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 *

129 related articles for article (PubMed ID: 23532871)

  • 21. Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa.
    Dasouki M; Markova D; Garola R; Sasaki T; Charbonneau NL; Sakai LY; Chu ML
    Am J Med Genet A; 2007 Nov; 143A(22):2635-41. PubMed ID: 17937443
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Loss-of-Function Variants in
    Verlee M; Beyens A; Gezdirici A; Gulec EY; Pottie L; De Feyter S; Vanhooydonck M; Tapaneeyaphan P; Symoens S; Callewaert B
    Genes (Basel); 2021 Mar; 12(4):. PubMed ID: 33807164
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.
    Fischer B; Callewaert B; Schröter P; Coucke PJ; Schlack C; Ott CE; Morroni M; Homann W; Mundlos S; Morava E; Ficcadenti A; Kornak U
    Mol Genet Metab; 2014 Aug; 112(4):310-6. PubMed ID: 24913064
    [TBL] [Abstract][Full Text] [Related]  

  • 24. RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome.
    Basel-Vanagaite L; Sarig O; Hershkovitz D; Fuchs-Telem D; Rapaport D; Gat A; Isman G; Shirazi I; Shohat M; Enk CD; Birk E; Kohlhase J; Matysiak-Scholze U; Maya I; Knopf C; Peffekoven A; Hennies HC; Bergman R; Horowitz M; Ishida-Yamamoto A; Sprecher E
    Am J Hum Genet; 2009 Aug; 85(2):254-63. PubMed ID: 19631308
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Autosomal recessive cutis laxa syndrome. A case report.
    Jung K; Ueberham U; Hausser I; Bosler K; John B; Linse R
    Acta Derm Venereol; 1996 Jul; 76(4):298-301. PubMed ID: 8869689
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. 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]  

  • 28. New insight into clinical heterogeneity and inheritance diversity of FBLN5-related cutis laxa.
    Gharesouran J; Hosseinzadeh H; Ghafouri-Fard S; Jabbari Moghadam Y; Ahmadian Heris J; Jafari-Rouhi AH; Taheri M; Rezazadeh M
    Orphanet J Rare Dis; 2021 Jan; 16(1):51. PubMed ID: 33509220
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene.
    Szabo Z; Crepeau MW; Mitchell AL; Stephan MJ; Puntel RA; Yin Loke K; Kirk RC; Urban Z
    J Med Genet; 2006 Mar; 43(3):255-8. PubMed ID: 16085695
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in
    Letard P; Schepers D; Albuisson J; Bruneval P; Spaggiari E; Van de Beek G; Khung-Savatovsky S; Belarbi N; Capri Y; Delezoide AL; Loeys B; Guimiot F
    Mol Syndromol; 2018 Jul; 9(4):190-196. PubMed ID: 30140196
    [No Abstract]   [Full Text] [Related]  

  • 32. Congenital cutis laxa syndrome: type II autosomal recessive inheritance.
    Tüysüz B; Arapoğlu M; Ilikkan B; Demirkesen C; Perk Y
    Turk J Pediatr; 2003; 45(3):265-8. PubMed ID: 14696810
    [TBL] [Abstract][Full Text] [Related]  

  • 33. [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]  

  • 34. Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature.
    Wolthuis DF; van Asbeck E; Mohamed M; Gardeitchik T; Lim-Melia ER; Wevers RA; Morava E
    Eur J Paediatr Neurol; 2014 Jul; 18(4):511-5. PubMed ID: 24767728
    [TBL] [Abstract][Full Text] [Related]  

  • 35. New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations.
    Callewaert B; Renard M; Hucthagowder V; Albrecht B; Hausser I; Blair E; Dias C; Albino A; Wachi H; Sato F; Mecham RP; Loeys B; Coucke PJ; De Paepe A; Urban Z
    Hum Mutat; 2011 Apr; 32(4):445-55. PubMed ID: 21309044
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Cutis laxa: case report.
    Nascimento GM; Nunes CS; Menegotto PF; Raskin S; Almeida Nd
    An Bras Dermatol; 2010; 85(5):684-6. PubMed ID: 21152794
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Mutations in PYCR1 cause cutis laxa with progeroid features.
    Reversade B; Escande-Beillard N; Dimopoulou A; Fischer B; Chng SC; Li Y; Shboul M; Tham PY; Kayserili H; Al-Gazali L; Shahwan M; Brancati F; Lee H; O'Connor BD; Schmidt-von Kegler M; Merriman B; Nelson SF; Masri A; Alkazaleh F; Guerra D; Ferrari P; Nanda A; Rajab A; Markie D; Gray M; Nelson J; Grix A; Sommer A; Savarirayan R; Janecke AR; Steichen E; Sillence D; Hausser I; Budde B; Nürnberg G; Nürnberg P; Seemann P; Kunkel D; Zambruno G; Dallapiccola B; Schuelke M; Robertson S; Hamamy H; Wollnik B; Van Maldergem L; Mundlos S; Kornak U
    Nat Genet; 2009 Sep; 41(9):1016-21. PubMed ID: 19648921
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39. Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene.
    Graul-Neumann LM; Hausser I; Essayie M; Rauch A; Kraus C
    Am J Med Genet A; 2008 Apr; 146A(8):977-83. PubMed ID: 18348261
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel FBLN5 mutation.
    Kantaputra PN; Kaewgahya M; Wiwatwongwana A; Wiwatwongwana D; Sittiwangkul R; Iamaroon A; Dejkhamron P
    Am J Med Genet A; 2014 Sep; 164A(9):2370-7. PubMed ID: 24962763
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.