Results 131 to 140 of about 290,347 (229)

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas–Mexico Border

Clinical Genetics, Volume 110, Issue 5, Page 627-636, November 2026.
Project GIVE provided evaluations and genome sequencing to 23 children with hearing loss along the Texas–Mexico border. Seventy percent received a molecular diagnosis and 56% of those diagnosed had changes to medical management. In this region, underdiagnosis of genetic hearing loss is due to care barriers rather than lower genetic burden.
Desiree Lanehart, Michelle Gray, Roberta Sierra, Camille Maldonado, Daniel Brooks, Hongzheng Dai, Aaly Rahimtoola, Sandy Magallan, Sarah Rodriguez, Jose Gamez, Pattie Rosenlund, Surya N. Mulukutla, Alberto Allegre, Lori Berry, Brendan Lee, Daryl A. Scott, Blake Vuocolo, Seema R. Lalani   +17 more
wiley   +1 more source

Congenital Microcephaly [PDF]

, 2020
openaire   +1 more source

Congenital Zika Virus Infection: Beyond Neonatal Microcephaly

, 2016
Recent studies have reported an increase in the number of fetuses and neonates with microcephaly whose mothers were infected with the Zika virus (ZIKV) during pregnancy.
Nogueira R.M.R., Jr., Dos Santos M.P., Campanati L., De Oliveira Melo F., Tanuri A., Silveira P.P., Arruda M.B., Gonzaga C.E., Moura S.R.M., Amorim M.M.R., Voloch C.M., Brindeiro R.M., Aguiar R.S., Higa L., Batista A.G.M., Ribeiro S.T.C., Chimelli L., Szejnfeld J., Sampaio V.V., Filippis A.M.B., Delvechio R., Ximenes R., Rabello L.P., De Oliveira-Szejnfeld P.S., Tovar-Moll F., Malinger G., De Oliveira Melo A.S., Ferreira O.C., Ferreira T., Santos, Mayra Pereira dos, Ribeiro, Suelem Taís Clementino, Medeiros Batista, Alba Gean, Oliveira-Szejnfeld, Patricia Soares de [UNIFESP], Sampaio, Virginia Vilar, de Oliveira Melo, Adriana Suely, Ferreira, Thales, Filippis, Ana Maria Bispo, Ximenes, Renato, Ramos Amorim, Melania Maria, Clementino Ribeiro, Suelem Tais, Higa, Luiza, Martins Moura, Sarah Rogeria, Malinger, Gustavo, Nogueira, Rita M. R., Szejnfeld, Patricia Soares de Oliveira, Delvechio, Rodrigo, dos Santos, Mayra Pereira, Batista, Alba Gean Medeiros, Aguiar, Renato Santana, Szejnfeld, Jacob [UNIFESP], Voloch, Carolina Moreira, Tovar-Moll, Fernanda, Silveira, Paola Paz, Melo, Fabiana de Oliveira, Amorim, Melania Maria Ramos, Moura, Sarah Rogéria Martins, Ferreira, Orlando C., Gonzaga, Clarissa Emanuelle, Chimelli, Leila, Tanuri, Amilcar, Melo, Adriana Suely de Oliveira, Ferreira, Orlando C., Jr., Arruda, Monica B., Campanati, Loraine, Rabello, Luciana Portela, Brindeiro, Rodrigo M., Bispo Filippis, Ana Maria, Szejnfeld, Jacob   +68 more
core   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2331-2337, October 2026.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Associations of DNA Methylation Mortality Risk Markers with Congenital Microcephaly from Zika Virus: A Study of Brazilian Children Less than 4 Years of Age. [PDF]

J Trop Pediatr, 2021
Nwanaji-Enwerem JC, Laan LV, Avakame EF, Scott KA, Burris HH, Cardenas A.   +5 more
europepmc   +1 more source

Microcephaly - congenital cytomegalovirus infection

, 2021
openaire   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2350-2356, October 2026.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 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

Infectious causes of microcephaly: epidemiology, pathogenesis, diagnosis, and management

, 2018
Microcephaly is an important sign of neurological malformation and a predictor of future disability. The 2015–16 outbreak of Zika virus and congenital Zika infection brought the world's attention to links between Zika infection and microcephaly. However,
Groce, N, Bamford, A, Breuer, J, Broad, J, Copp, A, Ferreira, MU, Rosch, RE, Rodrigues, LC, Abubakar, I, Cardoso, MA, Devakumar, D, Alexandre, P   +11 more
core  

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, Volume 200, Issue 10, Page 2289-2308, October 2026.
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