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 *

149 related articles for article (PubMed ID: 33058140)

  • 1. Cutis laxa: A comprehensive overview of clinical characteristics and pathophysiology.
    Beyens A; Boel A; Symoens S; Callewaert B
    Clin Genet; 2021 Jan; 99(1):53-66. PubMed ID: 33058140
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical and Molecular Delineation of Cutis Laxa Syndromes: Paradigms for Homeostasis.
    Beyens A; Pottie L; Sips P; Callewaert B
    Adv Exp Med Biol; 2021; 1348():273-309. PubMed ID: 34807425
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.
    Piard J; Lespinasse J; Vlckova M; Mensah MA; Iurian S; Simandlova M; Malikova M; Bartsch O; Rossi M; Lenoir M; Nugues F; Mundlos S; Kornak U; Stanier P; Sousa SB; Van Maldergem L
    Am J Med Genet A; 2018 Mar; 176(3):668-675. PubMed ID: 29341480
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. Cutis laxa: a review.
    Berk DR; Bentley DD; Bayliss SJ; Lind A; Urban Z
    J Am Acad Dermatol; 2012 May; 66(5):842.e1-17. PubMed ID: 22387031
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Clinical and molecular characterization of an 18-month-old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant, and literature review.
    Ritelli M; Cammarata-Scalisi F; Cinquina V; Colombi M
    Mol Genet Genomic Med; 2019 Jul; 7(7):e00735. PubMed ID: 31115174
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Healing slack skin.
    Davidson JM; Giro M
    J Invest Dermatol; 2006 Dec; 126(12):2563-4. PubMed ID: 17108902
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. Autosomal recessive cutis laxa syndrome revisited.
    Morava E; Guillard M; Lefeber DJ; Wevers RA
    Eur J Hum Genet; 2009 Sep; 17(9):1099-110. PubMed ID: 19401719
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. The complexity of elastic fiber biogenesis: the paradigm of cutis laxa.
    Urban Z
    J Invest Dermatol; 2012 Nov; 132(E1):E12-4. PubMed ID: 23154624
    [No Abstract]   [Full Text] [Related]  

  • 19. 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]  

  • 20. Modeling autosomal recessive cutis laxa type 1C in mice reveals distinct functions for Ltbp-4 isoforms.
    Bultmann-Mellin I; Conradi A; Maul AC; Dinger K; Wempe F; Wohl AP; Imhof T; Wunderlich FT; Bunck AC; Nakamura T; Koli K; Bloch W; Ghanem A; Heinz A; von Melchner H; Sengle G; Sterner-Kock A
    Dis Model Mech; 2015 Apr; 8(4):403-15. PubMed ID: 25713297
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.