Results 61 to 70 of about 56,903 (162)

Analisis Mutasi Gen SRY dan AZF serta Fungsi Gonad pada Penderita 46,XY Disorder of Sex Development (DSD)

, 2017
Disorder of sex development (DSD) includes congenital conditions in which development of chromosomal,gonadal or anatomy of urogenital is atypical. SRY and AZF genes have relationships with sex development andfertility in 46,XY DSD patients.
Sultana MH Faradz, Ahmad Zulfa Juniarto, Tri Indah Winarni, Meira Erawati, Ardy Santosa   +4 more
core   +1 more source

Virilization at puberty in adolescent girls may reveal a 46,XY disorder of sexual development

Endocrine Connections, 2023
Although hyperandrogenism is a frequent cause of consultation in adolescent girls, more severe forms with virilization must lead to suspicion of an adrenal or ovarian tumor. However, they may also reveal a 46,XY disorder of sexual development (DSD). Here,
A Bergougnoux, L Gaspari, M Soleirol, N Servant, S Soskin, S Rossignol, K Wagner-Mahler, J Bertherat, C Sultan, N Kalfa, F Paris   +10 more
doaj   +1 more source

Essential embryology for the Canadian pathologists’ assistant

Anatomical Sciences Education, Volume 19, Issue 7, Page 1134-1156, July 2026.
Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci, William Tsui, Fang‐I Lu, Avrum I. Gotlieb, Danielle C. Bentley   +4 more
wiley   +1 more source

Understanding the genetic aetiology in patients with XY DSD

, 2013
Background Disorders of sex development (DSD) consist of a wide range of disorders and are commoner in those with an XY karyotype. In over half of these cases who have a 46,XY karyotype and who are raised as boys, the underlying aetiology remains unclear.
Ahmed, S.F., Bashamboo, A., McElreavey, K., Lucas-Herald, A.   +3 more
core   +1 more source

Novel and highly aberrant common (in bold font) CNVRs in XY DSD horses.

, 2014
Novel and highly aberrant common (in bold font) CNVRs in XY DSD horses.
Daniel G. Kenney (650372), Erica Fang (650369), Teri L. Lear (650373), Terje Raudsepp (108514), Rytis Juras (650370), Zhipeng Qu (110511), E. Gus Cothran (102148), Bhanu P. Chowdhary (108534), Sue McDonell (650371), David L. Adelson (110514), Sharmila Ghosh (650368), Pranab J. Das (108518)   +11 more
core   +1 more source

The Pathogenicity Analysis of a Hypogonadotropic Hypogonadism Patient With the Novel Variant in the Deep Intronic Region of the PROK2 Gene

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
We identified a deep intronic variant of PROK2 in one female patient with hypogonadotropic hypogonadism (HH) through whole‐genome sequencing (WGS). In vitro splicing assays and protein structure predictions indicated that this variant was likely pathogenic and might lead to this disease.
Jiali Chen, Yujin Ma, Liping Li, Huifang Peng, Hongwei Jiang   +4 more
wiley   +1 more source

General Characteristics of 46,XY DSD individuals according to sex assignment

, 2018
General Characteristics of 46,XY DSD individuals according to sex ...
Berenice B. Mendonca (307181), Rafael Batista (5856014)   +1 more
core   +1 more source

Comprehensively identifying and validating the implications of NR5A1 and DHX37 variants for 46,XY disorders of sex development diagnosis

BMC Medical Genomics
Background The clinical phenotype and pathogenic mechanism of 46,XY disorders of sex development (DSD) are complex, and several pathogenic variants are identified by next-generation sequencing.
Cui Li, Binyu Yang, Xu Li, Shuai Zhen, Xiaogang Liu, Pingping Li, Wei Chen, Xiaoyan Wang, Mei Xue   +8 more
doaj   +1 more source

Variability in Sex Assignment at Birth and Etiological Diagnosis of Differences of Sex Development: A Ten-Year Institutional Experience from Assam

Indian Journal of Endocrinology and Metabolism
Introduction: Differences of sex development (DSD) also known as disorders of sex development encompass a wide spectrum of conditions with varying clinical presentations across different age groups. This study aims to analyse various aetiologies of DSD
Praveen Nagarajaiah, Ashok K Bhuyan, Abhamoni Baro, Uma K Saikia   +3 more
doaj   +1 more source

List of copy number variations of unclear clinical significance (UCS) in 46,XY DSD patients.

, 2013
List of copy number variations of unclear clinical significance (UCS) in 46,XY DSD patients.
Sung-Hae L. Kang (360379), Mounia Tannour-Louet (360374), Shuo Han (360375), Svetlana Yatsenko (360378), Lindsay Meyers (200200), Chad A. Shaw (94130), Jean-Francois Louet (360377), Sean T. Corbett (360376), Dolores J. Lamb (360380), Sau Wai Cheung (163977)   +9 more
core   +1 more source