Works matching IS 09646906 AND DT 2001 AND VI 10 AND IP 9
Results: 22
Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 9, p. 983, doi. 10.1093/hmg/10.9.983
- By:
- Publication type:
- Article
Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 9, p. 953, doi. 10.1093/hmg/10.9.953
- By:
- Publication type:
- Article
Analysis of a malsegregating mouse Y chromosome: evidence that the earliest cleavage divisions of the mammalian embryo are non-disjunction-prone.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 9, p. 963, doi. 10.1093/hmg/10.9.963
- By:
- Publication type:
- Article
Inducible expression of mutant α-synuclein decreases proteasome activity and increases sensitivity to mitochondria-dependent apoptosis.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 9, p. 919, doi. 10.1093/hmg/10.9.919
- By:
- Publication type:
- Article
Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 9, p. 973, doi. 10.1093/hmg/10.9.973
- Publication type:
- Article
Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 9, p. 911, doi. 10.1093/hmg/10.9.911
- By:
- Publication type:
- Article
Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 9, p. 947, doi. 10.1093/hmg/10.9.947
- By:
- Publication type:
- Article
MECP2 is highly mutated in X-linked mental retardation.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 9, p. 941, doi. 10.1093/hmg/10.9.941
- By:
- Publication type:
- Article
Recovery from arterial growth delay reduces penetrance of cardiovascular defects in mice deleted for the DiGeorge syndrome region.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 9, p. 997, doi. 10.1093/hmg/10.9.997
- By:
- Publication type:
- Article
Analysis of a malsegregating mouse Y chromosome: evidence that the earliest cleavage divisions of the mammalian embryo are non-disjunction-prone.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 9, p. 963, doi. 10.1093/hmg/10.9.963
- By:
- Publication type:
- Article
The endothelin receptor B (EDNRB) promoter displays heterogeneous, site specific methylation patterns in normal and tumor cells.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 9, p. 903, doi. 10.1093/hmg/10.9.903
- By:
- Publication type:
- Article
A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 9, p. 927, doi. 10.1093/hmg/10.9.927
- By:
- Publication type:
- Article
A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 9, p. 927, doi. 10.1093/hmg/10.9.927
- By:
- Publication type:
- Article
The endothelin receptor B ( EDNRB) promoter displays heterogeneous, site specific methylation patterns in normal and tumor cells.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 9, p. 906, doi. 10.1093/hmg/10.9.903
- By:
- Publication type:
- Article
Recovery from arterial growth delay reduces penetrance of cardiovascular defects in mice deleted for the DiGeorge syndrome region.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 9, p. 997, doi. 10.1093/hmg/10.9.997
- By:
- Publication type:
- Article
MECP2 is highly mutated in X-linked mental retardation.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 9, p. 941, doi. 10.1093/hmg/10.9.941
- By:
- Publication type:
- Article
Connexin 31 ( GJB3 ) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 9, p. 947, doi. 10.1093/hmg/10.9.947
- By:
- Publication type:
- Article
Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 9, p. 911, doi. 10.1093/hmg/10.9.911
- By:
- Publication type:
- Article
Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 9, p. 973, doi. 10.1093/hmg/10.9.973
- Publication type:
- Article
Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 9, p. 953, doi. 10.1093/hmg/10.9.953
- By:
- Publication type:
- Article
Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 9, p. 983, doi. 10.1093/hmg/10.9.983
- By:
- Publication type:
- Article
Inducible expression of mutant α -synuclein decreases proteasome activity and increases sensitivity to mitochondria-dependent apoptosis.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 9, p. 919, doi. 10.1093/hmg/10.9.919
- By:
- Publication type:
- Article