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Prenatal Diagnosis of Charcot-Marie-Tooth Disease Type 1A.
- Published in:
- Annals of the New York Academy of Sciences, 1999, v. 883, n. 1, p. 457, doi. 10.1111/j.1749-6632.1999.tb08609.x
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- Article
Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region.
- Published in:
- BMC Genomics, 2008, v. 9, p. 1, doi. 10.1186/1471-2164-9-50
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- Publication type:
- Article
Acute lymphoblastic leukemia in a patient with Greig cephalopolysyndactyly and interstitial deletion of chromosome 7 del(7)(p11.2 p14) involving the GLI3 and ZNFN1A1 genes.
- Published in:
- Genes, Chromosomes & Cancer, 2005, v. 42, n. 1, p. 82, doi. 10.1002/gcc.20100
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- Article
The development of a rapid assay for prenatal testing of common aneuploidies and microdeletion syndromes.
- Published in:
- Prenatal Diagnosis, 2011, v. 31, n. 8, p. 778, doi. 10.1002/pd.2766
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- Article
Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 2, p. 139, doi. 10.1038/sj.ejhg.5201302
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- Article
FISHing for mechanisms of cytogenetically defined terminal deletions using chromosome-specific subtelomeric probes.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 10, p. 764, doi. 10.1038/sj.ejhg.5200536
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- Publication type:
- Article
Identification of female carriers for Duchenne and Becker muscular dystrophies using a FISH-based approach.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 4, p. 293, doi. 10.1038/sj.ejhg.5200450
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- Publication type:
- Article
Detecting sex chromosome anomalies and common triploidies in products of conception by array-based comparative genomic hybridization.
- Published in:
- Prenatal Diagnosis, 2006, v. 26, n. 4, p. 333, doi. 10.1002/pd.1411
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- Publication type:
- Article
Low or absent unconjugated estriol in pregnancy: an indicator for steroid sulfatase deficiency detectable by fluorescence in situ hybridization and biochemical analysis.
- Published in:
- Prenatal Diagnosis, 2002, v. 22, n. 11, p. 1028, doi. 10.1002/pd.466
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- Publication type:
- Article
Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus-Merzbacher disease.
- Published in:
- Prenatal Diagnosis, 2001, v. 21, n. 13, p. 1133, doi. 10.1002/pd.186
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- Publication type:
- Article
Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by interphase fluorescence in situ hybridization.
- Published in:
- 1999
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- Publication type:
- journal article
Molecular mechanism for duplication 17p11.2? the homologous recombination reciprocal of the Smith-Magenis microdeletion.
- Published in:
- Nature Genetics, 2000, v. 24, n. 1, p. 84, doi. 10.1038/71743
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- Publication type:
- Article
Loss of the Potassium Channel β-Subunit Gene, KCNAB2, Is Associated with Epilepsy in Patients with 1p36 Deletion Syndrome.
- Published in:
- Epilepsia (Series 4), 2001, v. 42, n. 9, p. 1103, doi. 10.1046/j.1528-1157.2001.08801.x
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- Publication type:
- Article
Recurrent Biparental Hydatidiform Mole: Additional Evidence for a 1.1-Mb Locus in 19q13.4 and Candidate Gene Analysis.
- Published in:
- Reproductive Sciences, 2005, v. 12, n. 5, p. 376, doi. 10.1016/j.jsgi.2005.02.011
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- Publication type:
- Article
Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 17, p. 2145
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- Publication type:
- Article
Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage–fusion–bridge cycles are involved in generating terminal deletions.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 17, p. 2153, doi. 10.1093/hmg/ddg231
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- Publication type:
- Article
Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 15, p. 1823, doi. 10.1093/hmg/ddg203
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- Publication type:
- Article