Results 41 to 50 of about 4,480,801 (360)

A SHOX géndeletio előfordulása idiopathiás alacsonynövésben [PDF]

, 2017
INTRODUCTION: The isolated haploinsufficiency of the SHOX gene is one of the most common cause of short stature determined by monogenic mutations. The heterozygous deviation of the gene can be detected in 2-15% of patients with idiopathic short stature (
Bertalan R, Butz, Henriett, Csakvary V, David A, Fekete GL, Felszeghy E, Halász, Zita, Hosszú, Éva, Kun I, Luczay, Andrea, Muzsnai A, Nyírő, Gábor, Patocs, Attila, Sallai, Ágnes, Szanto Z, Tar A, Török, Dóra   +16 more
core   +2 more sources

The Challenge of Defining and Investigating the Causes of Idiopathic Short Stature and Finding an Effective Therapy

Hormone Research in Paediatrics, 2019
Idiopathic short stature (ISS) comprises a wide range of conditions associated with short stature that elude the conventional diagnostic work-up and are often caused by still largely unknown genetic variants.
E. Inzaghi, E. Reiter, S. Cianfarani
semanticscholar   +1 more source

Serum Metabonomics Reveals Key Metabolites in Different Types of Childhood Short Stature

Frontiers in Pharmacology, 2022
Graphical AbstractSS, short stature; SDS, standard deviation scores; Control, normal height, n=30; ISS, idiopathic short stature n=31; GHD, short stature caused by growth hormone deficiency, n=29.
Guoyou Chen, Jinming Wang, Yisi Jing, Chunxiang Li, Wenyue Zhang, Shuang Yang, Ye Song, Xin Wang, Jincheng Liu, Dejun Yu, Zhichun Xu   +10 more
doaj   +1 more source

Measured parental height in Turner syndrome—a valuable but underused diagnostic tool [PDF]

, 2017
Early diagnosis of Turner syndrome (TS) is necessary to facilitate appropriate management, including growth promotion. Not all girls with TS have overt short stature, and comparison with parental height (Ht) is needed for appropriate evaluation.
Cizmecioglu, Filiz Mine, Donaldson, Malcolm, Gault, Emma Jane, Jones, Jeremy Huw, Mansour, Chourouk, Mason, Avril, Ouarezki, Yasmine   +6 more
core   +1 more source

Genetic causes of isolated short stature

Archives of Endocrinology and Metabolism, 2019
Short stature is a common feature, and frequently remains without a specific diagnosis after conventional clinical and laboratorial evaluation. Longitudinal growth is mainly determined by genetic factors, and hundreds of common variants have been ...
Gabriela A. Vasques, N. Andrade, A. Jorge   +2 more
semanticscholar   +1 more source

Coping and quality of life of parents of children with achondroplasia—a narrative review

Frontiers in Medicine
BackgroundCaring for individuals with a chronic disease imposes a substantial burden on parents, significantly impacting their quality of life. For parents of children with achondroplasia, caregiving has notable implications for coping mechanisms and ...
Adekunle Adedeji, Adekunle Adedeji, Stefanie Witt, Stefanie Witt, Florian Innig, Inês Alves, Chiara Provasi, Marco Sessa, Klaus Mohnike, Klaus Mohnike, Julia Quitmann, Julia Quitmann   +11 more
doaj   +1 more source

Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene [PDF]

, 2006
Background: Golabi, Ito, and Hall reported a family with X linked mental retardation (XLMR), microcephaly, postnatal growth deficiency, and other anomalies, including atrial septal defect, in 1984.Methods: This family was restudied as part of our ongoing
Abidi, F. E., Echeverri, R., Holloway, L., Lubs, H., Meindl, Alfons, Schwartz, C. E., Stevenson, R. E.   +6 more
core   +2 more sources

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature

Genetics in Medicine, 2017
PurposeShort stature is a common condition of great concern to patients and their families. Mostly genetic in origin, the underlying cause often remains elusive due to clinical and genetic heterogeneity.MethodsWe systematically phenotyped 565 patients ...
Nadine N. Hauer, B. Popp, E. Schoeller, S. Schuhmann, K. Heath, A. Hisado-Oliva, P. Klinger, C. Kraus, U. Trautmann, M. Zenker, C. Zweier, Antje Wiesener, R. Abou Jamra, E. Kunstmann, D. Wieczorek, S. Uebe, F. Ferrazzi, Christian Büttner, A. Ekici, A. Rauch, H. Sticht, H. Dörr, A. Reis, C. Thiel   +23 more
semanticscholar   +1 more source

Optimizing Patient Management and Adherence for Children Receiving Growth Hormone. [PDF]

, 2017
Poor adherence with growth hormone (GH) therapy has been associated with worse clinical outcomes, which in children relates specifically to their linear growth and loss of quality of life.
Carlo L. Acerini, Dagmar Lehwalder, Katarzyna Wac, Peter Bang   +3 more
core   +3 more sources

Clonidine-stimulated growth hormone concentrations (cut-off values) measured by immunochemiluminescent assay (ICMA) in children and adolescents with short stature

Clinics, 2016
OBJECTIVES: To establish cut-off values for growth hormone concentrations using clonidine as a secretagogue and an immunochemiluminescent assay as the method of measurement and to analyze the response time as well as the influence of gender, nutritional ...
Maria de Fátima Borges, Flávia Carolina Cândida Teixeira, Aline Karin Feltrin, Karina Alvarenga Ribeiro, Gabriel Antonio Nogueira Nascentes, Elisabete Aparecida Mantovani Rodrigues Resende, Beatriz Pires Ferreira, Adriana Paula Silva, Heloísa Marcelina Cunha Palhares   +8 more
doaj   +1 more source