Results 101 to 110 of about 3,357,239 (197)

Heterozygous Deletion in Exons 4-5 of SHOX Gene in a Patient Diagnosed as Idiopathic Short Stature

, 2017
Introduction: Isolated Short Stature Homeobox (SHOX) gene haploinsufficiency can be found in 2-15% of individuals diagnosed with idiopathic short stature determining different skeletal phenotypes.
Imre Zoltán Kun, Anna David, Zsuzsánna Szántó, Gábor Nyírő, Attila Patócs   +4 more
core   +1 more source

Idiopathic Short Stature [PDF]

, 2020
openaire   +1 more source

[Idiopathic short stature: definition and treatment].

Anales de pediatria (Barcelona, Spain : 2003), 2006
Short stature is the leading cause of consultation in Pediatric Endocrinology. Decreased growth velocity and abnormally short height are characteristic of several different nosologic entities. Some are well characterized, while others correspond to what is known as idiopathic short stature (ISS).
J I, Diago Cabezudo, A, Carrascosa Lezcano, C J, del Valle Núñez, A, Ferrández Longás, R, Gracia Bouthelier, M, Pombo Arias   +5 more
openaire   +1 more source

Genetics of short stature

PURPOSE OF REVIEW: This review highlights recent genetic discoveries and therapeutic advancements in evaluating and managing children with short stature.
Jee, Youn Hee, Navardauskaite, Ruta, Nicolae, Ruxandra   +2 more
core   +1 more source

Familial Idiopathic Short Stature [PDF]

, 2020
openaire   +1 more source

Potential oligogenic disease of mental retardation, short stature, spastic paraparesis and osteopetrosis

, 2018
Abdulaziz Alsemari,1 Mohanned Alsuhaibani,2 Rawabi Alhathlool,1 Bayan Mamdouh Ali1 1Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; 2Department of Radiology, King Faisal Specialist Hospital and ...
Ali BM, Alsemari A, Alsuhaibani M, Alhathlool R   +3 more
core  

New SHOX mutations in patients with idiopathic short stature

, 2009
Mutations of SHOX (Short Stature Homeobox) gene are associated with the short stature in Turner syndrome, Leri-Weill dyschondrosteosis and in some patients (2 to 15%) with idiopathic short stature (ISS).
S. Madeo, R. Bertorelli, PREDIERI, Barbara, P. Appio, A. Forabosco, IUGHETTI, Lorenzo, L. Cavallo, L. Capone, M. El Kholy, T. Arrigo   +9 more
core  

Emerging molecular mechanisms of the ECM-exosome growth-plate axis in idiopathic short stature. [PDF]

Front Cell Dev Biol
Piao L, Wang H, Zhang Q, Li J, Sun H, Sun R, Li M, Wang Y.   +7 more
europepmc   +1 more source

Systematic or targeted molecular screening of SHOX gene variations in children with idiopathic short stature? [PDF]

J Endocr Soc
Pouliquen R, Schmitt S, Gueguen T, Donzeau A, Rouleau S, Emeriau F, Bouhours-Nouet N, Levaillant L, Coutant R.   +8 more
europepmc   +1 more source

The Pygmy short stature enigma

, 2011
The Pygmy populations of Central Africa are known as the shortest human populations worldwide showing an endocrine profile similar to Caucasian individuals with idiopathic short stature.
MEAZZA, CRISTINA, PAGANI, SARA, BOZZOLA, MAURO   +2 more
core