Results 181 to 190 of about 70,338 (285)

Compound Heterozygous <i>PNKP</i> Variants Causing Developmental and Epileptic Encephalopathy with Severe Microcephaly: Natural History of Two New Cases and Literature Review. [PDF]

NeuroSci
Ragona F, Messina G, Magri S, Doniselli FM, Freri E, Canafoglia L, Solazzi R, Gellera C, Granata T, DiFrancesco JC, Castellotti B.   +10 more
europepmc   +1 more source

Gene‐Specific Growth Charts for ASXL3 ‐Related Disorder

American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 978-981, April 2026.
E. Woods, K. J. Low, T. J. Cole, M. Balasubramanian   +3 more
wiley   +1 more source

A Case of FAM111A-Associated Kenny-Caffey Syndrome Type 2 with New Clinical Features: Microtia, Lacunar Skull Appearance, and Arnold-Chiari Malformation. [PDF]

Mol Syndromol
Doğan Arı AB, Türkyılmaz A, Keçeli AM, Önen M, Kılıç E.   +4 more
europepmc   +1 more source

Mechanisms of parasite‐mediated disruption of brain vessels

FEBS Letters, Volume 600, Issue 5, Page 591-611, March 2026.
Parasites can affect the blood vessels of the brain, often causing serious neurological problems. This review explains how different parasites interact with and disrupt these vessels, what this means for brain health, and why these processes matter. Understanding these mechanisms may help us develop better ways to prevent or treat brain infections in ...
Leonor Loira, Sílvia Arroz‐Madeira, Cláudio A. Franco, Sara Silva Pereira   +3 more
wiley   +1 more source

ZMYND11 p.Arg600Trp variant associated with a distinctive neurodevelopmental phenotype. [PDF]

Hum Genome Var
Yoshimatsu H, Kido J, Sawada T, Sugawara K, Misumi Y, Hayashi Y, Fujita A, Matsumoto N, Ueda M, Nakamura K.   +9 more
europepmc   +1 more source

Microcephaly [PDF]

, 2020
openaire   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Cardiac findings in infants with in utero exposure to Zika virus - a follow up longitudinal study. [PDF]

PLoS Negl Trop Dis
Dang BN, Kikuta K, Fuller T, Brasil P, Vasconcelos Z, Orofino DHG, Moreira MEL, Nielsen-Saines K.   +7 more
europepmc   +1 more source

Recurrent Constellations of Embryonic Malformations (RCEM): Teratogenicity Linked to Transient Hypoxia and Hormone Pregnancy Tests Agrees With RCEM and Suggest a Reactive Oxygen Species Pathogenesis

Birth Defects Research, Volume 118, Issue 3, March 2026.
ABSTRACT Background No consistent genetic etiology has been found for a group of six different conditions in humans with multiple malformations called “recurrent constellations of embryonic malformations” (RCEM). Recent studies indicate hypoxia/reoxygenation and generation Reactive Oxygen Species (ROS) as an underlying mechanism for RCEM with the ...
Aaron P. Adam, Helen E. Ritchie, Margaret P. Adam, Bengt R. Danielsson   +3 more
wiley   +1 more source

Regulation of Choroid Plexus Bicarbonate Transporters Following Intraventricular Hemorrhage in Mice

Cell Biochemistry and Function, Volume 44, Issue 3, March 2026.
ABSTRACT Posthemorrhagic hydrocephalus is a severe complication to intraventricular hemorrhage. The condition results in enlarged brain ventricles and increased intracranial pressure due to accumulation of cerebrospinal fluid (CSF). In this study, two mouse models of intraventricular hemorrhage were investigated: injection of lysed red blood cells ...
Laura Øllegaard Johnsen, Rasmus Herløw, Rasmus West Knopper, Thomas Beck Lindhardt, Brian Hansen, Helle Hasager Damkier   +5 more
wiley   +1 more source