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6 in total

1. Sequence analysis and transcript identification within 1.5 MB of DNA deleted together with the NDP and MAO genes in atypical Norrie disease patients presenting with a profound phenotype.

Authors: B Suárez-Merino; J Bye; J McDowall; M Ross; I W Craig
Journal: Hum Mutat Date: 2001-06 Impact factor: 4.878

2. Epilepsy phenotypes in siblings with Norrie disease.

Authors: Akihisa Okumura; Eisuke Arai; Yuri Kitamura; Shinpei Abe; Mitsuru Ikeno; Takuro Fujimaki; Toshiyuki Yamamoto; Toshiaki Shimizu
Journal: Brain Dev Date: 2015-05-02 Impact factor: 1.961

3. Norrie disease: extraocular clinical manifestations in 56 patients.

Authors: Sharon E Smith; Thomas E Mullen; Dionne Graham; Katherine B Sims; Heidi L Rehm
Journal: Am J Med Genet A Date: 2012-07-11 Impact factor: 2.802

4. A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms.

Authors: Dorit Lev; Yuval Weigl; Mariana Hasan; Eva Gak; Michael Davidovich; Chana Vinkler; Esther Leshinsky-Silver; Tally Lerman-Sagie; Nathan Watemberg
Journal: Am J Med Genet A Date: 2007-05-01 Impact factor: 2.802

5. Two Thai families with Norrie disease (ND): association of two novel missense mutations with severe ND phenotype, seizures, and a manifesting carrier.

Authors: K Yamada; P Limprasert; M Ratanasukon; S Tengtrisorn; J Yingchareonpukdee; P Vasiknanonte; T Kitaoka; M Ghadami; N Niikawa; T Kishino
Journal: Am J Med Genet Date: 2001-04-15

6. Norrie disease resulting from a gene deletion: clinical features and DNA studies.

Authors: D Donnai; R C Mountford; A P Read
Journal: J Med Genet Date: 1988-02 Impact factor: 6.318

6 in total