Results 141 to 150 of about 290,347 (229)

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

Genomic and phenotypic delineation of congenital microcephaly

, 2018
Congenital microcephaly (CM) is an important birth defect with long term neurological sequelae. We aimed to perform detailed phenotypic and genomic analysis of patients with Mendelian forms of CM.Clinical phenotyping, targeted or exome sequencing, and ...
Abdulwahab, Firdous, Al-Owain, Mohammed, Maddirevula, Sateesh, Alkhalifi, Salwa, Aglan, Mona, Shaheen, Ranad, Patel, Nisha, Partlow, Jennifer N., Alobeid, Eman, Fregeau, Brieana, Tulbah, Maha, Tala, Saeed Al, Şahintürk, Serdar, Sherr, Elliott, Ewida, Nour, Kentab, Amal, Alhazzani, Fahad, Saffar, Muna Al, Arold, Stefan T., Alshahwan, Saad Ali M., Abouelhoda, Mohamed, Tabarki, Brahim, Alsahli, Saud, Seidahmed, Mohammed Zain, Temtamy, Samia, Sogati, Samira, Abdel-Salam, Ghada M. H., Alhashem, Amal, Bashiri, Fahad A., Otaify, Ghada, Momin, Afaque Ahmad Imtiyaz, Al-Sheddi, Tarfa, Alwadei, Ali H., Alhumaidi, Zainab, Salih, Mustafa A., Alkuraya, Fowzan S., Hashem, Mais, Abadel, Basma, Girisha, Katta M., Hamad, Muddathir, Alazami, Anas M., Walsh, Christopher, Softah, Ameen, Alomar, Rana, Ibrahim, Niema, Faqeih, Eissa, Zaki, Maha S.   +46 more
core   +1 more source

Case‐malformed signal detection and prioritisation using EUROmediCAT data for pharmacovigilance in pregnancy

British Journal of Clinical Pharmacology, Volume 92, Issue 10, Page 3586-3597, October 2026.
Aim Many women take medications during pregnancy. However, the risk to the fetus from most medications is uncertain. Congenital anomalies are one of the leading causes of infant death and contribute to long‐term disability. Signal detection methods can be used to systematically identify possible medication–anomaly associations that require further ...
Hannah Johnson, Helen Dolk, Maria Loane, Christine Damase‐Michel, Joanne Given, Hedvig Nordeng, Jorieke E. H. Bergman, Iain Carey, Elly Den Hond, Ester Garne, Florence Rouget, Lea Bruneau, Isabelle Monier, Anke Rissmann, Mary O'Mahony, Miriam Gatt, Renée Lutke, Joanna Sichitiu, Elisa Ballardini, Alessio Coi, Clara Cavero Carbonell, David Tucker, Joan Morris   +22 more
wiley   +1 more source

Cross‐Reactive Neutralizing Antibodies Between ZIKV and DENV May Exhibit Serotype Specificity

Biotechnology Journal, Volume 21, Issue 10, October 2026.
Graphical Abstract and Lay Summary Immunization with ZIKV protein extract may induce serotype‐specific neutralizing antibodies against DENV. ABSTRACT Dengue virus (DENV) and Zika virus (ZIKV) are public health threats, causing substantial morbidity and mortality worldwide.
Lucimeire Antonelli da Silveira, Djairo Pastor Saavedra, Isabela Cinquini Junqueira, Jefferson do Carmo Dietz, Cristina Rodrigues de Oliveira, Leonardo Lopes‐Luz, Lorena Carvalho de Souza Chaves, Bergmann Morais Ribeiro   +7 more
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

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

A Novel Homozygous Frameshift Variant in ZNF699 Associated With DEGCAGS Syndrome With Severe Transfusion‐Dependent Anemia in an Indian Child: A Case Report

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT In children with unexplained multisystem involvement—global developmental delay, dysmorphism, skeletal anomalies, and severe transfusion‐dependent anemia—especially from consanguineous families, whole‐exome sequencing should be pursued early to enable timely diagnosis, proactive iron chelation, and genetic counseling.
Arimanda Chaitanya Laasya Reddy, A. Vamshee Priya, Aditya Pachwa, Boilla Abhignya Reddy, Lakshya Nehal Samineni, Lanka Gourav Reddy   +5 more
wiley   +1 more source

Craniofacial Morphology and Dental Age Assessment in Pediatric Craniosynostosis: A Comparative Cross‐Sectional Study

Clinical and Experimental Dental Research, Volume 12, Issue 5, October 2026.
ABSTRACT Objectives To delineate the craniofacial morphometric characteristics of Thai children with syndromic (SC) and non‐syndromic craniosynostosis (NSC) and to assess dental maturation relative to Chronological Age (CA). Methods This comparative cross‐sectional study evaluated 19 patients (SC: n = 13; NSC: n = 6; mean age 9.32 ± 2.67 years ...
Nutthakarn Ratanasereeprasert, Yanisa Wongbanthit, Narin Intarak, Preeya Suwanwitid, Chutimont Teekavanich, Anand Marya, Guang Hong, Thantrira Porntaveetus   +7 more
wiley   +1 more source

Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features. [PDF]

Eur J Hum Genet, 2020
Scala M, Chua GL, Chin CF, Alsaif HS, Borovikov A, Riazuddin S, Riazuddin S, Chiara Manzini M, Severino M, Kuk A, Fan H, Jamshidi Y, Toosi MB, Doosti M, Karimiani EG, Salpietro V, Dadali E, Baydakova G, Konovalov F, Lozier E, O'Connor E, Sabr Y, Alfaifi A, Ashrafzadeh F, Striano P, Zara F, Alkuraya FS, Houlden H, Maroofian R, Silver DL.   +29 more
europepmc   +1 more source

The role of Rho GTPases in facial morphogenesis

Developmental Dynamics, Volume 255, Issue 10, Page 931-944, October 2026.
The role of small GTPases, RHOA, RAC1, and CDC42 and pathway mediators is reviewed in the context of embryonic facial development. Lip fusion requires cytoskeletal remodeling during morphogenesis of the facial processes and during lip fusion. Fnm, frontonasal mass; lnp, lateral nasal process; mnp, medial nasal process; mxp, maxillary process; np, nasal
Isra Ibrahim, Joy M. Richman
wiley   +1 more source