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 *

120 related articles for article (PubMed ID: 31922590)

  • 21. Ocular manifestations of Norrie disease.
    Mozo Cuadrado M; Tabuenca Del Barrio L; Zubicoa Enériz A; Antonia Ardanaz Aldave M
    J Fr Ophtalmol; 2020 May; 43(5):439-441. PubMed ID: 32381368
    [No Abstract]   [Full Text] [Related]  

  • 22. A novel contiguous deletion involving NDP, MAOB and EFHC2 gene in a patient with familial Norrie disease: bilateral blindness and leucocoria without other deficits.
    Jia B; Huang L; Chen Y; Liu S; Chen C; Xiong K; Song L; Zhou Y; Yang X; Zhong M
    J Genet; 2017 Dec; 96(6):1015-1020. PubMed ID: 29321361
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Norrie disease: first mutation report and prenatal diagnosis in an Indian family.
    Ghosh M; Sharma S; Shastri S; Arora S; Shukla R; Gupta N; Deka D; Kabra M
    Indian J Pediatr; 2012 Nov; 79(11):1529-31. PubMed ID: 22674248
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Identification of a variant in NDP associated with X-linked retinal dysplasia in the English cocker spaniel dog.
    Joyce H; Burmeister LM; Wright H; Fleming L; Oliver JAC; Mellersh C
    PLoS One; 2021; 16(5):e0251071. PubMed ID: 33945575
    [TBL] [Abstract][Full Text] [Related]  

  • 25. A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms.
    Lev D; Weigl Y; Hasan M; Gak E; Davidovich M; Vinkler C; Leshinsky-Silver E; Lerman-Sagie T; Watemberg N
    Am J Med Genet A; 2007 May; 143A(9):921-4. PubMed ID: 17334993
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Germline Mutations in CTNNB1 Associated With Syndromic FEVR or Norrie Disease.
    Sun W; Xiao X; Li S; Jia X; Wang P; Zhang Q
    Invest Ophthalmol Vis Sci; 2019 Jan; 60(1):93-97. PubMed ID: 30640974
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Co-segregation of Norrie disease and idiopathic pulmonary hypertension in a family with a microdeletion of the NDP region at Xp11.3-p11.4.
    Staropoli JF; Xin W; Sims KB
    J Med Genet; 2010 Nov; 47(11):786-90. PubMed ID: 20679667
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Norrie disease with a spontaneously shrinking choroid plexus abnormality: a case report.
    Younes ST; Shiflett JM; Weaver K; Smith A; Herrington B; Taylor C; Reddy K
    Ophthalmic Genet; 2021 Jun; 42(3):344-348. PubMed ID: 33641574
    [No Abstract]   [Full Text] [Related]  

  • 29. Differential diagnosis of Norrie disease and X-linked familial exudative vitreoretinopathy (XL-FEVR) based on clinical and molecular evaluation.
    Wawrocka A; Niedziela Z; Skorczyk-Werner A; Krawczynski MR
    Klin Oczna; 2016; 118(3):231-4. PubMed ID: 30088388
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Prenatal Diagnosis of a Case of Norrie Disease with Late Development of Bilateral Ocular Malformation.
    Wu LH; Chen LH; Xie H; Xie YJ
    Fetal Pediatr Pathol; 2017 Jun; 36(3):240-245. PubMed ID: 28394646
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Bilateral persistent fetal vasculature due to a mutation in the Norrie disease protein gene.
    Payabvash S; Anderson JS; Nascene DR
    Neuroradiol J; 2015 Dec; 28(6):623-7. PubMed ID: 26459204
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Clinical Exome Sequencing Identifies
    Zhao X; Gao C; Li L; Jiang L; Wei Y; Che F; Liu Q
    Genet Test Mol Biomarkers; 2022 Dec; 26(12):589-594. PubMed ID: 36577125
    [No Abstract]   [Full Text] [Related]  

  • 33. Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR.
    Riveiro-Alvarez R; Trujillo-Tiebas MJ; Gimenez-Pardo A; Garcia-Hoyos M; Cantalapiedra D; Lorda-Sanchez I; Rodriguez de Alba M; Ramos C; Ayuso C
    Mol Vis; 2005 Sep; 11():705-12. PubMed ID: 16163268
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Planned preterm delivery and treatment of retinal neovascularization in Norrie disease.
    Sisk RA; Hufnagel RB; Bandi S; Polzin WJ; Ahmed ZM
    Ophthalmology; 2014 Jun; 121(6):1312-3. PubMed ID: 24529712
    [No Abstract]   [Full Text] [Related]  

  • 35. Hedgehog regulates Norrie disease protein to drive neural progenitor self-renewal.
    McNeill B; Mazerolle C; Bassett EA; Mears AJ; Ringuette R; Lagali P; Picketts DJ; Paes K; Rice D; Wallace VA
    Hum Mol Genet; 2013 Mar; 22(5):1005-16. PubMed ID: 23201751
    [TBL] [Abstract][Full Text] [Related]  

  • 36. A novel missense Norrie disease mutation associated with a severe ocular phenotype.
    Khan AO; Shamsi FA; Al-Saif A; Kambouris M
    J Pediatr Ophthalmol Strabismus; 2004; 41(6):361-3. PubMed ID: 15609522
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Long-term consequences of developmental vascular defects on retinal vessel homeostasis and function in a mouse model of Norrie disease.
    Beck SC; Feng Y; Sothilingam V; Garcia Garrido M; Tanimoto N; Acar N; Shan S; Seebauer B; Berger W; Hammes HP; Seeliger MW
    PLoS One; 2017; 12(6):e0178753. PubMed ID: 28575130
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Novel mutation in TSPAN12 leads to autosomal recessive inheritance of congenital vitreoretinal disease with intra-familial phenotypic variability.
    Gal M; Levanon EY; Hujeirat Y; Khayat M; Pe'er J; Shalev S
    Am J Med Genet A; 2014 Dec; 164A(12):2996-3002. PubMed ID: 25250762
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Prenatal diagnosis of Norrie disease based on ultrasound findings.
    Dubucs C; Merveille M; Kessler S; Sevely A; Chassaing N; Calvas P
    Ultrasound Obstet Gynecol; 2019 Jul; 54(1):138-139. PubMed ID: 30125416
    [No Abstract]   [Full Text] [Related]  

  • 40. Molecular and clinical studies of X-linked deafness among Pakistani families.
    Waryah AM; Ahmed ZM; Bhinder MA; Choo DI; Sisk RA; Shahzad M; Khan SN; Friedman TB; Riazuddin S; Riazuddin S
    J Hum Genet; 2011 Jul; 56(7):534-40. PubMed ID: 21633365
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.