155 related articles for article (PubMed ID: 33907372)
1. A novel homozygous missense mutation p.P388S in
Woodard DR; Xing C; Ganne P; Liang H; Mahindrakar A; Sankurathri C; Hulleman JD; Mootha VV
Mol Vis; 2021; 27():179-190. PubMed ID: 33907372
[TBL] [Abstract][Full Text] [Related]
2. Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.
Roosing S; van den Born LI; Hoyng CB; Thiadens AA; de Baere E; Collin RW; Koenekoop RK; Leroy BP; van Moll-Ramirez N; Venselaar H; Riemslag FC; Cremers FP; Klaver CC; den Hollander AI
Ophthalmology; 2013 Jun; 120(6):1239-46. PubMed ID: 23499059
[TBL] [Abstract][Full Text] [Related]
3. A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family.
Aziz N; Ullah M; Rashid A; Hussain Z; Shah K; Awan A; Khan M; Ullah I; Rehman AU
BMC Ophthalmol; 2023 Mar; 23(1):116. PubMed ID: 36959549
[TBL] [Abstract][Full Text] [Related]
4. Association of pathogenic mutations in TULP1 with retinitis pigmentosa in consanguineous Pakistani families.
Iqbal M; Naeem MA; Riazuddin SA; Ali S; Farooq T; Qazi ZA; Khan SN; Husnain T; Riazuddin S; Sieving PA; Hejtmancik JF; Riazuddin S
Arch Ophthalmol; 2011 Oct; 129(10):1351-7. PubMed ID: 21987678
[TBL] [Abstract][Full Text] [Related]
5. Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa.
Ajmal M; Khan MI; Micheal S; Ahmed W; Shah A; Venselaar H; Bokhari H; Azam A; Waheed NK; Collin RW; den Hollander AI; Qamar R; Cremers FP
Mol Vis; 2012; 18():1226-37. PubMed ID: 22665969
[TBL] [Abstract][Full Text] [Related]
6. Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa.
den Hollander AI; van Lith-Verhoeven JJ; Arends ML; Strom TM; Cremers FP; Hoyng CB
Arch Ophthalmol; 2007 Jul; 125(7):932-5. PubMed ID: 17620573
[TBL] [Abstract][Full Text] [Related]
7. Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa.
Kannabiran C; Singh H; Sahini N; Jalali S; Mohan G
Mol Vis; 2012; 18():1165-74. PubMed ID: 22605927
[TBL] [Abstract][Full Text] [Related]
8. Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosa.
Ksantini M; Lafont E; Bocquet B; Meunier I; Hamel CP
Eur J Ophthalmol; 2012; 22(4):647-53. PubMed ID: 22180149
[TBL] [Abstract][Full Text] [Related]
9. Novel REEP6 gene mutation associated with autosomal recessive retinitis pigmentosa.
Lin Y; Xu CL; Velez G; Yang J; Tanaka AJ; Breazzano MP; Mahajan VB; Sparrow JR; Tsang SH
Doc Ophthalmol; 2020 Feb; 140(1):67-75. PubMed ID: 31538292
[TBL] [Abstract][Full Text] [Related]
10. A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa.
den Hollander AI; McGee TL; Ziviello C; Banfi S; Dryja TP; Gonzalez-Fernandez F; Ghosh D; Berson EL
Invest Ophthalmol Vis Sci; 2009 Apr; 50(4):1864-72. PubMed ID: 19074801
[TBL] [Abstract][Full Text] [Related]
11. Clinical and genetic investigations of three Moroccan families with retinitis pigmentosa phenotypes.
Bouzidi A; Charif M; Bouzidi A; Amalou G; Kandil M; Barakat A; Lenaers G
Mol Vis; 2021; 27():17-25. PubMed ID: 33633436
[TBL] [Abstract][Full Text] [Related]
12. Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.
Mataftsi A; Schorderet DF; Chachoua L; Boussalah M; Nouri MT; Barthelmes D; Borruat FX; Munier FL
Invest Ophthalmol Vis Sci; 2007 Nov; 48(11):5160-7. PubMed ID: 17962469
[TBL] [Abstract][Full Text] [Related]
13. CRB2 mutation causes autosomal recessive retinitis pigmentosa.
Chen X; Jiang C; Yang D; Sun R; Wang M; Sun H; Xu M; Zhou L; Chen M; Xie P; Yan B; Liu Q; Zhao C
Exp Eye Res; 2019 Mar; 180():164-173. PubMed ID: 30593785
[TBL] [Abstract][Full Text] [Related]
14. Identification of CRB1 mutations in two Chinese consanguineous families exhibiting autosomal recessive retinitis pigmentosa.
Guo X; Li J; Wang Q; Shu Y; Wang J; Chen L; Zhang H; Shi Y; Yang J; Lu F; Jiang L; Qu C; Gong B
Mol Med Rep; 2019 Sep; 20(3):2922-2928. PubMed ID: 31322236
[TBL] [Abstract][Full Text] [Related]
15. A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa.
Tiab L; Largueche L; Chouchane I; Derouiche K; Munier FL; El Matri L; Schorderet DF
Mol Vis; 2013; 19():829-34. PubMed ID: 23592920
[TBL] [Abstract][Full Text] [Related]
16. Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.
Ullah I; Kabir F; Iqbal M; Gottsch CB; Naeem MA; Assir MZ; Khan SN; Akram J; Riazuddin S; Ayyagari R; Hejtmancik JF; Riazuddin SA
Mol Vis; 2016; 22():797-815. PubMed ID: 27440997
[TBL] [Abstract][Full Text] [Related]
17. A TULP1 founder mutation, p.Gln301*, underlies a recognisable congenital rod-cone dystrophy phenotype on the Arabian Peninsula.
Khan AO; Bergmann C; Eisenberger T; Bolz HJ
Br J Ophthalmol; 2015 Apr; 99(4):488-92. PubMed ID: 25342276
[TBL] [Abstract][Full Text] [Related]
18. Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects.
Kimchi A; Khateb S; Wen R; Guan Z; Obolensky A; Beryozkin A; Kurtzman S; Blumenfeld A; Pras E; Jacobson SG; Ben-Yosef T; Newman H; Sharon D; Banin E
Ophthalmology; 2018 May; 125(5):725-734. PubMed ID: 29276052
[TBL] [Abstract][Full Text] [Related]
19. A novel start codon mutation of the MERTK gene in a patient with retinitis pigmentosa.
Jinda W; Poungvarin N; Taylor TD; Suzuki Y; Thongnoppakhun W; Limwongse C; Lertrit P; Suriyaphol P; Atchaneeyasakul LO
Mol Vis; 2016; 22():342-51. PubMed ID: 27122965
[TBL] [Abstract][Full Text] [Related]
20. Whole exome sequencing identifies a novel NRL mutation in a Chinese family with autosomal dominant retinitis pigmentosa.
Gao M; Zhang S; Liu C; Qin Y; Archacki S; Jin L; Wang Y; Liu F; Chen J; Liu Y; Wang J; Huang M; Liao S; Tang Z; Guo AY; Jiang F; Liu M
Mol Vis; 2016; 22():234-42. PubMed ID: 27081294
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
