Found: 21
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Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1645
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- Publication type:
- Article
iPSCs derived from infertile men carrying complex genetic abnormalities can generate primordial germ-like cells.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-17337-2
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- Publication type:
- Article
Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly.
- Published in:
- 2017
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- Publication type:
- Case Study
Tetrasomy 13q31.1qter due to an inverted duplicated neocentric marker chromosome in a fetus with multiple malformations.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 894, doi. 10.1002/ajmg.a.35258
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- Publication type:
- Article
Induced pluripotent stem cell generation from a man carrying a complex chromosomal rearrangement as a genetic model for infertility studies.
- Published in:
- Scientific Reports, 2017, p. 39760, doi. 10.1038/srep39760
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- Publication type:
- Article
Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 8, p. 882, doi. 10.1038/ejhg.2010.46
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- Publication type:
- Article
A new mutation in the AFP gene responsible for a total absence of alpha feto-protein on second trimester maternal serum screening for Down syndrome.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 3, p. 387, doi. 10.1038/ejhg.2008.186
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- Publication type:
- Article
SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development.
- Published in:
- Human Reproduction, 2012, v. 27, n. 5, p. 1460, doi. 10.1093/humrep/des022
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- Publication type:
- Article
Lack of consensus in the choice of termination of pregnancy for Turner syndrome in France.
- Published in:
- 2019
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- Publication type:
- journal article
Molecular cytogenetic studies of Xq critical regions in premature ovarian failure patients.
- Published in:
- Human Reproduction, 2006, v. 21, n. 9, p. 2329, doi. 10.1093/humrep/del174
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- Publication type:
- Article
Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease.
- Published in:
- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0107-x
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- Publication type:
- Article
Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/1755-8166-7-17
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- Publication type:
- Article
Cover Image, Volume 36, Issue 10.
- Published in:
- Prenatal Diagnosis, 2016, v. 36, n. 10, p. i, doi. 10.1002/pd.4744
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- Publication type:
- Article
Teaching invasive prenatal procedures: effectiveness of two simple simulators in training.
- Published in:
- 2016
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- Publication type:
- journal article
Double aneuploid mosaicism 45,X/46,XX/47,XX,+18 in a fetus with cerebral malformations.
- Published in:
- Prenatal Diagnosis, 2006, v. 26, n. 8, p. 755, doi. 10.1002/pd.1489
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- Publication type:
- Article
De novo monosomy 9p24.3-pter and trisomy 17q24.3-qter characterised by microarray comparative genomic hybridisation in a fetus with an increased nuchal translucency.
- Published in:
- Prenatal Diagnosis, 2006, v. 26, n. 3, p. 206, doi. 10.1002/pd.1379
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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
Discordant prenatal diagnosis of trisomy 21 due to mosaic structural rearrangements of chromosome 21.
- Published in:
- Prenatal Diagnosis, 2003, v. 23, n. 6, p. 461, doi. 10.1002/pd.620
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- Publication type:
- Article
Early and Rapid Prenatal Diagnosis of Monosomy 2q36.1 in Trophoblast Cells.
- Published in:
- Fetal Diagnosis & Therapy, 2006, v. 21, n. 5, p. 428, doi. 10.1159/000093885
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- Publication type:
- Article
Prenatal Diagnosis of Primrose Syndrome.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Small Supernumerary Marker Chromosomes in Human Infertility.
- Published in:
- Cytogenetic & Genome Research, 2015, v. 146, n. 2, p. 100, doi. 10.1159/000438718
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- Publication type:
- Article