Results 221 to 230 of about 67,545 (327)

Pontocerebellar Hypoplasia Type 1 and Associated Neuronopathies. [PDF]

Genes (Basel)
Škarica M, Acsadi G, Živković SA.
europepmc   +1 more source

PTCH1 duplication in a family with microcephaly and mild developmental delay [PDF]

, 2008
Katarzyna Derwińska, Marta Smyk, M. Lance Cooper, Patricia I. Bader, Sau Wai Cheung, Paweł Stankiewicz   +5 more
openalex   +1 more source

Radial Microbrain (Micrencephaly) Is Caused by a Recurrent Variant in the <i>RTTN</i> Gene. [PDF]

Neurol Genet
Gins C, Guimiot F, Drunat S, Prévost C, Rosenblatt J, Capri Y, Letard P, Khung-Savatovsky S, Mahi Henni MA, Elalaoui SC, Alison M, Guilmin Crepon S, Gressens P, Verloes A, Basto R, El Ghouzzi V, Passemard S.   +16 more
europepmc   +1 more source

Abnormal DNA Methylation Profile Suggests the Extension of the Clinical Spectrum of the SETD2 ‐Related Disorders to a Syndromic Multiple Tumor Phenotype

American Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.
ABSTRACT SETD2 has an essential role in epigenetic regulation. SETD2 pathogenic variants cause neurodevelopmental disorders (SETD2‐NDDs) that most commonly include various degrees of intellectual disability and behavioral disorders, macrocephaly, brain malformations, and generalized overgrowth.
Marie Lucain, Antonio Vitobello, Bekim Sadikovic, Juliette Albuisson, Léa Gaudillat, Martin Chevarin, Julien Maraval, Christel Thauvin‐Robinet, Jennifer Kerkhof, Christophe Philippe, Sophie Nambot, Laurence Faivre   +11 more
wiley   +1 more source

Primary microcephaly: do all roads lead to Rome? [PDF]

, 2009
Gemma Thornton, C. Geoffrey Woods
openalex   +1 more source

A low pre-existing anti-NS1 humoral immunity to DENV is associated with microcephaly development after gestational ZIKV exposure. [PDF]

PLoS Negl Trop Dis
Castro-Trujillo S, Mejía WR, Segura K, Castro-Meneses J, Vega R, Salgado D, Fonseca CE, Ortiz ÁM, Perdomo-Celis F, Bosch I, Narváez CF.   +10 more
europepmc   +1 more source

Fatal Case of Salmonella enterica subsp. arizonae Gastroenteritis in an Infant with Microcephaly

, 2003
Rakesh Kumar Mahajan, Shoeb Akhtar Khan, Dinesh S. Chandel, Navin Kumar, C Hans, Rama Chaudhry   +5 more
openalex   +1 more source

Common molecular causes for congenital heart defects and microcephaly [PDF]

, 2009
Christoph Bührer, Angela M. Kaindl
openalex   +1 more source

Case Report: A neurodevelopmental disorder with global developmental delay, microcephaly, eye anomalies, sweat dysregulation, and skeletal implications due to an ultra-rare <i>de novo</i> 5q14.3q15 copy number gain. [PDF]

Front Genet
Serban CL, Mihailescu A, Miclea D, Zimbru CG, Stoica F, Chirita-Emandi A.   +5 more
europepmc   +1 more source

Fish species lifespan prediction from promoter cytosine‐phosphate‐guanine density

Molecular Ecology Resources, Volume 25, Issue 5, July 2025.
Abstract Lifespan is a key attribute of a species' life cycle and varies extensively among major lineages of animals. In fish, lifespan varies by several orders of magnitude, with reported values ranging from less than 1 year to approximately 400 years.
Alyssa M. Budd, Benjamin Mayne, Oliver Berry, Simon Jarman   +3 more
wiley   +1 more source