Results 31 to 40 of about 290,347 (229)

The clinical diagnostic utility of array CGH in children with syndromic microcephaly

Annals of Indian Academy of Neurology, 2022
Background: A prospective study using array CGH in children with Syndromic microcephaly from a tertiary pediatric healthcare centre in India. Aim: To identify the copy number variations causative of microcephaly detected through chromosomal array CGH ...
Manisha Goyal, Mohammed Faruq, Ashok Gupta, Divya Shrivastava, Uzma Shamim   +4 more
doaj   +1 more source

Birth Defects and Long- Term Neurodevelopmental Abnormalities in Infants Born During the Zika Virus Epidemic in the Dominican Republic

Annals of Global Health, 2021
Background:When acquired during pregnancy, Zika virus (ZIKV) infection can cause substantial fetal morbidity, however, little is known about the long-term neurodevelopmental abnormalities of infants with congenital ZIKV exposure without microcephaly at ...
Raquel Pimentel, Shaveta Khosla, Josefina Rondon, Farah Pena, Gwyneth Sullivan, Martha Perez, Supriya D. Mehta, Maximo O. Brito   +7 more
doaj   +1 more source

A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family. [PDF]

, 2012
Microcephaly–lymphedema–chorioretinal dysplasia (MLCRD) syndrome is a rare syndrome that was first described in 1992. Characteristic craniofacial features include severe microcephaly, upslanting palpebral fissures, prominent ears, a broad nose, and a ...
Ostergaard, P, Kantekin, E, Ozkinay, F, Özkınay F., Kantekin, Esin, Ozturk T., Jeffery, S, Fusun Atlihan, Jeffery S., Hazan F., Atlihan, Fusun, Esin Kantekin, ÖZTÜRK, ARİF TAYLAN, Ostergaard P., Steve Jeffery, Ozturk, T, Jeffery, Steve, Kantekin E., Hazan, F, Pia Ostergaard, Taylan Ozturk, Ozkinay, Ferda, Ostergaard, Pia, Filiz Hazan, Atlihan F., Atlihan, F, Ferda Ozkinay, Hazan, Filiz   +27 more
core   +1 more source

A Case of Microcephaly with Congenital Retinal Detachment

Perinatology, 2021
Microcephaly can occur with autosomal dominant or autosomal recessive inherited pattern in a family, but more commonly it is a form of many syndromes that lead to intellectual impairment. Several reports of ocular anomalies accompanied with microcephaly vary from microphthalmia, nystagmus, cataracts, falciform retinal folds, retinal dysplasia, optic ...
Donghoon Joo, Mun Hui Jeong, Seong Hee Jeong, Narae Lee, Mi Hye Bae, Young Mi Han, Kyung Hee Park, Shin Yun Byun   +7 more
openaire   +1 more source

The Frequency of Cytomegalovirus and Toxoplasma Among Microcephalic and Hydrocephalic Neonates Admitted to Pediatric Hospital in Bandar Abbas [PDF]

Disease and Diagnosis, 2020
Background: Congenital infection is a primary cause of malformations during infancy including hydrocephaly and microcephaly. In addition, cytomegalovirus and toxoplasma are the two prevalent causes of congenital infections.
Maryam Rostamian, Seyyed Hossein Saadat, Mohammad Mehdi Mashayekhi, Hosein Hamadiyan, Mehran Ahmadi   +4 more
doaj   +1 more source

Phenotypic Differences between Asian and African Lineage Zika Viruses in Human Neural Progenitor Cells

mSphere, 2017
Recent Zika virus (ZIKV) infections have been associated with a range of neurological complications, in particular congenital microcephaly. Human neural progenitor cells (hNPCs) are thought to play an important role in the pathogenesis of microcephaly ...
Fatih Anfasa, Jurre Y. Siegers, Mark van der Kroeg, Noreen Mumtaz, V. Stalin Raj, Femke M. S. de Vrij, W. Widagdo, Gülsah Gabriel, Sara Salinas, Yannick Simonin, Chantal Reusken, Steven A. Kushner, Marion P. G. Koopmans, Bart Haagmans, Byron E. E. Martina, Debby van Riel   +15 more
doaj   +1 more source

‐related spliceosomopathy phenotype characterized by microcephaly and congenital atrichia

, 2023
Variants in genes encoding core components of the spliceosomes are associated with craniofacial syndromes, collectively called craniofacial spliceosomopathies.
M. Lypka, Paolillo, Vitoria, Amudhavalli, Shivarajan Manickavasagam, Kussman, Jennifer, A. J. Nopper, V. Paolillo, Nopper, Amy J, J. Kussmann, Caitlin Lawson, Patterson, Melanie, Saunders, Carol J, Lypka, Michael, Carol Saunders, Lawson, Caitlin E, Shivarajan M. Amudhavalli, Melanie Patterson   +15 more
core   +1 more source

Clinical aspects of congenital microcephaly syndrome by Zika virus in a rehabilitation center for patients with microcephaly [PDF]

Revista da Associação Médica Brasileira, 2019
SUMMARY OBJECTIVE In this study, we intend to identify the prevalence of clinical variables in children with microcephaly. METHODS This is a cross-sectional and observational study with data collected from medical records of patients admitted to the microcephaly outpatient clinic of a referral center in Teresina-PI.
Kelson James Almeida, Augusto César Beserra Martins, Isadora Costa Coelho Gayoso e Almendra, Gabriel Medina Sobreira de Meneses, Thales Daniel de Oliveira Sampaio, José da Cruz Moura Campêlo, Edson Bor-Seng-Shu   +6 more
openaire   +4 more sources

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

, 2017
Need for developing case definitions and guidelines for data collection, analysis, and presentation for congenital microcephaly as an adverse event following maternal immunisation Congenital microcephaly, also referred to as primary microcephaly due ...
Kachikis, A, Kachikis, Alisa, Muñoz, Flor M., Oleske, James M., Cutland, C.L. (Clare L.), Linda O. Eckert, Munoz, F.M. (Flor M.), James M. Oleske, Anju Shrestha, Paul Heath, Kachikis, A. (Alisa), DeSilva, M, Munoz, F M, Azucena Bardají, Bardají, Azucena, Marshall, H, Kawai, AT, Shrestha, A. (Anju), Hans Spiegel, Cutland, CL, Heath, Paul T., Shrestha, A, Eckert, Linda O., Nesin, M. (Mirjana), Kochhar, Sonali, Cutland, Clare L., Kochhar, S, Bardají, A, Alison Tse Kawai, Tse Kawai, A. (Alison), Oleske, J.M. (James M.), Klein, Nicola P., Tagbo, Beckie N., ), Helen Marshall, Spiegel, H, Nesin, M, Sonali Kochhar, Bardají, A. (Azucena), Oleske, JM, Jehan, Fyezah, Sell, E, Sell, E. (Erick), Heath, P, Erick Sell, Nicola P. Klein, Malini DeSilva, DeSilva, Malini, Nesin, Mirjana, Heath, P. (Paul), Sell, Erick, Spiegel, Hans, Eckert, L.O. (Linda O.), Tagbo, BN, Jehan, F, Beckie N. Tagbo, Brighton Collaboration Congenital Microcephaly Working Group, Alisa Kachikis, Tagbo, B.N. (Beckie N.), Tse Kawai, A, Eckert, LO, Mirjana Nesin, Tse Kawai, Alison Tse, Shrestha, Anju, Marshall, Helen, Klein, N.P. (Nicola P.), Munoz, FM, Clare L. Cutland, Marshall, H. (Helen), Klein, NP, Flor M. Munoz, Fyezah Jehan, Spiegel, H. (Hans), Jehan, F. (Fyezah), DeSilva, M. (Malini)   +74 more
core   +1 more source

Linear regression, factors associated with Bayley-III raw scores in children with microcephaly associated with the Congenital Zika Syndrome.

, 2021
Linear regression, factors associated with Bayley-III raw scores in children with microcephaly associated with the Congenital Zika Syndrome.
Claudia Gambrah (10105005), Carina Vieira (10105026), Adriana Matos (11436815), Rubens Belfort (7819163), Juan P. Aguilar Ticona (10104996), Millani Lessa (11210367), Ana Borja (10105014), Luis Carlos de Souza Ferreira (6264359), Daiana de Oliveira (5165669), Jamary Oliveira-Filho (3148221), Federico Costa (569693), Nivison Nery Jr. (10104999), Verena Ballalai (10105023), Denicar Lina Nascimento Fabris Maeda (6271115), Bruno de Paula Freitas (10105008), Albert I. Ko (90448), Mitermayer G. Reis (7367444), Danielle Bastos Araujo (10377608), Erica A. Mendes (11436818), Elsio A. Wunder Jr. (10105020), Camila Pereira Soares (9723473), Jaqueline S. Cruz (11210373), Edison L. Durigon (11210394), Antonio R. P. Almeida (10105029), Simon Doss-Gollin (10983879), Valmir Rastely-Júnior (11210364), Danielle B. Oliveira (11210388)   +26 more
core   +1 more source