Results 151 to 160 of about 22,857 (208)

Prevalence and Clinical Attributes of Congenital Microcephaly - New York, 2013-2015. [PDF]

MMWR Morb Mortal Wkly Rep, 2017
Graham KA, Fox DJ, Talati A, Pantea C, Brady L, Carter SL, Friedenberg E, Vora NM, Browne ML, Lee CT.   +9 more
europepmc   +1 more source

Escape From X‐Chromosome Inactivation Enables Survival in a Male With an Unbalanced X;19 Translocation

Annals of the New York Academy of Sciences, Volume 1561, Issue 1, July 2026.
This study examines a rare inherited unbalanced X;19 translocation in a male proband and shows that silencing of the translocated chromosome 19 segment is incomplete. Allele‐specific expression analysis indicates that several informative chromosome 19 genes escape silencing, helping preserve essential autosomal dosage and likely contributing to ...
Onur Emre Onat, Tayfun Ozcelik
wiley   +1 more source

Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive. [PDF]

Am J Hum Genet, 2019
Edvardson S, Nicolae CM, Noh GJ, Burton JE, Punzi G, Shaag A, Bischetsrieder J, De Grassi A, Pierri CL, Elpeleg O, Moldovan GL.   +10 more
europepmc   +1 more source

WWOX Mutation as a Rare Cause of Neonatal‐Infantile Parkinsonism Mimicking a Neurotransmitter Disorder: A Case Report

Journal of Paediatrics and Child Health, Volume 62, Issue 7, Page 1273-1277, July 2026.
Ozge Serce Pehlevan, Gizem Gider Yaman, Anıl Gok, Leman Tekin Orgun   +3 more
wiley   +1 more source

High Background Congenital Microcephaly in Rural Guatemala: Implications for Neonatal Congenital Zika Virus Infection Screening. [PDF]

Glob Health Sci Pract, 2017
Rick AM, Domek G, Cunningham M, Olson D, Lamb MM, Jimenez-Zambrano A, Heinrichs G, Berman S, Asturias EJ.   +8 more
europepmc   +1 more source

Cortical auditory response and language development in children with microcephaly by Zika virus. [PDF]

Braz J Otorhinolaryngol
Figueiredo Frizzo AC, Lira de Andrade KC, Rombola IT, Teixeira da Costa KV, Baisi Chagas EF, de Lemos Menezes P.   +5 more
europepmc   +1 more source

Ten Years of Congenital Zika Syndrome: From Outbreak to a Decade of Clinical, Therapeutic, and Preventive Advances in a Tropical Disease Context. [PDF]

Trop Med Infect Dis
Pessoa FS.
europepmc   +1 more source

Congenital microcephaly: Case definition & guidelines for data collection, analysis, and presentation of safety data after maternal immunisation. [PDF]

Vaccine, 2017
DeSilva M, Munoz FM, Sell E, Marshall H, Tse Kawai A, Kachikis A, Heath P, Klein NP, Oleske JM, Jehan F, Spiegel H, Nesin M, Tagbo BN, Shrestha A, Cutland CL, Eckert LO, Kochhar S, Bardají A, Brighton Collaboration Congenital Microcephaly Working Group.   +18 more
europepmc   +1 more source

Discordant imaging findings in dizygotic twins with known exposure to maternal ZIKV infection during initial stages of pregnancy. [PDF]

IDCases
Adami-Teppa F, Marquez M, Escalona-Rodriguez MA, Blohm GM, Ascanio LC, Sordillo E, Lednikcy JA, Paniz-Mondolfi AE.   +7 more
europepmc   +1 more source

GAIA Congenital Microcephaly Level of Diagnostic Certainty [PDF]

, 2020
openaire   +1 more source