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 *

155 related articles for article (PubMed ID: 37107710)

  • 21. The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis.
    Weleber RG; Michaelides M; Trzupek KM; Stover NB; Stone EM
    Invest Ophthalmol Vis Sci; 2011 Jan; 52(1):292-302. PubMed ID: 20811047
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy.
    Khan AO; Bolz HJ; Bergmann C
    J AAPOS; 2014 Apr; 18(2):203-5. PubMed ID: 24698627
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Novel
    Smirnov V; Grunewald O; Muller J; Zeitz C; Obermaier CD; Devos A; Pelletier V; Bocquet B; Andrieu C; Bacquet JL; Lebredonchel E; Mohand-Saïd S; Defoort-Dhellemmes S; Sahel JA; Dollfus H; Zanlonghi X; Audo I; Meunier I; Boulanger-Scemama E; Dhaenens CM
    Int J Mol Sci; 2021 Jun; 22(12):. PubMed ID: 34203883
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Early onset flecked retinal dystrophy associated with new compound heterozygous
    Katagiri S; Hosono K; Hayashi T; Kurata K; Mizobuchi K; Matsuura T; Yoshitake K; Iwata T; Nakano T; Hotta Y
    Mol Vis; 2018; 24():286-296. PubMed ID: 29681726
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.
    Bocquet B; Lacroux A; Surget MO; Baudoin C; Marquette V; Manes G; Hebrard M; Sénéchal A; Delettre C; Roux AF; Claustres M; Dhaenens CM; Rozet JM; Perrault I; Bonnefont JP; Kaplan J; Dollfus H; Amati-Bonneau P; Bonneau D; Reynier P; Audo I; Zeitz C; Sahel JA; Paquis-Flucklinger V; Calvas P; Arveiler B; Kohl S; Wissinger B; Blanchet C; Meunier I; Hamel CP
    Ophthalmic Epidemiol; 2013; 20(1):13-25. PubMed ID: 23350551
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
    Mackay DS; Borman AD; Sui R; van den Born LI; Berson EL; Ocaka LA; Davidson AE; Heckenlively JR; Branham K; Ren H; Lopez I; Maria M; Azam M; Henkes A; Blokland E; Qamar R; Webster AR; Cremers FPM; Moore AT; Koenekoop RK; ; Andreasson S; de Baere E; Bennett J; Chader GJ; Berger W; Golovleva I; Greenberg J; den Hollander AI; Klaver CCW; Klevering BJ; Lorenz B; Preising MN; Ramsear R; Roberts L; Roepman R; Rohrschneider K; Wissinger B
    Hum Mutat; 2013 Nov; 34(11):1537-1546. PubMed ID: 23946133
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Molecular and phenotypic investigation of a New Zealand cohort of childhood-onset retinal dystrophy.
    Hull S; Kiray G; Chiang JP; Vincent AL
    Am J Med Genet C Semin Med Genet; 2020 Sep; 184(3):708-717. PubMed ID: 32856788
    [TBL] [Abstract][Full Text] [Related]  

  • 28. The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes.
    Motta FL; Salles MV; Costa KA; Filippelli-Silva R; Martin RP; Sallum JMF
    Sci Rep; 2017 Aug; 7(1):8654. PubMed ID: 28819299
    [TBL] [Abstract][Full Text] [Related]  

  • 29. [Molecular exploration of the R91W (RPE65 gene) in Tunisian patients with early onset retinal dystrophy and early onset retinitis pigmentosa].
    Chouchene I; Largueche L; Derouiche K; Mabrouk S; Abdelhak S; El Matri L
    Tunis Med; 2015 Jul; 93(7):445-8. PubMed ID: 26757501
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects.
    Janecke AR; Liu X; Adam R; Punuru S; Viestenz A; Strauß V; Laass M; Sanchez E; Adachi R; Schatz MP; Saboo US; Mittal N; Rohrschneider K; Escher J; Ganesh A; Al Zuhaibi S; Al Murshedi F; AlSaleem B; Alfadhel M; Al Sinani S; Alkuraya FS; Huber LA; Müller T; Heidelberger R; Janz R
    Hum Genet; 2021 Aug; 140(8):1143-1156. PubMed ID: 33974130
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency.
    Yang L; Fujinami K; Ueno S; Kuniyoshi K; Hayashi T; Kondo M; Mizota A; Naoi N; Shinoda K; Kameya S; Fujinami-Yokokawa Y; Liu X; Arno G; Pontikos N; Kominami T; Terasaki H; Sakuramoto H; Katagiri S; Mizobuchi K; Nakamura N; Mawatari G; Kurihara T; Tsubota K; Miyake Y; Yoshitake K; Iwata T; Tsunoda K;
    Sci Rep; 2020 Mar; 10(1):5497. PubMed ID: 32218477
    [TBL] [Abstract][Full Text] [Related]  

  • 32. SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance.
    Jurkute N; D'Esposito F; Robson AG; Pitceathly RDS; Cordeiro F; Raymond FL; Moore AT; Michaelides M; Yu-Wai-Man P; Webster AR; Arno G;
    Invest Ophthalmol Vis Sci; 2021 Dec; 62(15):12. PubMed ID: 34905022
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1-related fundus phenotype.
    Khan AO; Budde BS; Nürnberg P; Kawalia A; Lenzner S; Bolz HJ
    Clin Genet; 2018 Jan; 93(1):149-154. PubMed ID: 28369829
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy.
    Bodenbender JP; Marino V; Bethge L; Stingl K; Haack TB; Biskup S; Kohl S; Kühlewein L; Dell'Orco D; Weisschuh N
    Int J Mol Sci; 2023 Jan; 24(3):. PubMed ID: 36769033
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Exome sequencing and electro-clinical features in pediatric patients with very early-onset retinal dystrophies: A cohort study.
    Suppiej A; Ceccato C; Maritan V; Cermakova I; Colavito D; Leon A
    Eur J Paediatr Neurol; 2021 Mar; 31():1-9. PubMed ID: 33529788
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Juvenile Onset Splenomegaly and Oculopathy Due to Germline Mutation in ALPK1.
    Zhong L; Wang J; Wang W; Wang L; Quan M; Tang X; Gou L; Wei M; Xiao J; Zhang T; Sui R; Zhou Q; Song H
    J Clin Immunol; 2020 Feb; 40(2):350-358. PubMed ID: 31939038
    [TBL] [Abstract][Full Text] [Related]  

  • 37. The Structural Abnormalities Are Deeply Involved in the Cause of
    Torii K; Nishina S; Morikawa H; Mizobuchi K; Takayama M; Tachibana N; Kurata K; Hikoya A; Sato M; Nakano T; Fukami M; Azuma N; Hayashi T; Saitsu H; Hotta Y
    Int J Mol Sci; 2023 Sep; 24(18):. PubMed ID: 37761981
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Early-onset retinal dystrophy and chronic dermatitis in a girl with an undiagnosed congenital disorder of glycosylation (SRD5A3-CDG).
    Khan AO
    Ophthalmic Genet; 2018 Oct; 39(5):628-630. PubMed ID: 30019980
    [TBL] [Abstract][Full Text] [Related]  

  • 39. RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patients.
    Lopez-Rodriguez R; Lantero E; Blanco-Kelly F; Avila-Fernandez A; Martin Merida I; Del Pozo-Valero M; Perea-Romero I; Zurita O; Jiménez-Rolando B; Swafiri ST; Riveiro-Alvarez R; Trujillo-Tiebas MJ; Carreño Salas E; García-Sandoval B; Corton M; Ayuso C
    Exp Eye Res; 2021 Nov; 212():108761. PubMed ID: 34492281
    [TBL] [Abstract][Full Text] [Related]  

  • 40. [Genotype screening of retinal dystrophies in the Japanese population using a microarray].
    Ogino K; Oishi A; Makiyama Y; Nakagawa S; Kurimoto M; Otani A; Yoshimura N
    Nippon Ganka Gakkai Zasshi; 2013 Jan; 117(1):12-8. PubMed ID: 23424971
    [TBL] [Abstract][Full Text] [Related]  

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