Found: 21
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Genomic rearrangements of PTEN in prostate cancer.
- Published in:
- Frontiers in Oncology, 2013, v. 3, p. 1, doi. 10.3389/fonc.2013.00240
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- Publication type:
- Article
Telomere-telomere (end to end) fusion of chromosomes 7 and 22 with an interstitial deletion of chromosome 7p11.2→p15.1: phenotypic consequences and possible mechanisms.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 2, p. 129, doi. 10.1034/j.1399-0004.2000.580207.x
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- Publication type:
- Article
Mild phenotype in two siblings with distal monosomy 12p13.31→pter.
- Published in:
- Clinical Genetics, 2000, v. 57, n. 5, p. 401, doi. 10.1034/j.1399-0004.2000.570513.x
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- Publication type:
- Article
Chimerism detected by an unbalanced chromosome translocation: an alternative hypothesis.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 3, p. 230, doi. 10.1111/j.1399-0004.1998.tb02685.x
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- Publication type:
- Article
Mosaicism for a small supernumerary ring X chromosome in a dysmorphic, growth-retarded male: mos47,XXY/48,XXY, + r(X).
- Published in:
- Clinical Genetics, 1997, v. 52, n. 6, p. 432, doi. 10.1111/j.1399-0004.1997.tb02564.x
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- Publication type:
- Article
Cervical intraepithelial neoplasia and aneusomy of TERC: Assessment of liquid-based cytological preparations.
- Published in:
- Diagnostic Cytopathology, 2009, v. 37, n. 6, p. 411, doi. 10.1002/dc.21007
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- Publication type:
- Article
Prenatal Diagnosis of Minute Supernumerary Marker Chromosomes.
- Published in:
- Gynecologic & Obstetric Investigation, 2005, v. 60, n. 1, p. 27, doi. 10.1159/000083482
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- Publication type:
- Article
Supernumerary marker chromosomes derived from chromosome 6: Cytogenetic, molecular cytogenetic, and array CGH characterization.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1568, doi. 10.1002/ajmg.a.35385
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- Publication type:
- Article
Analytical performance evaluation of a commercial next generation sequencing liquid biopsy platform using plasma ctDNA, reference standards, and synthetic serial dilution samples derived from normal plasma.
- Published in:
- 2020
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- Publication type:
- journal article
Heteromorphisms of chromosome 18 can obscure detection of fetal aneuploidy by interphase FISH.
- Published in:
- Prenatal Diagnosis, 2001, v. 21, n. 8, p. 702, doi. 10.1002/pd.145
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- Publication type:
- Article
Interphase FISH with chromosome-specific protelomere probes for rapid prenatal diagnosis in a reciprocal translocation carrier.
- Published in:
- Prenatal Diagnosis, 2001, v. 21, n. 3, p. 171, doi. 10.1002/1097-0223(200103)21:3<171::AID-PD24>3.0.CO;2-4
- By:
- Publication type:
- Article
Prenatal diagnosis of supernumerary marker 15 chromosomes and exclusion of uniparental disomy for chromosome 15.
- Published in:
- Prenatal Diagnosis, 1999, v. 19, n. 8, p. 721, doi. 10.1002/(SICI)1097-0223(199908)19:8<721::AID-PD616>3.0.CO;2-M
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- Publication type:
- Article
Prenatal diagnosis and outcome of mosaicism for a de novo unbalanced translocation identified in amniocytes.
- Published in:
- Prenatal Diagnosis, 1998, v. 18, n. 8, p. 857, doi. 10.1002/(SICI)1097-0223(199808)18:8<857::AID-PD356>3.0.CO;2-F
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- Publication type:
- Article
Ring chromosome 15: characterization by array CGH.
- Published in:
- Human Genetics, 2006, v. 118, n. 5, p. 611, doi. 10.1007/s00439-005-0030-z
- By:
- Publication type:
- Article
Incidence of microduplication 22q11.2 in patients referred for FISH testing for velo cardiofacial and DiGeorge syndromes.
- Published in:
- 2005
- By:
- Publication type:
- Letter
Mosaicism for structural non-centromeric autosomal rearrangement in prenatal diagnoses: evidence for sex-specific selection against chromosomal abnormalities.
- Published in:
- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0346-0
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- Publication type:
- Article
Mosaicism for structural non-centromeric autosomal rearrangements in disease-defined carriers: sex differences in the rearrangements profile and maternal age distributions.
- Published in:
- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0321-9
- By:
- Publication type:
- Article
Somatic/gonadal mosaicism for structural autosomal rearrangements: female predominance among carriers of gonadal mosaicism for unbalanced rearrangements.
- Published in:
- Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-015-0211-y
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- Publication type:
- Article
Y chromosome heterochromatin variation detected at prenatal diagnosis.
- Published in:
- Prenatal Diagnosis, 2005, v. 25, n. 11, p. 1062, doi. 10.1002/pd.1280
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- Publication type:
- Article
Mosaicism for Autosomal Trisomies: A Comprehensive Analysis of 1266 Published Cases Focusing on Maternal Age and Reproductive History.
- Published in:
- Genes, 2024, v. 15, n. 6, p. 778, doi. 10.3390/genes15060778
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- Publication type:
- Article
A Transcript Map of the Newly Defined 165 kb Wolf-Hirschhorn Syndrome Critical Region.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 2, p. 317, doi. 10.1093/hmg/6.2.317
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- Publication type:
- Article