Results 1 to 10 of about 90,161 (348)

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 ...
Agha, Ahmad, Arai, Banin, Bettencourt-Dias, Bicknell, Bicknell, Bolanos-Garcia, Bond, Bongers, Buchman, Caldecott, Caldecott, Capo-Chichi, Carney, Casey, Cimprich, Cizmecioglu, Croteau, Dehay, Dehay, Deriano, Domchek, Fish, Gatz, Gellert, Genin, Gilmore, Gineau, Gorlin, Griffith, Gruber, Guernsey, Han, Hanks, Heldin, Hemerly, Herzog, Heyer, Hickson, Hinchcliffe, Hughes, Issa, Jaglin, Jamieson, Kang, Kee, Kerzendorfer, Kim, Kiyomitsu, Kiyomitsu, Koch, Kumagai, Kuo, Lancaster, Lavin, Lee, Lee, Lee, Lobrich, Loveday, Loveday, Mahmood, Maréchal, Matsumoto, Matsuoka, Matsuura, Meindl, Mimitou, Mirzaa, Miyoshi, Miyoshi, Moldovan, Morris-Rosendahl, Moshous, Moynahan, Murga, Murray, Musacchio, Mühlhans, Noguchi, Novorol, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, Ogi, Orii, Pilaz, Poirier, Ponting, Qvist, Rakic, Rauch, Riballo, Romaniello, Roos, Rudner, Schneider, Shah, Shaheen, Shaheen, Shamseldin, Shen, Shiloh, Sir, Sirbu, Sokka, Spalding, Spassky, Stewart, Stiff, Stokes, Symington, Tan, Thornton, van der Burg, van der Lelij, Varon, Verloes, Walczak, Waltes, Weedon, Weinfeld, Woodbine, Woods, Wu, Zimmerman   +129 more
core   +6 more sources

Microcephaly [PDF]

Children, 2017
Microcephaly is defined as a head circumference more than two standard deviations below the mean for gender and age. Congenital microcephaly is present at birth, whereas postnatal microcephaly occurs later in life.
Emily Hanzlik, Joseph Gigante
doaj   +7 more sources

Cerebral organoids model human brain development and microcephaly

Nature, 2013
The complexity of the human brain has made it difficult to study many brain disorders in model organisms, highlighting the need for an in vitro model of human brain development.
Madeline A Lancaster, Carol-Anne Martin, Louise S Bicknell   +2 more
exaly   +2 more sources

In situ immune response and mechanisms of cell damage in central nervous system of fatal cases microcephaly by Zika virus

Scientific Reports, 2018
Zika virus (ZIKV) has recently caused a pandemic disease, and many cases of ZIKV infection in pregnant women resulted in abortion, stillbirth, deaths and congenital defects including microcephaly, which now has been proposed as ZIKV congenital syndrome ...
Arnaldo Jorge Martins Filho, Valéria L Carvalho, Pedro Fernando da Costa Vasconcelos   +2 more
exaly   +2 more sources

Genetic and clinical features of microcephaly in a prenatal cohort [PDF]

BMC Pregnancy and Childbirth
Background Fetal microcephaly, defined as a small head circumference in utero or at birth, is a rare but clinically significant condition that may be associated with an increased risk of neurodevelopmental delay and impairment. However, the comprehensive
Yi Zhang, Huibing Liu, Ailan Yin, Xin Jiang, Lijun Tang, Siping Liu, Xia Qin, Mei Zhong, Chantao Huang, Bei Jia   +9 more
doaj   +2 more sources

Genomic Analysis of Korean Patient With Microcephaly

Frontiers in Genetics, 2021
Microcephaly is a prevalent phenotype in patients with neurodevelopmental problems, often with genetic causes. We comprehensively investigated the clinical phenotypes and genetic background of microcephaly in 40 Korean patients.
Jiwon Lee, Jong Eun Park, Chung Lee, Ah Reum Kim, Byung Joon Kim, Woong-Yang Park, Chang-Seok Ki, Jeehun Lee   +7 more
doaj   +2 more sources

Modeling microcephaly with cerebral organoids reveals a WDR62–CEP170–KIF2A pathway promoting cilium disassembly in neural progenitors

Nature Communications, 2019
Primary microcephaly is caused by mutations in genes encoding centrosomal proteins including WDR62 and KIF2A. However, mechanisms underlying human microcephaly remain elusive. By creating mutant mice and human cerebral organoids, here we found that WDR62
Mei Yang, Stephanie Herrlinger, Qiang Shao   +2 more
exaly   +2 more sources

The association between Zika virus infection and microcephaly in Brazil 2015-2017: An observational analysis of over 4 million births.

PLoS Medicine, 2019
BACKGROUND:In 2015, high rates of microcephaly were reported in Northeast Brazil following the first South American Zika virus (ZIKV) outbreak. Reported microcephaly rates in other Zika-affected areas were significantly lower, suggesting alternate causes
Oliver J Brady, Aaron Osgood-Zimmerman, Nicholas J Kassebaum, Sarah E Ray, Valdelaine E M de Araújo, Aglaêr A da Nóbrega, Livia C V Frutuoso, Roberto C R Lecca, Antony Stevens, Bruno Zoca de Oliveira, José M de Lima, Isaac I Bogoch, Philippe Mayaud, Thomas Jaenisch, Ali H Mokdad, Christopher J L Murray, Simon I Hay, Robert C Reiner, Fatima Marinho   +18 more
doaj   +2 more sources

ETIOLOGY, DIAGNOSIS, AND MANAGEMENT OF CHILDHOOD MICROCEPHALY: A SINGLE-CENTER RETROSPECTIVE STUDY

Malang Neurology Journal, 2022
Background: Microcephaly is a condition that causes a reduction in brain volume as well as cognitive and motor impairments. It can be seen alone or in conjunction with a variety of genetic disorders and environmental factors.
Deniz Güven, Didem Ardıçlı, Dilek Sarıcı   +2 more
doaj   +3 more sources

Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly

Nature Communications, 2020
Asparaginyl-tRNA synthetase1 (NARS1) is a member of the ubiquitously expressed cytoplasmic Class IIa family of tRNA synthetases required for protein translation.
Lu Wang, Zhen Li, Marisa I Mendes
exaly   +2 more sources