Results 91 to 100 of about 2,574,928 (152)

The Patient, the Provider, and the TikTok Creator: Qualitative Analysis of the Content and Quality of Videos on Prenatal Genetic Screening

Journal of Midwifery &Women's Health, Volume 71, Issue 4, Page 618-627, July/August 2026.
Introduction Although providers may view the use of the noninvasive prenatal testing (NIPT) screen as an opportunity for patients to learn more about potential chromosomal variants of a fetus, research suggests that patients may view the genetic screening test primarily as an opportunity to learn about their fetus's sex chromosomes and may not ...
Erin P. Johnson, Naomi O. Riches, Stephanie Arceneaux, Emma Murdock, Caitlin Quade, Susanna R. Cohen, Robin E. Jensen   +6 more
wiley   +1 more source

From Earth to orbit: How to preserve muscle health in space and bed rest

Experimental Physiology, Volume 111, Issue 9, Page 3906-3907, 1 September 2026.
Antonios Matsakas, Colleen Deane
wiley   +1 more source

A novel mutation (c.T3816 > C) in the androgen receptor gene in a 46,XY female patient with androgen insensitivity syndrome [PDF]

, 2013
Wstęp: Mutacje w genie receptora androgenowego (AR, Androgen Receptor) są najczęstszą przyczyną zaburzeń różnicowania płci (DSD,Disorders of Sex Development) powodującą zespół niewrażliwości na androgeny (AIS, Androgen Insensitivity Syndrome).
Jędrzejczyk, Sławomir, Borkowska, Edyta, Słowikowska-Hilczer, Jolanta, Pietrusiński, Michał, Kałużewski, Bogdan, Helszer, Zofia, Moczulska, Hanna, Dmochowska, Anita   +7 more
core   +1 more source

Expanding the Molecular Landscape of Androgen Insensitivity Syndrome Through Next-Generation Sequencing [PDF]

Tadeusz Kałużewski,1,2 Iwona Pinkier,1 Urszula Wysocka,1 Jordan Sałamunia,2 Łukasz Kępczyński,1,2 Małgorzata Piotrowicz,1 Bogdan Kałużewski,2 Agnieszka Gach1 1Department of Genetics, Polish Mother’
Pinkier I, Kałużewski T, Sałamunia J, Kępczyński Ł, Wysocka U, Kałużewski B, Piotrowicz M, Gach A   +7 more
core  

Bilateral Sertoli Cell Tumors in a Patient with Androgen Insensitivity Syndrome

Case Reports in Obstetrics and Gynecology, 2017
Androgen insensitivity syndrome is the most common cause of male pseudohermaphroditism and the third most common cause of primary amenorrhea. This genetic alteration is a consequence of inherited defects on the X chromosome causing total or partial ...
Roberta Fonseca de Souza, Janaina Pereira da Silva, Bruno Vieira Balla, Rodrigo Neves Ferreira, Antônio Chambô Filho   +4 more
doaj   +1 more source

Testicular Feminization or Androgen Insensitivity Syndrome (AIS) in Iran: a Retrospective Analysis of 30-Year Data

Iranian Journal of Public Health, 2016
Background: Androgen insensitivity syndrome (AIS) or testicular feminization is a partial or complete inability of cell response to androgen. The cause is enzymatic defect in synthesis of testosterone, resulting sexually immature phenotypically female ...
Dariush. D FARHUD, Marjan ZARIF YEGANEH, Hosein SADIGHI, Shahram ZANDVAKILI   +3 more
doaj   +2 more sources

17-β-hydroxysteroid dehydrogenase type 3 deficiency: Identifying a rare cause of 46, XY female phenotype in adulthood

Journal of Clinical and Translational Endocrinology Case Reports, 2018
Objective: To review a case of differences of sexual differentiation (DSD) in an adult female patient and highlight the potential challenges and complexity in diagnosing and managing these conditions.
Catherine A. Sullivan, Jodi D. Hoffman, Joshua D. Safer   +2 more
doaj   +1 more source

Clinical outcomes and genotype-phenotype correlations in patients with complete and partial androgen insensitivity syndromes [PDF]

, 2023
Nae-yun Lee, Ja Hye Kim, Ji‐Hee Yoon, Soojin Hwang, Gu-Hwan Kim, Han‐Wook Yoo, Jin‐Ho Choi   +6 more
openalex   +1 more source

Insensibilidade androgênica completa e hérnia inguinal: relato de 3 casos. [PDF]

, 1999
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Departamento de Pediatria, Curso de Medicina, Florianópolis ...
Queirós, Raquel Campos Galvão de
core  

Somatic mosaicism of androgen receptor gene in an androgen insensitivity syndrome patient conceived through assisted reproduction technique

Molecular Genetics & Genomic Medicine, 2019
Background Mutations of human androgen receptor (AR) gene are responsible for androgen insensitivity syndrome (AIS). Variable phenotypes and androgen receptor binding activity have permitted the classification of AIS into complete (CAIS), partial (PAIS),
Hao Wang, Hui Zhu, Nan Wang, Tong Cheng, Bing Han, Shuangxia Zhao, Huaidong Song, Kaixiang Cheng, Yang Liu, Jie Qiao   +9 more
doaj   +1 more source