Found: 47
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KDM1A genotyping and expression in 146 sporadic somatotroph pituitary adenomas.
- Published in:
- European Journal of Endocrinology, 2024, v. 190, n. 2, p. 173, doi. 10.1093/ejendo/lvae013
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- Publication type:
- Article
Critical contribution of mitochondria in the development of cardiomyopathy linked to desmin mutation.
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- Stem Cell Research & Therapy, 2024, v. 15, n. 1, p. 1, doi. 10.1186/s13287-023-03619-7
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- Publication type:
- Article
Copy number variations analysis in a cohort of 47 fetuses and newborns with congenital diaphragmatic hernia.
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- Prenatal Diagnosis, 2022, v. 42, n. 13, p. 1627, doi. 10.1002/pd.6268
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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
Quel visage pour l’assistance médicale à la procréation avec tiers donneur après le vote de la loi de bioéthique 2021 ? Le questionnement des biologistes des centres d’étude et de conservation des oeufs et du sperme.
- Published in:
- Médecine de la Reproduction, 2022, v. 24, n. 3, p. 288, doi. 10.1684/mte.2023.0912
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- Publication type:
- Article
Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1645
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- Publication type:
- Article
Early prenatal diagnosis of alveolar capillary dysplasia with misalignment of pulmonary veins due to a 16q24.1 deletion.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1494, doi. 10.1002/ajmg.a.62105
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- Publication type:
- Article
A case of germline mosaicism for a 7q32.1q33 deletion in a sperm donor: consequences on pregnancy follow-up and recommendations.
- Published in:
- Basic & Clinical Andrology, 2020, v. 30, n. 1, p. N.PAG, doi. 10.1186/s12610-020-00113-5
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- Publication type:
- Article
Le don de gamètes en France : état des lieux, réflexions sur l'anonymat, la levée du secret sur le mode de conception et l'intérêt des données non identifiantes.
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- Médecine de la Reproduction, 2020, v. 22, n. 3, p. 241
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- Publication type:
- Article
Hypermethylator Phenotype and Ectopic GIP Receptorin GNAS Mutation-Negative Somatotropinomas.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2019, v. 104, n. 5, p. 1777, doi. 10.1210/jc.2018-01504
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- Publication type:
- Article
Hypermethylator Phenotype and Ectopic GIP Receptor in GNAS Mutation-Negative Somatotropinomas.
- Published in:
- 2018
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- Publication type:
- journal article
Genomic Alterations and Complex Subclonal Architecture in Sporadic GH-Secreting Pituitary Adenomas.
- Published in:
- 2018
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- Publication type:
- journal article
WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1690, doi. 10.1002/ajmg.a.38206
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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
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
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
Human embryonic stem cell-derived cardiac progenitors for severe heart failure treatment: first clinical case report.
- Published in:
- European Heart Journal, 2015, v. 36, n. 30, p. 2011, doi. 10.1093/eurheartj/ehv189
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- Publication type:
- Article
Genomic instability of human embryonic stem cell lines using different passaging culture methods.
- Published in:
- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0133-8
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- Publication type:
- Article
Towards a clinical use of human embryonic stem cell-derived cardiac progenitors: a translational experience.
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- European Heart Journal, 2015, v. 36, n. 12, p. 743, doi. 10.1093/eurheartj/ehu192
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- Publication type:
- Article
An Atypical Human Induced Pluripotent Stem Cell Line With a Complex, Stable, and Balanced Genomic Rearrangement Including a Large De Novo 1q Uniparental Disomy.
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- Stem Cells Translational Medicine, 2015, v. 4, n. 3, p. 224, doi. 10.5966/sctm.2014-0186
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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
Messenger RNA- Versus Retrovirus-Based Induced Pluripotent Stem Cell Reprogramming Strategies: Analysis of Genomic Integrity.
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- Stem Cells Translational Medicine, 2014, v. 3, n. 6, p. 686, doi. 10.5966/sctm.2013-0158
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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
Integration-deficient lentivectors: an effective strategy to purify and differentiate human embryonic stem cell-derived hepatic progenitors.
- Published in:
- BMC Biology, 2013, v. 11, n. 1, p. 1, doi. 10.1186/1741-7007-11-86
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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
Tetrasomy 13q31.1qter due to an inverted duplicated neocentric marker chromosome in a fetus with multiple malformations.
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- 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
Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism.
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- 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
Array Comparative Genomic Hybridization Profiling Analysis Reveals Deoxyribonucleic Acid Copy Number Variations Associated with Premature Ovarian Failure.
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- Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 11, p. 4540, doi. 10.1210/jc.2009-0186
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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.
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- 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
Human embryonic stem cells reveal recurrent genomic instability at 20q11.21.
- Published in:
- Nature Biotechnology, 2008, v. 26, n. 12, p. 1364, doi. 10.1038/nbt.1509
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- Publication type:
- Article
Fear of Pregnancy Loss and Fetal Karyotyping: A Place for Third-Trimester Amniocentesis?
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- Fetal Diagnosis & Therapy, 2008, v. 23, n. 1, p. 30, doi. 10.1159/000109223
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- Publication type:
- Article
Coelomic fluid analysis: the absolute necessity to prove its fetal origin.
- Published in:
- Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2008, v. 16, n. 1, p. 148, doi. 10.1016/S1472-6483(10)60568-8
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- Publication type:
- Article
Early and Rapid Prenatal Diagnosis of Monosomy 2q36.1 in Trophoblast Cells.
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- Fetal Diagnosis & Therapy, 2006, v. 21, n. 5, p. 428, doi. 10.1159/000093885
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- Publication type:
- 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.
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- Prenatal Diagnosis, 2006, v. 26, n. 3, p. 206, doi. 10.1002/pd.1379
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- Publication type:
- Article
Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 3, p. 278, doi. 10.1038/sj.ejhg.5201342
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- Publication type:
- Article
Double-outlet right ventricle with absent left ventricle and mitral atresia in a fetus with a deletion 22q12.
- Published in:
- Prenatal Diagnosis, 2004, v. 24, n. 9, p. 708, doi. 10.1002/pd.970
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- Publication type:
- Article
Etiology and outcome of fetal echogenic bowel. Ten years of experience.
- Published in:
- 2003
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- Publication type:
- journal article
Etiology and Outcome of Fetal Echogenic Bowel.
- Published in:
- Fetal Diagnosis & Therapy, 2003, v. 18, n. 4, p. 240, doi. 10.1159/000070803
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- Publication type:
- Article
Discordant prenatal diagnosis of trisomy 21 due to mosaic structural rearrangements of chromosome 21.
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- Prenatal Diagnosis, 2003, v. 23, n. 6, p. 461, doi. 10.1002/pd.620
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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
Transcriptional Expression of Genes Involved in Cell Invasion and Migration by Normal and Tumoral Trophoblast Cells.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2002, v. 87, n. 11, p. 5336, doi. 10.1210/jc.2002-021093
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- Publication type:
- Article
Prenatal diagnosis of Crigler-Najjar syndrome type I by single-strand conformation polymorphism (SSCP).
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- Prenatal Diagnosis, 2002, v. 22, n. 10, p. 914, doi. 10.1002/pd.443
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- Publication type:
- Article
Clinical applications of fetal sex determination in maternal blood in a preimplantation genetic diagnosis centre.
- Published in:
- 2002
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- Publication type:
- journal article
Birth of healthy female twins after preimplantation genetic diagnosis of cystic fibrosis combined with gender determination.
- Published in:
- Molecular Human Reproduction, 2002, v. 8, n. 7, p. 688, doi. 10.1093/molehr/8.7.688
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- Publication type:
- Article
Assisting reproduction of infertile men carrying a Robertsonian translocation.
- Published in:
- 2001
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- Publication type:
- journal article
Analysis of uncultured amniocytes by comparative genomic hybridization: a prospective prenatal study.
- Published in:
- Prenatal Diagnosis, 2000, v. 20, n. 2, p. 123, doi. 10.1002/(SICI)1097-0223(200002)20:2<123::AID-PD762>3.0.CO;2-B
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- Publication type:
- Article