178 related articles for article (PubMed ID: 25988908)
21. Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.
Perrault I; Hanein S; Zanlonghi X; Serre V; Nicouleau M; Defoort-Delhemmes S; Delphin N; Fares-Taie L; Gerber S; Xerri O; Edelson C; Goldenberg A; Duncombe A; Le Meur G; Hamel C; Silva E; Nitschke P; Calvas P; Munnich A; Roche O; Dollfus H; Kaplan J; Rozet JM
Nat Genet; 2012 Sep; 44(9):975-7. PubMed ID: 22842229
[TBL] [Abstract][Full Text] [Related]
22. NMNAT1 variants cause cone and cone-rod dystrophy.
Nash BM; Symes R; Goel H; Dinger ME; Bennetts B; Grigg JR; Jamieson RV
Eur J Hum Genet; 2018 Mar; 26(3):428-433. PubMed ID: 29184169
[TBL] [Abstract][Full Text] [Related]
23. Genome-wide homozygosity mapping in families with leber congenital amaurosis identifies mutations in AIPL1 and RDH12 genes.
Yücel-Yılmaz D; Tarlan B; Kıratlı H; Ozgül RK
DNA Cell Biol; 2014 Dec; 33(12):876-83. PubMed ID: 25148430
[TBL] [Abstract][Full Text] [Related]
24. Homozygosity mapping guided next generation sequencing to identify the causative genetic variation in inherited retinal degenerative diseases.
Sundaramurthy S; Swaminathan M; Sen P; Arokiasamy T; Deshpande S; John N; Gadkari RA; Mannan AU; Soumittra N
J Hum Genet; 2016 Nov; 61(11):951-958. PubMed ID: 27383656
[TBL] [Abstract][Full Text] [Related]
25. Phenotype-genotype correlation with Sanger sequencing identified retinol dehydrogenase 12 (RDH12) compound heterozygous variants in a Chinese family with Leber congenital amaurosis.
Li Y; Pan Q; Gu YS
J Zhejiang Univ Sci B; 2017 May; 18(5):421-429. PubMed ID: 28471114
[TBL] [Abstract][Full Text] [Related]
26. An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.
Bedoni N; Quinodoz M; Pinelli M; Cappuccio G; Torella A; Nigro V; Testa F; Simonelli F; ; Corton M; Lualdi S; Lanza F; Morana G; Ayuso C; Di Rocco M; Filocamo M; Banfi S; Brunetti-Pierri N; Superti-Furga A; Rivolta C
Hum Mol Genet; 2020 Aug; 29(13):2250-2260. PubMed ID: 32533184
[TBL] [Abstract][Full Text] [Related]
27. [Mutations in NMNAT1 cause Leber congenital amaurosis with severe macular and optic atrophy].
Kaplan J; Perrault I; Hanein S; Dollfus H; Rozet JM
Med Sci (Paris); 2013 Jan; 29(1):26-7. PubMed ID: 23351689
[No Abstract] [Full Text] [Related]
28. Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay.
Khan AO; Al-Mesfer S; Al-Turkmani S; Bergmann C; Bolz HJ
Br J Ophthalmol; 2014 Dec; 98(12):1724-8. PubMed ID: 24997176
[TBL] [Abstract][Full Text] [Related]
29. A NOVEL CASE SERIES OF NMNAT1-ASSOCIATED EARLY-ONSET RETINAL DYSTROPHY: EXTENDING THE PHENOTYPIC SPECTRUM.
Kumaran N; Robson AG; Michaelides M
Retin Cases Brief Rep; 2021 Mar; 15(2):139-144. PubMed ID: 30004997
[TBL] [Abstract][Full Text] [Related]
30. Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.
Mackay DS; Ocaka LA; Borman AD; Sergouniotis PI; Henderson RH; Moradi P; Robson AG; Thompson DA; Webster AR; Moore AT
Invest Ophthalmol Vis Sci; 2011 May; 52(6):3032-8. PubMed ID: 21310915
[TBL] [Abstract][Full Text] [Related]
31. Molecular genetics of Leber congenital amaurosis in Chinese: New data from 66 probands and mutation overview of 159 probands.
Xu Y; Xiao X; Li S; Jia X; Xin W; Wang P; Sun W; Huang L; Guo X; Zhang Q
Exp Eye Res; 2016 Aug; 149():93-99. PubMed ID: 27375279
[TBL] [Abstract][Full Text] [Related]
32. Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease.
Greenwald SH; Charette JR; Staniszewska M; Shi LY; Brown SDM; Stone L; Liu Q; Hicks WL; Collin GB; Bowl MR; Krebs MP; Nishina PM; Pierce EA
Am J Pathol; 2016 Jul; 186(7):1925-1938. PubMed ID: 27207593
[TBL] [Abstract][Full Text] [Related]
33. Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.
den Hollander AI; Lopez I; Yzer S; Zonneveld MN; Janssen IM; Strom TM; Hehir-Kwa JY; Veltman JA; Arends ML; Meitinger T; Musarella MA; van den Born LI; Fishman GA; Maumenee IH; Rohrschneider K; Cremers FP; Koenekoop RK
Invest Ophthalmol Vis Sci; 2007 Dec; 48(12):5690-8. PubMed ID: 18055821
[TBL] [Abstract][Full Text] [Related]
34. Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants.
Sasaki Y; Margolin Z; Borgo B; Havranek JJ; Milbrandt J
J Biol Chem; 2015 Jul; 290(28):17228-38. PubMed ID: 26018082
[TBL] [Abstract][Full Text] [Related]
35. Cone-rod dystrophy caused by a novel homozygous RPE65 mutation in Leber congenital amaurosis.
Jakobsson C; Othman IS; Munier FL; Schorderet DF; Abouzeid H
Klin Monbl Augenheilkd; 2014 Apr; 231(4):405-10. PubMed ID: 24771178
[TBL] [Abstract][Full Text] [Related]
36. A missense mutation in GUCY2D acts as a genetic modifier in RPE65-related Leber Congenital Amaurosis.
Silva E; Dharmaraj S; Li YY; Pina AL; Carter RC; Loyer M; Traboulsi E; Theodossiadis G; Koenekoop R; Sundin O; Maumenee I
Ophthalmic Genet; 2004 Sep; 25(3):205-17. PubMed ID: 15512997
[TBL] [Abstract][Full Text] [Related]
37. Whole Exome Sequencing in Eight Thai Patients With Leber Congenital Amaurosis Reveals Mutations in the CTNNA1 and CYP4V2 Genes.
Jinda W; Taylor TD; Suzuki Y; Thongnoppakhun W; Limwongse C; Lertrit P; Trinavarat A; Atchaneeyasakul LO
Invest Ophthalmol Vis Sci; 2017 Apr; 58(4):2413-2420. PubMed ID: 28453600
[TBL] [Abstract][Full Text] [Related]
38. [First North African observation of Leber congenital amaurosis secondary to CEP290 gene mutation].
Aboussair N; Berahou A; Perrault I; Elalaoui SC; Megzari A; Rozet JM; Kaplan J; Sefiani A
J Fr Ophtalmol; 2010 Feb; 33(2):117.e1-5. PubMed ID: 20056295
[TBL] [Abstract][Full Text] [Related]
39. Genetic profile and mutation spectrum of Leber congenital amaurosis in a larger Indian cohort using high throughput targeted re-sequencing.
Srikrupa NN; Srilekha S; Sen P; Arokiasamy T; Meenakshi S; Bhende M; Kapur S; Soumittra N
Clin Genet; 2018 Feb; 93(2):329-339. PubMed ID: 29068479
[TBL] [Abstract][Full Text] [Related]
40. Genetic screening of leber congenital amaurosis in a large consanguineous Iranian family.
Rezaie T; Karimi-Nejad MH; Meshkat MR; Sohbati S; Karimi-Nejad R; Najmabadi H; Sarfarazi M
Ophthalmic Genet; 2007 Dec; 28(4):224-8. PubMed ID: 18161624
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
