Results 161 to 170 of about 750,648 (173)

Reactivation of inactive X‐linked genes

Developmental Genetics, 1994
S M, Gartler, M A, Goldman
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Gene deletions in X-linked muscular dystrophy.

American journal of human genetics, 1989
Of the approximately 170 families with X-linked muscular dystrophy of the Duchenne (DMD) and Becker (BMD) type in Finland, we have studied 90 unrelated patients for intragenic deletions by using the cDNA probes described by Koenig et al. Forty-five patients (50%) had molecular deletions of one or several of the 65 exon-containing HindIII fragments.
M, Lindlöf, A, Kiuru, H, Kääriäinen, H, Kalimo, H, Lang, H, Pihko, J, Rapola, H, Somer, M, Somer, M L, Savontaus   +9 more
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[From gene to disease; X-linked adrenoleukodystrophy].

Nederlands tijdschrift voor geneeskunde, 2008
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder, characterized by impaired peroxisomal beta-oxidation, subsequent accumulation of very long-chain fatty acids (> 22 carbon atoms), and mutations in the ABCD1 gene. Clinical manifestations, diagnostic procedures and treatment options are discussed.
M, Engelen, S, Kemp, B M, van Geel
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X-linked dystrophies: from gene localization to gene therapy.

Current opinion in neurology and neurosurgery, 1992
Linkage studies have narrowed the interval to which the Emery-Dreifuss muscular dystrophy (EDMD) gene maps, raising prospects for isolating this locus. Diagnosis and carrier detection for Duchenne muscular dystrophy (DMD) have been improved, new isoforms of dystrophin have been identified, and gene transfer studies have raised the prospects for gene ...
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Gene therapy strategies for X-linked adrenoleukodystrophy.

Current opinion in molecular therapeutics, 2002
X-linked adrenoleukodystrophy (ALD) is the most frequently seen genetic disorder involving the myelin of the central nervous system. The cerebral form affects mainly boys between five to 12 years, leading to vegetative state or death within two to four years.
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COUNSELLING X-LINKED RECESSIVE GENE TRAITS

1976
ALAN CARRUTH STEVENSON, B.C. CLARE DAVISON   +1 more
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Analysis of X-linked gene data.

The Journal of Immunology, 1982
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Cloning of the X-linked glycerol kinase gene

Human Molecular Genetics, 1993
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Localization of Human X-Linked Genes

Nature, 1973
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X-linked CMT: genes and gene loci in an Australian cohort

neurogenetics, 2010
Megan Hwa, Brewer, Rabia, Chaudhry, Keta, McDowall, Shannon, Chu, Bartosz, Kowalski, Patsie, Polly, Garth, Nicholson, Marina, Kennerson   +7 more
openaire   +2 more sources