Results 271 to 280 of about 199,619 (340)

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M. A. Verhagen, Alexander Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Eva Martinez, Anne O'Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, Francis David I, Natasha J. Brown   +16 more
wiley   +1 more source

Urological, Digestive and Motor Function in Children After Prenatal or Postnatal Repair of Myelomeningocele. [PDF]

Pediatr Rep
Łoskot M, Koszutski T.
europepmc   +1 more source

The Genetic Basis of Hydrocephalus.

Annual Review of Neuroscience, 2016
M. Kousi, N. Katsanis
semanticscholar   +1 more source

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher, Orli Greenberg, Patrick Shannon, Andrea Staines, Bobbi McGivern, Melanie Patricia Napier, David Chitayat   +6 more
wiley   +1 more source

Inhibition of NF-κB pathways alleviates hydrocephalus via modulation of choroid plexus epithelium inflammation in a rat intraventricular hemorrhage model. [PDF]

PLoS One
Sun T, Yuan Y, Zhou Y, Wu K, You C, Guan J.   +5 more
europepmc   +1 more source

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero, Marco Antonio Hernández Lepe, José de Jesús Manríquez Torres, Diego Daniel Aguirre‐Gómez, Natsuo Hayashi‐Mercado, Genaro Rodríguez Uribe, Tadeo Cerón, María Ruiz‐Gamboa, Jesús Alonso Gándara‐Mireles, Ismael Lares‐Asseff, Verónica Loera‐Castañeda, Jorge Alvelais‐Palacios, Lucrecia Arzamendi‐Cepeda, Lidia Magdalena Castañeda‐González, Adolfo García‐Barrón, Francisco Yamal Quiroz Herrera, Francisco González‐Salazar, Horacio Almanza‐Reyes   +17 more
wiley   +1 more source

Congenital Holoprocencephaly, Hydrocephalus, and Dandy-Walker Malformation Due to Plasminogen Deficiency. [PDF]

Cureus
Antonakopoulos N, Perdikaris P, Styliara I, Tzela P, Adonakis G.   +4 more
europepmc   +1 more source

Digital neuropathology of neurodegenerative disorders: Foundations, research advances, and future directions

Alzheimer's &Dementia, Volume 21, Issue 11, November 2025.
Abstract A neuropathology examination after death remains the gold standard for differentiating between Alzheimer disease (AD) and AD and related dementias (ADRD). Increasing interest and familiarity with digital imaging highlights recent shifts to modernize pathology workflows by leveraging technology that automates imaging and analysis.
Aaron M. Rosado, Juan C. Vizcarra, Shivam R. Rai Sharma, Cristopher Dirk Keene, Charles L. White III, Ain Kim, Shelley L. Forrest, Gabor G. Kovacs, Chen‐Nee Chuah, Margaret E. Flanagan, Thomas M. Pearce, Brittany N. Dugger, David A. Gutman   +12 more
wiley   +1 more source

Correction: Cognitive profile and frailty in patients with idiopathic normal pressure hydrocephalus. [PDF]

Front Neurol
Dejgaard MS, Eide PK, Tangen GG, Skovlund E, Selbæk G, Wyller TB.   +5 more
europepmc   +1 more source

Prevalence and Clinical Impact of Alpha-Synuclein Pathology in Idiopathic Normal Pressure Hydrocephalus: Insights from Rt-Quic Assay

Jae-Ho Yu, Young‐Eun Kim, HK Choi, Dongwoo Kim, Phạm Bích Ngọc, In Hee Kwak, Huu Nguyen, T. Nguyen Thanh, Suk Jun Song, Jeffrey Lee, Hyeo‐Il Ma   +10 more
openalex   +1 more source