Results 241 to 250 of about 87,727 (384)

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

A Further Case Supporting PDCD6IP as the Gene Responsible for a Neurodevelopmental Disorder With Microcephaly. [PDF]

Clin Genet
D'Alessio AM, Torella A, Morleo M, Nigro V, TUDP Study Group, Brunetti-Pierri N.   +5 more
europepmc   +1 more source

Previously described sequence variant in CDK5RAP2gene in a Pakistani family with autosomal recessive primary microcephaly [PDF]

, 2007
Muhammad Jawad Hassan, Maryam Khurshid, Zahid Azeem, Peter John, Ghazanfar Ali, Muhammad Salman Chishti, Wasim Ahmad   +6 more
openalex   +1 more source

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Orofacial myofunctional and anthropometric characteristics of children with and without microcephaly: a case-control study. [PDF]

J Appl Oral Sci
Medeiros AMC, Nobre GRD, Rezende GDES, Barreto ÍDC, Cardenas JEV, Nascimento SCS, Matos ALDS, Pereira ASM, Gurgel RQ, Berretin-Felix G.   +9 more
europepmc   +1 more source

Erratum: A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia [PDF]

, 2007
Éva Morava, Renate Zeevaert, Eckhard Korsch, Karin Huijben, Suzan Wopereis, Gert Matthijs, Kathelijn Keymolen, Dirk J. Lefeber, Linda De Meırleır, Ron A. Wevers   +9 more
openalex   +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

Prenatal diagnosis of fetal microcephaly: contribution of power Doppler [PDF]

, 2000
B. W. Mol, F. van der Veen
openalex  

Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero‐posterior gradient pre‐ and post‐natally [PDF]

, 2008
Julie Désir, Marie Cassart, Philippe David, Patrick Van Bogaert, Marc Abramowicz   +4 more
openalex   +1 more source

Exploring a Circulating miRNA Signature for PMM2‐CDG: Initial Insights Toward Diagnosis, Stratification, and Monitoring

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Phosphomannomutase deficiency (PMM2‐CDG) is the most common congenital disorder of glycosylation, characterized by variable early‐onset neurological (hypotonia, cerebellar syndrome, developmental delay) and multi‐organ manifestations. Although several clinical trials are ongoing, current biomarkers lack prognostic or monitoring utility ...
Florencia Epifani, Lluc Cabus, Gregorio A. Nolasco, Mercè Bolasell, Jennifer Pérez, Adrián Alcalá, Patricia Fernández, Esther Lizano, Gisela Márquez, Sonia Belmonte, Sílvia Carbonell‐Sala, Julien Lagarde, Joao Curado, Cristina Hernando‐Davalillo, Mercedes Serrano   +14 more
wiley   +1 more source