BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

277 related articles for article (PubMed ID: 12975303)

  • 21. A novel autosomal dominant distal myopathy with early respiratory failure: clinico-pathologic characteristics and exclusion of linkage to candidate genetic loci.
    Chinnery PF; Johnson MA; Walls TJ; Gibson GJ; Fawcett PR; Jamieson S; Fulthorpe JJ; Cullen M; Hudgson P; Bushby KM
    Ann Neurol; 2001 Apr; 49(4):443-52. PubMed ID: 11310621
    [TBL] [Abstract][Full Text] [Related]  

  • 22. An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene.
    Kapoor A; Satishchandra P; Ratnapriya R; Reddy R; Kadandale J; Shankar SK; Anand A
    Ann Neurol; 2008 Aug; 64(2):158-67. PubMed ID: 18756473
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acid protein gene.
    Stumpf E; Masson H; Duquette A; Berthelet F; McNabb J; Lortie A; Lesage J; Montplaisir J; Brais B; Cossette P
    Arch Neurol; 2003 Sep; 60(9):1307-12. PubMed ID: 12975300
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Identification of a novel locus on 2q for autosomal dominant high-grade myopia.
    Paluru PC; Nallasamy S; Devoto M; Rappaport EF; Young TL
    Invest Ophthalmol Vis Sci; 2005 Jul; 46(7):2300-7. PubMed ID: 15980214
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Early onset chromosome 14-linked distal myopathy (Laing).
    Mastaglia FL; Phillips BA; Cala LA; Meredith C; Egli S; Akkari PA; Laing NG
    Neuromuscul Disord; 2002 May; 12(4):350-7. PubMed ID: 12062252
    [TBL] [Abstract][Full Text] [Related]  

  • 26. [Genetic linkage analysis in localizing a gene of autosomal dominant familial dilated cardiomyopathy with conduction defect].
    Xu W; Zhang BR; Hu ZM; Pan Q; Liu XP; Liang DS; Wu LQ; Cai F; Long ZG; Xia K; Xia JH
    Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2005 Oct; 30(5):510-4. PubMed ID: 16320577
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Clinical and muscle magnetic resonance imaging study of an Italian family with autosomal dominant inclusion body myopathy not linked to known genetic loci.
    Rodolico C; Toscano A; Patitucci A; Muglia M; Gaeta M; D'Arrigo G; Migliorato A; Messina S; Quattrone A; Messina C; Vita G
    Neurol Sci; 2005 Dec; 26(5):303-9. PubMed ID: 16388363
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11.
    Carrier L; Hengstenberg C; Beckmann JS; Guicheney P; Dufour C; Bercovici J; Dausse E; Berebbi-Bertrand I; Wisnewsky C; Pulvenis D
    Nat Genet; 1993 Jul; 4(3):311-3. PubMed ID: 8358441
    [TBL] [Abstract][Full Text] [Related]  

  • 29. The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes.
    McKay JD; Patterson B; Craig JE; Russell-Eggitt IM; Wirth MG; Burdon KP; Hewitt AW; Cohn AC; Kerdraon Y; Mackey DA
    Br J Ophthalmol; 2005 Jul; 89(7):831-4. PubMed ID: 15965161
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Mapping a new suggestive gene locus for autosomal dominant nephrolithiasis to chromosome 9q33.2-q34.2 by total genome search for linkage.
    Wolf MT; Zalewski I; Martin FC; Ruf R; Müller D; Hennies HC; Schwarz S; Panther F; Attanasio M; Acosta HG; Imm A; Lucke B; Utsch B; Otto E; Nurnberg P; Nieto VG; Hildebrandt F
    Nephrol Dial Transplant; 2005 May; 20(5):909-14. PubMed ID: 15741201
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Oculopharyngeal muscular dystrophy.
    Brais B; Rouleau GA; Bouchard JP; Fardeau M; Tomé FM
    Semin Neurol; 1999; 19(1):59-66. PubMed ID: 10711989
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus.
    Voit T; Kutz P; Leube B; Neuen-Jacob E; Schröder JM; Cavallotti D; Vaccario ML; Schaper J; Broich P; Cohn R; Baethmann M; Göhlich-Ratmann G; Scoppetta C; Herrmann R
    Neuromuscul Disord; 2001 Jan; 11(1):11-9. PubMed ID: 11166161
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Consequences of a novel caveolin-3 mutation in a large German family.
    Fischer D; Schroers A; Blümcke I; Urbach H; Zerres K; Mortier W; Vorgerd M; Schröder R
    Ann Neurol; 2003 Feb; 53(2):233-41. PubMed ID: 12557291
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families.
    Viollet L; Zarhrate M; Maystadt I; Estournet-Mathiaut B; Barois A; Desguerre I; Mayer M; Chabrol B; LeHeup B; Cusin V; Billette De Villemeur T; Bonneau D; Saugier-Veber P; Touzery-De Villepin A; Delaubier A; Kaplan J; Jeanpierre M; Feingold J; Munnich A
    Eur J Hum Genet; 2004 Jun; 12(6):483-8. PubMed ID: 15054395
    [TBL] [Abstract][Full Text] [Related]  

  • 35. X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21.
    Kennerson M; Nicholson G; Kowalski B; Krajewski K; El-Khechen D; Feely S; Chu S; Shy M; Garbern J
    Neurology; 2009 Jan; 72(3):246-52. PubMed ID: 19153371
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy.
    Wilhelmsen KC; Blake DM; Lynch T; Mabutas J; De Vera M; Neystat M; Bernstein M; Hirano M; Gilliam TC; Murphy PL; Sola MD; Bonilla E; Schotland DL; Hays AP; Rowland LP
    Ann Neurol; 1996 Apr; 39(4):507-20. PubMed ID: 8619529
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.
    Walter MC; Reilich P; Huebner A; Fischer D; Schröder R; Vorgerd M; Kress W; Born C; Schoser BG; Krause KH; Klutzny U; Bulst S; Frey JR; Lochmüller H
    Brain; 2007 Jun; 130(Pt 6):1485-96. PubMed ID: 17439987
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR).
    Toomes C; Downey LM; Bottomley HM; Scott S; Woodruff G; Trembath RC; Inglehearn CF
    Mol Vis; 2004 Jan; 10():37-42. PubMed ID: 14737064
    [TBL] [Abstract][Full Text] [Related]  

  • 39. [Linkage analysis of one family with autosomal dominant high myopia].
    Chang JX; Zhang DD; Lin Y; Liu B; Lu F; Tang X; Yang Y; Chen B; Zhang CJ; Yang ZL
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Aug; 25(4):424-6. PubMed ID: 18683142
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Further evidence of genetic heterogeneity segregating with hereditary gingival fibromatosis.
    Ye X; Shi L; Yin W; Meng L; Wang QK; Bian Z
    J Clin Periodontol; 2009 Aug; 36(8):627-33. PubMed ID: 19552635
    [TBL] [Abstract][Full Text] [Related]  

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