Literature DB >> 17546652

CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene.

Boris Keren1, Oscar T Suzuki, Marion Gérard-Blanluet, Dominique Brémond-Gignac, Monique Elmaleh, Luigi Titomanlio, Anne-Lise Delezoide, Maria Rita Passos-Bueno, Alain Verloes.   

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Year:  2007        PMID： 17546652     DOI： 10.1002/ajmg.a.31784

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


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  14 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.  Progressive retinal degeneration in a girl with Knobloch syndrome who presented with signs of ocular albinism.

Authors:  Libe Gradstein; Ronald M Hansen; Gerald F Cox; Pablo Altschwager; Anne B Fulton
Journal:  Doc Ophthalmol       Date:  2017-01-31       Impact factor: 2.379

3.  Knobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigree.

Authors:  Lu-Si Zhang; Hai-Bo Li; Jun Zeng; Yan Yang; Chun Ding
Journal:  Int J Ophthalmol       Date:  2018-06-18       Impact factor: 1.779

Review 4.  Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations.

Authors:  Ahmet Okay Caglayan; Jacob F Baranoski; Fesih Aktar; Wengi Han; Beyhan Tuysuz; Aslan Guzel; Bulent Guclu; Hande Kaymakcalan; Berrin Aktekin; Gozde Tugce Akgumus; Phillip B Murray; Emine Z Erson-Omay; Caner Caglar; Mehmet Bakircioglu; Yildirim Bayezit Sakalar; Ebru Guzel; Nihat Demir; Oguz Tuncer; Senem Senturk; Baris Ekici; Frank J Minja; Nenad Šestan; Katsuhito Yasuno; Kaya Bilguvar; Huseyin Caksen; Murat Gunel
Journal:  Pediatr Neurol       Date:  2014-09-04       Impact factor: 3.372

Review 5.  Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain.

Authors:  Danielle M Andrade
Journal:  Hum Genet       Date:  2009-06-18       Impact factor: 4.132

Review 6.  Updates on Genes and Genetic Mechanisms Implicated in Primary Angle-Closure Glaucoma.

Authors:  Altaf A Kondkar
Journal:  Appl Clin Genet       Date:  2021-03-09

7.  Deletion of the basement membrane heparan sulfate proteoglycan type XVIII collagen causes hypertriglyceridemia in mice and humans.

Authors:  Joseph R Bishop; Maria Rita Passos-Bueno; Loren Fong; Kristin I Stanford; Jon C Gonzales; Erika Yeh; Stephen G Young; Andre Bensadoun; Joseph L Witztum; Jeffrey D Esko; Karen S Moulton
Journal:  PLoS One       Date:  2010-11-10       Impact factor: 3.240

8.  The spectrum of brain malformations and disruptions in twins.

Authors:  Kaylee B Park; Teresa Chapman; Kimberly A Aldinger; Ghayda M Mirzaa; Jordan Zeiger; Anita Beck; Ian A Glass; Robert F Hevner; Anna C Jansen; Desiree A Marshall; Renske Oegema; Elena Parrini; Russell P Saneto; Cynthia J Curry; Judith G Hall; Renzo Guerrini; Richard J Leventer; William B Dobyns
Journal:  Am J Med Genet A       Date:  2020-11-18       Impact factor: 2.802

Review 9.  ADAMTS-18: a metalloproteinase with multiple functions.

Authors:  Jianlu Wei; Chuan-ju Liu; Zongdong Li
Journal:  Front Biosci (Landmark Ed)       Date:  2014-06-01

10.  An Early Diagnostic Clue for COL18A1- and LAMA1-Associated Diseases: High Myopia With Alopecia Areata in the Cranial Midline.

Authors:  Panfeng Wang; Xiaoyun Jia; Xueshan Xiao; Shiqiang Li; Yuxi Long; Mengchu Liu; Yongyu Li; Jun Li; Yan Xu; Qingjiong Zhang
Journal:  Front Cell Dev Biol       Date:  2021-06-25
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