BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

102 related articles for article (PubMed ID: 15679832)

  • 1. A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13.
    Zaidi SH; Peltekova V; Meyer S; Lindinger A; Paterson AD; Tsui LC; Faiyaz-Ul-Haque M; Teebi AS
    Clin Genet; 2005 Feb; 67(2):183-8. PubMed ID: 15679832
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome.
    Giunta C; Nuytinck L; Raghunath M; Hausser I; De Paepe A; Steinmann B
    Am J Med Genet; 2002 May; 109(4):284-90. PubMed ID: 11992482
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [Arterial tortuosity syndrome].
    Meyer S; Faiyaz-Ul-Haque M; Zankl M; Sailer NL; Marx N; Limbach HG; Lindinger A
    Klin Padiatr; 2005; 217(1):36-40. PubMed ID: 15640971
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.
    Callewaert BL; Willaert A; Kerstjens-Frederikse WS; De Backer J; Devriendt K; Albrecht B; Ramos-Arroyo MA; Doco-Fenzy M; Hennekam RC; Pyeritz RE; Krogmann ON; Gillessen-kaesbach G; Wakeling EL; Nik-zainal S; Francannet C; Mauran P; Booth C; Barrow M; Dekens R; Loeys BL; Coucke PJ; De Paepe AM
    Hum Mutat; 2008 Jan; 29(1):150-8. PubMed ID: 17935213
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Pili annulati: refinement of the locus on chromosome 12q24.33 to a 2.9-Mb interval and candidate gene analysis.
    Giehl KA; Rogers MA; Radivojkov M; Tosti A; de Berker DA; Weinlich G; Schmuth M; Ruzicka T; Eckstein GN
    Br J Dermatol; 2009 Mar; 160(3):527-33. PubMed ID: 19067701
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.
    Coucke PJ; Willaert A; Wessels MW; Callewaert B; Zoppi N; De Backer J; Fox JE; Mancini GM; Kambouris M; Gardella R; Facchetti F; Willems PJ; Forsyth R; Dietz HC; Barlati S; Colombi M; Loeys B; De Paepe A
    Nat Genet; 2006 Apr; 38(4):452-7. PubMed ID: 16550171
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract.
    Cohen D; Bar-Yosef U; Levy J; Gradstein L; Belfair N; Ofir R; Joshua S; Lifshitz T; Carmi R; Birk OS
    Invest Ophthalmol Vis Sci; 2007 May; 48(5):2208-13. PubMed ID: 17460281
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification of candidate regions for a novel Usher syndrome type II locus.
    Ben Rebeh I; Benzina Z; Dhouib H; Hadjamor I; Amyere M; Ayadi L; Turki K; Hammami B; Kmiha N; Kammoun H; Hakim B; Charfedine I; Vikkula M; Ghorbel A; Ayadi H; Masmoudi S
    Mol Vis; 2008 Sep; 14():1719-26. PubMed ID: 18806881
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13.
    Coucke PJ; Wessels MW; Van Acker P; Gardella R; Barlati S; Willems PJ; Colombi M; De Paepe A
    J Med Genet; 2003 Oct; 40(10):747-51. PubMed ID: 14569121
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families.
    Riazuddin SA; Zulfiqar F; Zhang Q; Sergeev YV; Qazi ZA; Husnain T; Caruso R; Riazuddin S; Sieving PA; Hejtmancik JF
    Invest Ophthalmol Vis Sci; 2005 Jul; 46(7):2264-70. PubMed ID: 15980210
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Recurrent biparental hydatidiform mole: additional evidence for a 1.1-Mb locus in 19q13.4 and candidate gene analysis.
    Panichkul PC; Al-Hussaini TK; Sierra R; Kashork CD; Popek EJ; Stockton DW; Van den Veyver IB
    J Soc Gynecol Investig; 2005 Jul; 12(5):376-83. PubMed ID: 15979551
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Exclusion of candidate genes in a family with arterial tortuosity syndrome.
    Gardella R; Zoppi N; Assanelli D; Muiesan ML; Barlati S; Colombi M
    Am J Med Genet A; 2004 Apr; 126A(3):221-8. PubMed ID: 15054833
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Arterial tortuosity syndrome.
    Franceschini P; Guala A; Licata D; Di Cara G; Franceschini D
    Am J Med Genet; 2000 Mar; 91(2):141-3. PubMed ID: 10748415
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Presumed homozygous Ehlers-Danlos syndrome type I in a highly inbred kindred.
    Kozlova SI; Prytkov AN; Blinnikova OE; Sultanova FA; Bochkova DN
    Am J Med Genet; 1984 Aug; 18(4):763-7. PubMed ID: 6237581
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genomic structure and organization of the high grade Myopia-2 locus (MYP2) critical region: mutation screening of 9 positional candidate genes.
    Scavello GS; Paluru PC; Zhou J; White PS; Rappaport EF; Young TL
    Mol Vis; 2005 Feb; 11():97-110. PubMed ID: 15723005
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type.
    Faiyaz-Ul-Haque M; Zaidi SH; Al-Ali M; Al-Mureikhi MS; Kennedy S; Al-Thani G; Tsui LC; Teebi AS
    Am J Med Genet A; 2004 Jul; 128A(1):39-45. PubMed ID: 15211654
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Infantile convulsions and paroxysmal choreoathetosis in a consanguineous family.
    Demir E; Prud'homme JF; Topçu M
    Pediatr Neurol; 2004 May; 30(5):349-53. PubMed ID: 15165638
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Recurrent congenital diaphragmatic hernia in Ehlers-Danlos syndrome.
    Lin IC; Ko SF; Shieh CS; Huang CF; Chien SJ; Liang CD
    Cardiovasc Intervent Radiol; 2006; 29(5):920-3. PubMed ID: 16447004
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin.
    Zaidi SH; Meyer S; Peltekova VD; Lindinger A; Teebi AS; Faiyaz-Ul-Haque M
    Eur J Pediatr; 2009 Jul; 168(7):867-70. PubMed ID: 18818946
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.