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Proportion of cystic fibrosis gene mutations not detected by routine testing in men with obstructive azoospermia.
- Published in:
- 1999
- By:
- Publication type:
- journal article
Genetic variation in paraoxonase-2 is associated with variation in plasma lipoproteins in Canadian Oji-Cree.
- Published in:
- Clinical Genetics, 1998, v. 54, n. 5, p. 394, doi. 10.1111/j.1399-0004.1998.tb03752.x
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- Publication type:
- Article
Skipping of exon 12 as a consequence of a point mutation (1898 + 5G → T) in the cystic fibrosis transmembrane conductance regulator gene found in a consanguineous Chinese family.
- Published in:
- Clinical Genetics, 1995, v. 47, n. 3, p. 125, doi. 10.1111/j.1399-0004.1995.tb03944.x
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- Publication type:
- Article
Complex two-gene modulation of lung disease severity in children with cystic fibrosis.
- Published in:
- 2008
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- Publication type:
- journal article
Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency.
- Published in:
- Journal of Human Genetics, 2005, v. 50, n. 7, p. 338, doi. 10.1007/s10038-005-0262-8
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- Publication type:
- Article
A Panel of Radiation Hybrids Defining the 7q31-q32 Region of Human Chromosome 7.
- Published in:
- DNA Research, 1996, v. 3, n. 3, p. 181, doi. 10.1093/dnares/3.3.181
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- Publication type:
- Article
Genome Canada update.
- Published in:
- Nature Biotechnology, 2000, v. 18, n. 2, p. 129, doi. 10.1038/72485
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- Publication type:
- Article
A 1.5 million?base pair inversion polymorphism in families with Williams-Beuren syndrome.
- Published in:
- Nature Genetics, 2001, v. 29, n. 3, p. 321, doi. 10.1038/ng753
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- Publication type:
- Article
The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.
- Published in:
- Nature Genetics, 1999, v. 22, n. 2, p. 159, doi. 10.1038/9667
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- Publication type:
- Article
Developmental regulation and cell type-specific expression of the murine <sub>γ</sub>F-crystallin gene is mediated through a lens-specific element containing the <sub>γ</sub>F-1 binding site.
- Published in:
- Developmental Dynamics, 1993, v. 196, n. 2, p. 143, doi. 10.1002/aja.1001960208
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- Publication type:
- Article
Variation in the AU(AT)-Rich Element within the 3'-Untranslated Region of PPP1R3 Is Associated with Variation in Plasma Glucose in Aboriginal Canadians.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 1998, v. 83, n. 11, p. 3980, doi. 10.1210/jcem.83.11.5219
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- Publication type:
- Article
Valuable libraries.
- Published in:
- Nature, 1987, v. 326, n. 6109, p. 124, doi. 10.1038/326124e0
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- Publication type:
- Article
Gene structure of the human MET proto-oncogene.
- Published in:
- Oncogene, 1997, v. 15, n. 13, p. 1583, doi. 10.1038/sj.onc.1201338
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- Publication type:
- Article
Loss of heterozygosity and reduced expression of the CUTL1 gene in uterine leiomyomas.
- Published in:
- Oncogene, 1997, v. 14, n. 19, p. 2355, doi. 10.1038/sj.onc.1201076
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- Publication type:
- Article
The murine cataractogenic mutation, Cat Fraser, segregates independently of the gamma crystallin genes.
- Published in:
- Genetics Research, 1988, v. 51, n. 1, p. 23, doi. 10.1017/S0016672300023909
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- Publication type:
- Article
Altered expression and deletion of RMO1 in osteosarcoma.
- Published in:
- International Journal of Cancer, 2005, v. 114, n. 5, p. 738, doi. 10.1002/ijc.20786
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- Publication type:
- Article
A Novel Locus of Ectodermal Dysplasia Maps to Chromosome 10q24.32–q25.1.
- Published in:
- Journal of Investigative Dermatology, 2005, v. 124, n. 2, p. 338, doi. 10.1111/j.0022-202X.2004.23594.x
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- Publication type:
- Article
Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials.
- Published in:
- 2006
- By:
- Publication type:
- journal article
Mutations in the Cystic Fibrosis Transmembrane Regulator Gene and In Vivo Transepithelial Potentials.
- Published in:
- American Journal of Respiratory & Critical Care Medicine, 2006, v. 174, n. 7, p. 787, doi. 10.1164/rccm.200509-1377OC
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- Publication type:
- Article
The International HapMap Project.
- Published in:
- Nature, 2003, v. 426, n. 6968, p. 789, doi. 10.1038/nature02168
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- Publication type:
- Article
Genetics and genetic diagnosis. Cystic fibrosis gene mutations and infertile men with primary testicular failure.
- Published in:
- Human Reproduction, 2000, v. 15, n. 2, p. 436, doi. 10.1093/humrep/15.2.436
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- Publication type:
- Article
Cloning, Expression, and Chromosomal Localization to 11p12-13 of a Human LIM/HOMEOBOX Gene, hLim-1.
- Published in:
- DNA & Cell Biology, 1997, v. 16, n. 6, p. 671, doi. 10.1089/dna.1997.16.671
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- Publication type:
- Article
Isolation of Three Novel Human Genes Encoding G Protein-Coupled Receptors.
- Published in:
- DNA & Cell Biology, 1995, v. 14, n. 1, p. 25, doi. 10.1089/dna.1995.14.25
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- Publication type:
- Article
Mapping of genetic factors influencing the weight of cystic fibrosis knockout mice.
- Published in:
- Mammalian Genome, 2002, v. 13, n. 11, p. 614, doi. 10.1007/s00335-002-2195-2
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- Publication type:
- Article
Detection of modifier loci influencing the lung phenotype of cystic fibrosis knockout mice.
- Published in:
- Mammalian Genome, 2002, v. 13, n. 11, p. 605, doi. 10.1007/s00335-002-2190-7
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- Publication type:
- Article
Cystic Fibrosis Mutations and Associated Haplotypes in Turkish Cystic Fibrosis Patients.
- Published in:
- Human Biology, 2001, v. 73, n. 2, p. 191, doi. 10.1353/hub.2001.0022
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- Publication type:
- Article
Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 16, p. 2031, doi. 10.1093/hmg/ddg215
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- Publication type:
- Article
Identification of a novel lipase gene mutated in lpd mice with hypertriglyceridemia and associated with dyslipidemia in humans.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 10, p. 1131, doi. 10.1093/hmg/ddg124
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- Publication type:
- Article
Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 17, p. 1987, doi. 10.1093/hmg/11.17.1987
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- Publication type:
- Article
Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy.
- Published in:
- Nature Genetics, 1998, v. 20, n. 2, p. 171, doi. 10.1038/2470
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- Publication type:
- Article
Two novel frameshift deletions (1924del7, 2055del9→A) in the CFTR gene in Mexican cystic fibrosis patients.
- Published in:
- Human Mutation, 1997, v. 10, n. 3, p. 239, doi. 10.1002/(SICI)1098-1004(1997)10:3<239::AID-HUMU11>3.0.CO;2-0
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- Publication type:
- Article
Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers.
- Published in:
- Human Mutation, 1996, v. 8, n. 2, p. 149, doi. 10.1002/(SICI)1098-1004(1996)8:2<149::AID-HUMU7>3.0.CO;2-6
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- Publication type:
- Article
Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
- Published in:
- Human Mutation, 1995, v. 5, n. 1, p. 43, doi. 10.1002/humu.1380050106
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- Publication type:
- Article
Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077P, Y1092X, 2183AA→G.
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- Human Mutation, 1994, v. 3, n. 3, p. 330, doi. 10.1002/humu.1380030329
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- Publication type:
- Article
A suggested nomenclature for designating mutations.
- Published in:
- Human Mutation, 1993, v. 2, n. 4, p. 245, doi. 10.1002/humu.1380020402
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- Publication type:
- Article
Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: A report from the cystic fibrosis genetic analysis consortium.
- Published in:
- Human Mutation, 1992, v. 1, n. 3, p. 197, doi. 10.1002/humu.1380010304
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- Publication type:
- Article
Molecular analysis of the PDS gene in Pendred syndrome (sensorineural hearing loss and goitre).
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 7, p. 1105, doi. 10.1093/hmg/7.7.1105
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- Publication type:
- Article
Higher Proportion of Intact Exon 9 CFTR mRNA in Nasal Epithelium Compared with Vas Deferens.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 12, p. 2099, doi. 10.1093/hmg/6.12.2099
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- Publication type:
- Article
Identification and Characterization of Human Genes Encoding Hprp3p and Hprp4p, Interacting Components of the Spliceosome.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 12, p. 2117, doi. 10.1093/hmg/6.12.2117
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- 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
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- Publication type:
- Article
Translocation Breakpoint Maps 5 kb 3′ from TWIST in a Patient Affected with Saethre-Chotzen Syndrome.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 7, p. 1079, doi. 10.1093/hmg/6.7.1079
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- Publication type:
- Article
Incomplete Rescue of Cystic Fibrosis Transmembrane Conductance Regulator Deficient Mice by the Human CFTR cDNA.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 7, p. 1153, doi. 10.1093/hmg/6.7.1153
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- Publication type:
- Article
Characterization of the Split Hand/Split Foot Malformation Locus SHFM1 at 7Q21.3–Q22.1 and Analysis of a Candidate Gene for Its Expression during Limb Development.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 5, p. 571, doi. 10.1093/hmg/5.5.571
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- Publication type:
- Article
Localization to chromosome 7q36.1 of the human XRCC2 gene, determining sensitivity to DNA-damaging agents.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 1, p. 113
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- Publication type:
- Article
Genes encoding general initiation factors for RNA polymerase II transcription are dispersed in the human genome.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 1, p. 61
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- Publication type:
- Article
Refined localization and yeast artificial chromosome (YAC) contig—mapping of genes and DNA segments in the 7q21–q32 region.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 751
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- Publication type:
- Article
Analysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 +1G→T and 711 +1G→T mutations.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 683
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- Publication type:
- Article