Works matching IS 09646906 AND DT 2001 AND VI 10 AND IP 25
Results: 11
Interaction between krit1 andicap1α infers perturbation ofintegrin β1-mediatedangiogenesis in the pathogenesis of cerebral cavernous malformation.
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- Human Molecular Genetics, 2001, v. 10, n. 25, p. 2953, doi. 10.1093/hmg/10.25.2953
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- Article
A genome screen for genes predisposingto bipolar affective disorder detects a new susceptibility locus on 8q.
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- Human Molecular Genetics, 2001, v. 10, n. 25, p. 2933, doi. 10.1093/hmg/10.25.2933
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- Article
TSC2 missensemutations inhibit tuberin phosphorylation and prevent formationof the tuberin–hamartin complex.
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- Human Molecular Genetics, 2001, v. 10, n. 25, p. 2889, doi. 10.1093/hmg/10.25.2889
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- Article
Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin andtuberin.
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- Human Molecular Genetics, 2001, v. 10, n. 25, p. 2899, doi. 10.1093/hmg/10.25.2899
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- Article
LIP1, a cytoplasmic protein functionallylinked to the Peutz-Jeghers syndrome kinase LKB1.
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- Human Molecular Genetics, 2001, v. 10, n. 25, p. 2869, doi. 10.1093/hmg/10.25.2869
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- Article
Dissection of the HLA associationwith multiple sclerosis in the founder isolated population of Sardinia.
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- Human Molecular Genetics, 2001, v. 10, n. 25, p. 2907, doi. 10.1093/hmg/10.25.2907
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- Article
DNA methyltransferase 3B mutationslinked to the ICF syndrome cause dysregulation of lymphogenesisgenes.
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- Human Molecular Genetics, 2001, v. 10, n. 25, p. 2917, doi. 10.1093/hmg/10.25.2917
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- Article
Identification of four novelmutations in the C-terminal membrane spanning domain of the ryanodinereceptor 1: association with central core disease and alterationof calcium homeostasis.
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- Human Molecular Genetics, 2001, v. 10, n. 25, p. 2879, doi. 10.1093/hmg/10.25.2879
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- Article
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2Ias a milder allelic variant of congenital muscular dystrophy MDC1C.
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- Human Molecular Genetics, 2001, v. 10, n. 25, p. 2851, doi. 10.1093/hmg/10.25.2851
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- Article
Mutations in GJA1(connexin43) are associated with non-syndromic autosomal recessive deafness.
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- Human Molecular Genetics, 2001, v. 10, n. 25, p. 2945, doi. 10.1093/hmg/10.25.2945
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- Article
Albers-Schönberg disease (autosomal dominant osteopetrosis,type II) results from mutations in the ClCN7chloride channel gene.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 25, p. 2861, doi. 10.1093/hmg/10.25.2861
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- Article