Literature DB >> 2576480

Mapping the gene for X-linked cataracts and microcornea with facial, dental, and skeletal features to Xp22: an appraisal of the Nance-Horan syndrome.

R A Lewis1.   

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Year:  1989        PMID： 2576480      PMCID： PMC1298561     

Source DB:  PubMed          Journal:  Trans Am Ophthalmol Soc        ISSN： 0065-9533


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  95 in total

1.  Lenticular opacities in carriers of Lowe's syndrome.

Authors:  G W Cibis; J M Waeltermann; C T Whitcraft; R C Tripathi; D J Harris
Journal:  Ophthalmology       Date:  1986-08       Impact factor: 12.079

2.  Spontaneous mutation and parental age in humans.

Authors:  N Risch; E W Reich; M M Wishnick; J G McCarthy
Journal:  Am J Hum Genet       Date:  1987-08       Impact factor: 11.025

Review 3.  Fragile X syndrome: a unique mutation in man.

Authors:  R L Nussbaum; D H Ledbetter
Journal:  Annu Rev Genet       Date:  1986       Impact factor: 16.830

4.  Congenital cataract with microcornea and Peters' anomaly as expressions of one autosomal dominant gene.

Authors:  J S Green; G J Johnson
Journal:  Ophthalmic Paediatr Genet       Date:  1986-12

5.  Mapping the Lowe oculocerebrorenal syndrome to Xq24-q26 by use of restriction fragment length polymorphisms.

Authors:  D N Silver; R A Lewis; R L Nussbaum
Journal:  J Clin Invest       Date:  1987-01       Impact factor: 14.808

6.  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

7.  Genetic linkage study between the loci for Duchenne and Becker muscular dystrophy and nine X-chromosomal DNA markers.

Authors:  E Wilichowski; M Krawczak; E Seemanova; F Hanefeld; J Schmidtke
Journal:  Hum Genet       Date:  1987-01       Impact factor: 4.132

8.  Multipoint linkage analysis of loci in the proximal long arm of the human X chromosome: application to mapping the choroideremia locus.

Authors:  J G Lesko; R A Lewis; R L Nussbaum
Journal:  Am J Hum Genet       Date:  1987-04       Impact factor: 11.025

9.  Molecular detection of deletions involving band q14 of chromosome 13 in retinoblastomas.

Authors:  T P Dryja; J M Rapaport; J M Joyce; R A Petersen
Journal:  Proc Natl Acad Sci U S A       Date:  1986-10       Impact factor: 11.205

10.  Structural analysis of the X-linked gene encoding human glucose 6-phosphate dehydrogenase.

Authors:  G Martini; D Toniolo; T Vulliamy; L Luzzatto; R Dono; G Viglietto; G Paonessa; M D'Urso; M G Persico
Journal:  EMBO J       Date:  1986-08       Impact factor: 11.598
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  8 in total

1.  Linkage analysis of Norrie disease with X-chromosomal ornithine aminotransferase.

Authors:  J B Bateman
Journal:  Trans Am Ophthalmol Soc       Date:  1992

2.  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

3.  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

4.  Hereditary pediatric cataract on the Arabian Peninsula.

Authors:  Arif O Khan
Journal:  Saudi J Ophthalmol       Date:  2012-01

5.  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

6.  A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family.

Authors:  Qi Tian; Yunping Li; Rizwana Kousar; Hui Guo; Fenglan Peng; Yu Zheng; Xiaohua Yang; Zhigao Long; Runyi Tian; Kun Xia; Haiying Lin; Qian Pan
Journal:  BMC Med Genet       Date:  2017-01-07       Impact factor: 2.103

7.  Oral Manifestations of Nance-Horan Syndrome: A Report of a Rare Case.

Authors:  Neil De Souza; Paul Chalakkal; Sergio Martires; Renita Soares
Journal:  Contemp Clin Dent       Date:  2019 Jan-Mar

Review 8.  [Genetic examination in cases of congenital cataract].

Authors:  B Lorenz
Journal:  Ophthalmologe       Date:  2007-07       Impact factor: 1.174
  8 in total

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