Results 41 to 50 of about 2,695,903 (393)

Clinical and speech, hearing and language pathology manifestations on Turner Syndrome: bibliographical study [PDF]

, 2011
TEMA: síndrome genética e achados fonoaudiológicos. OBJETIVO: descrever as manifestações clínicas e fonoaudiológicas em indivíduos com a Síndrome de Turner CONCLUSÃO: foram levantados 23 artigos sobre a Síndrome de Turner dos quais 7 discorriam sobre a ...
Abramides, Dagma Venturini Marques, Mandelli, Suhamy Aline   +1 more
core   +1 more source

Association between cytogenetic alteration and the audiometric profile of individuals with Turner syndrome

Brazilian Journal of Otorhinolaryngology, 2021
Introduction: Turner syndrome is a frequent genetic disorder that affects female individuals and covers a large phenotypic variability. Scientific literature suggests an association between hearing loss and Turner syndrome, but it remains a controversial
Martha Marcela de Matos Bazilio, Adriana Fernandes Duarte dos Santos, Fernanda Gomes de Almeida, Silvana Frota, Marília Guimarães, Márcia Gonçalves Ribeiro   +5 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

A single-center’s uric acid profile in girls with Turner syndrome [PDF]

Front Endocrinol (Lausanne)
Song Guo, Qiuli Chen, Jun Zhang, M. Z. Wei, Rujiang Zheng, Bing Wang, Yanhong Li, Huamei Ma, Xiaoyun Jiang   +8 more
openalex   +2 more sources

MR imaging of entrapment neuropathies of the shoulder [PDF]

, 2010
LEARNING OBJECTIVES: To describe the MRI features of most common entrapment neuropathies of the shoulder: - Parsonage-Turner syndrome - quadrilateral space syndrome (axillary neuropathy) - suprascapular nerve syndrome BACKGROUND: Entrapment ...
Faletti, C., IOVANE, Angelo, PALERMO PATERA, Giovanni, PERITORE, Giuseppe, SUTERA, Raffaello   +4 more
core   +1 more source

Concurrent Van der Woude syndrome and Turner syndrome: A case report

SAGE Open Medical Case Reports, 2017
Most cases of Van der Woude syndrome are caused by a mutation to interferon regulatory factor 6 on chromosome 1. Turner syndrome is caused by complete or partial absence of the second sex chromosome in girls.
Evan Los, Hayley Baines, Ines Guttmann-Bauman   +2 more
doaj   +1 more source

Complex X chromosome rearrangement associated with multiorgan autoimmunity [PDF]

, 2015
BACKGROUND: Turner syndrome, a congenital condition that affects 1/2,500 births, results from absence or structural alteration of the second sex chromosome.
A Franzese, A Grossi, Anikó Somogyi, Antónia Völgyi, Artúr Beke, C Hernando, CC Wong, CH Gravholt, CM Powell, D Chang, D Wechsler, Dezső David, EJ Verver, Eszter Kiss, F Rousseau, F Schmidt, FS Grass, G Horváth, G Koumbaris, GS Letteire, György Fekete, H Pamjav, Henriett Pikó, Horolma Pamjav, I Bianchi, Irén Haltrich, J Auger, KT Jørgensen, ME Ochalski, MJ Schoemaker, MK Kim, N Morimoto, OA Shchelochkov, P Invernizzi, RT Hamza, T Eggermann, T Terano, Veronika Karcagi, VK Bakalov, VK Bakalov, W Gawron, Zoltán Garamvölgyi   +41 more
core   +2 more sources

Turner syndrome growth charts: A western India experience

Indian Journal of Endocrinology and Metabolism, 2020
Background and Objectives: Disease specific growth charts are useful to monitor growth and disease progress in specific disorders such as Turner syndrome.
Vaman V Khadilkar, Madhura B Karguppikar, Veena H Ekbote, Anuradha V Khadilkar   +3 more
doaj   +1 more source

A Case of Focal Segmental Glomerulosclerosis in Turner Syndrome [PDF]

Kosin Medical Journal, 2015
Turner syndrome is usually accompanied with various anomalies. Congenital urological and renal abnormalities are often associated with this syndrome. The occurrence of glomerulonephritis is uncommon.
A Rum Han, Young Ki Lee, Hyun Yon Jung, Jae Hyun Park, Jung-Woo Noh, Eun Suk Nam   +5 more
doaj   +1 more source

Clinical practice guidelines for the care of girls and women with Turner syndrome

European Journal of Endocrinology
Turner syndrome (TS) affects 50 per 100 000 females. TS affects multiple organs through all stages of life, necessitating multidisciplinary care. This guideline extends previous ones and includes important new advances, within diagnostics and genetics ...
C. Gravholt, N. H. Andersen, Sophie Christin-Maitre, Shanlee M. Davis, A. Duijnhouwer, A. Gawlik, A. Maciel-Guerra, Iris Gutmark-Little, Kathrin Fleischer, David S Hong, Karen O Klein, S. Prakash, Roopa Kanakatti Shankar, David E. Sandberg, Theo C J Sas, A. Skakkebæk, K. Stochholm, J. A. van der Velden, P. Backeljauw   +18 more
semanticscholar   +1 more source