Literature DB >> 19530192

Band-like intracranial calcification (BIC), microcephaly and malformation of brain development: a distinctive form of congenital infection like syndromes.

Ghada M H Abdel-Salam, Maha S Zaki.   

Abstract

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Year:  2009        PMID： 19530192     DOI： 10.1002/ajmg.a.32894

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  5 in total

1.  Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.

Authors:  Mary C O'Driscoll; Sarah B Daly; Jill E Urquhart; Graeme C M Black; Daniela T Pilz; Knut Brockmann; Meriel McEntagart; Ghada Abdel-Salam; Maha Zaki; Nicole I Wolf; Roger L Ladda; Susan Sell; Stefano D'Arrigo; Waney Squier; William B Dobyns; John H Livingston; Yanick J Crow
Journal:  Am J Hum Genet       Date:  2010-08-19       Impact factor: 11.025

2.  A novel rearrangement of occludin causes brain calcification and renal dysfunction.

Authors:  Marissa A LeBlanc; Lynette S Penney; Daniel Gaston; Yuhao Shi; Erika Aberg; Mathew Nightingale; Haiyan Jiang; Roxanne M Gillett; Somayyeh Fahiminiya; Christine Macgillivray; Ellen P Wood; Philip D Acott; M Naeem Khan; Mark E Samuels; Jacek Majewski; Andrew Orr; Christopher R McMaster; Karen Bedard
Journal:  Hum Genet       Date:  2013-06-21       Impact factor: 4.132

3.  A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.

Authors:  Ganeshwaran H Mochida; Vijay S Ganesh; Jillian M Felie; Danielle Gleason; R Sean Hill; Katie Rose Clapham; Daniel Rakiec; Wen-Hann Tan; Nadia Akawi; Muna Al-Saffar; Jennifer N Partlow; Sigrid Tinschert; A James Barkovich; Bassam Ali; Lihadh Al-Gazali; Christopher A Walsh
Journal:  Am J Hum Genet       Date:  2010-11-25       Impact factor: 11.025

4.  Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations.

Authors:  Mohamed S Abdel-Hamid; Ghada M H Abdel-Salam; Mahmoud Y Issa; Bayoumi A Emam; Maha S Zaki
Journal:  J Hum Genet       Date:  2017-02-09       Impact factor: 3.172

5.  A Novel Familial Case Report of Genetic Syndrome Mimicking Congenital TORCH infections; Pseudo-TORCH Syndrome 2.

Authors:  Iram Sehrish; Tella Sunitha; Avvari Srilekha; Aayushi Gupta; Pratibha Nallari; Ananthapur Venkateshwari
Journal:  J Reprod Infertil       Date:  2022 Apr-Jun
  5 in total

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