Results 71 to 80 of about 49,640 (282)

Prevalence of Antibodies to Zika Virus in Mothers from Hawaii Who Delivered Babies with and without Microcephaly between 2009-2012.

PLoS Neglected Tropical Diseases, 2016
Zika virus (ZIKV) is an emerging mosquito-borne pathogen. ZIKV infection is linked to the development of severe fetal abnormalities that include spontaneous abortion, stillbirth, hydranencephaly, and microcephaly. ZIKV outbreaks have been recorded in the
Mukesh Kumar, Lauren Ching, Joshua Astern, Eunjung Lim, Alexander J Stokes, Marian Melish, Vivek R Nerurkar   +6 more
doaj   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review

, 2023
Autosomal recessive microcephaly and chorioretinopathy-1 (MCCRP1) is a rare Mendelian disorder resulting from biallelic loss of function variants in Tubulin-Gamma Complex Associated Protein 6 (TUBGCP6, MIM#610053).
Zhu, Ying, Kimberly Glaser, Wentzensen, Ingrid MM, Santos, Francis Jeshira Reynoso, Thomas-Wilson, Amanda, Vink, Rebecca, Alesky Caffo, Lindsay B. Henderson, Alkhunaizi, Ebba, Chitayat, David, David Chitayat, Ying Zhu, Susan Blaser, Ebba Alkhunaizi, Costa, Fabricio da Silva, Blaser, Susan, Fabricio da Silva Costa, Laura Russell, Henderson, Lindsay BB, Elaine Maria Pereira, Glaser, Kimberly, Di Corleto, Ellen, John P. Schacht, Rebecca Vink, Schacht, John PP, Tony Roscioli, Francis Jeshira Reynoso Santos, Ingrid M. Wentzensen, Michael F. Buckley, Mythily Ganapathi, Ellen Di Corleto, Caffo, Alesky, Zhang, Futao, Amanda Thomas‐Wilson, Futao Zhang, et al.   +35 more
core   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Geospatial modeling of microcephaly and zika virus spread patterns in Brazil.

PLoS ONE, 2019
Microcephaly and Zika Virus infection (ZIKV) were declared Public Health Emergencies of International Concern by the World Health Organization in 2016. Brazil was considered the epicenter of the outbreak.
Pedro Amaral, Lucas Resende de Carvalho, Thiago Augusto Hernandes Rocha, Núbia Cristina da Silva, João Ricardo Nickenig Vissoci   +4 more
doaj   +1 more source

Causes of Microcephaly in the Zika Era in Argentina: A Retrospective Study

Global Pediatric Health, 2021
There are gaps in understanding the causes and consequences of microcephaly. This paper describes the epidemiological characteristics, clinical presentations, and etiologies of children presenting microcephaly during the Zika outbreak in Argentina.
Griselda Berberian MD, Rosa Bologna MD, María Guadalupe Pérez MD, Andrea Mangano PhD, Marina Costa MSc, Silvana Calligaris MD, María Alejandra Morales MSc, Carlos Rugilo MD, Elisa Ruiz-Burga PhD, Claire Thorne PhD   +9 more
doaj   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Zika Virus Infection and Microcephaly

, 2016
A Task Force established by the Brazil Ministry of Health investigated the possible association of microcephaly with Zika virus infection during pregnancy and a registry for microcephaly cases among women suspected to have had Zika virus infection during
J. Gordon Millichap
core   +1 more source

Disease modelling of a human neurodevelopmental disorder using mouse embryonic stem cells [PDF]

, 2011
As cultured embryonic stem (ES) cells can be differentiated in neurons under well-defined conditions, they provide a unique opportunity to model and study diseases of the nervous system such as Rett syndrome.
Yazdani Shektaei, Morteza
core   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source