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22. Microcephaly, lymphedema, chorioretinal dysplasia (MLCRD) syndrome. Kelly MN; Khuddus N; Motamarry S; Tuli S J Pediatr Health Care; 2012; 26(4):306-11. PubMed ID: 22726716 [No Abstract] [Full Text] [Related]
23. In utero diagnosis of Norrie disease and early laser preserves visual acuity. Kiernan DF; Blair MP; Shapiro MJ Arch Ophthalmol; 2010 Oct; 128(10):1382. PubMed ID: 20938020 [No Abstract] [Full Text] [Related]
24. Identification of a recurrent missense mutation in the Norrie disease gene associated with a simplex case of exudative vitreoretinopathy. Shastry BS Biochem Biophys Res Commun; 1998 May; 246(1):35-8. PubMed ID: 9618247 [TBL] [Abstract][Full Text] [Related]
25. Is the male Aicardi's characterized by 46 XXY karyotype? Saddichha S J Neurol Sci; 2009 Sep; 284(1-2):222; author reply 222. PubMed ID: 19359000 [No Abstract] [Full Text] [Related]
26. [Keratotorus in Norrie disease]. Lang GE; Rott HD; Naumann GO Klin Monbl Augenheilkd; 1991 Aug; 199(2):110-3. PubMed ID: 1960930 [TBL] [Abstract][Full Text] [Related]
29. Ultrastructural study of Norrie's disease. Van Nouhuys CE Am J Ophthalmol; 1991 Oct; 112(4):475-7. PubMed ID: 1928264 [No Abstract] [Full Text] [Related]
30. Microdeletion in the X-chromosome and prenatal diagnosis in a family with Norrie disease. Zhu DP; Antonarakis SE; Schmeckpeper BJ; Diergaarde PJ; Greb AE; Maumenee IH Am J Med Genet; 1989 Aug; 33(4):485-8. PubMed ID: 2596510 [TBL] [Abstract][Full Text] [Related]
31. [Retinal dysplasia. Morphological identity of the retinal dysplasia syndrome (Reese) and D (13-15) trisomy syndrome (Patau)]. Iwig M Zentralbl Allg Pathol; 1969; 112(5):492-504. PubMed ID: 5198066 [No Abstract] [Full Text] [Related]
32. [On a case of encephalo-ophthalmic dysplasia (Krause syndrome) characterized by unilaterality of the retinal dysplastic changes]. Frezzotti R; Guerra R Boll Ocul; 1969 Nov; 48(11):813-20. PubMed ID: 5403876 [No Abstract] [Full Text] [Related]
34. Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy. Shastry BS; Hejtmancik JF; Trese MT Hum Mutat; 1997; 9(5):396-401. PubMed ID: 9143917 [TBL] [Abstract][Full Text] [Related]
35. Blindness due to retinal dysplasia in broiler chicks. Shivaprasad HL; Korbel R Avian Dis; 2003; 47(3):769-73. PubMed ID: 14562911 [TBL] [Abstract][Full Text] [Related]
36. Lissencephaly and mild cerebellar vermis hypoplasia in a case of microcephaly and chorioretinal dysplasia. Lee BJ; Kim JH; Yu YS Ophthalmic Genet; 2010 Jun; 31(2):89-93. PubMed ID: 20450312 [TBL] [Abstract][Full Text] [Related]
37. Familial occurrence of congenital retinal blindness and developmental renal lesions. Dekaban AS J Genet Hum; 1969 Oct; 17(3):289-96. PubMed ID: 5387411 [No Abstract] [Full Text] [Related]
38. [Lyell's syndrome: Lyell's syndrome or Lyle's syndrome]. Kondurtsev VA Klin Med (Mosk); 1982 Feb; 60(2):109-10. PubMed ID: 7070014 [No Abstract] [Full Text] [Related]
39. [Familial encephalo-retinal dysplasia (Krause-Reese-Syndrome) with myoclonic-astatic petit mal seizures]. Matthes A; Stenzel K Z Kinderheilkd; 1968; 103(2):81-9. PubMed ID: 4971760 [No Abstract] [Full Text] [Related]
40. Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR. Riveiro-Alvarez R; Trujillo-Tiebas MJ; Gimenez-Pardo A; Garcia-Hoyos M; Cantalapiedra D; Lorda-Sanchez I; Rodriguez de Alba M; Ramos C; Ayuso C Mol Vis; 2005 Sep; 11():705-12. PubMed ID: 16163268 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]