Results 141 to 150 of about 3,414,711 (270)

Non-familial Idiopathic Short Stature [PDF]

, 2020
openaire   +1 more source

ACAN mutations as a cause of familial short stature. [PDF]

Clin Pediatr Endocrinol, 2017
Dateki S.
europepmc   +1 more source

Sleep Disorders in Klinefelter Syndrome and Other Sex Chromosome Aneuploidies: A Narrative Review

Andrology, EarlyView.
ABSTRACT Background Sex chromosome aneuploidies (SCAs) are among the most frequent types of chromosomal aneuploidies and include Klinefelter syndrome (47,XXY and higher‐grade variants), 47,XYY syndrome, Turner syndrome (45,X), and trisomy X (47,XXX).
Roberto Paparella, Fabiola Panvino, Ida Pucarelli, Luigi Tarani   +3 more
wiley   +1 more source

Tall stature in familial glucocorticoid deficiency

, 2000
Familial glucocorticoid deficiency (FGD) has frequently been associated with tall stature in affected individuals. The clinical, biochemical and genetic features of five such patients were studied with the aim of clarifying the underlying mechanisms of ...
Warne, G, Savage, M, MANCA BITTI, MARIA LUISA, Clayton, P, Canas, A, Clark, A., Metherell, L, Huebner, A, CIANFARANI, STEFANO, Elias, L   +9 more
core   +1 more source

Genomic interrogation of familial short stature contributes to the discovery of the pathophysiological mechanisms and pharmaceutical drug repositioning. [PDF]

J Biomed Sci, 2019
Wong HS, Lin YJ, Lu HF, Liao WL, Chen CH, Wu JY, Chang WC, Tsai FJ.   +7 more
europepmc   +1 more source

Bone Health and Aging in Klinefelter Syndrome

Andrology, EarlyView.
ABSTRACT Klinefelter syndrome (KS) is typically diagnosed in young adults, but advances in prenatal testing have led to its recognition at a much earlier age. Conversely, diagnosis in late adulthood remains uncommon, but still occurs. Independently from the age at diagnosis, KS individuals now receive more accurate and tailored care management than in ...
Filippo Vignali, Daniele Renda Livraghi, Francesco Costantino, Sara De Vincentis, Vincenzo Rochira   +4 more
wiley   +1 more source

17p13.1 Microduplication Syndrome in a Child, Familial Short Stature, and Growth Hormone Deficiency: A Case Report and Review of the Literature. [PDF]

Mol Syndromol, 2019
Leka-Emiri S, Petrou V, Manolakos E, Thomaidis L, Fotinou A, Vlachopapadopoulou E, Michalacos S.   +6 more
europepmc   +1 more source

Snapshots from a Fast‐Moving Train: Religious History 1960–2025

Journal of Religious History, EarlyView.
Alexandra Walsham
wiley   +1 more source

The Need for a Global Registry for Charting the Natural History of Klinefelter Syndrome

Andrology, EarlyView.
ABSTRACT Background Although Klinefelter Syndrome (KS) represents the most common sex chromosome aneuploidy, several gaps in knowledge persist regarding optimal management of individuals with this condition. Individuals with KS can have a diverse phenotype including endocrine, neurodevelopmental, and cardiovascular manifestations.
Malika Alimussina, Joseph McElvaney, Corinna Grasemann, Jillian Bryce, Lise Aksglaede, Claudia Boettcher, Lexi Breen, Francesco Carlomagno, Sabine Hannema, Andrea M. Isidori, Inas Mazen, Anna Nordenstrom, S. Faisal Ahmed, Angela K. Lucas‐Herald   +13 more
wiley   +1 more source

Rich and slim, but relatively short Explaining the halt in the secular trend in Japan [PDF]

An almost complete halt in the secular trend in stature at a relatively low level is observed in Japan since the late 1980s with average height of around 171 cm for males and 158 cm for females at age 18.
Kato, Noriko, Bassino, Jean-Pascal
core