BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

163 related articles for article (PubMed ID: 31939038)

  • 21. Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy.
    Hayashi T; Hosono K; Kurata K; Katagiri S; Mizobuchi K; Ueno S; Kondo M; Nakano T; Hotta Y
    Doc Ophthalmol; 2020 Apr; 140(2):147-157. PubMed ID: 31583501
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Novel truncating mutation in CACNA1F in a young male patient diagnosed with optic atrophy.
    Pasutto F; Ekici A; Reis A; Kremers J; Huchzermeyer C
    Ophthalmic Genet; 2018 Dec; 39(6):741-748. PubMed ID: 30260717
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Renal coloboma syndrome.
    Dureau P; Attie-Bitach T; Salomon R; Bettembourg O; Amiel J; Uteza Y; Dufier JL
    Ophthalmology; 2001 Oct; 108(10):1912-6. PubMed ID: 11581073
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Clinical reassessments and whole-exome sequencing uncover novel
    Chowdhury S; Duvesh R; Kumaran M; Anjanamurthy R; Kumar J; Vanniarajan A; Devarajan B; Sundaresan P
    Ophthalmic Genet; 2022 Apr; 43(2):191-200. PubMed ID: 34751623
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases.
    Kim MS; Joo K; Seong MW; Kim MJ; Park KH; Park SS; Woo SJ
    J Korean Med Sci; 2019 Jun; 34(21):e161. PubMed ID: 31144483
    [TBL] [Abstract][Full Text] [Related]  

  • 26. A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing.
    Zhang L; Peng Y; Ouyang P; Liang Y; Zeng H; Wang N; Duan X; Shi J
    BMC Med Genet; 2019 Jun; 20(1):105. PubMed ID: 31185933
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Alpk1 Sensitizes Pancreatic Beta Cells to Cytokine-Induced Apoptosis
    Ding F; Luo X; Tu Y; Duan X; Liu J; Jia L; Zheng P
    Front Immunol; 2021; 12():705751. PubMed ID: 34621265
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Advanced molecular approaches pave the road to a clear-cut diagnosis of hereditary retinal dystrophies.
    Ravesh Z; Dianatpour M; Fardaei M; Taghdiri M; Hashemi-Gorji F; Yassaee VR; Miryounesi M
    Mol Vis; 2018; 24():679-689. PubMed ID: 30416334
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy.
    Hull S; Arno G; Robson AG; Broadgate S; Plagnol V; McKibbin M; Halford S; Michaelides M; Holder GE; Moore AT; Khan KN; Webster AR
    JAMA Ophthalmol; 2016 Sep; 134(9):992-1000. PubMed ID: 27386845
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Gene mutation and clinical analysis of nephronophthisis diagnosed using whole exome sequencing: Experience from China
.
    Tang X; Xu H; Shen Q; Li G; Rao J; Chen J; Zhai Y; Miao Q
    Clin Nephrol; 2019 Aug; 92(2):89-94. PubMed ID: 31131822
    [TBL] [Abstract][Full Text] [Related]  

  • 31. The novel S59P mutation in the TNFRSF1A gene identified in an adult onset TNF receptor associated periodic syndrome (TRAPS) constitutively activates NF-κB pathway.
    Greco E; Aita A; Galozzi P; Gava A; Sfriso P; Negm OH; Tighe P; Caso F; Navaglia F; Dazzo E; De Bortoli M; Rampazzo A; Obici L; Donadei S; Merlini G; Plebani M; Todd I; Basso D; Punzi L
    Arthritis Res Ther; 2015 Apr; 17(1):93. PubMed ID: 25888769
    [TBL] [Abstract][Full Text] [Related]  

  • 32. ALPK1- and TIFA-Dependent Innate Immune Response Triggered by the Helicobacter pylori Type IV Secretion System.
    Zimmermann S; Pfannkuch L; Al-Zeer MA; Bartfeld S; Koch M; Liu J; Rechner C; Soerensen M; Sokolova O; Zamyatina A; Kosma P; Mäurer AP; Glowinski F; Pleissner KP; Schmid M; Brinkmann V; Karlas A; Naumann M; Rother M; Machuy N; Meyer TF
    Cell Rep; 2017 Sep; 20(10):2384-2395. PubMed ID: 28877472
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Unique Variant Spectrum in a Jordanian Cohort with Inherited Retinal Dystrophies.
    Azab B; Dardas Z; Aburizeg D; Al-Bdour M; Abu-Ameerh M; Saleh T; Barham R; Maswadi R; Ababneh NA; Alsalem M; Zouk H; Amr S; Awidi A
    Genes (Basel); 2021 Apr; 12(4):. PubMed ID: 33921607
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Incomplete penetrance of
    Chapi M; Sabbaghi H; Suri F; Alehabib E; Rahimi-Aliabadi S; Jamali F; Jamshidi J; Emamalizadeh B; Darvish H; Mirrahimi M; Ahmadieh H; Daftarian N
    Ophthalmic Genet; 2019 Jun; 40(3):259-266. PubMed ID: 31215831
    [No Abstract]   [Full Text] [Related]  

  • 35. Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.
    Coppieters F; Van Schil K; Bauwens M; Verdin H; De Jaegher A; Syx D; Sante T; Lefever S; Abdelmoula NB; Depasse F; Casteels I; de Ravel T; Meire F; Leroy BP; De Baere E
    Genet Med; 2014 Sep; 16(9):671-80. PubMed ID: 24625443
    [TBL] [Abstract][Full Text] [Related]  

  • 36. PHENOTYPE-GUIDED GENETIC TESTING OF PEDIATRIC INHERITED RETINAL DISEASE IN THE UNITED ARAB EMIRATES.
    Khan AO
    Retina; 2020 Sep; 40(9):1829-1837. PubMed ID: 31725702
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia.
    Katagiri S; Hayashi T; Yoshitake K; Akahori M; Ikeo K; Gekka T; Tsuneoka H; Iwata T
    Ophthalmic Genet; 2016; 37(1):68-75. PubMed ID: 25113443
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39. Novel homozygous in-frame deletion of
    Kubota D; Oishi N; Gocho K; Kikuchi S; Yamaki K; Igarashi T; Takahashi H; Ishida N; Iwata T; Mizota A; Kameya S
    Ophthalmic Genet; 2019 Oct; 40(5):480-487. PubMed ID: 31696758
    [No Abstract]   [Full Text] [Related]  

  • 40. Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies.
    Rehman AU; Sepahi N; Bedoni N; Ravesh Z; Salmaninejad A; Cancellieri F; Peter VG; Quinodoz M; Mojarrad M; Pasdar A; Asad AG; Ghalamkari S; Piran M; Piran M; Superti-Furga A; Rivolta C
    Sci Rep; 2021 Sep; 11(1):19332. PubMed ID: 34588515
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.