Results 181 to 190 of about 359,449 (281)

ADHD IN ADULTS: COMORBODITY WITH BIPOLAR DISORDER AND SUBSTANCE ABUSE

, 2011
ADHD is characterized by a continuous history of hyperactivity, forgetfulness, distractibility, impulsiveness and/or inattention, starting from the early childhood and at a more severe extent than whatever may be usual in peers.
CERAUDO, GIUSEPPE
core  

Unveiling the Genetic Complexity: A Case of 46 XY Disorder of Sex Development Linked to Chromosome 9 Inversion and Its Multidisciplinary Management. [PDF]

Cureus
Jain R P, Aravind S, Palaniyandi V, Sekar H, Krishnamoorthy S.   +4 more
europepmc   +1 more source

Detection of 46, XY Disorder of Sex Development (DSD) Based on Plasma Cell-Free DNA and Targeted Next-Generation Sequencing. [PDF]

Genes (Basel), 2021
De Falco L, Piscopo C, D'Angelo R, Evangelista E, Suero T, Sirica R, Ruggiero R, Savarese G, Di Carlo A, Furino G, Scarpato C, Fico A.   +11 more
europepmc   +1 more source

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

Gender Dysphoria in a Patient With Ovotesticular Disorder of Sex Development. [PDF]

JCEM Case Rep
Moreno T, Ribeiro S, Rodrigues P.
europepmc   +1 more source

A rare case of 46XX ovotesticular disorder of sex development. [PDF]

Indian J Med Res, 2020
Reddy SSL, Subrahmanyam KAV.
europepmc   +1 more source

A Novel Intronic Splice-Site Mutation of the CYP11A1 Gene Linked to Adrenal Insufficiency with 46,XY Disorder of Sex Development. [PDF]

Int J Environ Res Public Health, 2021
Matusik P, Gach A, Zajdel-Cwynar O, Pinkier I, Kudela G, Gawlik A.   +5 more
europepmc   +1 more source

A Two‐Stage Questionnaire and Actigraphy Screening for iRBD in a Multicenter Retrospective Cohort

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Isolated rapid‐eye‐movement sleep behavior disorder is a prodromal marker of synucleinopathies. However, most cases remain undiagnosed due to the insufficient predictive value of questionnaires and limited access to confirmatory video‐polysomnography. We assessed a two‐stage screening strategy combining a brief questionnaire on rapid‐
Caleb A. Massimi, Giorgio Ricciardiello Mejia, Andre Metzger, Kang Hyun Ryu, Salonee Marwaha, Eva Grzegorczyk, Li Zhou, Eliana Jacobs, Boris Gilyadov, Claudia Kunney, Liqhwa Ncube, Ankit Parekh, Emmanuel Mignot, Fanny M. Elahi, Joseph Winer, Kathleen Poston, Andreas Brink‐Kjaer, Emmanuel H. During   +17 more
wiley   +1 more source

White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian, Tianjia Zhu, Hao Huang, Shavonne L. Massey, Mark P. Fitzgerald, Darshana Parikh, Arastoo Vossough, Ingo Helbig, Nicholas S. Abend   +8 more
wiley   +1 more source

A Case Report of a Rare 46,XX/47,XXY Mosaicism With Ovotesticular Disorder of Sex Development and a Literature Review. [PDF]

Cureus
Hssaini M, Bourkadi G, Ahakoud M, Bouguenouch L, Abourazzak S, Bekkari H, Ameli A.   +6 more
europepmc   +1 more source