Found: 14
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Subtle familial unbalanced translocation t(8;11)(p23.2;p15.5) in two fetuses with Beckwith-Wiedemann features.
- Published in:
- Prenatal Diagnosis, 2000, v. 20, n. 6, p. 511, doi. 10.1002/1097-0223(200006)20:6<511::AID-PD849>3.0.CO;2-B
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- Publication type:
- Article
Amniotic fluid digestive enzymes: Diagnostic value in fetal gastrointestinal obstructions.
- Published in:
- Prenatal Diagnosis, 1994, v. 14, n. 10, p. 973, doi. 10.1002/pd.1970141013
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- Publication type:
- Article
Trisomy 15 in chorionic villi and Prader-Willi syndrome at birth.
- Published in:
- Prenatal Diagnosis, 1993, v. 13, n. 4, p. 307, doi. 10.1002/pd.1970130410
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- Publication type:
- Article
Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 3, p. 285, doi. 10.1038/ejhg.2009.159
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- Publication type:
- Article
Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 2, p. 227, doi. 10.1038/ejhg.2009.162
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- Publication type:
- Article
Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosis.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 8, p. 1019, doi. 10.1038/ejhg.2009.13
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- Publication type:
- Article
Functional disomy of the Xq28 chromosome region.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 579, doi. 10.1038/sj.ejhg.5201384
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- Publication type:
- Article
Reproductive genetic counselling in non-mosaic 47,XXY patients: implications for preimplantation or prenatal diagnosis: Case report and review.
- Published in:
- 2003
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- Publication type:
- journal article
Prenatal diagnosis of a ring chromosome 14 in a fetus with a severe skeletal dysplasia.
- Published in:
- Prenatal Diagnosis, 2008, v. 28, n. 1, p. 69, doi. 10.1002/pd.1911
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- Publication type:
- Article
Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy.
- Published in:
- Prenatal Diagnosis, 2006, v. 26, n. 13, p. 1201, doi. 10.1002/pd.1588
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- Publication type:
- Article
Molecular characterisation of a prenatally diagnosed 5q15q21.3 deletion and review of the literature.
- Published in:
- Prenatal Diagnosis, 2006, v. 26, n. 3, p. 231, doi. 10.1002/pd.1386
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- Publication type:
- Article
Molecular screening of the ZFHX1B gene in prenatally diagnosed isolated agenesis of the corpus callosum.
- Published in:
- Prenatal Diagnosis, 2004, v. 24, n. 4, p. 298, doi. 10.1002/pd.865
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- Publication type:
- Article
CGH analysis in a cohort of 17 chromosomally normal fetuses with an increased nuchal translucency.
- Published in:
- Prenatal Diagnosis, 2003, v. 23, n. 12, p. 1017, doi. 10.1002/pd.677
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- Publication type:
- Article
Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis.
- Published in:
- Human Mutation, 1998, v. 12, n. 4, p. 259, doi. 10.1002/(SICI)1098-1004(1998)12:4<259::AID-HUMU7>3.0.CO;2-A
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- Publication type:
- Article