Found: 42
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Protein phosphatase-1 is involved in Xenopus oocyte maturation.
- Published in:
- Nature, 1981, v. 294, n. 5839, p. 358, doi. 10.1038/294358a0
- By:
- Publication type:
- Article
Mapping and identification of essential gene functions on the X chromosome of Drosophila.
- Published in:
- 2002
- By:
- Publication type:
- Report
DNA LIBRARIES FOR SEQUENCING THE GENOME OF OSTREOCOCCUS TAURI (CHLOROPHYTA, PRASINOPHYCEAE): THE SMALLEST FREE-LIVING EUKARYOTIC CELL<sup>1</sup>.
- Published in:
- Journal of Phycology, 2002, v. 38, n. 6, p. 1150, doi. 10.1046/j.1529-8817.2002.02021.x
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- Publication type:
- Article
Comparative Genomics of Three Strains of Ehrlichia ruminantium.
- Published in:
- Annals of the New York Academy of Sciences, 2006, v. 1081, n. 1, p. 417, doi. 10.1196/annals.1373.061
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- Publication type:
- Article
Prenatal diagnosis for cystic fibrosis using SSCP analysis.
- Published in:
- Prenatal Diagnosis, 1993, v. 13, n. 2, p. 147, doi. 10.1002/pd.1970130211
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- Publication type:
- Article
Potential co-existence of haemophilia A and B carrier status in two sisters.
- Published in:
- 1992
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- Publication type:
- Case Study
Maternal aging and chromosomal abnormalities: new data drawn from in vitro unfertilized human oocytes.
- Published in:
- Human Genetics, 2003, v. 112, n. 2, p. 195, doi. 10.1007/s00439-002-0852-x
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- Publication type:
- Article
Segregation of a mutation in CNGB1 encoding the β-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa.
- Published in:
- Human Genetics, 2001, v. 108, n. 4, p. 328, doi. 10.1007/s004390100496
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- Publication type:
- Article
Familial Mediterranean fever in the ‘Chuetas’ of Mallorca: a question of Jewish origin or genetic heterogeneity.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 4, p. 242, doi. 10.1038/sj.ejhg.5200462
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- Publication type:
- Article
Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF).
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 1, p. 95, doi. 10.1038/sj.ejhg.5200170
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- Publication type:
- Article
Acute adaptative changes to unilateral nephrectomy in humans.
- Published in:
- Kidney International, 1987, v. 32, n. 5, p. 714, doi. 10.1038/ki.1987.265
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- Publication type:
- Article
Ca<sup>2+</sup>/CALMODULIN-DEPENDENT PHOSPHOLAMBAN KINASE FROM CARDIAC SARCOPLASMIC RETICULUM IS DISTINCT FROM PHOSPHORYLASE KINASE AND FORMS A REGULATORY COMPLEX WITH PHOSPHOLAMBAN AND THE Ca<sup>2+</sup>-ATPase*.
- Published in:
- Annals of the New York Academy of Sciences, 1982, v. 402, n. 1, p. 549, doi. 10.1111/j.1749-6632.1982.tb25774.x
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- Publication type:
- Article
Binding of serum response factor to cystic fibrosis transmembrane conductance regulator CArG-like elements, as a new potential CFTR transcriptional regulation pathway.
- Published in:
- Nucleic Acids Research, 2005, v. 33, n. 16, p. 5271, doi. 10.1093/nar/gki837
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- Publication type:
- Article
The MetaFMF website: a high quality tool for meta-analysis of FMF.
- Published in:
- Nucleic Acids Research, 2003, v. 31, n. 1, p. 286, doi. 10.1093/nar/gkg097
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- Publication type:
- Article
INFEVERS: the Registry for FMF and hereditary inflammatory disorders mutations.
- Published in:
- Nucleic Acids Research, 2003, v. 31, n. 1, p. 282, doi. 10.1093/nar/gkg031
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- Publication type:
- Article
Evolution of the Gypsy Endogenous Retrovirus in the Drosophila melanogaster Subgroup.
- Published in:
- Molecular Biology & Evolution, 2000, v. 17, n. 6, p. 908, doi. 10.1093/oxfordjournals.molbev.a026371
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- Publication type:
- Article
Mechanisms of non-disjunction in human female meiosis: the co-existence of two modes of malsegregation evidenced by the karyotyping of 1397 in-vitro unfertilized oocytes.
- Published in:
- 2002
- By:
- Publication type:
- journal article
A single olfactory receptor specifically binds a set of odorant molecules.
- Published in:
- European Journal of Neuroscience, 2002, v. 15, n. 3, p. 409, doi. 10.1046/j.0953-816X.2001.01871.x
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- Publication type:
- Article
Simple variant t(8;21) acute myeloid leukemias harbor insertions of the AML1 or ETO genes.
- Published in:
- Genes, Chromosomes & Cancer, 1999, v. 24, n. 2, p. 165, doi. 10.1002/(SICI)1098-2264(199902)24:2<165::AID-GCC12>3.0.CO;2-1
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- Publication type:
- Article
Determination of cardiac and plasma drug levels during long-term amiodarone therapy.
- Published in:
- European Journal of Clinical Investigation, 1983, v. 13, n. 2, p. 123, doi. 10.1111/j.1365-2362.1983.tb00076.x
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- Publication type:
- Article
A case/control study of the association between primary liver cancer and hepatitis b infection in senegal.
- Published in:
- International Journal of Cancer, 1975, v. 16, n. 3, p. 376, doi. 10.1002/ijc.2910160304
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- Publication type:
- Article
Infevers: An evolving mutation database for auto-inflammatory syndromes.
- Published in:
- Human Mutation, 2004, v. 24, n. 3, p. 194, doi. 10.1002/humu.20080
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- Publication type:
- Article
MEFV mutations in Behçet's disease.
- Published in:
- Human Mutation, 2000, v. 16, n. 3, p. 271, doi. 10.1002/1098-1004(200009)16:3<271::AID-HUMU16>3.0.CO;2-A
- By:
- Publication type:
- Article
W179R: A novel missense mutation in the peripherin/RDS gene in a family with autosomal dominant retinitis pigmentosa.
- Published in:
- Human Mutation, 2000, v. 15, n. 6, p. 583, doi. 10.1002/1098-1004(200006)15:6<583::AID-HUMU24>3.0.CO;2-X
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- Publication type:
- Article
Point mutations in the dystrophin gene: Evidence for frequent use of cryptic splice sites as a result of splicing defects.
- Published in:
- Human Mutation, 1999, v. 14, n. 5, p. 359, doi. 10.1002/(SICI)1098-1004(199911)14:5<359::AID-HUMU1>3.0.CO;2-K
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- Publication type:
- Article
Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutations.
- Published in:
- Human Mutation, 1998, v. 11, n. 6, p. 480, doi. 10.1002/(SICI)1098-1004(1998)11:6<480::AID-HUMU10>3.0.CO;2-Z
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- Publication type:
- Article
Protein truncation test: Detection of severe haemophilia A mutation and analysis of factor VIII transcripts.
- Published in:
- Human Mutation, 1998, v. 11, n. 1, p. 18, doi. 10.1002/(SICI)1098-1004(1998)11:1<18::AID-HUMU3>3.0.CO;2-H
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- Publication type:
- Article
A novel mutation (S558X) causing choroideremia.
- Published in:
- Human Mutation, 1996, v. 8, n. 4, p. 395, doi. 10.1002/humu.1380080405
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- Publication type:
- Article
A novel mutation in the CFTR gene: I506T in exon 10.
- Published in:
- Human Mutation, 1995, v. 6, n. 3, p. 279, doi. 10.1002/humu.1380060321
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- Publication type:
- Article
Protein truncation test: Analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation.
- Published in:
- Human Mutation, 1995, v. 6, n. 2, p. 126, doi. 10.1002/humu.1380060205
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- Publication type:
- Article
Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult.
- Published in:
- Human Mutation, 1995, v. 6, n. 2, p. 190, doi. 10.1002/humu.1380060216
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- Publication type:
- Article
A novel mutation (Val-373 to Glu) in the catalytic domain of factor IX, resulting in moderately/severe hemophilia B in a Southern French patient.
- Published in:
- Human Mutation, 1994, v. 3, n. 2, p. 156, doi. 10.1002/humu.1380030211
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- Publication type:
- Article
Base substitutions in the human dystrophin gene: Detection by using the single-strand conformation polymorphism (SSCP) technique.
- Published in:
- Human Mutation, 1993, v. 2, n. 5, p. 368, doi. 10.1002/humu.1380020508
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- Publication type:
- Article
Screening for cystic fibrosis mutations in Southern France: Identification of a frameshift mutation and two missense variations.
- Published in:
- Human Mutation, 1992, v. 1, n. 4, p. 310, doi. 10.1002/humu.1380010408
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- Publication type:
- Article
A new intragenic polymorphism detected by the single-strand conformation polymorphism (SSCP) assay in the dystrophin gene.
- Published in:
- Human Mutation, 1992, v. 1, n. 3, p. 221, doi. 10.1002/humu.1380010308
- By:
- Publication type:
- Article
Porcine Odorant-binding Protein Selectively Binds to a Human Olfactory Receptor.
- Published in:
- Chemical Senses, 2002, v. 27, n. 8, p. 691, doi. 10.1093/chemse/27.8.691
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- Publication type:
- Article
Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 8, p. 1317, doi. 10.1093/hmg/7.8.1317
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- Publication type:
- Article
Two novel rare frameshift mutations (2423 del G in exon 13 and 1215 del G in exon 7) and one novel rare sequence variation (3271 + 18 C or T) identified in a patient with cystic fibrosis.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 6, p. 1003
- By:
- Publication type:
- Article
A novel splice site mutation in the first exon of the cystic fibrosis transmembrane regulator (CFTR) gene identified in a CBAVD patient.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 2, p. 369
- By:
- Publication type:
- Article
Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in Southern France.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1209
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- Publication type:
- Article
Beta 2 microglobulin isoforms in healthy individuals and in amyloid deposits.
- Published in:
- Kidney International, 1995, v. 48, n. 5, p. 1397
- By:
- Publication type:
- Article
Recurrent PIG-A mutation (IVS5+1G→A) in a paediatric case of paroxysmal nocturnal haemoglobinuria: detection by the protein truncation test.
- Published in:
- British Journal of Haematology, 1997, v. 98, n. 1, p. 21, doi. 10.1046/j.1365-2141.1997.1742988.x
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- Publication type:
- Article