Works matching DE "TRIPLE X syndrome"
Results: 26
Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family.
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- Human Genetics, 2011, v. 129, n. 5, p. 513, doi. 10.1007/s00439-010-0944-y
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- Article
High Myopia Associated with Triple X Syndrome.
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- 2016
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- Case Study
Vocal and gestural productions of 24‐month‐old children with sex chromosome trisomies.
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- International Journal of Language & Communication Disorders, 2018, v. 53, n. 1, p. 171, doi. 10.1111/1460-6984.12334
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- Article
Unusual small supernumerary marker chromosome (sSMC) 9 in a Klinefelter patient.
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- Cytogenetic & Genome Research, 2005, v. 111, n. 2, p. 179, doi. 10.1159/000086390
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- Article
Chromosomal abnormalities predisposing to infertility, testing, and management: a narrative review.
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- Bulletin of the National Research Centre, 2021, v. 45, n. 1, p. 1, doi. 10.1186/s42269-021-00523-z
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- Article
Rare case of massive congenital bilateral chylothorax in a hydropic fetus with true mosaicism 47, XXX/46, XX.
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- Journal of Obstetrics & Gynaecology Research, 2014, v. 40, n. 1, p. 259, doi. 10.1111/jog.12131
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Jejunal atresia in an infant with triple-X syndrome.
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- 2004
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- journal article
Schizencephaly in triple-X syndrome.
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- Pediatrics International, 2001, v. 43, n. 3, p. 296, doi. 10.1046/j.1442-200X.2001.01382.x
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- Article
A Case of Triple X Syndrome Manifesting with the Syndrome of NonverbalLearning Disabilities.
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- Child Neuropsychology, 1998, v. 4, n. 3, doi. 10.1076/chin.4.3.225.3179
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- Article
Novel biallelic ATM mutations coexist with a mosaic form of triple X syndrome in an 11-year-old girl at remission after T cell acute leukemia.
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- 2018
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- Case Study
Sella Turcica Shape in Fragile X Syndrome.
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- In Vivo, 2021, v. 35, n. 6, p. 3581, doi. 10.21873/invivo.12662
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- Article
Structural and numerical changes of chromosome X in patients with esophageal atresia.
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- European Journal of Human Genetics, 2014, v. 22, n. 9, p. 1077, doi. 10.1038/ejhg.2013.295
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- Article
Triple X syndrome: a review of the literature.
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- European Journal of Human Genetics, 2010, v. 18, n. 3, p. 265, doi. 10.1038/ejhg.2009.109
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- Article
The Turner syndrome in patient with 45X/47XXX mosaic karyotype – case report.
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- 2015
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- Case Study
Cytogenetic evaluation of patients with clinical spectrum of Turner syndrome.
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- Journal of Human Reproductive Sciences, 2013, v. 6, n. 2, p. 129, doi. 10.4103/0974-1208.117177
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- Article
Premature ovarian aging in primary infertility: Triple X syndrome.
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- Journal of Human Reproductive Sciences, 2011, v. 4, n. 3, p. 153, doi. 10.4103/0974-1208.92292
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- Article
A Case Associated with Comorbidities Among Cerebral Infarction, Idiopathic Thrombocytopenic Purpura, and Triple X Syndrome.
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- Turkish Journal of Hematology, 2014, v. 31, n. 2, p. 184, doi. 10.4274/tjh.2013.0064
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Autism in association with Triple X syndrome.
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- 2012
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- Letter
PRADER-WILLI SYNDROME WITH ASSOCIATED TRIPLE-X MOSAICISM.
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- Acta Endocrinologica (1841-0987), 2010, v. 6, n. 4, p. 521, doi. 10.4183/aeb.2010.521
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- Article
The psychiatric phenotype in triple X syndrome: New hypotheses illustrated in two cases.
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- Developmental Neurorehabilitation, 2012, v. 15, n. 3, p. 233, doi. 10.3109/17518423.2012.655799
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- Article
Genomic imbalances in pediatric patients with chronic kidney disease.
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- Journal of Clinical Investigation, 2015, v. 125, n. 5, p. 2171, doi. 10.1172/JCI80877
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- Article
A case of torsion of a mucinous cystadenoma in triple-X syndrome with pure gonadal dysgenesis.
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- Archives of Gynecology & Obstetrics, 2006, v. 274, n. 3, p. 174, doi. 10.1007/s00404-005-0116-9
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- Article
Intestinal Atresia, Encephalocele, and Cardiac Malformations in Infants with 47,XXX: Expansion of the Phenotypic Spectrum and a Review of the Literature.
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- Fetal Diagnosis & Therapy, 2010, v. 27, n. 2, p. 113, doi. 10.1159/000284929
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Triple X syndrome: characteristics of 42 Italian girls and parental emotional response to prenatal diagnosis.
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- 2010
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- Publication type:
- journal article
Cross-sectional study shows that impaired bone mineral status and metabolism are found in nonmosaic triple X syndrome.
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- 2017
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- Publication type:
- journal article
Triple X Syndrome Woman Presenting as Premature Ovarian Failure.
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- International Journal of Infertility & Fetal Medicine, 2013, v. 4, n. 3, p. 96, doi. 10.5005/jp-journals-10016-1070
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- Article