Results 251 to 260 of about 67,545 (327)

Adaptive Reproductive Strategies in Schizothoracine Fishes: Dual Spawning Phases and Environmental Synchronization in Himalayan Ecosystems

Aquaculture, Fish and Fisheries, Volume 5, Issue 3, June 2025.
ABSTRACT Schizothoracine fishes, endemic to the Himalayan region, exhibit remarkable adaptive reproductive strategies in response to their challenging high‐altitude aquatic environments. This review synthesizes current knowledge on the dual spawning phases and environmental synchronization observed in these species, with a focus on the genus ...
Syed Talia Mushtaq
wiley   +1 more source

Case Report: Biallelic <i>BRCA1</i> pathogenic alterations in a Fanconi Anemia patient and clinical implications of variant location. [PDF]

Front Oncol
Young CC, Lahr A, Nestor C, Kaminski A, Richardson ME, Arnold GL.   +5 more
europepmc   +1 more source

Zika virus and microcephaly [PDF]

The Lancet Infectious Diseases, 2016
openaire   +3 more sources

Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant

American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT P21‐activated kinase 2 (PAK2) is a serine/threonine kinase essential for a variety of cellular processes including signal transduction, cellular survival, proliferation, and migration. A recent report proposed monoallelic PAK2 variants cause Knobloch syndrome type 2 (KNO2)—a developmental disorder primarily characterized by ocular anomalies ...
Elizabeth A. Werren, Louisa Kalsner, Jessica M. Ewald, Michael Peracchio, Cameron King, Purva Vats, Peter A. Audano, Peter N. Robinson, Mark D. Adams, Melissa A. Kelly, Adam P. Matson   +10 more
wiley   +1 more source

Neonatal Microcephaly and Central Nervous System Abnormalities During the Zika Outbreak in Rio de Janeiro. [PDF]

Viruses
Martins MM, Medronho RA, Raymundo CE, Prata-Barbosa A, da Cunha AJLA.   +4 more
europepmc   +1 more source

Clinical Insights Into Nabais Sá‐De Vries Syndrome due to a Novel SPOP Mutation: Neuromotor, Cognitive, Adaptive, Behavioral, and Neurovisual Features

American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT Nabais Sá‐De Vries syndrome (NSDVS) is an extremely rare autosomal dominant disorder caused by SPOP mutations. To date, only 10 cases have been described presenting with intellectual disability, neurological signs and symptoms, and a variable association of dysmorphic features.
Jessica Galli, Erika Loi, Federica Zanardini, Giovanna Baldoni, Francesca Novara, Serena Panigada, Roberto Ciccone, Maria Rosa Cutrì, Alice Bertoletti, Lorenzo Pinelli, Elisa Fazzi   +10 more
wiley   +1 more source

Molecular and clinical aspects of histone-related disorders. [PDF]

Hum Genomics
Al Ojaimi M, Banimortada BJ, Alragheb A, Hajir RS, Alves C, Walid D, Raza A, El-Hattab AW.   +7 more
europepmc   +1 more source

No microcephaly for Hobbit [PDF]

Genome Biology, 2005
openaire   +2 more sources

MTSS2 ‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review

American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT MTSS2 encodes a protein highly expressed in the central nervous system, with a crucial role in neurodevelopment. The de novo recurrent variant c.2011C>T (p.Arg671Trp) was first identified in 2022 as cause of Intellectual Developmental Disorder with ocular anomalies and distinctive facial features (OMIM#620086).
Angela De Dominicis, Francesca Piceci Sparascio, Fabrizia Stregapede, Alessandra Terracciano, Daniela Verrigni, Francesca Romana Lepri, Sarah Cetola, Maria Lisa Dentici, Federico Vigevano, Antonio Novelli, Nicola Specchio, Marina Trivisano, Maria Cristina Digilio   +12 more
wiley   +1 more source

Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation. [PDF]

HGG Adv
McGivern B, Holling T, Guillen Sacoto MJ, Gudbjartsson H, Abdelrazek IM, Alawi M, Bai Y, Bodamer O, Crunk A, Dameron AE, Dyer LM, Henderson LB, Irons M, Kutsche K, McGowan C, Monaghan KG, O'Connor K, Rashid A, Redlich OL, Reich A, Simotas C, Welner S, Wentzensen IM.   +22 more
europepmc   +1 more source