Found: 28
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Identification of human candidate genes for male infertility by digital differential display.
- Published in:
- Molecular Human Reproduction, 2001, v. 7, n. 1, doi. 10.1093/molehr/7.1.11
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- Publication type:
- Article
Genetic Counselling Pitfall: Co-Occurrence of an 11.8-Mb Xp22 Duplication and an Xp21.2 Duplication Disrupting IL1RAPL1.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 6, p. 325, doi. 10.1159/000479455
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- Publication type:
- Article
Is sperm FISH analysis still useful for Robertsonian translocations? Meiotic analysis for 23 patients and review of the literature.
- Published in:
- Basic & Clinical Andrology, 2018, v. 28, n. 1, p. N.PAG, doi. 10.1186/s12610-018-0069-z
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- Publication type:
- Article
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63476
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- Article
Phenotypic characterization of seven individuals with Marbach–Schaaf neurodevelopmental syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2627, doi. 10.1002/ajmg.a.62884
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- Publication type:
- Article
Cutis laxa and excessive bone growth due to de novo mutations in <italic>PTDSS1</italic>.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 668, doi. 10.1002/ajmg.a.38604
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- Publication type:
- Article
Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3063, doi. 10.1002/ajmg.a.36162
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- Publication type:
- Article
A Comparative Phenotypic Study of Kallmann Syndrome Patients Carrying Monoallelic and Biallelic Mutations in the Prokineticin 2 or Prokineticin Receptor 2 Genes.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 2, p. 659, doi. 10.1210/jc.2009-0843
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- Article
Severe Phenotype in Patients with Large Deletions of NF1.
- Published in:
- Cancers, 2021, v. 13, n. 12, p. 2963, doi. 10.3390/cancers13122963
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- Article
Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 4, p. 454, doi. 10.1038/ejhg.2008.214
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- Publication type:
- Article
Breakpoint mapping and complete analysis of meiotic segregation patterns in three men heterozygous for paracentric inversions.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 44, doi. 10.1038/ejhg.2008.144
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- Publication type:
- Article
Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 7, p. 865, doi. 10.1038/ejhg.2008.15
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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
High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes.
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- European Journal of Human Genetics, 2000, v. 8, n. 9, p. 661, doi. 10.1038/sj.ejhg.5200512
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- Publication type:
- Article
Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration.
- Published in:
- Reproductive Biology & Endocrinology, 2010, v. 8, p. 28, doi. 10.1186/1477-7827-8-28
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- Publication type:
- Article
Possible incomplete penetrance of Xq28 int22h‐1/int22h‐2 duplication.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 3, p. 234, doi. 10.1111/cge.14525
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- Publication type:
- Article
Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 4, p. 405, doi. 10.1111/cge.14020
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- Article
Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders.
- Published in:
- 2019
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- Publication type:
- journal article
Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2.
- Published in:
- PLoS Genetics, 2006, v. 3, n. 4, p. 1648, doi. 10.1371/journal.pgen.0020175
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- Article
Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study.
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- 2016
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- Publication type:
- journal article
Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome.
- Published in:
- Prenatal Diagnosis, 2010, v. 30, n. 11, p. 1072, doi. 10.1002/pd.2613
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- Publication type:
- Article
DNA repair functional analyses of NBN hypomorphic variants associated with NBN‐related infertility.
- Published in:
- Human Mutation, 2020, v. 41, n. 3, p. 608, doi. 10.1002/humu.23955
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- Publication type:
- Article
Non- USH2A mutations in USH2 patients.
- Published in:
- Human Mutation, 2012, v. 33, n. 3, p. 504, doi. 10.1002/humu.22004
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- Article
Fertility defects revealing germline biallelic nonsense NBN mutations.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. 424, doi. 10.1002/humu.20904
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- Publication type:
- Article
Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing.
- Published in:
- Human Mutation, 2009, v. 30, n. 2, p. E320, doi. 10.1002/humu.20888
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- Publication type:
- Article
Clonal expansion of mutated mitochondrial DNA is associated with tumor formation and complex I deficiency in the benign renal oncocytoma.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 7, p. 986, doi. 10.1093/hmg/ddm371
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- Publication type:
- Article
Non-disjunction of chromosome 13.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 16, p. 2004, doi. 10.1093/hmg/ddm148
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- Publication type:
- Article
Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein.
- Published in:
- Human Mutation, 2002, v. 20, n. 1, p. 35, doi. 10.1002/humu.10092
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- Publication type:
- Article