Turner syndrome: updating the paradigm of clinical care

JE Pinsker - The Journal of Clinical Endocrinology & …, 2012 - academic.oup.com
Context: Turner syndrome (TS), in which there is loss of all or part of one sex chromosome,
occurs in one in 2500 live-born females and is associated with characteristic findings …

[HTML][HTML] Maternal body mass index and risk of congenital heart defects in infants: a dose-response meta-analysis

X Liu, G Ding, W Yang, X Feng, Y Li, H Liu… - BioMed Research …, 2019 - hindawi.com
Objective. The exact shape of the dose-response relationship between maternal body mass
index (BMI) and the risk of congenital heart defects (CHDs) in infants has not been clearly …

[HTML][HTML] Population prevalence, cancer risk, and mortality risk of Turner syndrome in South Korean women based on national health insurance service data

SE Kim, SH Park, K Han, WK Cho, BK Suh… - Yonsei Medical …, 2022 - ncbi.nlm.nih.gov
Purpose In South Korea, investigations into Turner syndrome (TS) prevalence and TS-
associated cancer and mortality are lacking. Accurate data were estimated from the National …

Turner syndrome and genetic polymorphism: a systematic review

ABT Marqui - Revista Paulista de Pediatria, 2015 - SciELO Brasil
Objetivo: Apresentar os principais resultados dos estudos que investigaram polimorfismos
genéticos em síndrome de Turner, bem como sua associação com alguns sinais clínicos e …

Clinical findings and follow-up of 46, XY and 45, X/46, XY testicular dysgenesis

JGR Andrade, H Fabbri-Scallet, AP Dos Santos… - Sexual …, 2020 - karger.com
Historically, the terms partial (PGD) and mixed gonadal dysgenesis (MGD) have been used
to describe incomplete testicular differentiation in individuals with 46, XY or 45, X/46, XY …

New approach to phenotypic variability and karyotype-phenotype correlation in Turner syndrome

J Miguel-Neto, AB Carvalho… - Journal of Pediatric …, 2016 - degruyter.com
Abstract Background: Phenotypic variability of Turner syndrome (TS) challenges clinicians,
and undiagnosed mosaicism may lead to conflicting results of karyotype-phenotype …

Anatomy of turner syndrome

A Granger, A Zurada, A Zurada‐Zielińska… - Clinical …, 2016 - Wiley Online Library
Turner syndrome (TS) is one of the most common sex chromosome abnormalities and
results from total or partial monosomy of the X chromosome. It occurs in 1 in 2000 newborn …

Psychosocial characteristics of women with a delayed diagnosis of Turner syndrome

GE Reimann, MMB Perman, PS Ho, RA Parks… - The Journal of …, 2018 - Elsevier
Objectives To characterize the psychosocial profiles of adult women diagnosed with Turner
syndrome before (early diagnosis) and at or after (late diagnosis) 13 years of age. Study …

Síndrome de Turner e polimorfismo genético: uma revisão sistemática

ABT Marqui - Revista Paulista de Pediatria, 2015 - SciELO Brasil
Objetivo: Apresentar os principais resultados dos estudos que investigaram polimorfismos
genéticos em síndrome de Turner, bem como sua associação com alguns sinais clínicos e …

Congenital heart disease and chromossomopathies detected by the karyotype

P Trevisan, RFM Rosa, DB Koshiyama… - Revista Paulista de …, 2014 - SciELO Brasil
OBJECTIVE: To review the relationship between congenital heart defects and chromosomal
abnormalities detected by the karyotype. DATA SOURCES: Scientific articles were searched …