BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

213 related articles for article (PubMed ID: 15060842)

  • 21. Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I.
    Dawkins JL; Hulme DJ; Brahmbhatt SB; Auer-Grumbach M; Nicholson GA
    Nat Genet; 2001 Mar; 27(3):309-12. PubMed ID: 11242114
    [TBL] [Abstract][Full Text] [Related]  

  • 22. The evolutionarily conserved transcription factor PRDM12 controls sensory neuron development and pain perception.
    Nagy V; Cole T; Van Campenhout C; Khoung TM; Leung C; Vermeiren S; Novatchkova M; Wenzel D; Cikes D; Polyansky AA; Kozieradzki I; Meixner A; Bellefroid EJ; Neely GG; Penninger JM
    Cell Cycle; 2015; 14(12):1799-808. PubMed ID: 25891934
    [TBL] [Abstract][Full Text] [Related]  

  • 23. New HSN2 mutation in Japanese patient with hereditary sensory and autonomic neuropathy type 2.
    Takagi M; Ozawa T; Hara K; Naruse S; Ishihara T; Shimbo J; Igarashi S; Tanaka K; Onodera O; Nishizawa M
    Neurology; 2006 Apr; 66(8):1251-2. PubMed ID: 16636245
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Oral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and review of the literature.
    Elhennawy K; Reda S; Finke C; Graul-Neumann L; Jost-Brinkmann PG; Bartzela T
    J Med Case Rep; 2017 Aug; 11(1):233. PubMed ID: 28807049
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Autosomal recessive mutilating sensory neuropathy with spastic paraplegia maps to chromosome 5p15.31-14.1.
    Bouhouche A; Benomar A; Bouslam N; Ouazzani R; Chkili T; Yahyaoui M
    Eur J Hum Genet; 2006 Feb; 14(2):249-52. PubMed ID: 16333315
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.
    Senderek J; Bergmann C; Stendel C; Kirfel J; Verpoorten N; De Jonghe P; Timmerman V; Chrast R; Verheijen MH; Lemke G; Battaloglu E; Parman Y; Erdem S; Tan E; Topaloglu H; Hahn A; Müller-Felber W; Rizzuto N; Fabrizi GM; Stuhrmann M; Rudnik-Schöneborn S; Züchner S; Michael Schröder J; Buchheim E; Straub V; Klepper J; Huehne K; Rautenstrauss B; Büttner R; Nelis E; Zerres K
    Am J Hum Genet; 2003 Nov; 73(5):1106-19. PubMed ID: 14574644
    [TBL] [Abstract][Full Text] [Related]  

  • 27. A locus for autosomal dominant hereditary spastic ataxia, SAX1, maps to chromosome 12p13.
    Meijer IA; Hand CK; Grewal KK; Stefanelli MG; Ives EJ; Rouleau GA
    Am J Hum Genet; 2002 Mar; 70(3):763-9. PubMed ID: 11774073
    [TBL] [Abstract][Full Text] [Related]  

  • 28. WNK1/HSN2 founder mutation in patients with hereditary sensory and autonomic neuropathy: A Japanese cohort study.
    Yuan JH; Hashiguchi A; Yoshimura A; Sakai N; Takahashi MP; Ueda T; Taniguchi A; Okamoto S; Kanazawa N; Yamamoto Y; Saigoh K; Kusunoki S; Ando M; Hiramatsu Y; Okamoto Y; Takashima H
    Clin Genet; 2017 Dec; 92(6):659-663. PubMed ID: 28422281
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene.
    Lee MJ; Stephenson DA; Groves MJ; Sweeney MG; Davis MB; An SF; Houlden H; Salih MA; Timmerman V; de Jonghe P; Auer-Grumbach M; Di Maria E; Scaravilli F; Wood NW; Reilly MM
    Hum Mol Genet; 2003 Aug; 12(15):1917-25. PubMed ID: 12874111
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Genetics of congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV. Clinical, biological and molecular aspects of mutations in TRKA(NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor.
    Indo Y
    Clin Auton Res; 2002 May; 12 Suppl 1():I20-32. PubMed ID: 12102460
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.
    Davidson G; Murphy S; Polke J; Laura M; Salih M; Muntoni F; Blake J; Brandner S; Davies N; Horvath R; Price S; Donaghy M; Roberts M; Foulds N; Ramdharry G; Soler D; Lunn M; Manji H; Davis M; Houlden H; Reilly M
    J Neurol; 2012 Aug; 259(8):1673-85. PubMed ID: 22302274
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Polyneuropathy in a young Belgian patient: A novel heterozygous mutation in the WNK1/HSN2 gene.
    de Filette J; Hasaerts D; Seneca S; Gheldof A; Stouffs K; Keymolen K; Velkeniers B
    Neurol Genet; 2016 Feb; 2(1):e42. PubMed ID: 27066579
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Carriers of recessive WNK1/HSN2 mutations for hereditary sensory and autonomic neuropathy type 2 (HSAN2) are more sensitive to thermal stimuli.
    Loggia ML; Bushnell MC; Tétreault M; Thiffault I; Bhérer C; Mohammed NK; Kuchinad AA; Laferrière A; Dicaire MJ; Loisel L; Mogil JS; Brais B
    J Neurosci; 2009 Feb; 29(7):2162-6. PubMed ID: 19228968
    [TBL] [Abstract][Full Text] [Related]  

  • 34. A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24.
    Kok C; Kennerson ML; Spring PJ; Ing AJ; Pollard JD; Nicholson GA
    Am J Hum Genet; 2003 Sep; 73(3):632-7. PubMed ID: 12870133
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Mutant WD-repeat protein in triple-A syndrome.
    Tullio-Pelet A; Salomon R; Hadj-Rabia S; Mugnier C; de Laet MH; Chaouachi B; Bakiri F; Brottier P; Cattolico L; Penet C; Bégeot M; Naville D; Nicolino M; Chaussain JL; Weissenbach J; Munnich A; Lyonnet S
    Nat Genet; 2000 Nov; 26(3):332-5. PubMed ID: 11062474
    [TBL] [Abstract][Full Text] [Related]  

  • 36. [Mutations in the HSN2 exon of WNK1 cause hereditary sensory neuropathy type II].
    Rivière JB; Dion P; Shekarabi M; Girard N; Faivre L; Lafrenière RG; Samuels M; Rouleau GA
    Med Sci (Paris); 2009 Mar; 25(3):235-8. PubMed ID: 19361385
    [No Abstract]   [Full Text] [Related]  

  • 37. Identification of a Novel Homozygous Mutation in
    Ebrahimi AH; Bolhassani M; Zarei MR; Heidari M; ArdeshirDavani A; Mehrtash AH; Shiri Z; Heidari M; Soleyman-Nejad M; Taskhiri MH; Norouzbeigi A; Heidari M
    Arch Iran Med; 2024 Apr; 27(4):223-226. PubMed ID: 38685849
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene.
    Guilford P; Ayadi H; Blanchard S; Chaib H; Le Paslier D; Weissenbach J; Drira M; Petit C
    Hum Mol Genet; 1994 Jun; 3(6):989-93. PubMed ID: 7951250
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB63 to chromosome 11q13.3-q13.4.
    Tlili A; Masmoudi S; Dhouib H; Bouaziz S; Rebeh IB; Chouchen J; Turki K; Benzina Z; Charfedine I; Drira M; Ayadi H
    Ann Hum Genet; 2007 Mar; 71(Pt 2):271-5. PubMed ID: 17166180
    [TBL] [Abstract][Full Text] [Related]  

  • 40. CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene.
    Danciger M; Hendrickson J; Lyon J; Toomes C; McHale JC; Fishman GA; Inglehearn CF; Jacobson SG; Farber DB
    Invest Ophthalmol Vis Sci; 2001 Oct; 42(11):2458-65. PubMed ID: 11581183
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.