Literature DB >> 20940740

Clinical utility gene card for: Axenfeld-Rieger syndrome.

Nicole Weisschuh1, Elfride De Baere, Bernd Wissinger, Zeynep Tümer.   

Abstract

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Year:  2010        PMID： 20940740      PMCID： PMC3061995          DOI： 10.1038/ejhg.2010.163

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  8 in total

1.  PITs and FOXes in ocular genetics: the Cogan lecture.

Authors:  Michael A Walter
Journal:  Invest Ophthalmol Vis Sci       Date:  2003-04       Impact factor: 4.799

Review 2.  Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.

Authors:  Zeynep Tümer; Daniella Bach-Holm
Journal:  Eur J Hum Genet       Date:  2009-06-10       Impact factor: 4.246

3.  A second locus for Rieger syndrome maps to chromosome 13q14.

Authors:  J C Phillips; E A del Bono; J L Haines; A M Pralea; J S Cohen; L J Greff; J L Wiggs
Journal:  Am J Hum Genet       Date:  1996-09       Impact factor: 11.025

4.  Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations.

Authors:  Barbara D'haene; Françoise Meire; Ilse Claerhout; Hester Y Kroes; Astrid Plomp; Yvonne H Arens; Thomy de Ravel; Ingele Casteels; Sarah De Jaegere; Sally Hooghe; Wim Wuyts; Jenneke van den Ende; Françoise Roulez; Hermine E Veenstra-Knol; Rogier A Oldenburg; Jacques Giltay; Johanna B G M Verheij; Jan-Tjeerd de Faber; Björn Menten; Anne De Paepe; Philippe Kestelyn; Bart P Leroy; Elfride De Baere
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-01-21       Impact factor: 4.799

5.  A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene.

Authors:  Robert A Honkanen; Darryl Y Nishimura; Ruth E Swiderski; Steven R Bennett; Sungpyo Hong; Young H Kwon; Edwin M Stone; Val C Sheffield; Wallace L M Alward
Journal:  Am J Ophthalmol       Date:  2003-03       Impact factor: 5.258

6.  Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia.

Authors:  Yoko A Ito; Tim K Footz; Fred B Berry; Farideh Mirzayans; May Yu; Arif O Khan; Michael A Walter
Journal:  Invest Ophthalmol Vis Sci       Date:  2009-03-11       Impact factor: 4.799

7.  The transcription factor gene FOXC1 exhibits a limited role in primary congenital glaucoma.

Authors:  Subhabrata Chakrabarti; Kiranpreet Kaur; Kollu Nageswara Rao; Anil K Mandal; Inderjeet Kaur; Rajul S Parikh; Ravi Thomas
Journal:  Invest Ophthalmol Vis Sci       Date:  2008-08-15       Impact factor: 4.799

8.  A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly.

Authors:  N Weisschuh; C Wolf; B Wissinger; E Gramer
Journal:  Clin Genet       Date:  2008-05-21       Impact factor: 4.438
  8 in total
  7 in total

1.  Novel c.300_301delinsT mutation in PITX2 in a Korean family with Axenfeld-Rieger syndrome.

Authors:  Jae Won Yun; Hyun-Kyung Cho; Soo-Young Oh; Chang-Seok Ki; Changwon Kee
Journal:  Ann Lab Med       Date:  2013-08-08       Impact factor: 3.464

2.  Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger Syndrome.

Authors:  Kuanshu Li; Liu Yang; Ying Liu; Ding Lin
Journal:  J Ophthalmol       Date:  2017-06-13       Impact factor: 1.909

3.  Novel mutations in the PITX2 gene in Pakistani and Mexican families with Axenfeld-Rieger syndrome.

Authors:  Valeria Lo Faro; Sorath N Siddiqui; Muhammad I Khan; Cristina Villanueva-Mendoza; Vianney Cortés-González; Nomdo Jansonius; Arthur A B Bergen; Shazia Micheal
Journal:  Mol Genet Genomic Med       Date:  2020-05-13       Impact factor: 2.183

4.  A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing.

Authors:  Lusi Zhang; Yingqian Peng; Pingbo Ouyang; Youling Liang; Huilan Zeng; Nuo Wang; Xuanchu Duan; Jingming Shi
Journal:  BMC Med Genet       Date:  2019-06-11       Impact factor: 2.103

5.  A PITX2 splice-site mutation in a family with Axenfeld-Rieger syndrome leads to decreased expression of nuclear PITX2 protein.

Authors:  Feng Zhang; Lusi Zhang; Li He; Mengdan Cao; Yuting Yang; Xuanchu Duan; Jingming Shi; Ke Liu
Journal:  Int Ophthalmol       Date:  2021-01-25       Impact factor: 2.031

6.  Comparison of Anterior Segment Abnormalities in Individuals With FOXC1 and PITX2 Variants.

Authors:  Mallika Prem Senthil; Lachlan S W Knight; Deepa Taranath; David A Mackey; Jonathan B Ruddle; Mark Y Chiang; Owen M Siggs; Emmanuelle Souzeau; Jamie E Craig
Journal:  Cornea       Date:  2022-03-30       Impact factor: 3.152

7.  Lgr4 in ocular development and glaucoma.

Authors:  Stefan Siwko; Li Lai; Jinsheng Weng; Mingyao Liu
Journal:  J Ophthalmol       Date:  2013-06-05       Impact factor: 1.909
  7 in total

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