Results 111 to 120 of about 22,740 (195)

Congenital microcephaly with early onset epileptic encephalopathy caused by ASNS gene mutation: A case report. [PDF]

Medicine (Baltimore), 2020
Chen C, Hao Y, Liang J, Liu X.
europepmc   +1 more source

Congenital Microcephaly [PDF]

, 2020
openaire   +1 more source

CUL3‐Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype

Prenatal Diagnosis, Volume 46, Issue 7, Page 1122-1129, June 2026.
ABSTRACT Objective Pathogenic variants of the CUL3 gene are known to cause a neurodevelopmental disorder with a partially described prenatal phenotype. This study further characterizes and expands the spectrum of prenatal sonographic findings associated with the disorder to improve prenatal diagnosis and counseling.
Yoel Gofin, Tania Dery, Tamar Tenne, Racheli Goldfarb Yaacobi, Emilie Block, Marina Lifshitc Kalis, Hagar Mor‐Shaked, Liza Douiev‐Charpak, Rivka Birnbaum, Mordechai Shohat, Ofer Markovich, Debora Kidron, Rivka Sukenik‐Halevy   +12 more
wiley   +1 more source

Spatiotemporal Analysis of the Population Risk of Congenital Microcephaly in Pernambuco State, Brazil. [PDF]

Int J Environ Res Public Health, 2020
Alexander NDE, Souza WV, Rodrigues LC, Braga C, Sá A, Bezerra LCA, Turchi Martelli CM.   +6 more
europepmc   +1 more source

Congenital nephrotic syndrome with microcephaly: report of a case.

Journal of the Formosan Medical Association = Taiwan yi zhi, 1995
Congenital nephrotic syndrome is an uncommon disease with variable etiology, course and prognosis; its association with microcephaly is even more unusual. A case is reported here of congenital nephrotic syndrome because of focal glomerulosclerosis in a three-month-old female infant with microcephaly since birth.
C H, Yu, W S, Tsai, P J, Wang, Y K, Tsau, G C, Tseng, T R, Wang   +5 more
openaire   +1 more source

Sequence and structural alignments reveal insights into ANKLE2 evolution and function

Protein Science, Volume 35, Issue 6, June 2026.
Abstract ANKLE2 is an enigmatic protein with emerging roles in cell division, development, and virus replication. While ANKLE2 orthologs are present in all animals, its domain composition has evolved over time. ANKLE2's two namesake domains, the ankyrin repeat and LEM domains (named for LAP2, Emerin, and MAN1), have clear and defined roles; however ...
Adam T. Fishburn, Cole J. Florio, Chase L. S. Skawinski, Sydney S. Becker, Ethan Holleman, Avery E. Robertson, Rees Sitchon, Frédéric Chédin, Priya S. Shah   +8 more
wiley   +1 more source

Congenital disorders. Microcephalia [PDF]

Orvosi Hetilap, 2011
József Gábor, Joó, Akos, Csaba, Miklós, Németh, Zoltán, Langmár   +3 more
openaire   +2 more sources

Orchestrating mitochondrial protein import: The emerging role of DYRK1A in health and disease

Protein Science, Volume 35, Issue 6, June 2026.
Abstract The translocase of the outer mitochondrial membrane (TOM complex) serves as the central entry gate for more than 1000 nuclear‐encoded precursor proteins imported into the organelle. Recently, the human import receptor TOM70 has been identified as a substrate of the serine/threonine kinase DYRK1A.
Sahana Shankar, Chris Meisinger
wiley   +1 more source

Neurological Findings in Children without Congenital Microcephaly Exposed to Zika Virus in Utero: A Case Series Study. [PDF]

Viruses, 2020
Abtibol-Bernardino MR, de Almeida Peixoto LFA, de Oliveira GA, de Almeida TF, Rodrigues GRI, Otani RH, Soares Chaves BC, de Souza Rodrigues C, de Andrade ABCA, de Fatima Redivo E, Fernandes SS, da Costa Castilho M, Gomes Benzecry S, Bôtto-Menezes C, Martinez-Espinosa FE, Costa Alecrim MDG.   +15 more
europepmc   +1 more source

Public Health Implications of High Cytomegalovirus Seroprevalence in Pregnancy: A Cross‐Sectional Study in Western Uganda

Public Health Challenges, Volume 5, Issue 2, June 2026.
Among immediate postpartum women in western Uganda, maternal CMV seroprevalence was high (81.2%) and was predominantly chronic or non‐primary infection. Older age, rural residence, lower education, and prior spontaneous abortion were associated with seropositivity, supporting targeted maternal CMV education and evaluation of context‐appropriate ...
Bashir Mohamed Naima, Marie Pascaline Sabine Ishimwe, Theodore Nteziyaremye, Jean de Dieu Rukamba, Musa Kasujja, Theoneste Hakizimana   +5 more
wiley   +1 more source