Results 71 to 80 of about 37,506 (300)

Compound heterozygous loss‐of‐function variants in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome

Molecular Genetics &Genomic Medicine, Volume 11, Issue 1, January 2023., 2023
Trio‐based whole‐exome sequencing (WES) and Sanger sequencing identified a novel splicing mutation c.431‐2A>G and a heterozygous truncating mutation c.1359_1361del in BRAT1 in the proband. In addition, our research demonstrated the intronic mutation could lead to aberrant mRNA splicing and further contributed to a better understanding and establishment
Shan Li, Shunan Yu, Yanzhuo Zhang, Ying Wang, Xu Jiang, Chengai Wu   +5 more
wiley   +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, EarlyView.
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

Structures and functions of cilia during vertebrate embryo development

Molecular Reproduction and Development, Volume 89, Issue 12, Page 579-596, December 2022., 2022
Abstract Cilia are hair‐like structures that project from the surface of cells. In vertebrates, most cells have an immotile primary cilium that mediates cell signaling, and some specialized cells assemble one or multiple cilia that are motile and beat synchronously to move fluids in one direction.
Jeffrey D. Amack
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

The Case for Pyriproxyfen as a Potential Cause for Microcephaly; From Biology to Epidemiology [PDF]

arXiv, 2017
The Zika virus has been found in individual cases but has not been confirmed as the cause of in the large number of cases of microcephaly in Brazil in 2015-6. Indeed, disparities between the incidence of Zika and microcephaly across geographic locations has led to questions about the virus's role.
arxiv  

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

American Journal of Medical Genetics Part A, EarlyView.
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

Fetal cerebral ventriculomegaly: What do we tell the prospective parents?

Prenatal Diagnosis, Volume 42, Issue 13, Page 1674-1681, December 2022., 2022
Abstract Fetal cerebral ventriculomegaly is a relatively common finding, observed during approximately 1% of obstetric ultrasounds. In the second and third trimester, mild (≥10 mm) and severe ventriculomegaly (≥15 mm) are defined according to the measurement of distal lateral ventricles that is included in the routine sonographic examination of central
Veronica Giorgione, Karina Krajden Haratz, Shlomi Constantini, Roee Birnbaum, Gustavo Malinger   +4 more
wiley   +1 more source

A Possible Link Between Pyriproxyfen and Microcephaly [PDF]

arXiv, 2016
The Zika virus is the primary suspect in the large increase in microcephaly cases in 2015-6 in Brazil, however its role is unconfirmed despite individual cases of viral infections found in neural tissue. Here we consider the alternative that the insecticide pyriproxyfen, used in Brazilian drinking water for mosquito control, may actually be the cause ...
arxiv  

International Expert Opinion on Standard of Care for Patients With Schinzel‐Giedion Syndrome: A Modified Delphi Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Schinzel‐Giedion Syndrome (SGS) is an ultra‐rare, multisystem, genetic developmental disorder caused by gain‐of‐function pathogenic variants in the SETBP1 gene. No standard of care (SoC) recommendations currently exist. To assess expert opinion on SoC for individuals with SGS using a modified Delphi method.
Jessica Duis, Laura Agresta, William E. Bennett Jr, Henry Chambers, Antonia Clarke, Charlie Fairhurst, Julie Hoover‐Fong, Feilim Murphy, Garey Noritz, Scott Schwantes, Michael Shreve, Kabelo Thusang, Darcy Weidemann, Rebecca Beale, Aditi Mehta, Andrew Wilhelmsen, Nuala Summerfield   +16 more
wiley   +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