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Detection and incidence of cryptic Y chromosome sequences in Turner syndrome patients.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 4, p. 249, doi. 10.1111/j.1399-0004.1998.tb02691.x
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- Publication type:
- Article
Supernumerary marker chromosomes (SMCs) in Turner syndrome are mostly derived from the Y chromosome.
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- Clinical Genetics, 1997, v. 51, n. 3, p. 184, doi. 10.1111/j.1399-0004.1997.tb02450.x
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- Article
Chromosome breakage in individuals with single-cell structural aberrations and habitual abortions.
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- 1993
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- Publication type:
- journal article
A Prenatally Ascertained De Novo Terminal Deletion of Chromosomal Bands 1q43q44 Associated with Multiple Congenital Abnormalities in a Female Fetus.
- Published in:
- Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/517678
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- Publication type:
- Article
Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21.
- Published in:
- Nature Medicine, 2011, v. 17, n. 4, p. 510, doi. 10.1038/nm.2312
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- Publication type:
- Article
Prenatal diagnosis of two rare de novo structural aberrations of the Y chromosome: cytogenetic and molecular analysis.
- Published in:
- Prenatal Diagnosis, 2001, v. 21, n. 6, p. 484, doi. 10.1002/pd.79
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- Publication type:
- Article
The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 338, doi. 10.1038/ejhg.2013.147
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- Publication type:
- Article
Maternal uniparental isodisomy 20 in a foetus with trisomy 20 mosaicism: clinical, cytogenetic and molecular analysis.
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- European Journal of Human Genetics, 2002, v. 10, n. 11, p. 694, doi. 10.1038/sj.ejhg.5200867
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- Publication type:
- Article
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0459-8
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- Publication type:
- Article
Non-invasive prenatal testing of fetal chromosomal aneuploidies: validation and clinical performance of the veracity test.
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- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0446-0
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- Publication type:
- Article
Cell-Free DNA Analysis of Targeted Genomic Regions in Maternal Plasma for Non-Invasive Prenatal Testing of Trisomy 21, Trisomy 18, Trisomy 13, and Fetal Sex.
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- Clinical Chemistry, 2016, v. 62, n. 6, p. 848, doi. 10.1373/clinchem.2015.252502
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- Publication type:
- Article
Human amniotic fluid stimulates the proliferation of human fetal and adult skin fibroblasts: The roles of bFGF and PDGF and of the ERK and Akt signaling pathways Chrissouli et al. Amniotic fluid in fetal and adult fibroblast proliferation.
- Published in:
- Wound Repair & Regeneration, 2010, v. 18, n. 6, p. 643, doi. 10.1111/j.1524-475X.2010.00626.x
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- Publication type:
- Article
Clinical application of whole-genome array CGHduring prenatal diagnosis: Study of 25 selectedpregnancies with abnormal ultrasound findingsor apparently balanced structural aberrations.
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- Molecular Cytogenetics (17558166), 2010, v. 3, p. 24, doi. 10.1186/1755-8166-3-24
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- Publication type:
- Article
Unbalanced X;9 translocation in an infertile male with de novo duplication Xp22.31p22.33.
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- Journal of Assisted Reproduction & Genetics, 2019, v. 36, n. 4, p. 769, doi. 10.1007/s10815-019-01405-0
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- Publication type:
- Article
FGFR3 related skeletal dysplasias diagnosed prenatally by ultrasonography and molecular analysis: Presentation of 17 cases.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2426, doi. 10.1002/ajmg.a.34189
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- Article
Comment on 'Technical concerns on the clinical validation of the NIFTY test'.
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- Prenatal Diagnosis, 2013, v. 33, n. 13, p. 1308, doi. 10.1002/pd.4146
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- Publication type:
- Article
Variability of ffDNA in maternal plasma does not prevent correct classification of trisomy 21 using MeDIP-qPCR methodology.
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- Prenatal Diagnosis, 2013, v. 33, n. 7, p. 650, doi. 10.1002/pd.4140
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- Publication type:
- Article
MeDIP real-time qPCR of maternal peripheral blood reliably identifies trisomy 21.
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- Prenatal Diagnosis, 2012, v. 32, n. 10, p. 996, doi. 10.1002/pd.3947
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- Publication type:
- Article
Erratum: Prenatal diagnosis of a de novo partial trisomy 10p12.1-12.2 pter originating from an unbalanced translocation onto 15qter and confirmed with array CGH.
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- Prenatal Diagnosis, 2010, v. 30, n. 6, p. 594, doi. 10.1002/pd.2558
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- Publication type:
- Article
Outcome of pregnancies with trisomy 2 cells in chorionic villi.
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- Prenatal Diagnosis, 2010, v. 30, n. 4, p. 329, doi. 10.1002/pd.2457
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- Publication type:
- Article
Prenatal diagnosis of a de novo partial trisomy 10p12.1-12.2 pter originating from an unbalanced translocation onto 15qter and confirmed with array CGH.
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- Prenatal Diagnosis, 2008, v. 28, n. 8, p. 770, doi. 10.1002/pd.2049
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- Publication type:
- Article
Prenatal diagnosis of achondroplasia presenting with multiple-suture synostosis: a novel association.
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- 2006
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- Publication type:
- journal article
Prenatal Diagnosis of Trisomy 2 Mosaicism: A Case Report.
- Published in:
- Fetal Diagnosis & Therapy, 2004, v. 19, n. 6, p. 488, doi. 10.1159/000080160
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- Publication type:
- Article
Low-Level Trisomy 14 Mosaicism: A Carrier of an Isochromosome 14 and a Supernumerary Marker Chromosome 14.
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- Cytogenetic & Genome Research, 2020, v. 160, n. 11/12, p. 664, doi. 10.1159/000511549
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- Publication type:
- Article
Implementation of high resolution whole genome array CGH in the prenatal clinical setting: advantages, challenges, and review of the literature.
- Published in:
- 2013
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- Publication type:
- Journal Article
Implementation of High Resolution Whole Genome Array CGH in the Prenatal Clinical Setting: Advantages, Challenges, and Review of the Literature.
- Published in:
- BioMed Research International, 2013, v. 2013, p. 1, doi. 10.1155/2013/346762
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- Publication type:
- Article
Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients.
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- BMC Cancer, 2005, v. 5, p. 40, doi. 10.1186/1471-2407-5-40
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- Publication type:
- Article