Literature DB >> 1554013

The second report of Knobloch syndrome.

A E Czeizel1, P Göblyös, G Kustos, E Mester, E Paraicz.   

Abstract

Two sibs affected with Knobloch syndrome comprising severe visual handicap (high myopia and retinal detachment with other defects), atypical occipital cephalocele, and unusual plantar creases are described.

Entities:  

Mesh：

Year:  1992        PMID： 1554013     DOI： 10.1002/ajmg.1320420605

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  7 in total

1.  Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome.

Authors:  O T Suzuki; A L Sertié; V M Der Kaloustian; F Kok; M Carpenter; J Murray; A E Czeizel; S E Kliemann; S Rosemberg; M Monteiro; B R Olsen; M R Passos-Bueno
Journal:  Am J Hum Genet       Date:  2002-11-01       Impact factor: 11.025

2.  Case Report: Novel Biallelic Variants in the COL18A1 Gene in a Chinese Family With Knobloch Syndrome.

Authors:  Shuk Ching Chong; Yuet-Ping Yuen; Ye Cao; Sze-Shing Fan; Tak Yeung Leung; Emily K Y Chan; Xian Lun Zhu
Journal:  Front Neurol       Date:  2022-05-26       Impact factor: 4.086

3.  Evaluation and management of pediatric rhegmatogenous retinal detachment.

Authors:  Adam S Wenick; David E Barañano
Journal:  Saudi J Ophthalmol       Date:  2012-05-24

Review 4.  Endostatin's emerging roles in angiogenesis, lymphangiogenesis, disease, and clinical applications.

Authors:  Amit Walia; Jessica F Yang; Yu-Hui Huang; Mark I Rosenblatt; Jin-Hong Chang; Dimitri T Azar
Journal:  Biochim Biophys Acta       Date:  2015-09-12

5.  Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.

Authors:  Alireza Haghighi; Amit Tiwari; Niloofar Piri; Gudrun Nürnberg; Nasrollah Saleh-Gohari; Amirreza Haghighi; John Neidhardt; Peter Nürnberg; Wolfgang Berger
Journal:  PLoS One       Date:  2014-11-13       Impact factor: 3.240

6.  Knobloch Syndrome Associated with Novel COL18A1 Variants in Chinese Population.

Authors:  Songshan Li; You Wang; Limei Sun; Wenjia Yan; Li Huang; Zhaotian Zhang; Ting Zhang; Xiaoyan Ding
Journal:  Genes (Basel)       Date:  2021-09-26       Impact factor: 4.096

7.  Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome.

Authors:  Oscar Suzuki; Erika Kague; Kelly Bagatini; Hongmin Tu; Ritva Heljasvaara; Lorenza Carvalhaes; Elisandra Gava; Gisele de Oliveira; Paulo Godoi; Glaucius Oliva; Gregory Kitten; Taina Pihlajaniemi; Maria-Rita Passos-Bueno
Journal:  Mol Vis       Date:  2009-04-23       Impact factor: 2.367
  7 in total

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