Results 181 to 190 of about 1,112,463 (306)

Patient and Parent Perceptions of Disorders of Sex Development Terminology: A Pilot Study. [PDF]

Arch Sex Behav
Sharp S, Williams L, Yashar B, Mohnach L, Fitzgerald JT, Ernst MM, Schafer-Kalkhoff T, Gomez-Lobo V, Sandberg DE.   +8 more
europepmc   +1 more source

Physical assessment and reference growth curves for children with 46, XY disorders of sex development [PDF]

, 2017
Di Wu, Hui Chen, Chunxiu Gong
openalex   +1 more source

Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda, Hyo‐Min Kim, Nicole Battaglia, Joshua Rong, Amy Tam, Enrique Gonzalez Saez‐Diez, Cornelius F. Boerkoel, Afshin Saffari, Vicente Quiroz, Luca Schierbaum, Zainab Zaman, Katerina Bernardi, Darius Ebrahimi‐Fakhari   +12 more
wiley   +1 more source

Gene therapy for disorders of sex development: current applications and future challenges. [PDF]

Front Genet
Peng W, Zhao Q, Chen J, Peng H, Jiang H.
europepmc   +1 more source

Clinical Spectrum and Outcomes of SOX1 Antibody‐Associated Paraneoplastic Neurological Syndromes: A Chinese Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background SOX1 antibody‐positive paraneoplastic neurological syndromes (PNS) exhibit significant population‐specific clinical heterogeneity. While Western cohorts predominantly manifest Lambert‐Eaton myasthenic syndrome (65%–80%), comprehensive clinical characterization and treatment response data in Asian populations remain critically ...
Jin‐Long Ye, Zu‐Ying Kuang, Bo Li, Meng‐Qiu Pan, Li‐Hua Zhou, Yang‐Yang Dai, Si‐Fen Xie, Xian‐Guang Lin, Ye‐Peng Hu, Li‐Hong Jiang, Zhan‐Hang Wang, Wei‐Jing Zhang   +11 more
wiley   +1 more source

Are We Prepared to Abandon the Idea of Sex Binarism? A Biomedical Perspective

Biomedicine Hub, 2022
Rodolfo A. Rey
doaj   +1 more source

Unraveling the genetic and pathophysiological mechanisms underlying disorders of sex development. [PDF]

Intractable Rare Dis Res
Wang Y, Zhao H, Yan H, Wang Y.
europepmc   +1 more source

Clinical characteristics and genetic expansion of 46,XY disorders of sex development children in a Chinese prospective study. [PDF]

Endocr Connect, 2023
Tang Y, Chen Y, Wang J, Zhang Q, Wang Y, Xu Y, Li X, Wang J, Wang X.   +8 more
europepmc   +1 more source

The Role of Prenatal Microglial Activation and Its Sex Differences in the Development of Neuropsychiatric Disorders and Neurodegenerative Diseases [PDF]

Alexander Sergeevich Lyamtsev, A. V. Sentyabreva, А. М. Косырева   +2 more
openalex   +1 more source

Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with adrenoleukodystrophy, the majority of women develop myeloneuropathy symptoms in adulthood.
Chenwei Yan, Elizabeth I. Pierpont, Amena S. Fine, Reena V. Kartha   +3 more
wiley   +1 more source