Results 81 to 90 of about 2,838 (167)

What Term to Choose: Ambiguous Genitalia or Disorders of Sex Development (DSD)? [PDF]

Front Pediatr, 2019
Acimi S.
europepmc   +1 more source

Identification and functional analysis of a rare variant of gene DHX37 in a patient with 46,XY disorders of sex development

Molecular Genetics & Genomic Medicine
Background 46,XY sex reversal 11 (SRXY11) [OMIM#273250] is characterized by genital ambiguity that may range from mild male genital defects to gonadal sex reversal in severe cases.
Wei Jiang, Jing Yu, Yu Mao, Yunman Tang, Li Cao, Qin Du, Jianan Li, Jiyun Yang   +7 more
doaj   +1 more source

Sexual Development and Disorders of sex development (DSD)

Journal of Nihon University Medical Association, 2013
Noriko Yamamoto, Fumihisa Chishima, Tatsuo Yamamoto   +2 more
openaire   +2 more sources

Combining ATAC-seq and RNA-seq reveals key genes for gonadal abnormalities in one-month-old XX-DSD pigs

BMC Genomics
Background Disorders of Sex Development (DSD) are caused by congenital abnormalities in the chromosomes, and subsequent development of gonads or sexual anatomy.
Congying Yu, Bingzhou Zhong, Yuqiao Zhang, Haiquan Zhao, Jinhua Wu, Haiyi Yu, Hui Yu, Hua Li   +7 more
doaj   +1 more source

Is It Beneficial to Patients to Include Congenital Adrenal Hyperplasia (CAH) Among the Disorders of Sex Development (DSD)? [PDF]

Front Pediatr, 2018
González R, Ludwikowski BM.
europepmc   +1 more source

Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD). [PDF]

Endocr Connect, 2019
Hughes LA, McKay-Bounford K, Webb EA, Dasani P, Clokie S, Chandran H, McCarthy L, Mohamed Z, Kirk JMW, Krone NP, Allen S, Cole TRP.   +11 more
europepmc   +1 more source

[Clinical, hormonal and molecular genetic characteristics of 18 cases of disorders of sex development (DSD) 46,XY associated with variants in the <i>SRD5A2</i> gene]. [PDF]

Probl Endokrinol (Mosk)
Kalinchenko NY, Makretskaya NA, Kolodkina AA, Kareva MA, Tiulpakov AN.   +4 more
europepmc   +1 more source

Health status in 1040 adults with disorders of sex development (DSD): a European multicenter study. [PDF]

Endocr Connect, 2018
Falhammar H, Claahsen-van der Grinten H, Reisch N, Slowikowska-Hilczer J, Nordenström A, Roehle R, Bouvattier C, Kreukels BPC, Köhler B, dsd-LIFE group.   +9 more
europepmc   +1 more source

The Approach to Patients with Disorders of Sex Development (DSD) in the Era of Precision Medicine: The Careful Use of Terminology. [PDF]

touchREV Endocrinol
Rey RA.
europepmc   +1 more source

GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’ [PDF]

Eur J Endocrinol, 2018
Audi L, Ahmed SF, Krone N, Cools M, McElreavey K, Holterhus PM, Greenfield A, Bashamboo A, Hiort O, Wudy SA, McGowan R, The EU COST Action.   +11 more
europepmc   +1 more source