Literature DB >> 2246772

The Nance-Horan syndrome.

I R Walpole1, A Hockey, A Nicoll.   

Abstract

Entities:  

Mesh：

Year:  1990        PMID： 2246772      PMCID： PMC1017242          DOI： 10.1136/jmg.27.10.632

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  5 in total

1.  X-chromosomal-linked sutural cataracts.

Authors:  A E Krill; G Woodbury; J E Bowman
Journal:  Am J Ophthalmol       Date:  1969-11       Impact factor: 5.258

2.  The Nance-Horan syndrome: a rare X-linked ocular-dental trait with expression in heterozygous females.

Authors:  D Bixler; M Higgins; J Hartsfield
Journal:  Clin Genet       Date:  1984-07       Impact factor: 4.438

3.  X-linked colobomatous microphthalmos and other congenital anomalies. A disorder resembling Lenz's dysmorphogenetic syndrome.

Authors:  M F Goldberg; V A McKusick
Journal:  Am J Ophthalmol       Date:  1971-05       Impact factor: 5.258

4.  Congenital X-linked cataract, dental anomalies and brachymetacarpalia.

Authors:  W E Nance; M Warburg; D Bixler; E M Helveston
Journal:  Birth Defects Orig Artic Ser       Date:  1974

5.  A family with X-chromosomal recessive congenital cataract, microphthalmia, a peculiar form of the ear and dental anomalies.

Authors:  D B van Dorp; J W Delleman
Journal:  J Pediatr Ophthalmol Strabismus       Date:  1979 May-Jun       Impact factor: 1.402
  5 in total
  16 in total

1.  Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing.

Authors:  Nan Hong; Yan-hua Chen; Chen Xie; Bai-sheng Xu; Hui Huang; Xin Li; Yue-qing Yang; Ying-ping Huang; Jian-lian Deng; Ming Qi; Yang-shun Gu
Journal:  J Zhejiang Univ Sci B       Date:  2014-08       Impact factor: 3.066

Review 2.  Classification of microphthalmos and coloboma.

Authors:  M Warburg
Journal:  J Med Genet       Date:  1993-08       Impact factor: 6.318

3.  The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly.

Authors:  Manèl Chograni; Imen Rejeb; Lamia Ben Jemaa; Myriam Châabouni; Habiba Chaabouni Bouhamed
Journal:  Eur J Hum Genet       Date:  2011-05-11       Impact factor: 4.246

4.  Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?

Authors:  Molka Kammoun; Paul Brady; Luc De Catte; Jan Deprest; Koenraad Devriendt; Joris Robert Vermeesch
Journal:  Eur J Hum Genet       Date:  2018-01-22       Impact factor: 4.246

Review 5.  Molecular genetics of supernumerary tooth formation.

Authors:  Xiu-Ping Wang; Jiabing Fan
Journal:  Genesis       Date:  2011-04-01       Impact factor: 2.487

6.  Ophthalmic pathology of Nance-Horan syndrome: case report and review of the literature.

Authors:  Xiaoyan Ding; Mrinali Patel; Alexandra A Herzlich; Pamela C Sieving; Chi-Chao Chan
Journal:  Ophthalmic Genet       Date:  2009-09       Impact factor: 1.803

7.  Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.

Authors:  Kathryn P Burdon; James D McKay; Michèle M Sale; Isabelle M Russell-Eggitt; David A Mackey; M Gabriela Wirth; James E Elder; Alan Nicoll; Michael P Clarke; Liesel M FitzGerald; James M Stankovich; Marie A Shaw; Shiwani Sharma; Srecko Gajovic; Peter Gruss; Shelley Ross; Paul Thomas; Anne K Voss; Tim Thomas; Jozef Gécz; Jamie E Craig
Journal:  Am J Hum Genet       Date:  2003-10-16       Impact factor: 11.025

8.  Identification of three novel NHS mutations in families with Nance-Horan syndrome.

Authors:  Kristen M Huang; Junhua Wu; Simon P Brooks; Alison J Hardcastle; Richard Alan Lewis; Dwight Stambolian
Journal:  Mol Vis       Date:  2007-03-27       Impact factor: 2.367

9.  X-linked cataract and Nance-Horan syndrome are allelic disorders.

Authors:  Margherita Coccia; Simon P Brooks; Tom R Webb; Katja Christodoulou; Izabella O Wozniak; Victoria Murday; Martha Balicki; Harris A Yee; Teresia Wangensteen; Ruth Riise; Anand K Saggar; Soo-Mi Park; Naheed Kanuga; Peter J Francis; Eamonn R Maher; Anthony T Moore; Isabelle M Russell-Eggitt; Alison J Hardcastle
Journal:  Hum Mol Genet       Date:  2009-05-04       Impact factor: 6.150

10.  Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform.

Authors:  Shiwani Sharma; Kathryn P Burdon; Alpana Dave; Robyn V Jamieson; Yuval Yaron; Frank Billson; Lionel Van Maldergem; Birgit Lorenz; Jozef Gécz; Jamie E Craig
Journal:  Mol Vis       Date:  2008-10-20       Impact factor: 2.367
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