Results 11 to 20 of about 22,198 (205)

Congenital microcephaly‐linked CDK5RAP2 affects eye development [PDF]

Annals of Human Genetics, 2019
AbstractBiallelic mutations in the cyclin‐dependent kinase 5 regulatory subunit‐associated protein 2 gene CDK5RAP2 cause autosomal recessive primary microcephaly type 3 (MCPH3). MCPH is characterized by intellectual disability and microcephaly at birth, classically without further organ involvement.
Sami Zaqout, Ethiraj Ravindran, Gisela Stoltenburg‐Didinger, Angela M. Kaindl   +3 more
openaire   +7 more sources

Prevalence of microcephaly: the Latin American Network of Congenital Malformations 2010–2017

BMJ Paediatrics Open, 2021
Objective The Latin American Network of Congenital Malformations: ReLAMC was established in 2017 to provide accurate congenital anomaly surveillance. This study used data from ReLAMC registries to quantify the prevalence of microcephaly from 2010 to 2017
Helen Dolk, Boris Groisman, Joan Morris, Rosa Pardo, Elizabeth Limb, Iêda M Orioli, Adriana Benavides-Lara, María de la Paz Barboza-Arguello, Maria Aurora Canessa Tapia, Giovanny Vinícius Araújo de França, Jorge Holguin, Paula Margarita Hurtado-Villa, Marisol Ibarra Ramirez, Cecilia Mellado, Dania Maria Pastora Bucardo, Catherin Rodríguez, Ignacio Zarante   +16 more
doaj   +1 more source

Congenital microcephaly [PDF]

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2014
The underlying etiologies of genetic congenital microcephaly are complex and multifactorial. Recently, with the exponential growth in the identification and characterization of novel genetic causes of congenital microcephaly, there has been a consolidation and emergence of certain themes concerning underlying pathomechanisms.
Alcantara, Diana, O'Driscoll, Mark
openaire   +2 more sources

Congenital Zika Infection and the Risk of Neurodevelopmental, Neurological, and Urinary Track Disorders in Early Childhood. A Systematic Review

Viruses, 2021
It was late 2015 when Northeast Brazil noticed a worrying increase in neonates born with microcephaly and other congenital malformations. These abnormalities, characterized by an abnormally small head and often neurological impairment and later termed ...
Evangelia Antoniou, Eirini Orovou, Paraskevi Eva Andronikidi, Christos Orovas, Nikolaos Rigas, Ermioni Palaska, Angeliki Sarella, Georgios Iatrakis, Chrysa Voyiatzaki   +8 more
doaj   +1 more source

Microcephaly and Associated Risk Factors in Newborns: A Systematic Review and Meta-Analysis Study

Tropical Medicine and Infectious Disease, 2022
Congenital microcephaly is caused by a multitude of drivers affecting maternal–fetal health during pregnancy. It is a rare outcome in high-income industrial countries where microcephaly rates are in the range of 0.3–0.9 per 1000 newborns.
Natália de L. Melo, Danilo F. de Sousa, Gabriel Z. Laporta   +2 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

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

Congenital Genetic Microcephaly: Clinical Diagnostic Approach [PDF]

Journal of Pediatric Neurology, 2019
AbstractMicrocephaly is an important neurological sign defined by a cranial circumference < 2 standard deviations or < 3 standard deviations in the severe form compared with age- and gender-matched children. Microcephaly is classified as congenital (prenatal) and postnatal. In general, microcephaly may result from an insult, including infections,
Marino, Silvia, Pavone, Piero, Marino, Lidia, Rapisarda, Filippo Andrea Salvatore, Falsaperla, Raffaele   +4 more
openaire   +2 more sources

Chloroquine, a FDA-approved Drug, Prevents Zika Virus Infection and its Associated Congenital Microcephaly in Mice [PDF]

EBioMedicine, 2017
Chunfeng Li, Xing-Liang Zhu, Natalie Quanquin   +2 more
exaly   +2 more sources