Results 191 to 200 of about 1,112,463 (306)

Novel NR5A1 variants associated with hypospadias and disorders of sex development: A series case report of 4 patients. [PDF]

Medicine (Baltimore)
Peng X, Zu J, Wang S, Hu Q.
europepmc   +1 more source

Bilateral adrenal giant medullary lipoma combined with disorders of sex development: a rare case report and literature review. [PDF]

Front Oncol, 2023
Zhanghuang C, Long N, Yang Z, Xie Y.
europepmc   +1 more source

Meningovascular Inflammation in Cerebral Amyloid Angiopathy‐Related Cortical Superficial Siderosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The role of inflammation in cortical superficial siderosis (cSS), a marker of cerebral amyloid angiopathy (CAA) linked to high hemorrhage risk, is unclear. We examined 15 patients with cSS using 3 T post‐contrast vessel wall MRI (VWI) and CSF analysis.
Philipp Arndt, Eya Khadhraoui, Sebastian J. Müller, Katja Neumann, Hendrik Mattern, Sven G. Meuth, Valentina Perosa, Andreas Charidimou, Stefanie Schreiber   +8 more
wiley   +1 more source

Long‐Term Evaluation of Patients Undergoing Genitoplasty due to Disorders of Sex Development: Results from a 14‐Year Follow‐Up [PDF]

, 2013
Heng Zhang, Jinhong Pan, Huixiang Ji, Yongquan Wang, Wenhao Shen, Limei Liu, Gensheng Lu, Zhansong Zhou   +7 more
openalex   +1 more source

Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.
Marcus Grobe‐Einsler, Vivian Maas, Arian Taheri Amin, Jennifer Faber, Tamara Schaprian, Katharina Hill, Matthis Synofzik, Lisa H. Graf, Heike Jacobi, Manuela Lima, Ana F. Ferreira, Bart P. van de Warrenburg, Ilse H. J. Willemse, Dagmar Timmann, Andreas Thieme, Paola Giunti, Hector Garcia‐Moreno, Magda M. Santana, Jeannette Hübener‐Schmid, Elin H. Davies, Thomas Klockgether   +20 more
wiley   +1 more source

An evaluation of cases of disorders of sex development related to SRD5A2. [PDF]

Endocrine
Celiloglu C, Turan I, Kotan LD, Cimen AM, Dilek SO, Yuksel B.   +5 more
europepmc   +1 more source

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development [PDF]

, 2016
Dorien Baetens, Hans Stoop, Frank Peelman, Anne‐Laure Todeschini, Toon Rosseel, Frauke Coppieters, Reiner A. Veitia, Leendert H. J. Looijenga, Elfride De Baere, Martine Cools   +9 more
openalex   +1 more source

Clustering Algorithm Reveals Dopamine‐Motor Mismatch in Cognitively Preserved Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore the relationship between dopaminergic denervation and motor impairment in two de novo Parkinson's disease (PD) cohorts. Methods n = 249 PD patients from Parkinson's Progression Markers Initiative (PPMI) and n = 84 from an external clinical cohort.
Rachele Malito, Chiara Meneghini, Alice Galli, Luca Gallo, Pierfrancesco Mitrotti, Paola Dimartino, Marianna Inglese, Cinzia Zatti, Alessandro Lupini, Andrea Pilotto, Alessandro Padovani, Micol Avenali, Enza Maria Valente, Cristina Tassorelli, Silvia P. Caminiti   +14 more
wiley   +1 more source

Editorial: Disorders of sex development in children: advancing multidisciplinary approaches for complex diagnosis and management. [PDF]

Front Pediatr
Hidouri S, Kalaitzoglou E, Romero CJ.
europepmc   +1 more source

A Rare Case of Precocious Puberty in a Child with a Novel GATA-4 Gene Mutation: Implications for Disorders of Sex Development (DSD) and Review of the Literature. [PDF]

Genes (Basel), 2023
Aversa T, Luppino G, Corica D, Pepe G, Valenzise M, Coco R, Li Pomi A, Wasniewska M.   +7 more
europepmc   +1 more source