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About 205 results

ALLMedicine™ Pachygyria Center

Research & Reviews  79 results

A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.
https://doi.org/10.1002/ajmg.a.63080
American Journal of Medical Genetics. Part A; Dawood M, Akay G et. al.

Jan 5th, 2023 - Protein phosphatase 1 regulatory subunit 35 (PPP1R35) encodes a centrosomal protein required for recruiting microtubule-binding elongation machinery. Several proteins in this centriole biogenesis pathway correspond to established primary microceph...

Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy.
https://doi.org/10.1016/j.ejmg.2022.104622
European Journal of Medical Genetics; Naim A, Accogli A et. al.

Sep 20th, 2022 - KIF5C encodes a protein belonging to the kinesin family and involved in cellular transport. Variants in KIF5C were first associated a decade ago with microcephaly and malformations of cortical development, with a phenotypic spectrum ranging from p...

Pediatric Hypomelanosis of Ito Workup
https://emedicine.medscape.com/article/909996-workup

Aug 4th, 2022 - Imaging Studies Neuroradiological abnormalities are reported in at least one third of the patients. Because many of the lesions are dysplastic or neuroblastic migration abnormalities, MRI is more useful than CT scanning. Increase in the T2 signal ...

Broadening the phenotypic spectrum of TUBA1A tubulinopathy to syndromic arthrogryposis ...
https://doi.org/10.1002/ajmg.a.62866
American Journal of Medical Genetics. Part A; Weber M, Jaber D et. al.

Jun 11th, 2022 - The recent finding that some patients with fetal akinesia deformation sequence (FADS) carry variants in the TUBB2B gene has prompted us to add to the existing literature a first description of two fetal FADS cases carrying TUBA1A variants. Hithert...

Baraitser-Winter Cerebrofrontofacial Syndrome - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/baraitser-winter/

Mar 24th, 2022 - Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome is a multiple congenital anomaly syndrome characterized by typical craniofacial features and intellectual disability. Many (but not all) affected individuals have pachygyria that is predominant...

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News  3 results

Radiologists Show Zika Effects Extend Beyond Microcephaly
https://www.staging.medscape.com/viewarticle/872635

Dec 1st, 2016 - CHICAGO — Zika infection can have devastating effects on the central nervous system beyond microcephaly, and can cause a wide range of brain abnormalities, including paralysis and death in adults, according to two new studies from Brazil. The two ...

Radiologists Show Zika Effects Extend Beyond Microcephaly
https://www.medscape.com/viewarticle/872635

Dec 1st, 2016 - CHICAGO — Zika infection can have devastating effects on the central nervous system beyond microcephaly, and can cause a wide range of brain abnormalities, including paralysis and death in adults, according to two new studies from Brazil. The two ...

Congenital Zika syndrome includes range of neurologic abnormalities
https://www.mdedge.com/obgyn/article/114813/neurodevelopmental-disorders/congenital-zika-syndrome-includes-range-neurologic
Bianca Nogrady

Oct 3rd, 2016 - Researchers have proposed the term “congenital Zika syndrome” to cover the range of severe damage and developmental abnormalities – including microcephaly – caused by Zika virus infection. In the Oct.

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