Results 251 to 260 of about 2,214,382 (367)

Variation in Neurodegeneration‐Linked Brain Regions in Young Adult APOE E4 Carriers With Spina Bifida

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Objective Possible pleiotropic effects of apolipoprotein E4 (APOE E4) in individuals with congenital brain malformations are relatively unknown. Our goal was to determine if neurodegeneration‐linked brain region volumes differ significantly between E4 carriers and noncarriers in young adults with spina bifida (SB). Methods Eleven individuals ( 
Joan M. Jasien, Jacques A. Stout, Mohamad A. Mikati, Robert J. Anderson, Brittany G. Nave, Herbert E. Fuchs, Brian Smith, Alexandra Badea, Jeffrey N. Browndyke   +8 more
wiley   +1 more source

Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities. [PDF]

Genet Med
Scala M, Khan K, Beneteau C, Fox RG, von Hardenberg S, Khan A, Joubert M, Fievet L, Musquer M, Le Vaillant C, Holsclaw JK, Lim D, Berking AC, Accogli A, Giacomini T, Nobili L, Striano P, Zara F, Torella A, Nigro V, Cogné B, Salick MR, Kaykas A, Eggan K, Capra V, Bézieau S, Davis EE, Wells MF.   +27 more
europepmc   +1 more source

Change of blood group from A2 to Ax in a child with congenital abnormalities. [PDF]

, 1975
G. W. G. Bird, Keith Roberts, June Wingham   +2 more
openalex   +1 more source

Cardiovascular defects associated with abnormalities in midline development in the Loop-tail mouse mutant [PDF]

, 2001
Anderson, RH, Conway, SJ, Copp, AJ, Gerrelli, D, Greene, NDE, Henderson, DJ, Murdoch, JN   +6 more
core   +1 more source

Chronic hypertension with related drug treatment of pregnant women and congenital abnormalities in their offspring: a population-based study

Hypertension Research, 2011
F. Bánhidy, N. Ács, E. Puhó, A. Czeizel   +3 more
semanticscholar   +1 more source

Hallmarks of Neuroblastoma—Pathophysiology, Diagnosis, and Therapeutic Interventions

Cancer Nexus, EarlyView.
ABSTRACT Neuroblastoma, the most common extracranial solid tumor in childhood, continues to challenge clinicians and researchers because of its heterogeneous nature and complex pathophysiology. Recent breakthroughs in molecular profiling revealed intricate genetic alterations driving tumor progression, necessitating an updated perspective on the ...
Abhimanyu Thakur, Anne Dijkstra
wiley   +1 more source

A Rare Case of Mosaic Unbalanced Non-Robertsonian Translocation Involving Chromosomes 15 and 22 with Congenital Abnormalities in Monozygotic Twins. [PDF]

Mol Syndromol, 2020
Atli EI, Atli E, Yalcintepe S, Gurkan H.
europepmc   +1 more source

Conception and congenital abnormalities after chemotherapy for leukaemia. [PDF]

, 1976
P. Barkhan, Pamela Evans
openalex   +1 more source

Peptic ulcer disease with related drug treatment in pregnant women and congenital abnormalities in their offspring

Congenital Anomalies, 2011
F. Bánhidy, Abdallah Dakhlaoui, E. Puhó, A. Czeizel   +3 more
semanticscholar   +1 more source

Advanced Imaging and Cytometric Techniques to Characterize Lipid Accumulation in Wolman Disease

Cytometry Part A, EarlyView.
ABSTRACT Wolman disease (WD) is a severe lysosomal storage disorder characterized by fatal lipid accumulation caused by the deficiency of a lipid metabolic enzyme, Lysosomal Acid Lipase (LAL), involved in the lysosomal hydrolysis of cholesterols and triglycerides.
Marine Laurent, Jérémie Cosette, Giulia Pavani, Sarah Bayol, Christine Jenny, Rim Harb, Julie Oustelandt, Anais Brassier, Daniel Stockholm, Mario Amendola   +9 more
wiley   +1 more source