Found: 15
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A case of de novo interstitial deletion of chromosome 5(q33q34).
- Published in:
- Clinical Genetics, 1997, v. 52, n. 3, p. 173, doi. 10.1111/j.1399-0004.1997.tb02539.x
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- Publication type:
- Article
Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping: in vitro proof of concept.
- Published in:
- 2016
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- Publication type:
- journal article
Mechanisms of MRP over-expression in four human lung-cancer cell lines and analysis of the MRP amplicon.
- Published in:
- International Journal of Cancer, 1995, v. 60, n. 5, p. 676, doi. 10.1002/ijc.2910600518
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- Publication type:
- Article
The NOTCH3 score: a pre-clinical CADASIL biomarker in a novel human genomic NOTCH3 transgenic mouse model with early progressive vascular NOTCH3 accumulation.
- Published in:
- Acta Neuropathologica Communications, 2015, v. 3, p. 1, doi. 10.1186/s40478-015-0268-1
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- Publication type:
- Article
Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2).
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 8, p. 860, doi. 10.1038/sj.ejhg.5200383
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- Publication type:
- Article
Genomic acute myeloid leukemia-associated inv(16)(p13q22) breakpoints are tightly clustered.
- Published in:
- Oncogene, 1999, v. 18, n. 2, p. 543, doi. 10.1038/sj.onc.1202321
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- Publication type:
- Article
Scanning for Genes in Large Genomic Regions: Cosmid-Based Exon Trapping of Multiple Exons in a Single Product.
- Published in:
- Nucleic Acids Research, 1996, v. 24, n. 6, p. 1105, doi. 10.1093/nar/24.6.1105
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- Publication type:
- Article
Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL.
- Published in:
- Annals of Clinical & Translational Neurology, 2016, v. 3, n. 11, p. 844, doi. 10.1002/acn3.344
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- Publication type:
- Article
CBFB/MYH11 fusion in a patient with AML-M4Eo and cytogenetically normal chromosomes 16.
- Published in:
- Genes, Chromosomes & Cancer, 2000, v. 29, n. 2, p. 186, doi. 10.1002/1098-2264(2000)9999:9999<::AID-GCC1020>3.0.CO;2-0
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- Publication type:
- Article
Molecular, cytogenetic, and phenotypic studies of a constitutional reciprocal translocation t(5; I0)(q22; q25) responsible for familial adenomatous polyposis in a Dutch pedigree.
- Published in:
- Genes, Chromosomes & Cancer, 1995, v. 13, n. 3, p. 192, doi. 10.1002/gcc.2870130309
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- Publication type:
- Article
A duplication at chromosome 11q12.2–11q12.3 is associated with spinocerebellar ataxia type 20.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 24, p. 3847, doi. 10.1093/hmg/ddn283
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- Publication type:
- Article
Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 8, p. 1207, doi. 10.1093/hmg/7.8.1207
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- Publication type:
- Article
Identification of the First Gene (FRG1) from the FSHD Region on Human Chromosome 4q35.
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- Human Molecular Genetics, 1996, v. 5, n. 5, p. 581, doi. 10.1093/hmg/5.5.581
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- Publication type:
- Article
Fish mapping of 250 cosmid and 26 YAC clones to chromosome 4 with special emphasis on the FSHD region at 4q35.
- Published in:
- Muscle & Nerve, 1995, v. 18, n. S13, p. S14, doi. 10.1002/mus.880181305
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- Publication type:
- Article
Two-colour FISH detection of the inv(16) in interphase nuclei of patients with acute myeloid leukaemia.
- Published in:
- British Journal of Haematology, 1999, v. 106, n. 1, p. 111, doi. 10.1046/j.1365-2141.1999.01521.x
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- Publication type:
- Article