Found: 45
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Chromosomal segregation in spermatozoa of 14 Robertsonian translocation carriers.
- Published in:
- Molecular Human Reproduction, 2006, v. 12, n. 3, p. 209, doi. 10.1093/molehr/gah253
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- Publication type:
- Article
Preimplantation genetic diagnosis and sperm analysis by fluorescence in-situ hybridization for the most common reciprocal translocation t(11;22).
- Published in:
- Molecular Human Reproduction, 1999, v. 5, n. 7, p. 682, doi. 10.1093/molehr/5.7.682
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- Publication type:
- Article
Clinical experience of sex determination by fluorescent in-situ hybridization for preimplantation genetic diagnosis.
- Published in:
- Molecular Human Reproduction, 1999, v. 5, n. 4, p. 382, doi. 10.1093/molehr/5.4.382
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- Publication type:
- Article
Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 10, p. 1, doi. 10.1002/mgg3.1776
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- Publication type:
- Article
Sertoli Cell-Only Syndrome: Behind the Genetic Scenes.
- Published in:
- BioMed Research International, 2016, v. 2016, p. 1, doi. 10.1155/2016/6191307
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- Publication type:
- Article
DIDA: A curated and annotated digenic diseases database.
- Published in:
- Nucleic Acids Research, 2016, v. 44, p. D900, doi. 10.1093/nar/gkv1068
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- Publication type:
- Article
Chromosome fragility at FRAXA in human cleavage stage embryos at risk for fragile X syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2306, doi. 10.1002/ajmg.a.37149
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- Publication type:
- Article
Mutations in the gene encoding the latency-associated peptide of TGF-β1 cause Camurati-Engelmann disease.
- Published in:
- Nature Genetics, 2000, v. 26, n. 3, p. 273, doi. 10.1038/81563
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- Article
The genetics of familial adenomatous polyposis (FAP) and MutYH-associated polyposis (MAP).
- Published in:
- Acta Gastro-Enterologica Belgica, 2011, v. 74, n. 3, p. 421
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- Publication type:
- Article
BRCA 1/2 Gene Mutation Testing-based Cancer Prevention and the Moral Concerns of Different Types of Patients.
- Published in:
- Annals of the New York Academy of Sciences, 1999, v. 889, n. 1, p. 240, doi. 10.1111/j.1749-6632.1999.tb08740.x
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- Publication type:
- Article
Erratum to: Health of 2-year-old children born after vitrified oocyte donation in comparison with peers born after fresh oocyte donation.
- Published in:
- 2021
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- Publication type:
- Correction Notice
Health of 2-year-old children born after vitrified oocyte donation in comparison with peers born after fresh oocyte donation.
- Published in:
- Human Reproduction Open, 2021, v. 2021, n. 1, p. 1, doi. 10.1093/hropen/hoab002
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- Publication type:
- Article
Growth and other health outcomes of 2-year-old singletons born after IVM versus controlled ovarian stimulation in mothers with polycystic ovary syndrome.
- Published in:
- Human Reproduction Open, 2020, v. 2020, n. 1, p. N.PAG, doi. 10.1093/hropen/hoz043
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- Publication type:
- Article
A new double substitution mutation in the MEN1 gene: a limited penetrance and a specific phenotype.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 6, p. 695, doi. 10.1038/ejhg.2012.241
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- Publication type:
- Article
Preimplantation genetic diagnosis in female and male carriers of reciprocal translocations: clinical outcome until delivery of 312 cycles.
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- European Journal of Human Genetics, 2012, v. 20, n. 4, p. 376, doi. 10.1038/ejhg.2011.208
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- Publication type:
- Article
Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients.
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- European Journal of Human Genetics, 2010, v. 18, n. 8, p. 872, doi. 10.1038/ejhg.2010.23
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- Publication type:
- Article
Erratum to: Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients.
- Published in:
- 2010
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- Publication type:
- Correction Notice
Preimplantation genetic diagnosis for myotonic dystrophy type 1: upon request to child.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1403, doi. 10.1038/ejhg.2009.56
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- Publication type:
- Article
Clinical outcome of preimplantation genetic diagnosis for cystic fibrosis: the Brussels' experience.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 7, p. 752, doi. 10.1038/sj.ejhg.5201834
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- Publication type:
- Article
An excess of chromosome 1 breakpoints in male infertility.
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- European Journal of Human Genetics, 2004, v. 12, n. 12, p. 993, doi. 10.1038/sj.ejhg.5201263
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- Publication type:
- Article
Preimplantation genetic diagnosis for Huntington's disease with exclusion testing.
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- European Journal of Human Genetics, 2002, v. 10, n. 10, p. 591, doi. 10.1038/sj.ejhg.5200865
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- Publication type:
- Article
Hereditary breast and ovarian cancer and reproduction: an observational study on the suitability of preimplantation genetic diagnosis for both asymptomatic carriers and breast cancer survivors.
- Published in:
- Breast Cancer Research & Treatment, 2014, v. 145, n. 3, p. 673, doi. 10.1007/s10549-014-2951-5
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- Publication type:
- Article
Preimplantation genetic testing for aneuploidy by microarray analysis of polar bodies in advanced maternal age: a randomized clinical trial.
- Published in:
- 2018
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- Publication type:
- journal article
Reproductive hormones of ICSI-conceived young adult men: the first results.
- Published in:
- 2017
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- Publication type:
- journal article
Prospective follow-up of 838 fetuses conceived after ovarian stimulation with corifollitropin alfa: comparative and overall neonatal outcome.
- Published in:
- Human Reproduction, 2012, v. 27, n. 7, p. 2177, doi. 10.1093/humrep/des156
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- Publication type:
- Article
ORIGINAL ARTICLE Identification of a Lethal Form of Epidermolysis Bullosa Simplex Associated with a Homozygous Genetic Mutation in Plectin.
- Published in:
- Journal of Investigative Dermatology, 2003, v. 121, n. 6, p. 1344, doi. 10.1111/j.1523-1747.2003.12639.x
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- Publication type:
- Article
Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families.
- Published in:
- 2019
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- Publication type:
- journal article
The mental, motor, socio-emotional and language development of 2-year-old twins born after PGD/PGS and parental well-being.
- Published in:
- Human Reproduction, 2012, v. 27, n. 1, p. 299, doi. 10.1093/humrep/der352
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- Publication type:
- Article
Neonatal follow-up of 995 consecutively born children after embryo biopsy for PGD.
- Published in:
- Human Reproduction, 2012, v. 27, n. 1, p. 288, doi. 10.1093/humrep/der360
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- Publication type:
- Article
Are ICSI adolescents at risk for increased adiposity?
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- Human Reproduction, 2012, v. 27, n. 1, p. 257, doi. 10.1093/humrep/der375
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- Publication type:
- Article
Large prospective, pregnancy and infant follow-up trial assures the health of 1000 fetuses conceived after treatment with the GnRH antagonist ganirelix during controlled ovarian stimulation.
- Published in:
- 2010
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- Publication type:
- journal article
A proposal for reproductive counselling in carriers of Robertsonian translocations: 10 years of experience with preimplantation genetic diagnosis.
- Published in:
- Human Reproduction, 2009, v. 24, n. 9, p. 2365, doi. 10.1093/humrep/dep201
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- Publication type:
- Article
Two-year auxological and medical outcome of singletons born after embryo biopsy applied in preimplantation genetic diagnosis or preimplantation genetic screening.
- Published in:
- Human Reproduction, 2009, v. 24, n. 2, p. 470, doi. 10.1093/humrep/den402
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- Publication type:
- Article
Socio-emotional and language development of 2-year-old children born after PGD/PGS, and parental well-being.
- Published in:
- Human Reproduction, 2008, v. 23, n. 8, p. 1849, doi. 10.1093/humrep/den179
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- Publication type:
- Article
Mental and psychomotor development of 2-year-old children born after preimplantation genetic diagnosis/screening.
- Published in:
- Human Reproduction, 2008, v. 23, n. 7, p. 1560, doi. 10.1093/humrep/den033
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- Publication type:
- Article
Prenatal testing in ICSI pregnancies: incidence of chromosomal anomalies in 1586 karyotypes and relation to sperm parameters.
- Published in:
- 2002
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- Publication type:
- journal article
Neonatal data on a cohort of 2889 infants born after ICSI (1991-1999) and of 2995 infants born after IVF (1983-1999).
- Published in:
- 2002
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- Publication type:
- journal article
Andrology. Correlation between semen parameters and sperm aneuploidy rates investigated by fluorescence in-situ hybridization in infertile men.
- Published in:
- Human Reproduction, 2000, v. 15, n. 2, p. 351, doi. 10.1093/humrep/15.2.351
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- Publication type:
- Article
Pregnancy. Obstetric outcome of pregnancies after the transfer of cryopreserved and fresh embryos obtained by conventional in-vitro fertilization and intracytoplasmic sperm injection.
- Published in:
- Human Reproduction, 1999, v. 14, n. 10, p. 2619, doi. 10.1093/humrep/14.10.2619
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- Publication type:
- Article
Seven years of intracytoplasmic sperm injection and follow-up of 1987 subsequent children.
- Published in:
- Human Reproduction, 1999, v. 14, n. suppl_1, p. 243, doi. 10.1093/humrep/14.suppl_1.243
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- Publication type:
- Article
Genetics: Testicular sperm recovery in nine 47,XXY Klinefelter patients.
- Published in:
- Human Reproduction, 1996, v. 11, n. 8, p. 1644, doi. 10.1093/oxfordjournals.humrep.a019462
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- Publication type:
- Article
Cystic fibrosis and infertility caused by congenital bilateral absence of the vas deferens and related clinical entities.
- Published in:
- Human Reproduction, 1996, v. 11, n. suppl_4, p. 55, doi. 10.1093/humrep/11.suppl_4.55
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- Publication type:
- Article
The impact of an interventional counselling procedure in families with a BRCA1/2 gene mutation: efficacy and safety.
- Published in:
- Familial Cancer, 2016, v. 15, n. 2, p. 155, doi. 10.1007/s10689-015-9854-4
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- Publication type:
- Article
More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome.
- Published in:
- Human Mutation, 2021, v. 42, n. 6, p. 711, doi. 10.1002/humu.24199
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- Publication type:
- Article
Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases.
- Published in:
- Human Mutation, 1999, v. 13, n. 1, p. 54, doi. 10.1002/(SICI)1098-1004(1999)13:1<54::AID-HUMU6>3.0.CO;2-K
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- Publication type:
- Article