Works matching IS 09646906 AND DT 1997 AND VI 6 AND IP 11
Results: 29
Population Genetics and Disease Susceptibility: Characterization of Central European Haplogroups By mtDNA Gene Mutations, Correlation with D Loop Variants and Association With Disease.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 11, p. 1835, doi. 10.1093/hmg/6.11.1835
- By:
- Publication type:
- Article
A Novel Phenotypic Pattern in X-Linked Inheritance: Craniofrontonasal Syndrome Maps to Xp22.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 11, p. 1937, doi. 10.1093/hmg/6.11.1937
- By:
- Publication type:
- Article
The GAP-Related Domain of Tuberin, the Product of the TSC2 Gene, is a Target for Missense Mutations in Tuberous Sclerosis.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 11, p. 1991, doi. 10.1093/hmg/6.11.1991
- By:
- Publication type:
- Article
Characterization of Melanocyte Stimulating Hormone Receptor Variant Alleles in Twins with Red Hair.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 11, p. 1891, doi. 10.1093/hmg/6.11.1891
- By:
- Publication type:
- Article
Cloning of a Novel Transcription Factor-Like Gene Amplified in Human Glioma Including Astrocytoma Grade I.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 11, p. 1817, doi. 10.1093/hmg/6.11.1817
- By:
- Publication type:
- Article
Genomic Structure and Parent-of-Origin-Specific Methylation of Peg1.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 11, p. 1907, doi. 10.1093/hmg/6.11.1907
- By:
- Publication type:
- Article
Mutations in the C-Terminal Domain of Sonic Hedgehog Cause Holoprosencephaly.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 11, p. 1847, doi. 10.1093/hmg/6.11.1847
- By:
- Publication type:
- Article
Linkage Between Markers in the Vicinity of the Uncoupling Protein 2 Gene and Resting Metabolic Rate in Humans.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 11, p. 1887, doi. 10.1093/hmg/6.11.1887
- By:
- Publication type:
- Article
Abnormal XY Interchange between a Novel Isolated Protein Kinase Gene, PRKY, and Its Homologue, PRKX, Accounts for One Third of All (Y+)XX Males and (Y-)XY Females.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 11, p. 1985, doi. 10.1093/hmg/6.11.1985
- By:
- Publication type:
- Article
A Novel, Heritable, Expanding CTG Repeat in an Intron of the SEF2-1 Gene on Chromosome 18q21.1.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 11, p. 1855, doi. 10.1093/hmg/6.11.1855
- By:
- Publication type:
- Article
Expression of the SMN Gene, the Spinal Muscular Atrophy Determining Gene, in the Mammalian Central Nervous System.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 11, p. 1961, doi. 10.1093/hmg/6.11.1961
- By:
- Publication type:
- Article
Differential Expression Pattern of XqPAR-Linked Genes SYBL1 and IL9R Correlates with the Structure and Evolution of the Region.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 11, p. 1917, doi. 10.1093/hmg/6.11.1917
- By:
- Publication type:
- Article
Identification and Characterization of Aquaporin-2 Water Channel Mutations Causing Nephrogenic Diabetes Insipidus with Partial Vasopressin Response.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 11, p. 1865, doi. 10.1093/hmg/6.11.1865
- By:
- Publication type:
- Article
X-Linked Glycerol Kinase Deficiency in the Mouse Leads to Growth Retardation, Altered Fat Metabolism, Autonomous Glucocorticoid Secretion and Neonatal Death.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 11, p. 1803, doi. 10.1093/hmg/6.11.1803
- By:
- Publication type:
- Article
Genetic Modification of the Phenotypes Produced by Amyloid Precursor Protein Overexpression in Transgenic Mice.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 11, p. 1951, doi. 10.1093/hmg/6.11.1951
- By:
- Publication type:
- Article
Abnormal FGFR 3 Expression in Cartilage of Thanatophoric Dysplasia Fetuses.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 11, p. 1899, doi. 10.1093/hmg/6.11.1899
- By:
- Publication type:
- Article
Pathophysiological Mechanisms of Dominant and Recessive KvLQT1 K+ Channel Mutations Found in Inherited Cardiac Arrhythmias.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 11, p. 1943, doi. 10.1093/hmg/6.11.1943
- By:
- Publication type:
- Article
Cag Repeat Expansion in Autosomal Dominant Pure Spastic Paraplegia Linked to Chromosome 2p21–p24.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 11, p. 1811, doi. 10.1093/hmg/6.11.1811
- By:
- Publication type:
- Article
Episodic Ataxia Type 2 (EA2) and Spinocerebellar Ataxia Type 6 (SCA6) Due to CAG Repeat Expansion in the CACNA1A Gene on Chromosome 19p.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 11, p. 1973, doi. 10.1093/hmg/6.11.1973
- By:
- Publication type:
- Article
Frataxin is Reduced in Friedreich Ataxia Patients and is Associated with Mitochondrial Membranes.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 11, p. 1771, doi. 10.1093/hmg/6.11.1771
- By:
- Publication type:
- Article
Point Mutations in Human GLI3 Cause Greig Syndrome.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 11, p. 1979, doi. 10.1093/hmg/6.11.1979
- By:
- Publication type:
- Article
Identification of a Fourth Half ABC Transporter in the Human Peroxisomal Membrane.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 11, p. 1925, doi. 10.1093/hmg/6.11.1925
- By:
- Publication type:
- Article
Reciprocal Effect of Waardenburg Syndrome Mutations on DNA Binding by the Pax-3 Paired Domain and Homeodomain.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 11, p. 1781, doi. 10.1093/hmg/6.11.1781
- By:
- Publication type:
- Article
CYP11B1 Mutations Causing Non-Classic Adrenal Hyperplasia due to 11β-Hydroxylase Deficiency.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 11, p. 1829, doi. 10.1093/hmg/6.11.1829
- By:
- Publication type:
- Article
Synergy Between the Genes for Butyrylcholinesterase K Variant and Apolipoprotein E4 in Late-Onset Confirmed Alzheimer's Disease.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 11, p. 1933, doi. 10.1093/hmg/6.11.1933
- By:
- Publication type:
- Article
The Necdin Gene is Deleted in Prader-Willi Syndrome and is Imprinted in Human and Mouse.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 11, p. 1873, doi. 10.1093/hmg/6.11.1873
- By:
- Publication type:
- Article
Mapping of Both Autosomal Recessive and Dominant Variants of Pseudoxanthoma Elasticum to Chromosome 16p13.1.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 11, p. 1823, doi. 10.1093/hmg/6.11.1823
- By:
- Publication type:
- Article
Apoptotic Cell Death in Mouse Models of GM2 Gangliosidosis and Observations on Human Tay-Sachs and Sandhoff Diseases.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 11, p. 1879, doi. 10.1093/hmg/6.11.1879
- By:
- Publication type:
- Article
Epigenetic Variation Illustrated by DNA Methylation Patterns of the Fragile-X Gene FMR1.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 11, p. 1791, doi. 10.1093/hmg/6.11.1791
- By:
- Publication type:
- Article