These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

152 related articles for article (PubMed ID: 31470097)

  • 21. Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform.
    Del Pozo-Valero M; Almoallem B; Dueñas Rey A; Mahieu Q; Van Heetvelde M; Jeddawi L; Bauwens M; De Baere E
    Clin Genet; 2024 Aug; 106(2):127-139. PubMed ID: 38468396
    [TBL] [Abstract][Full Text] [Related]  

  • 22. The pathogenicity of novel GUCY2D mutations in Leber congenital amaurosis 1 assessed by HPLC-MS/MS.
    Feng X; Wei T; Sun J; Luo Y; Huo Y; Yu P; Chen J; Wei X; Qi M; Ye Y
    PLoS One; 2020; 15(4):e0231115. PubMed ID: 32255808
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.
    Maria M; Ajmal M; Azam M; Waheed NK; Siddiqui SN; Mustafa B; Ayub H; Ali L; Ahmad S; Micheal S; Hussain A; Shah ST; Ali SH; Ahmed W; Khan YM; den Hollander AI; Haer-Wigman L; Collin RW; Khan MI; Qamar R; Cremers FP
    PLoS One; 2015; 10(3):e0119806. PubMed ID: 25775262
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Defining Outcomes for Clinical Trials of Leber Congenital Amaurosis Caused by GUCY2D Mutations.
    Jacobson SG; Cideciyan AV; Sumaroka A; Roman AJ; Charng J; Lu M; Choudhury S; Schwartz SB; Heon E; Fishman GA; Boye SE
    Am J Ophthalmol; 2017 May; 177():44-57. PubMed ID: 28212877
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis.
    Guo Y; Prokudin I; Yu C; Liang J; Xie Y; Flaherty M; Tian L; Crofts S; Wang F; Snyder J; Donaldson C; Abdel-Magid N; Vazquez L; Keating B; Hakonarson H; Wang J; Jamieson RV
    Ophthalmic Genet; 2015; 36(4):333-8. PubMed ID: 24547928
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy.
    Xu K; Xie Y; Sun T; Zhang X; Chen C; Li Y
    Br J Ophthalmol; 2020 Jul; 104(7):932-937. PubMed ID: 31630094
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Novel GUCY2D Variant (E843Q) at Mutation Hotspot Associated with Macular Dystrophy in a Japanese Patient.
    Takeda Y; Kubota D; Oishi N; Maruyama K; Gocho K; Yamaki K; Igarashi T; Takahashi H; Kameya S
    J Nippon Med Sch; 2020 May; 87(2):92-99. PubMed ID: 32009068
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families.
    Tayebi N; Akinrinade O; Khan MI; Hejazifar A; Dehghani A; Cremers FPM; Akhlaghi M
    Mol Vis; 2019; 25():106-117. PubMed ID: 30820146
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Functional study of two biochemically unusual mutations in
    Boye SL; Olshevskaya EV; Peshenko IV; McCullough KT; Boye SE; Dizhoor AM
    Mol Vis; 2016; 22():1342-1351. PubMed ID: 27881908
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Diagnostic application of clinical exome sequencing in Leber congenital amaurosis.
    Han J; Rim JH; Hwang IS; Kim J; Shin S; Lee ST; Choi JR
    Mol Vis; 2017; 23():649-659. PubMed ID: 28966547
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.
    Rodilla C; Martín-Merida I; Blanco-Kelly F; Trujillo-Tiebas MJ; Avila-Fernandez A; Riveiro-Alvarez R; Del Pozo-Valero M; Perea-Romero I; Swafiri ST; Zurita O; Villaverde C; López MÁ; Romero R; Iancu IF; Núñez-Moreno G; Jiménez-Rolando B; Martin-Gutierrez MP; Carreño E; Minguez P; García-Sandoval B; Ayuso C; Corton M
    Am J Ophthalmol; 2023 Oct; 254():87-103. PubMed ID: 37327959
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Leber congenital amaurosis caused by mutations in GUCY2D.
    Boye SE
    Cold Spring Harb Perspect Med; 2014 Sep; 5(1):a017350. PubMed ID: 25256176
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Phenotypic characterization of a Chinese family with autosomal dominant cone-rod dystrophy related to GUCY2D.
    Xu F; Dong F; Li H; Li X; Jiang R; Sui R
    Doc Ophthalmol; 2013 Jun; 126(3):233-40. PubMed ID: 23686677
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Mutation survey of known LCA genes and loci in the Saudi Arabian population.
    Li Y; Wang H; Peng J; Gibbs RA; Lewis RA; Lupski JR; Mardon G; Chen R
    Invest Ophthalmol Vis Sci; 2009 Mar; 50(3):1336-43. PubMed ID: 18936139
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.
    Yzer S; Leroy BP; De Baere E; de Ravel TJ; Zonneveld MN; Voesenek K; Kellner U; Ciriano JP; de Faber JT; Rohrschneider K; Roepman R; den Hollander AI; Cruysberg JR; Meire F; Casteels I; van Moll-Ramirez NG; Allikmets R; van den Born LI; Cremers FP
    Invest Ophthalmol Vis Sci; 2006 Mar; 47(3):1167-76. PubMed ID: 16505055
    [TBL] [Abstract][Full Text] [Related]  

  • 36. GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies.
    Bouzia Z; Georgiou M; Hull S; Robson AG; Fujinami K; Rotsos T; Pontikos N; Arno G; Webster AR; Hardcastle AJ; Fiorentino A; Michaelides M
    Am J Ophthalmol; 2020 Feb; 210():59-70. PubMed ID: 31704230
    [TBL] [Abstract][Full Text] [Related]  

  • 37. The genetic profile of Leber congenital amaurosis in an Australian cohort.
    Thompson JA; De Roach JN; McLaren TL; Montgomery HE; Hoffmann LH; Campbell IR; Chen FK; Mackey DA; Lamey TM
    Mol Genet Genomic Med; 2017 Nov; 5(6):652-667. PubMed ID: 29178642
    [TBL] [Abstract][Full Text] [Related]  

  • 38. The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D Gene.
    Hahn LC; Georgiou M; Almushattat H; van Schooneveld MJ; de Carvalho ER; Wesseling NL; Ten Brink JB; Florijn RJ; Lissenberg-Witte BI; Strubbe I; van Cauwenbergh C; de Zaeytijd J; Walraedt S; de Baere E; Mukherjee R; McKibbin M; Meester-Smoor MA; Thiadens AAHJ; Al-Khuzaei S; Akyol E; Lotery AJ; van Genderen MM; Ossewaarde-van Norel J; van den Born LI; Hoyng CB; Klaver CCW; Downes SM; Bergen AA; Leroy BP; Michaelides M; Boon CJF
    Ophthalmol Retina; 2022 Aug; 6(8):711-722. PubMed ID: 35314386
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.
    Perrault I; Estrada-Cuzcano A; Lopez I; Kohl S; Li S; Testa F; Zekveld-Vroon R; Wang X; Pomares E; Andorf J; Aboussair N; Banfi S; Delphin N; den Hollander AI; Edelson C; Florijn R; Jean-Pierre M; Leowski C; Megarbane A; Villanueva C; Flores B; Munnich A; Ren H; Zobor D; Bergen A; Chen R; Cremers FP; Gonzalez-Duarte R; Koenekoop RK; Simonelli F; Stone E; Wissinger B; Zhang Q; Kaplan J; Rozet JM
    PLoS One; 2013; 8(1):e51622. PubMed ID: 23308101
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis.
    Pasadhika S; Fishman GA; Stone EM; Lindeman M; Zelkha R; Lopez I; Koenekoop RK; Shahidi M
    Invest Ophthalmol Vis Sci; 2010 May; 51(5):2608-14. PubMed ID: 19959640
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.