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2. Norrie disease caused by a gene deletion allowing carrier detection and prenatal diagnosis. de la Chapelle A; Sankila EM; Lindlöf M; Aula P; Norio R Clin Genet; 1985 Oct; 28(4):317-20. PubMed ID: 2998655 [TBL] [Abstract][Full Text] [Related]
3. Restriction enzyme analysis of Norrie disease pedigrees. Chung SR; Katayama S; Lebo R; Golbus MS Asia Oceania J Obstet Gynaecol; 1992 Sep; 18(3):255-61. PubMed ID: 1360203 [TBL] [Abstract][Full Text] [Related]
4. 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]
5. Norrie disease as part of a complex syndrome explained by a submicroscopic deletion of the X chromosome. Bleeker-Wagemakers EM; Zweije-Hofman I; Gal A Ophthalmic Paediatr Genet; 1988 Nov; 9(3):137-42. PubMed ID: 3231429 [TBL] [Abstract][Full Text] [Related]
6. Norrie disease: linkage analysis using a 4.2-kb RFLP detected by a human ornithine aminotransferase cDNA probe. Ngo JT; Bateman JB; Cortessis V; Sparkes RS; Mohandas T; Inana G; Spence MA Genomics; 1989 May; 4(4):539-45. PubMed ID: 2568328 [TBL] [Abstract][Full Text] [Related]
7. Norrie disease resulting from a gene deletion: clinical features and DNA studies. Donnai D; Mountford RC; Read AP J Med Genet; 1988 Feb; 25(2):73-8. PubMed ID: 3162283 [TBL] [Abstract][Full Text] [Related]
8. The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3. Sims KB; Lebo RV; Benson G; Shalish C; Schuback D; Chen ZY; Bruns G; Craig IW; Golbus MS; Breakefield XO Hum Mol Genet; 1992 May; 1(2):83-9. PubMed ID: 1301161 [TBL] [Abstract][Full Text] [Related]
9. Prenatal exclusion of Norrie's disease. Redmond RM; Graham CA; Kelly ED; Coleman M; Nevin NC Br J Ophthalmol; 1992 Aug; 76(8):491-3. PubMed ID: 1390533 [TBL] [Abstract][Full Text] [Related]
10. Prenatal diagnosis of X-linked choroideremia with mental retardation, associated with a cytologically detectable X-chromosome deletion. Hodgson SV; Robertson ME; Fear CN; Goodship J; Malcolm S; Jay B; Bobrow M; Pembrey ME Hum Genet; 1987 Mar; 75(3):286-90. PubMed ID: 3030927 [TBL] [Abstract][Full Text] [Related]
11. Carrier detection in 50 haemophilia A kindred by means of three intragenic and two extragenic restriction fragment length polymorphisms. Moodie P; Liddell MB; Peake IR; Bloom AL Br J Haematol; 1988 Sep; 70(1):77-84. PubMed ID: 2902876 [TBL] [Abstract][Full Text] [Related]
12. [Norrie syndrome: identification of carriers by segregation analysis with flanking DNA markers]. Körner J; Uhlhaas S; Neugebauer M; Gal A Fortschr Ophthalmol; 1989; 86(1):78-81. PubMed ID: 2566566 [TBL] [Abstract][Full Text] [Related]
13. Prenatal exclusion of Norrie disease with flanking DNA markers. Gal A; Uhlhaas S; Glaser D; Grimm T Am J Med Genet; 1988 Oct; 31(2):449-53. PubMed ID: 3068991 [TBL] [Abstract][Full Text] [Related]
14. Incidental prenatal detection of an Xp deletion using an anonymous primer pair for fetal sexing. Jakubiczka S; Mitulla B; Liehr T; Arnemann J; Lehrach H; Sudbrak R; Stumm M; Wieacker PF; Bettecken T Prenat Diagn; 2000 Oct; 20(10):842-6. PubMed ID: 11038467 [TBL] [Abstract][Full Text] [Related]
15. Characterization of a YAC containing part or all of the Norrie disease locus. Chen ZY; Sims KB; Coleman M; Donnai D; Monaco A; Breakefield XO; Davies KE; Craig IW Hum Mol Genet; 1992 Jun; 1(3):161-4. PubMed ID: 1303171 [TBL] [Abstract][Full Text] [Related]
16. Carrier detection and prenatal diagnosis in X linked muscular dystrophy using restriction fragment length polymorphisms. Lindlöf M; Kääriäinen H; Davies KE; de la Chapelle A J Med Genet; 1986 Dec; 23(6):560-72. PubMed ID: 2879928 [TBL] [Abstract][Full Text] [Related]
17. Linkage analysis of Norrie disease with an X-chromosomal ornithine aminotransferase locus. Bateman JB; Kojis TL; Cantor RM; Heinzmann C; Ngo JT; Spence MA; Inana G; Kivlin JD; Curtis D; Sparkes RS Trans Am Ophthalmol Soc; 1993; 91():299-307; discussion 307-8. PubMed ID: 7908152 [TBL] [Abstract][Full Text] [Related]
18. A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease. Fuchs S; Xu SY; Caballero M; Salcedo M; La O A; Wedemann H; Gal A Hum Mol Genet; 1994 Apr; 3(4):655-6. PubMed ID: 8069314 [No Abstract] [Full Text] [Related]
20. Linkage analysis in a large family with nonspecific X-linked mental retardation. Glass IA; White EM; Pope MJ; Pirrit LA; Cockburn F; Connor JM Am J Med Genet; 1991; 38(2-3):240-3. PubMed ID: 1673298 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]