Results 21 to 30 of about 51,939 (308)

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

Case Report: Solid variant of papillary thyroid carcinoma in a young adult with Turner syndrome with chronic thyroiditis

Frontiers in Oncology, 2023
Turner syndrome is associated with an increased risk of developing several neoplasms. In particular, a clinical feature of Turner syndrome with chronic thyroiditis implies a relationship with thyroid malignancies.
Daichi Murakami, Daichi Murakami, Masayoshi Hijiya, Masayoshi Hijiya, Takuro Iyo, Takuro Iyo, Sachiko Hayata, Takashi Ozaki, Keisuke Enomoto, Masamitsu Kono, Shunji Tamagawa, Muneki Hotomi   +11 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

Parsonage–Turner syndrome

Revista Brasileira de Ortopedia (English Edition), 2015
To describe the clinical, electrophysiological and imaging findings from Parsonage-Turner syndrome and evaluate the results from conservative treatment.Eight cases were studied between February 2010 and February 2012, with a minimum follow-up of one year (mean of 14 months).
Santos, Ricardo Barreto Monteiro dos, Santos, Saulo Monteiro dos, Leal, Flávio José Câmara Carneiro, Lins, Otávio Gomes, Magalhães, Carmem, Fittipaldi, Ricardo Bruno Mertens   +5 more
openaire   +5 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

Does wastewater discharge have relations with increase of Turner syndrome and Down syndrome? [PDF]

Environmental Health and Toxicology, 2017
The purpose of this study is to examine whether water and air pollutants have a relationship with an increase in the genetic disorders Turner syndrome and Down syndrome, which are caused by congenital chromosomal abnormalities, and to generate a ...
Intae Choi
doaj   +1 more source

Craniofacial growth and development of Turner syndrome children

Padjadjaran Journal of Dentistry, 2009
Turner syndrome is a genetic disorder which characterized by specific physical appearance and the lost of one of sex chromosome in females. The most frequent chromosome constitution in Turner syndrome is 45X.
Inne Suherna Sasmita, Arlette Suzy Puspa Pertiwi, M Harun Achmad   +2 more
doaj   +1 more source

A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome: a case report

Molecular Cytogenetics, 2009
Background Small supernumerary marker chromosomes (sSMC) can be present in numerically abnormal karyotypes like in a 'Turner-syndrome karyotype' mos 45,X/46,X,+mar.
Vermeesch Joris, Andrieux Joris, Desai Manisha, Sheth Jayesh, Weise Anja, Kosyakova Nadezda, Ewers Elisabeth, Sheth Frenny, Hamid Ahmed B, Ziegler Monika, Liehr Thomas   +10 more
doaj   +1 more source

A Review of Recent Developments in Turner Syndrome Research

Journal of Cardiovascular Development and Disease, 2021
Turner syndrome is a rare disorder resulting from complete or partial loss of the second sex chromosome. Common manifestations include delayed growth, premature ovarian failure, congenital heart defects, endocrine disorders, lymphedema, and webbed neck ...
Allen C. Huang, Susan B. Olson, Cheryl L. Maslen   +2 more
doaj   +1 more source

Methodological advances in patient-centered rare disease research: the UTHealth Houston Turner Syndrome Society of the United States research registry

Orphanet Journal of Rare Diseases
Background Many different clinical specialists provide care to patients with Turner syndrome (TS), who have highly variable clinical manifestations. Therefore, a national TS registry is essential to inform a cohesive approach to healthcare and research ...
Sara Mansoorshahi, Cindy Scurlock, Scientific Advisory Board of the Turner Syndrome Society of the United States Research Registry, Siddharth K Prakash   +3 more
doaj   +1 more source