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 *

193 related articles for article (PubMed ID: 21567914)

  • 41. Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1.
    Bhola PT; Hartley T; Bareke E; ; Boycott KM; Nikkel SM; Dyment DA
    J Hum Genet; 2017 Jun; 62(6):661-663. PubMed ID: 28228640
    [TBL] [Abstract][Full Text] [Related]  

  • 42. 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]  

  • 43. A Transcriptome Study of Progeroid Neurocutaneous Syndrome Reveals POSTN As a New Element in Proline Metabolic Disorder.
    Huang YW; Chiang MF; Ho CS; Hung PL; Hsu MH; Lee TH; Chu LJ; Liu H; Tang P; Victor Ng W; Lin DS
    Aging Dis; 2018 Dec; 9(6):1043-1057. PubMed ID: 30574417
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Sublethal endoplasmic reticulum stress caused by the mutation of immunoglobulin heavy chain-binding protein induces the synthesis of a mitochondrial protein, pyrroline-5-carboxylate reductase 1.
    Jin H; Komita M; Koseki H; Aoe T
    Cell Stress Chaperones; 2017 Jan; 22(1):77-85. PubMed ID: 27796797
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A.
    Cohen R; Halevy A; Aharoni S; Kraus D; Konen O; Basel-Vanagaite L; Goldberg-Stern H; Straussberg R
    Neurogenetics; 2016 Oct; 17(4):251-257. PubMed ID: 27631729
    [TBL] [Abstract][Full Text] [Related]  

  • 46. 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]  

  • 47. A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report.
    Okuneva EG; Kozina AA; Baryshnikova NV; Krasnenko AY; Tsukanov KY; Klimchuk OI; Surkova EI; Ilinsky VV
    BMC Dermatol; 2019 Jan; 19(1):4. PubMed ID: 30704477
    [TBL] [Abstract][Full Text] [Related]  

  • 48. 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]  

  • 49. A Novel
    Karacan İ; Diz Küçükkaya R; Karakuş FN; Solakoğlu S; Tolun A; Hançer VS; Turanlı ET
    Turk J Haematol; 2019 Feb; 36(1):29-36. PubMed ID: 30474613
    [TBL] [Abstract][Full Text] [Related]  

  • 50. 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]  

  • 51. 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]  

  • 52. Two novel compound heterozygous variants of LTBP4 in a Chinese infant with cutis laxa type IC and a review of the related literature.
    Zhang Q; Qin Z; Yi S; Wei H; Zhou XZ; Su J
    BMC Med Genomics; 2020 Dec; 13(1):183. PubMed ID: 33302946
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency.
    Renard M; Holm T; Veith R; Callewaert BL; Adès LC; Baspinar O; Pickart A; Dasouki M; Hoyer J; Rauch A; Trapane P; Earing MG; Coucke PJ; Sakai LY; Dietz HC; De Paepe AM; Loeys BL
    Eur J Hum Genet; 2010 Aug; 18(8):895-901. PubMed ID: 20389311
    [TBL] [Abstract][Full Text] [Related]  

  • 54. 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]  

  • 55. Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.
    Vogt G; El Choubassi N; Herczegfalvi Á; Kölbel H; Lekaj A; Schara U; Holtgrewe M; Krause S; Horvath R; Schuelke M; Hübner C; Mundlos S; Roos A; Lochmüller H; Karcagi V; Kornak U; Fischer-Zirnsak B
    J Inherit Metab Dis; 2021 Jul; 44(4):972-986. PubMed ID: 33320377
    [TBL] [Abstract][Full Text] [Related]  

  • 56. 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]  

  • 57. Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS).
    Skidmore DL; Chitayat D; Morgan T; Hinek A; Fischer B; Dimopoulou A; Somers G; Halliday W; Blaser S; Diambomba Y; Lemire EG; Kornak U; Robertson SP
    Am J Med Genet A; 2011 Aug; 155A(8):1848-56. PubMed ID: 21739576
    [TBL] [Abstract][Full Text] [Related]  

  • 58. 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]  

  • 59. Congenital Cutis Laxa Type 2 Associated With Recurrent Aspiration Pneumonia and Growth Delay: Case Report.
    Rahmati M; Yazdanparast M; Jahanshahi K; Zakeri M
    Electron Physician; 2015 Oct; 7(6):1391-3. PubMed ID: 26516448
    [TBL] [Abstract][Full Text] [Related]  

  • 60. [Analysis of clinical features and genetic variants in a child with autosomal recessive cutis laxa due to variants of ATP6V0A2 gene].
    Zhu R; Wang Q; Ling Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Oct; 39(10):1135-1139. PubMed ID: 36184099
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.