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About 6,348 results

ALLMedicine™ Microcephaly Center

Research & Reviews  2,228 results

NDE1-related disorders: A recurrent NDE1 pathogenic variant causing Lissencephaly 4 can...
https://doi.org/10.1002/ajmg.a.62508
American Journal of Medical Genetics. Part A; Bas H, Saylisoy S et. al.

Sep 26th, 2021 - NudE Neurodevelopment Protein 1 (NDE1) gene encodes a protein required for microtubule organization, mitosis, and neuronal migration. Biallelic pathogenic variants of NDE1 gene are associated with structural central nervous system abnormalities, s...

CTNNB1-related neurodevelopmental disorder in a Chinese population: A case series.
https://doi.org/10.1002/ajmg.a.62504
American Journal of Medical Genetics. Part A; Ho S, Tsang MH et. al.

Sep 25th, 2021 - CTNNB1-related disorder is an autosomal dominant neurodevelopmental disorder characterized by a variable degree of cognitive impairment, microcephaly, truncal hypotonia, peripheral spasticity, visual defects, and dysmorphic features. In this case ...

Microcephaly in Australian infants: A retrospective audit.
https://doi.org/10.1111/jpc.15739
Journal of Paediatrics and Child Health; Nunez C, Morris A et. al.

Sep 24th, 2021 - To describe clinical characteristics, outcomes and causes of microcephaly in children whose condition was identified within the first year of life. Retrospective review of medical records of microcephalic children born between 2008 and 2018 and ad...

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.
https://doi.org/10.1038/s41467-021-25515-5 10.1038/nrneurol.2015.172 10.1016/j.ymgme.2007.10.004 10.1007/s10545-012-9506-x 10.1212/WNL.0b013e3181e620ae 10.1016/j.drudis.2012.07.008 10.1212/01.WNL.0000059549.70717.80 10.1002/ana.24485 10.1016/j.ymgmr.2016.09.006 10.1006/mgme.2001.3273 10.1007/s10545-018-0169-0 10.2471/BLT.08.062554 10.1136/jech-2014-205387 10.1186/s13023-020-01379-8 10.1016/S0140-6736(85)91474-6 10.1093/brain/awq087 10.1016/j.ydbio.2014.12.025 10.1038/374643a0 10.1038/374640a0 10.1074/jbc.M110.159426 10.1016/j.metabol.2019.02.001 10.1074/jbc.M102237200 10.1086/501372 10.1016/j.febslet.2014.09.004 10.1093/brain/awv224 10.1016/j.nbd.2012.12.005 10.1074/jbc.M303986200 10.1186/s13023-016-0522-z 10.1002/ana.22685 10.1016/j.jns.2007.02.007 10.1016/j.niox.2011.04.004 10.1016/S0361-9230(99)00011-8 10.1523/JNEUROSCI.5698-08.2009 10.1073/pnas.1319863110 10.1016/j.febslet.2014.09.004 10.1002/jimd.12092 10.1038/s41598-017-15063-8 10.1258/acb.2012.012080 10.3109/09513590.2015.1017810 10.1001/archneurol.2012.574 10.1007/BF00716465 10.1007/BF01799380 10.1016/S1054-3589(08)60692-4 10.1086/321970 10.1038/gim.2017.1 10.1038/nrg.2017.116 10.1038/ng.499 10.1038/nature08250 10.1038/nrg3555 10.1007/BF01799342 10.1111/1552-6909.12298 10.1001/jama.2013.6235 10.1016/S0378-3782(02)00065-8 10.1186/1471-2431-13-59
Nature Communications; Kuseyri Hübschmann O, Horvath G et. al.

Sep 22nd, 2021 - Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting with movement disorders and global developmental delay. This study presents the results of the first standardized deep phenotyping approach and desc...

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Guidelines  4 results

No. 240-Cytomegalovirus Infection in Pregnancy.
https://doi.org/10.1016/j.jogc.2017.11.018
Journal of Obstetrics and Gynaecology Canada : JOGC = Jou... Yinon Y, Farine D et. al.

Feb 16th, 2018 - To review the principles of prenatal diagnosis of congenital cytomegalovirus (CMV) infection and to describe the outcomes of the affected pregnancies. Effective management of fetal infection following primary and secondary maternal CMV infection d...

Congenital microcephaly: Case definition & guidelines for data collection, analysis, an...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5710988
Vaccine DeSilva M, Munoz FM et. al.

Nov 19th, 2017 - Congenital microcephaly: Case definition & guidelines for data collection, analysis, and presentation of safety data after maternal immunisation.|2017|DeSilva M,Munoz FM,Sell E,Marshall H,Tse Kawai A,|standards,standards,epidemiology,adverse effects,

Toxoplasmosis in pregnancy: prevention, screening, and treatment.
https://www.ncbi.nlm.nih.gov/pubmed/23343802
Journal of Obstetrics and Gynaecology Canada : JOGC = Jou... Paquet C, Yudin MH et. al.

Jan 25th, 2013 - One of the major consequences of pregnant women becoming infected by Toxoplasma gondii is vertical transmission to the fetus. Although rare, congenital toxoplasmosis can cause severe neurological or ocular disease (leading to blindness), as well a...

Practice parameter: Evaluation of the child with microcephaly (an evidence-based review...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2744281
Neurology Ashwal S, Michelson D et. al.

Sep 16th, 2009 - To make evidence-based recommendations concerning the evaluation of the child with microcephaly. Relevant literature was reviewed, abstracted, and classified. RECOMMENDATIONS were based on a 4-tiered scheme of evidence classification. Microcephaly...

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Drugs  6 results see all →

News  301 results

Greater Clarity Around Diagnosis of Foetal Alcohol Syndrome Needed
https://www.medscape.com/viewarticle/953351

Jun 18th, 2021 - Formal diagnosis of foetal alcohol syndrome (FAS) is rarely made by UK paediatricians - possibly reflecting a lack of confidence in making the diagnosis - limiting treatment and better outcomes for these children, shows a study presented at this w...

Congenital CMV Tied to Increased Prevalence of Microcephaly
https://www.medscape.com/viewarticle/937507

Sep 17th, 2020 - NEW YORK (Reuters Health) - Congenital cytomegalovirus (CMV) is associated with a markedly increased prevalence of microcephaly at birth, according to a database study. "Congenital cytomegalovirus is an important cause of microcephaly in the Unite...

Congenital CMV Tied to Increased Prevalence of Microcephaly
https://www.staging.medscape.com/viewarticle/937507

Sep 17th, 2020 - NEW YORK (Reuters Health) - Congenital cytomegalovirus (CMV) is associated with a markedly increased prevalence of microcephaly at birth, according to a database study. "Congenital cytomegalovirus is an important cause of microcephaly in the Unite...

Beyond Microcephaly: Zika-Affected Children Near School Age
https://www.medscape.com/viewarticle/936577

Aug 31st, 2020 - In 2020, "the virus" has come to mean one thing: SARS-CoV-2. But just a few years ago, Zika had the world's attention, as one news report after another described children with microcephaly born to women who'd been infected while pregnant. It can b...

Beyond Microcephaly: Zika-Affected Children Near School Age
https://www.staging.medscape.com/viewarticle/936577

Aug 31st, 2020 - In 2020, "the virus" has come to mean one thing: SARS-CoV-2. But just a few years ago, Zika had the world's attention, as one news report after another described children with microcephaly born to women who'd been infected while pregnant. It can b...

see more →