Results 101 to 110 of about 22,198 (205)

Antipsychotic Use Among Intellectually Disabled Individuals With Rare Genetic Variants That Confer Risk for Schizophrenia

Journal of Intellectual Disability Research, Volume 70, Issue 4, Page 440-445, April 2026.
ABSTRACT Background Rare genetic variation can predispose individuals to the development of schizophrenia, with certain genes and copy number variants (CNVs) conferring risk at the exome/genome‐wide level. Despite this strong association, little is known about antipsychotic effectiveness and tolerability among individuals with most of these disorders ...
Mark Ainsley Colijn
wiley   +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

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

Associations of DNA Methylation Mortality Risk Markers with Congenital Microcephaly from Zika Virus: A Study of Brazilian Children Less than 4 Years of Age. [PDF]

J Trop Pediatr, 2021
Nwanaji-Enwerem JC, Laan LV, Avakame EF, Scott KA, Burris HH, Cardenas A.   +5 more
europepmc   +1 more source

Prenatal Diagnosis of Renal Anomalies Associated With a Novel Causative Variant in RAP1B Gene

Clinical Case Reports, Volume 14, Issue 3, March 2026.
A case of prenatal renal cystic disease and unilateral renal agenesis is reported. Molecular investigations including TRIO next‐generation sequencing analysis using the Clinical exome sequencing protocol identified the c.179G>T, p.(Gly60Val) “de novo” variant in a heterozygous state in the RAP1B gene.
Adalgisa Cordisco, Stefania Magliulo, Chiara Di Marco, Elisa Fortuna, Alessandra Terracciano, Claudio Meloni   +5 more
wiley   +1 more source

Expression of Purinergic and Endothelial Activation Markers in Brain Tissue From Fatal Microcephaly Associated With ZIKV

Immunity, Inflammation and Disease, Volume 14, Issue 3, March 2026.
ABSTRACT Background Zika virus (ZIKV) is a flavivirus that has gained global attention due to its association with congenital microcephaly and neuroinflammatory responses. Markers of endothelial activation and purinergic signaling have been identified in the context of ZIKV neuropathogenesis, although the underlying mechanisms remain poorly understood.
Jorge Rodrigues de Sousa, Gustavo Batista Ferro, Leticia Vieira Teixeira, Carlos Silva, Ligia Lima, Orlando Neto, Raimunda Azevedo, Jannifer Oliveira Chiang, Livia Medeiros Neves Casseb, Arnaldo Jorge Martins Filho, Lívia Caricio Martins, Juarez Antônio Simões Quaresma, Pedro Fernando da Costa Vasconcelos   +12 more
wiley   +1 more source

Congenital microcephaly with early onset epileptic encephalopathy caused by ASNS gene mutation: A case report. [PDF]

Medicine (Baltimore), 2020
Chen C, Hao Y, Liang J, Liu X.
europepmc   +1 more source

Congenital Microcephaly [PDF]

, 2020
openaire   +1 more source

Abnormal Newborn Screening Resembling Carnitine Palmitoyltransferase 1a Deficiency in Three Patients With COASY Protein Associated Neurodegeneration

JIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT COASY protein associated neurodegeneration is a rare, progressive autosomal recessive neuroferritinopathy due to pathogenic mutations in the COASY gene, coding for the mitochondrial located coenzyme A synthase. Clinical manifestations include seizures, progressive spasticity, dystonia, neuropathy, cognitive decline and neuropsychiatric ...
Matthew Lynch, Sophie Manoy, Claire Murray, Geoff Wallace, Nolette Pereira, Ricky Price, Anita Inwood, Jim McGill, David Coman   +8 more
wiley   +1 more source

Spatiotemporal Analysis of the Population Risk of Congenital Microcephaly in Pernambuco State, Brazil. [PDF]

Int J Environ Res Public Health, 2020
Alexander NDE, Souza WV, Rodrigues LC, Braga C, Sá A, Bezerra LCA, Turchi Martelli CM.   +6 more
europepmc   +1 more source