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Results 1-10 of 31 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2004
TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation
Christophe-Hobertus, C.
;
Kooy, F.
;
Gecz, J.
;
Abramowicz, M.
;
Holinski-Feder, E.
;
Schwartz, C.
;
Christophe, D.
2000
New mutations in MID1 provide support for loss of function as the cause of X-linked Optiz syndrome
Cox, T.
;
Allen, L.
;
Cox, L.
;
Hopwood, B.
;
Goodwin, B.
;
Haan, E.
;
Suthers, G.
2004
De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency
McFarland, R.
;
Kirby, D.
;
Fowler, K.
;
Ohtake, A.
;
Ryan, M.
;
Amor, D.
;
Fletcher, J.
;
Dixon, J.
;
Collins, F.
;
Turnbull, D.
;
Taylor, R.
;
Thorburn, A.
2007
Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a marfanoid habitus
Raymond, F.
;
Tarpey, P.
;
Edkins, S.
;
Tofts, C.
;
O'Meara, S.
;
Teague, J.
;
Butler, A.
;
Stevens, C.
;
Barthorpe, S.
;
Buck, G.
;
Cole, J.
;
Dicks, E.
;
Gray, K.
;
Harrison, R.
;
Hills, K.
;
Hinton, J.
;
Jones, D.
;
Menzies, A.
;
Perry, J.
;
Raine, K.
;
et al.
2005
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey Disease) expands the spectrum of collagen-related disorders
Gensure, R.
;
Makitie, O.
;
Barclay, C.
;
Chan, C.
;
DePalma, S.
;
Bastepe, M.
;
Abuzahra, H.
;
Couper, R.
;
Mundlos, S.
;
Sillence, D.
;
Kokko, L.
;
Seidman, J.
;
Cole, W.
;
Juppner, H.
2005
XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene
Stepp, M.
;
Cason, A.
;
Finnis, M.
;
Mangelsdorf, M.
;
Holinski-Feder, E.
;
Macgregor, D.
;
MacMillan, A.
;
Holden, J.
;
Gecz, J.
;
Stevenson, R.
;
Schwartz, C.
2000
Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome
Villard, L.
;
Fontes, M.
;
Ades, L.
;
Gecz, J.
2005
Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS)
Wieland, I.
;
Reardon, W.
;
Jakubiczka, S.
;
Franco, B.
;
Kress, W.
;
Vincent-Delorme, C.
;
Theirry, P.
;
Edwards, M.
;
Konig, R.
;
Rusu, C.
;
Schweiger, S.
;
Thompson, E.
;
Tinschert, S.
;
Stewart, F.
;
Wieacker, P.
2002
Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation
Turner, G.
;
Partington, M.
;
Kerr, B.
;
Mangelsdorf, M.
;
Gecz, J.
2006
Newborn screening for 3-methylcrontonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment
Stadler, S.
;
Polanetz, R.
;
Maier, E.
;
Heidenreich, S.
;
Niederer, B.
;
Mayerhofer, P.
;
Lagler, F.
;
Koch, H.
;
Santer, R.
;
Fletcher, J.
;
Ranieri, E.
;
Das, A.
;
Spiekerkotter, U.
;
Schwab, K.
;
Potzsch, S.
;
Marquardt, I.
;
Hennermann, J.
;
Knerr, I.
;
Mercimek-Mahmutoglu, S.
;
Kohlschmidt, N.
;
et al.
Discover
Author
11
Gecz, J.
7
et al.
5
Berkovic, S.
4
Mulley, J.
4
Scheffer, I.
3
Dibbens, L.
3
Fletcher, J.
3
Suthers, G.
3
Wallace, R.
3
Yntema, H.
.
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Subject
29
Male
13
Pedigree
12
Adult
9
Child
9
DNA Mutational Analysis
8
Child, Preschool
8
Infant
8
Molecular Sequence Data
7
Adolescent
7
Genetic Linkage
.
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