e742d6c2cef08c38a1
https://doi.org/10.1597/1545-1569_1997_034_0447_tfibms_2.3.co_2
https://doi.org/10.1597/1545-1569_1997_034_0447_tfibms_2.3.co_2
Autor:
Minnie Abromowitch, Andrea Poretti, G. Deib, Kenneth J. Cohen, T.A.G.M. Huisman, G. V. Raymond, Avner Meoded
Publikováno v:
JIMD Reports ISBN: 9783642247576
X-linked adreno-leukodystrophy (ALD) is a peroxisomal disorder affecting the white matter of the central nervous system and the adrenal cortex. It is caused by mutations in the ABCD1 gene encoding for a peroxisomal membrane protein. The absent genoty
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26703506b7fd7b8228578a9bb0d097b7
https://doi.org/10.1007/8904_2011_39
https://doi.org/10.1007/8904_2011_39
Autor:
L, Bezman, A B, Moser, G V, Raymond, P, Rinaldo, P A, Watkins, K D, Smith, N E, Kass, H W, Moser
Publikováno v:
Annals of neurology. 49(4)
Utilizing the plasma very long chain fatty acid assay, supplemented by mutation analysis and immunofluorescence assay, we determined the number of X-linked adrenoleukodystrophy (X-ALD) hemizygotes from the United States identified each year in the tw
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c092f9b81feadfc8d13fa0928d6eb07c
https://pubmed.ncbi.nlm.nih.gov/11310629
https://pubmed.ncbi.nlm.nih.gov/11310629
Autor:
D E, Williard, J O, Nwankwo, T L, Kaduce, S D, Harmon, M, Irons, H W, Moser, G V, Raymond, A A, Spector
Publikováno v:
Journal of lipid research. 42(4)
Polyunsaturated fatty acid (PUFA) utilization was investigated in skin fibroblasts cultured from a female patient with an inherited abnormality in lipid metabolism. These deficient human skin fibroblasts (DF) converted 85;-95% less [1-14C]linoleic ac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::85f67cad715d06202a9176d34da68226
https://pubmed.ncbi.nlm.nih.gov/11290821
https://pubmed.ncbi.nlm.nih.gov/11290821
Autor:
B R, Migeon, M, Ausems, J, Giltay, C, Hasley-Royster, E, Kazi, T J, Lydon, J J, Engelen, G V, Raymond
Publikováno v:
American journal of medical genetics. 93(1)
Mental retardation and congenital malformations in individuals with small ring X chromosomes are often due to the functional disomy that results from failure of these chromosomes to undergo X inactivation. Such chromosomes either lack the XIST locus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::42da1d0ba23aa698521f4bd19540019f
https://pubmed.ncbi.nlm.nih.gov/10861682
https://pubmed.ncbi.nlm.nih.gov/10861682
Publikováno v:
American journal of medical genetics. 90(4)
Schimke immunoosseous dysplasia (SID) is a rare, pleiotropic disorder compromising spondyloepiphyseal dysplasia, nephrotic syndrome, defective T-cell-mediated immunity, and vascular changes which can lead to cerebral infarcts. The cause is unknown bu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b416744fb6bdafe60eafdf705585f0a6
https://pubmed.ncbi.nlm.nih.gov/10710226
https://pubmed.ncbi.nlm.nih.gov/10710226
Publikováno v:
Neurochemical research. 24(2)
The demonstration of abnormal levels of fatty acids or plasmalogens in plasma or red blood cells is key to the diagnosis of peroxisomal disorders. We report the levels of 62 fatty acids and plasmalogens in patients with X-linked adrenoleukodystrophy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8a154eed9c3a1e17c6abc4f07d4867da
https://pubmed.ncbi.nlm.nih.gov/9972864
https://pubmed.ncbi.nlm.nih.gov/9972864
Publikováno v:
Annals of neurology. 45(1)
The assay of plasma very long chain fatty acids (VLCFAs), developed in our laboratory in 1981, has become the most widely used procedure for the diagnosis of X-linked adrenoleukodystrophy (X-ALD) and other peroxisomal disorders. We present here our 1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bebbef4b62ff4780407e6db0a0fa7aef
https://pubmed.ncbi.nlm.nih.gov/9894883
https://pubmed.ncbi.nlm.nih.gov/9894883