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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
abnormalities detected by the karyotype. DATA SOURCES: Scientific articles were searched …