Genetic conditions of short stature: A review of three classic examples

MG Butler, BS Miller, A Romano, J Ross… - Frontiers in …, 2022 - frontiersin.org
Noonan, Turner, and Prader-Willi syndromes are classical genetic disorders that are marked
by short stature. Each disorder has been recognized for several decades and is backed by …

Novel insights in Turner syndrome

J Aly, P Kruszka - Current Opinion in Pediatrics, 2022 - journals.lww.com
Novel insights in Turner syndrome : Current Opinion in Pediatrics Novel insights in Turner
syndrome : Current Opinion in Pediatrics Log in or Register Subscribe to journalSubscribe …

Neurodevelopmental and psychiatric disorders in females with Turner syndrome: a population-based study

H Björlin Avdic, A Butwicka, A Nordenström… - Journal of …, 2021 - Springer
Background Turner syndrome is the result of the partial or complete absence of an X
chromosome in phenotypic girls. This can cause an array of medical and developmental …

Turner syndrome: French national diagnosis and care protocol (NDCP; national diagnosis and care protocol)

E Fiot, B Alauze, B Donadille… - Orphanet Journal of …, 2022 - Springer
Abstract Turner syndrome (TS; ORPHA 881) is a rare condition in which all or part of one X
chromosome is absent from some or all cells. It affects approximately one in every 1/2500 …

Recognition and management of adults with Turner syndrome: from the transition of adolescence through the senior years

AE Lin, SK Prakash, NH Andersen… - American Journal of …, 2019 - Wiley Online Library
Turner syndrome is recognized now as a syndrome familiar not only to pediatricians and
pediatric specialists, medical geneticists, adult endocrinologists, and cardiologists, but also …

Associations of psychiatric disorders with sex chromosome aneuploidies in the Danish iPSYCH2015 dataset: a case-cohort study

XC Sánchez, S Montalbano, M Vaez, MD Krebs… - The Lancet …, 2023 - thelancet.com
Background Increased prevalence of mental illness has been reported in clinical studies of
sex chromosome aneuploidies, but accurate population-based estimates of the prevalence …

Reduced effects of social feedback on learning in Turner syndrome

H Björlin Avdic, C Strannegård, H Engberg… - Scientific Reports, 2023 - nature.com
Turner syndrome is a genetic condition caused by a complete or partial loss of one of the X
chromosomes. Previous studies indicate that Turner syndrome is associated with challenges …

Neuropsychological and mental health concerns in a multicenter clinical sample of youth with turner syndrome

J Kremen, SM Davis, L Nahata… - American Journal of …, 2023 - Wiley Online Library
Clinical practice guidelines for individuals with Turner syndrome (TS) recommend screening
for neuropsychological concerns (NC) and mental health concerns (MHC). However, current …

Cognitive profile in adult women with turner syndrome: IQ split and associations with ADHD and ASD

H Björlin Avdic, JL Kleberg, M van der Poll… - Cognitive …, 2023 - Taylor & Francis
Introduction The behavioural phenotype in Turner syndrome (TS) is associated with an
uneven cognitive profile and social and executive difficulties. Still, studies in adult …

Turner's syndrome mosaicism in girls with neurodevelopmental disorders: a cohort study and hypothesis

SG Vorsanova, AD Kolotii, OS Kurinnaia… - Molecular …, 2021 - Springer
Background Turner's syndrome is associated with either monosomy or a wide spectrum of
structural rearrangements of chromosome X. Despite the interest in studying (somatic) …