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 *

272 related articles for article (PubMed ID: 27886419)

  • 21. Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders.
    Al-Maawali A; Dupuis L; Blaser S; Heon E; Tarnopolsky M; Al-Murshedi F; Marshall CR; Paton T; Scherer SW; ; Roelofsen J; van Kuilenburg AB; Mendoza-Londono R
    Eur J Hum Genet; 2015 Mar; 23(3):310-6. PubMed ID: 24961627
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5).
    Kim HJ; Sohn KM; Shy ME; Krajewski KM; Hwang M; Park JH; Jang SY; Won HH; Choi BO; Hong SH; Kim BJ; Suh YL; Ki CS; Lee SY; Kim SH; Kim JW
    Am J Hum Genet; 2007 Sep; 81(3):552-8. PubMed ID: 17701900
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6.
    Rost S; Bach E; Neuner C; Nanda I; Dysek S; Bittner RE; Keller A; Bartsch O; Mlynski R; Haaf T; Müller CR; Kunstmann E
    Eur J Hum Genet; 2014 Feb; 22(2):208-15. PubMed ID: 23714752
    [TBL] [Abstract][Full Text] [Related]  

  • 24. A novel mutation in PRPS1 causes X-linked Charcot-Marie-Tooth disease-5.
    Meng L; Wang K; Lv H; Wang Z; Zhang W; Yuan Y
    Neuropathology; 2019 Oct; 39(5):342-347. PubMed ID: 31434166
    [TBL] [Abstract][Full Text] [Related]  

  • 25. X-linked Charcot-Marie-Tooth disease type 5 with recurrent weakness after febrile illness.
    Nishikura N; Yamagata T; Morimune T; Matsui J; Sokoda T; Sawai C; Sakaue Y; Higuchi Y; Hashiguchi A; Takashima H; Takeuchi Y; Maruo Y
    Brain Dev; 2019 Feb; 41(2):201-204. PubMed ID: 30177296
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.
    Arnett J; Emery SB; Kim TB; Boerst AK; Lee K; Leal SM; Lesperance MM
    Arch Otolaryngol Head Neck Surg; 2011 Jan; 137(1):54-9. PubMed ID: 21242547
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Exploration of molecular genetic etiology for Korean cochlear implantees with severe to profound hearing loss and its implication.
    Park JH; Kim NK; Kim AR; Rhee J; Oh SH; Koo JW; Nam JY; Park WY; Choi BY
    Orphanet J Rare Dis; 2014 Nov; 9():167. PubMed ID: 25373420
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Arts syndrome is caused by loss-of-function mutations in PRPS1.
    de Brouwer AP; Williams KL; Duley JA; van Kuilenburg AB; Nabuurs SB; Egmont-Petersen M; Lugtenberg D; Zoetekouw L; Banning MJ; Roeffen M; Hamel BC; Weaving L; Ouvrier RA; Donald JA; Wevers RA; Christodoulou J; van Bokhoven H
    Am J Hum Genet; 2007 Sep; 81(3):507-18. PubMed ID: 17701896
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene.
    Vona B; Lechno S; Hofrichter MA; Hopf S; Läig AK; Haaf T; Keilmann A; Zechner U; Bartsch O
    Ear Hear; 2016; 37(4):e238-46. PubMed ID: 26849169
    [TBL] [Abstract][Full Text] [Related]  

  • 30. A novel mutation in the SMPX gene associated with X-linked nonsyndromic sensorineural hearing loss in a Chinese family.
    Deng Y; Niu Z; Fan L; Ling J; Chen H; Cai X; Mei L; He C; Zhang X; Wen J; Li M; Li W; Li T; Sang S; Liu Y; Feng Y
    J Hum Genet; 2018 Jun; 63(6):723-730. PubMed ID: 29559740
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Recurrent de novo WFS1 pathogenic variants in Chinese sporadic patients with nonsyndromic sensorineural hearing loss.
    Guan J; Wang H; Lan L; Wu Y; Chen G; Zhao C; Wang D; Wang Q
    Mol Genet Genomic Med; 2020 Aug; 8(8):e1367. PubMed ID: 32567228
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Identification of a Novel Frameshift Variant of
    Jang JH; Oh J; Han JH; Park HR; Kim BJ; Lee S; Kim MY; Lee S; Oh DY; Choung YH; Choi BY
    Genet Test Mol Biomarkers; 2019 Jun; 23(6):423-427. PubMed ID: 31063410
    [No Abstract]   [Full Text] [Related]  

  • 33. Arts syndrome with a novel missense mutation in the PRPS1 gene: A case report.
    Maruyama K; Ogaya S; Kurahashi N; Umemura A; Yamada K; Hashiguchi A; Takashima H; Torres RJ; Aso K
    Brain Dev; 2016 Nov; 38(10):954-958. PubMed ID: 27256512
    [TBL] [Abstract][Full Text] [Related]  

  • 34. A novel MYH14 mutation in a Chinese family with autosomal dominant nonsyndromic hearing loss.
    Wang M; Zhou Y; Zhang F; Fan Z; Bai X; Wang H
    BMC Med Genet; 2020 Jul; 21(1):154. PubMed ID: 32711451
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Identification and Clinical Implications of Novel MYO15A Mutations in a Non-consanguineous Korean Family by Targeted Exome Sequencing.
    Chang MY; Kim AR; Kim NK; Lee C; Lee KY; Jeon WS; Koo JW; Oh SH; Park WY; Kim D; Choi BY
    Mol Cells; 2015 Sep; 38(9):781-8. PubMed ID: 26242193
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Discovery of CDH23 as a Significant Contributor to Progressive Postlingual Sensorineural Hearing Loss in Koreans.
    Kim BJ; Kim AR; Lee C; Kim SY; Kim NK; Chang MY; Rhee J; Park MH; Koo SK; Kim MY; Han JH; Oh SH; Park WY; Choi BY
    PLoS One; 2016; 11(10):e0165680. PubMed ID: 27792758
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Genetic analysis of TMPRSS3 gene in the Korean population with autosomal recessive nonsyndromic hearing loss.
    Lee J; Baek JI; Choi JY; Kim UK; Lee SH; Lee KY
    Gene; 2013 Dec; 532(2):276-80. PubMed ID: 23958653
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss.
    Sineni CJ; Yildirim-Baylan M; Guo S; Camarena V; Wang G; Tokgoz-Yilmaz S; Duman D; Bademci G; Tekin M
    Hum Genet; 2019 Oct; 138(10):1071-1075. PubMed ID: 31175426
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Identification of a Potential Founder Effect of a Novel
    Lee SY; Han JH; Kim BJ; Oh SH; Lee S; Oh DY; Choi BY
    Int J Mol Sci; 2019 Aug; 20(17):. PubMed ID: 31454969
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population.
    Kim SY; Kim AR; Kim NK; Kim MY; Jeon EH; Kim BJ; Han YE; Chang MY; Park WY; Choi BY
    J Transl Med; 2015 Aug; 13():263. PubMed ID: 26264712
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 14.