INFORMAZIONI SU QUESTO ARTICOLO

Cita

1. Lev D, Weigl Y, Hasan M, Gak E, Davidovich M, Vinkler C, et al. A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms. Am J Med Genet A. 2007 May 1;143A(9):921-4. PubMed PMID: 17334993.10.1002/ajmg.a.3153117334993Search in Google Scholar

2. Halpin C, Owen G, Gutierrez-Espeleta GA, Sims K, Rehm HL. Audiologic features of Norrie disease. Ann Otol Rhinol Laryngol. 2005 Jul;114(7):533-8. PubMed PMID: 16134349.10.1177/00034894051140070716134349Search in Google Scholar

3. Halpin C, Sims K. Twenty years of audiology in a patient with Norrie disease. Int J Pediatr Otorhinolaryngol. 2008 Nov;72(11):1705-10. PubMed PMID: 18817988. Epub 2008/09/24. 10.1016/j.ijporl.2008.08.00718817988Search in Google Scholar

4. Shastry BS. Persistent hyperplastic primary vitreous: congenital malformation of the eye. Clin Experiment Ophthalmol. 2009 Dec;37(9):884-90. PubMed PMID: 20092598.10.1111/j.1442-9071.2009.02150.x20092598Search in Google Scholar

5. Hiraoka M, Berinstein DM, Trese MT, Shastry BS. Insertion and deletion mutations in the dinucleotide repeat region of the Norrie disease gene in patients with advanced retinopathy of prematurity. J Hum Genet. 2001;46(4):178-81. PubMed PMID: 11322656.10.1007/s10038017008511322656Search in Google Scholar

6. Berger W, Ropers HH. Norrie disease. The Metabolic and Molecular Bases of Inherited Disease. 8 ed. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW et al., editors. New York: McGrawHill; 2001. 6338p.Search in Google Scholar

7. Rodriguez-Revenga L, Madrigal I, Alkhalidi LS, Armengol L, Gonzalex E, Badenas C, et al. Contiguous deletion of the NDP, MAOA, MAOBV and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy. Am J Med Genet A. 2007 May;143A(9):916-20. PubMed PMID: 17431911.10.1002/ajmg.a.3152117431911Search in Google Scholar

8. Sims KB. NDP-Related Retinopathies. In: RA Pagon, MP Adam, HH Ardinger, SE Wallace, A Amemiya, LJH Bean, et al., editors. GeneReviews( R). Seattle (WA)1993.Search in Google Scholar

9. Chen B, Gagnon M, Shahangian S, Anderson NL, Howerton DA, Boone JD. Good Laboratory Practices for Molecular Genetic Testing for Heritable Diseases and Conditions. MMWR Recomm Rep. 2009 Jun 12; 58 (RR-6):1-37. PubMed PMID: 19521335.Search in Google Scholar

10. Stone EM, Aldave AJ, Drack AV, Maccumber MW, Sheffield VC, Traboulsi E, et al. Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testing. Ophthalmology. 2012 Nov;119(11):2408-10. PubMed PMID: 22944025. Epub 2012/09/01.10.1016/j.ophtha.2012.05.04722944025Search in Google Scholar

eISSN:
2564-615X
Lingua:
Inglese
Frequenza di pubblicazione:
4 volte all'anno
Argomenti della rivista:
Life Sciences, Genetics, Biotechnology, Bioinformatics, other