A review of trisomy X (47,XXX) - Wikidata - awgldk - TriplyDB

A review of trisomy X (47,XXX)

A review of trisomy X (47,XXX)

http://www.wikidata.org/entity/Q21093168

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Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women Genetics of primary ovarian insufficiency: new developments and opportunities The pseudoautosomal region and sex chromosome aneuploidies in domestic species "How should I tell my child?" Disclosing the diagnosis of sex chromosome aneuploidies.The psychiatric phenotype in triple X syndrome: new hypotheses illustrated in two cases Generalized epilepsy in a patient with mosaic Turner syndrome: a case report.Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing Monogenic and chromosomal causes of isolated speech and language impairment.Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies.A case-control study of brain structure and behavioral characteristics in 47,XXX syndrome.Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia Genes that escape from X inactivation.Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis.45,X/47,XXX Mosaicism and Short Stature.Mammalian X chromosome inactivation evolved as a dosage-compensation mechanism for dosage-sensitive genes on the X chromosome.The eXtraordinarY Kids Clinic: an interdisciplinary model of care for children and adolescents with sex chromosome aneuploidy.Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing Population Everyday executive functions in Down syndrome from early childhood to young adulthood: evidence for both unique and shared characteristics compared to youth with sex chromosome trisomy (XXX and XXY).Human gene copy number spectra analysis in congenital heart malformations Triple x syndrome with short stature: case report and literature review.An examination of the relationship of anxiety and intelligence to adaptive functioning in children with chromosome 22q11.2 deletion syndrome Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders.X-chromosome inactivation and escape.X Chromosome Dose and Sex Bias in Autoimmune Diseases: Increased Prevalence of 47,XXX in Systemic Lupus Erythematosus and Sjögren's Syndrome Clinical evaluation of the IONA test: a non-invasive prenatal screening test for trisomies 21, 18 and 13.Genes that escape X-inactivation in humans have high intraspecific variability in expression, are associated with mental impairment but are not slow evolving.High Myopia Associated with Triple X Syndrome The great escape: Active genes on inactive sex chromosomes and their evolutionary implications The Genetics of Infertility: Current Status of the Field.A retrospective chromosome studies among Iranian infertile women: Report of 21 years Premature ovarian failure: a critical condition in the reproductive potential with various genetic causes.Genetic aspects of premature ovarian failure: a literature review.Double trisomy 48,XXX,+18 with multiple dysmorphic features.Only a minority of sex chromosome abnormalities are detected by a national prenatal screening program for Down syndrome.Cognitive, behavioral, and neural consequences of sex chromosome aneuploidy.Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study.Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study.Tall stature: a difficult diagnosis?A case of 45,X/47,XXX mosaic Turner syndrome with limb length discrepancy.

P2860

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P2860

A review of trisomy X (47,XXX)

http://www.wikidata.org/entity/Q21093168

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2010 nî lūn-bûn

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2010 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2010 թվականի մայիսին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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A review of trisomy X (47,XXX)

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A review of trisomy X (47,XXX)

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A review of trisomy X (47,XXX)

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A review of trisomy X (47,XXX)

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Orphanet Journal of Rare Diseases

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A review of trisomy X (47,XXX)

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Ashley Sutherland

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Lennie Wilson

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Rebecca Wilson

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Creative Commons Attribution 2.0 Generic

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A new look at XXYY syndrome: medical and psychological features

Xist and the order of silencing

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

Sex chromosome tetrasomy and pentasomy

47,XXX in an adolescent with premature ovarian failure and autoimmune disease.

Prevalence of the triple X syndrome in phenotypically normal women with premature ovarian failure and its association with autoimmune thyroid disorders.

Fertility in 47,XXX and 45,X patients.

Long-term outcome in children of sex chromosome abnormalities.

Life adaptation in 35 adults with sex chromosome abnormalities.

Neurobehavioral phenotype of Klinefelter syndrome.

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Nicole Tartaglia

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genetic variation

sex chromosome aberration

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