Results 11 to 20 of about 88,636 (324)

Congenital microcephaly [PDF]

, 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   +3 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

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

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

Microcephaly epidemic related to the Zika virus and living conditions in Recife, Northeast Brazil

BMC Public Health, 2018
Background Starting in August 2015, there was an increase in the number of cases of neonatal microcephaly in Northeast Brazil. These findings were identified as being an epidemic of microcephaly related to Zika virus (ZIKV) infection.
Wayner Vieira de Souza, Maria de Fátima Pessoa Militão de Albuquerque, Enrique Vazquez, Luciana Caroline Albuquerque Bezerra, Antonio da Cruz Gouveia Mendes, Tereza Maciel Lyra, Thalia Velho Barreto de Araujo, André Luiz Sá de Oliveira, Maria Cynthia Braga, Ricardo Arraes de Alencar Ximenes, Demócrito de Barros Miranda-Filho, Amanda Priscila de Santana Cabral Silva, Laura Rodrigues, Celina Maria Turchi Martelli   +13 more
doaj   +2 more sources

Congenital microcephaly unrelated to flavivirus exposure in coastal Kenya [version 1; peer review: 2 approved, 1 approved with reservations]

Wellcome Open Research, 2019
Background: Zika virus (ZIKV) was first discovered in East Africa in 1947.  ZIKV has caused microcephaly in the Americas, but it is not known whether ZIKV is a cause of microcephaly in East Africa.
Hellen C. Barsosio, John N. Gitonga, Henry K. Karanja, Doris K. Nyamwaya, Donwilliams O. Omuoyo, Everlyn Kamau, Mainga M. Hamaluba, Joyce U. Nyiro, Barnes S. Kitsao, Amek Nyaguara, Stella Mwakio, Charles R. Newton, Rosemary Sang, Daniel Wright, Eduard J. Sanders, Anna C. Seale, Charles N. Agoti, James A. Berkley, Philip Bejon, George M. Warimwe   +19 more
doaj   +2 more sources

Autosomal Recessive Primary Microcephaly: Not Just a Small Brain

Frontiers in Cell and Developmental Biology, 2022
Microcephaly or reduced head circumference results from a multitude of abnormal developmental processes affecting brain growth and/or leading to brain atrophy.
S. Zaqout, A. Kaindl
semanticscholar   +1 more source

Cerebral organoids containing an AUTS2 missense variant model microcephaly

medRxiv, 2022
Variants in the AUTS2 gene are associated with a broad spectrum of neurological conditions characterized by intellectual disability, microcephaly, and congenital brain malformations.
Summer R. Fair, Wesley Schwind, Dominic Julian, Alecia Biel, Gongbo Guo, Ryan Rutherford, Swetha Ramadesikan, Jesse J. Westfall, K. Miller, M. Kararoudi, S. Hickey, T. M. Mosher, K. McBride, Reid Neinast, James R. Fitch, Dean-Yao Lee, Peter White, R. Wilson, T. Bedrosian, D. Koboldt, Mark E. Hester   +20 more
semanticscholar   +1 more source

Multifaceted Microcephaly-Related Gene MCPH1

Cells, 2022
MCPH1, or BRIT1, is often mutated in human primary microcephaly type 1, a neurodevelopmental disorder characterized by a smaller brain size at birth, due to its dysfunction in regulating the proliferation and self-renewal of neuroprogenitor cells. In the
Martina Kristofova, A. Ori, Zhao-Qi Wang
semanticscholar   +1 more source

Development of an adverse outcome pathway for radiation-induced microcephaly via expert consultation and machine learning

International Journal of Radiation Biology, 2022
Background Brain development during embryogenesis and in early postnatal life is particularly complex and involves the interplay of many cellular processes and molecular mechanisms, making it extremely vulnerable to exogenous insults, including ionizing ...
T. Jaylet, R. Quintens, M. A. Benotmane, Jukka Luukkonen, I. B. Tanaka, C. Ibanez, Christelle Durand, M. Sachana, O. Azimzadeh, C. Adam-Guillermin, K. Tollefsen, Olivier Laurent, Karine Audouze, O. Armant   +13 more
semanticscholar   +1 more source