BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

322 related articles for article (PubMed ID: 16691202)

  • 1. Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype.
    Elahi E; Kalhor R; Banihosseini SS; Torabi N; Pour-Jafari H; Houshmand M; Amini SS; Ramezani A; Loeys B
    J Invest Dermatol; 2006 Jul; 126(7):1506-9. PubMed ID: 16691202
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Cutis laxa of the autosomal recessive type in a consanguineous family.
    de Schepper S; Loeys B; de Paepe A; Lambert J; Naeyaert JM
    Eur J Dermatol; 2003; 13(6):529-33. PubMed ID: 14721770
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa.
    Loeys B; Van Maldergem L; Mortier G; Coucke P; Gerniers S; Naeyaert JM; De Paepe A
    Hum Mol Genet; 2002 Sep; 11(18):2113-8. PubMed ID: 12189163
    [TBL] [Abstract][Full Text] [Related]  

  • 4. An autosomal-recessive form of cutis laxa is due to homozygous elastin mutations, and the phenotype may be modified by a heterozygous fibulin 5 polymorphism.
    Mégarbané H; Florence J; Sass JO; Schwonbeck S; Foglio M; de Cid R; Cure S; Saker S; Mégarbané A; Fischer J
    J Invest Dermatol; 2009 Jul; 129(7):1650-5. PubMed ID: 19194475
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene.
    Markova D; Zou Y; Ringpfeil F; Sasaki T; Kostka G; Timpl R; Uitto J; Chu ML
    Am J Hum Genet; 2003 Apr; 72(4):998-1004. PubMed ID: 12618961
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Autosomal recessive cutis laxa: a novel mutation in the FBLN5 gene in a family.
    Tekedereli I; Demiral E; Gokce IK; Esener Z; Camtosun E; Akinci A
    Clin Dysmorphol; 2019 Apr; 28(2):63-65. PubMed ID: 30640789
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Cutis Laxa.
    Mohamed M; Voet M; Gardeitchik T; Morava E
    Adv Exp Med Biol; 2014; 802():161-84. PubMed ID: 24443027
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation.
    Hoyer J; Kraus C; Hammersen G; Geppert JP; Rauch A
    Clin Genet; 2009 Sep; 76(3):276-81. PubMed ID: 19664000
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa.
    Hu Q; Loeys BL; Coucke PJ; De Paepe A; Mecham RP; Choi J; Davis EC; Urban Z
    Hum Mol Genet; 2006 Dec; 15(23):3379-86. PubMed ID: 17035250
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Epigenetic silencing of lysyl oxidase-like-1 through DNA hypermethylation in an autosomal recessive cutis laxa case.
    Debret R; Cenizo V; Aimond G; André V; Devillers M; Rouvet I; Mégarbané A; Damour O; Sommer P
    J Invest Dermatol; 2010 Nov; 130(11):2594-601. PubMed ID: 20613779
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model.
    Claus S; Fischer J; Mégarbané H; Mégarbané A; Jobard F; Debret R; Peyrol S; Saker S; Devillers M; Sommer P; Damour O
    J Invest Dermatol; 2008 Jun; 128(6):1442-50. PubMed ID: 18185537
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Defective protein glycosylation in patients with cutis laxa syndrome.
    Morava E; Wopereis S; Coucke P; Gillessen-Kaesbach G; Voit T; Smeitink J; Wevers R; Grünewald S
    Eur J Hum Genet; 2005 Apr; 13(4):414-21. PubMed ID: 15657616
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa.
    Rodriguez-Revenga L; Iranzo P; Badenas C; Puig S; Carrió A; Milà M
    Arch Dermatol; 2004 Sep; 140(9):1135-9. PubMed ID: 15381555
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Type II autosomal recessive cutis laxa: report of another patient and molecular studies concerning three candidate genes.
    Scherrer DZ; Alexandrino F; Cintra ML; Sartorato EL; Steiner CE
    Am J Med Genet A; 2008 Nov; 146A(21):2740-5. PubMed ID: 18819152
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome.
    Hucthagowder V; Sausgruber N; Kim KH; Angle B; Marmorstein LY; Urban Z
    Am J Hum Genet; 2006 Jun; 78(6):1075-80. PubMed ID: 16685658
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Inflammatory destruction of elastic fibers in acquired cutis laxa is associated with missense alleles in the elastin and fibulin-5 genes.
    Hu Q; Reymond JL; Pinel N; Zabot MT; Urban Z
    J Invest Dermatol; 2006 Feb; 126(2):283-90. PubMed ID: 16374472
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Mutation of the fibulin-5 gene in recessive autosomal cutis laxa].
    Dereure O
    Ann Dermatol Venereol; 2004 May; 131(5):516. PubMed ID: 15235549
    [No Abstract]   [Full Text] [Related]  

  • 18. Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.
    Lotery AJ; Baas D; Ridley C; Jones RP; Klaver CC; Stone E; Nakamura T; Luff A; Griffiths H; Wang T; Bergen AA; Trump D
    Hum Mutat; 2006 Jun; 27(6):568-74. PubMed ID: 16652333
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics.
    Wopereis S; Morava E; Grünewald S; Mills PB; Winchester BG; Clayton P; Coucke P; Huijben KM; Wevers RA
    Biochim Biophys Acta; 2005 Jun; 1741(1-2):156-64. PubMed ID: 15955459
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel deletion mutation in the ATP6V0A2 gene in an Iranian patient affected by autosomal recessive cutis laxa.
    Shafagh Shishavan N; Morovvati S
    Ir J Med Sci; 2023 Oct; 192(5):2279-2282. PubMed ID: 36520350
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.