Results 231 to 240 of about 8,409,709 (279)

X-linked spasticity-intellectual disability-epilepsy syndrome [PDF]

, 2020
openaire   +1 more source

A HS6ST2 gene variant associated with X-linked intellectual disability and severe myopia in two male twins. [PDF]

Clin Genet, 2019
Paganini L, Hadi LA, Chetta M, Rovina D, Fontana L, Colapietro P, Bonaparte E, Pezzani L, Marchisio P, Tabano SM, Costanza J, Sirchia SM, Riboni L, Milani D, Miozzo M.   +14 more
europepmc   +1 more source

X-linked intellectual disability-retinitis pigmentosa syndrome [PDF]

, 2020
openaire   +1 more source

Fetal Intracranial Hemorrhage: What to Tell Expecting Parents?

Prenatal Diagnosis, EarlyView.
ABSTRACT To review the classification, epidemiology, etiology, prenatal diagnostic approach, and neurodevelopmental outcomes of fetal intracranial hemorrhage (ICH), and to provide clinicians with a practical, fetal‐specific framework for investigating and counseling families facing this diagnosis.
Shiri Shinar, Yada Kunpalin, Elka Miller
wiley   +1 more source

Severe X-linked intellectual disability, Gustavson type [PDF]

, 2020
openaire   +1 more source

Pharmacokinetic and Pharmacodynamic Interactions Between Anti‐Asthma Drugs and Medicinal Plants: A Comprehensive Review

Phytotherapy Research, EarlyView.
ABSTRACT Asthma affects 260–300 million people worldwide. About 20%–35% of patients use medicinal plants with their asthma medication, often without telling their clinicians. Disclosure rates are low; up to 42% of asthma outpatients use herbal products, with no records in their charts.
Emine Kocyigit, Aylin Bülbül, Betul Kocaadam‐Bozkurt, Osman Bozkurt, Duygu Ağagündüz, Raffaele Capasso   +5 more
wiley   +1 more source

A novel splice site mutation in the UBE2A gene leads to aberrant mRNA splicing in a Chinese patient with X-linked intellectual disability type Nascimento. [PDF]

Mol Genet Genomic Med, 2019
Ma D, Tan J, Zhou J, Zhang J, Cheng J, Luo C, Liu G, Wang Y, Xu Z.   +8 more
europepmc   +1 more source

Clinical predictors of response to methotrexate in patients with rheumatoid arthritis: A systematic review

Rheumatology &Autoimmunity, EarlyView.
This review integrates clinical, immunological, genetic, and multi‐omic evidence, highlighting dynamic inflammatory and adenosine‐pathway biomarkers and reinforcing treat‐to‐target principles as the most actionable framework for personalized methotrexate therapy.
Joana Ramos Rodrigues, Helena Margarida de Miranda Lemos Romão Donato, Soraia Raquel Loureiro Azevedo, Luís Miguel da Silva Pires, Luís Pedro Bolotinha de Sousa Inês, Manuel Augusto Nunes Vicente Passos Morgado, Ana Filipa de Sousa Pestana Mourão   +6 more
wiley   +1 more source

A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature. [PDF]

Cold Spring Harb Mol Case Stud, 2019
Iida A, Takano K, Takeshita E, Abe-Hatano C, Hirabayashi S, Inaba Y, Kosugi S, Kamatani Y, Momozawa Y, Kubo M, Nakagawa E, Inoue K, Goto YI.   +12 more
europepmc   +1 more source

Carbon dots as a smart nanoplatform for the blood‐brain barrier penetration and ischemic stroke therapy

Responsive Materials, EarlyView.
This review presents the structure and transport routes of the blood‐brain barrier, summarizes the ischemic stroke pathophysiological cascade, and discusses the BBB‐crossing mechanisms and multitarget therapeutic effects of carbon dots, demonstrating their promising theranostic potential for ischemic stroke.
Yanhan Huang, Xuan Hou, Haiping Zhao, Qi Kong, Xiayan Wang, Xiaokun Geng, Zaicheng Sun   +6 more
wiley   +1 more source