Results 171 to 180 of about 346,998 (261)
Abstract The current study seeks to explore the reciprocal associations between mentor–mentee relationship strength and relationships with parents and peers across 2 years of mentoring. It is a secondary analysis of data collected by a national mentoring organization from youth (N = 1368; M age = 11.5 years; 59% female; White [n = 629], 30% Black [n ...
Westley L. Fallavollita +1 more
wiley +1 more source
Salidroside mitigates cognitive deficits in AlCl<sub>3</sub> exposed aging mouse by modulating APP processing and mitochondrial dysfunction. [PDF]
Dong Y, Jin H, Wang S, Xu Y.
europepmc +1 more source
ABSTRACT Management of cerebral vasculopathy in sickle cell anemia (SCA) includes standard‐care, that is, chronic transfusion (CT) or hydroxyurea, and hematopoietic cell transplantation (HCT). DREPAGREFFE‐1 (December 2010/June 2013), a French multicenter trial, was the first prospective trial comparing standard‐care to match sibling donor (MSD)‐HCT in ...
Francoise Bernaudin +40 more
wiley +1 more source
ABSTRACT People with Phelan–McDermid syndrome (PMS) have reduced speech and language abilities, yet little research has profiled the communication abilities in this population. The purpose of this study was threefold: identifying the language and communication profiles of school‐aged children with PMS, identifying genetic contributions to language and ...
Sarah Quadri‐Valverde +12 more
wiley +1 more source
The 9th International RASopathies Symposium
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel +41 more
wiley +1 more source
L-2-Hydroxyglutaric Aciduria Due to the Homozygous Variant c.905C>T in L2HGDH Without Cognitive Deficits or Gait Disturbance: A Case Report. [PDF]
Finsterer J, Barwari A.
europepmc +1 more source
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi +6 more
wiley +1 more source
ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George +11 more
wiley +1 more source

