Results 101 to 110 of about 89,384 (157)

Preimplantation Genetic Diagnosis of Androgen Resistance Syndrome Caused by Mutation on the AR Gene in Vietnam

The Application of Clinical Genetics
Trieu Tien Sang,1 Khoa Tran Van,1 Nguyen Thanh Tung,2 Phong Nguyen Van,1 Phuong Tran Hoang3 1Department of Biology and Medical Genetics, Vietnam Military Medical University, Hanoi, 10000, Vietnam; 2Military Institute of Clinical Embryology and ...
Tung NT, Sang TT, Khoa TV, Phong NV, Phuong TH   +4 more
doaj  

Distinct etiologies of 46,XY differences of sex development within a single family: A case series of 17β-HSD3 deficiency and complete androgen insensitivity syndrome

Suchana Sarker, Md. Anowar Hossain, Ershad Mondal, Choman Abdullah Mohana, Sadia Afrin, Md.Abdullah Al Salehin, ABM Kamrul Hasan   +6 more
openalex   +1 more source

A novel androgen receptor gene splice site mutation induces aberrant mRNA splicing and internal in-frame deletion in androgen insensitivity syndrome

Baoqiong Liao, Mei Shuai, Lin Xiao, Gungao Huang, Ying He, Yalong Wang, Hao Wang, Shuwen He   +7 more
  +6 more sources

Androgen insensitivity syndrome

Yong Zhang, Houmei Wang, Ziwen Xiao
openalex   +1 more source

Complete androgen insensitivity syndrome in two siblings with a pathogenic androgen receptor gene variant: a case series

Quynh Thi Vu Huynh, Ngan Nguyen, Ho Tran Ban   +2 more
openalex   +1 more source

Primary Amenorrhea in Patients with Partial and Complete Androgen Insensitivity Syndrome: A Case Report [PDF]

Prita Aji Malinda, Sri Ratna Dwiningsih, Arif Tunjungseto   +2 more
openalex   +1 more source

Complete Androgen Insensitivity Syndrome Presenting as Primary Amenorrhea in an Adolescent Female: A Case Report

Dr Shweta Aralalli , Dr Soumya R Patil , Dr Mary Asha Dasari , Dr Sanjana Patil , Dr Meenakshi Devarmani
openalex   +2 more sources

A Novel AR Splice-Site Variant Causing Complete Androgen Insensitivity Syndrome: Transcript Confirmation and Lessons for Splice Prediction [PDF]

Raquel Martinez Ramos, Laura da Silva Salvanini, Ana Caroline F Afonso, Reginaldo José Petroli, Sorahia Domenice, Mirian Yumie Nishi, Berenice Bilharinho Mendonca, Rafael Loch Batista   +7 more
openalex   +1 more source

Association of the Hind III polymorphism with the androgen receptor gene in partial androgen insensitivity syndrome.

, 1991
Partial androgen insensitivity syndrome (PAIS) is an X-linked disorder resulting from defects in the intracellular androgen receptor (AR). The cloning of the AR cDNA has provided the molecular tools to identify gene abnormalities.
Van Regemorter, Nicole, Heinrichs, Claudine, Ruiz, Rubén, Terraza, A, Belon, C, Lobaccaro, J M, Sultan, C   +6 more
core  

From sarcopenia to a genetic diagnosis: Exercise- induced weakness and androgen insensitivity unmasking Kenedy’s disease

Kye Chiun Lau, Samihah Abdul Karim, Siew Li Goh, Mohamad Azwan Aziz   +3 more
openalex   +1 more source