Results 271 to 280 of about 90,161 (348)

Prevalence and clinical profile of microcephaly in South America pre-Zika, 2005-14: prevalence and case-control study [PDF]

, 2017
Iêda M. Orioli, Helen Dolk, Jorge S. López‐Camelo, Daniel Mattos, Fernando A. Poletta, M. G. Dutra, Flávia Martinez de Carvalho, Eduardo E. Castilla   +7 more
openalex   +1 more source

The Baraitser–Winter Cerebrofrontofacial Syndrome Recurrent R196H Variant in Cytoplasmic β‐Actin Impairs Its Cellular Polymerization and Stability

The FASEB Journal, Volume 40, Issue 1, 15 January 2026.
BWCFF, a severe disease with neurological symptoms, is caused by mutations in the cytoskeletal actin genes. Patient‐derived fibroblasts carrying the R196H β‐actin mutation were compared to wild type cells. The mutant cells displayed slower proliferation and migration and a lower F‐actin content, which correlated with reduced cell stiffness ...
Éva Gráczer, Elena Battirossi, Tamás Bozó, Áron Gellért Altorjay, Katalin Pászty, Laura Harsányi, Johannes N. Greve, Irene Pertici, Massimo Reconditi, Nataliya Di Donato, Miklós Kellermayer, Pasquale Bianco, Andrea Varga   +12 more
wiley   +1 more source

Recessive AARS1 variants perturb human and mouse development. [PDF]

HGG Adv
Watts JL, Costantino N, Husami A, Dayarathna T, Willeke L, Peña LDM, Seiwert E, Gilbert DL, Stottmann RW.   +8 more
europepmc   +1 more source

Clinical and Molecular Heterogeneity Underlying Monogenic Causes of Pediatric Diabetes Associated to Brain Developmental Disorders. [PDF]

Clin Genet
Di Pasquale G, Valsecchi C, Smylie GM, Salpietro V, Zuccotti GV, Delvecchio M, Mameli C.   +6 more
europepmc   +1 more source

Sensorial function in children with congenital Zika syndrome: what is the relationship with motor function? [PDF]

Rev Paul Pediatr
Brito ASS, Meira CAC, Moreira KMA, Santino TA, Tavares JS, Gama GL, Melo A.   +6 more
europepmc   +1 more source

Case Report: Compound heterozygous <i>CEP152</i> c.3346-5T>C variant and chr15 deletion causing recurrent MCPH-SCKS in a Chinese pregnant woman across two consecutive pregnancies. [PDF]

Front Genet
Zhang T, Yuan H, Shi X, He Y, Pan H, Zhong Y, Zhang J, Yang Z, Ke Y, Chen Y, Zhang F.   +10 more
europepmc   +1 more source

Clinicoradiological profile of children presenting with global developmental delay and microcephaly

Shreyas.T.S. Phayde, Suneel C Mundkur, Rochelle Anne Pereira, Leslie Lewis, Shrikiran Aroor, Ramesh Bhat Y, Pushpa Kini, Karen Janice Moras   +7 more
openalex   +2 more sources

Neurogenetic Disorders with Hearing Loss: Mechanisms, Classifications, and Emerging Insights. [PDF]

Curr Neurol Neurosci Rep
Owrang D, Vona B.
europepmc   +1 more source

The TH1/TH2 Response Imbalance Zika Virus Pathogenesis: An Immunological Paradox. [PDF]

APMIS
Menezes C, Martins L, Ferro G, Arnaud B, Quaresma J, Vasconcelos P, Sousa J.   +6 more
europepmc   +1 more source

Severe NDE1-mediated microcephaly results from neural progenitor cell cycle arrests at multiple specific stages

, 2016
David J. Doobin, Shahrnaz Kemal, Tiago J. Dantas, Richard B. Vallee   +3 more
openalex   +1 more source