BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

599 related articles for article (PubMed ID: 17971833)

  • 1. Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.
    Morava E; Lefeber DJ; Urban Z; de Meirleir L; Meinecke P; Gillessen Kaesbach G; Sykut-Cegielska J; Adamowicz M; Salafsky I; Ranells J; Lemyre E; van Reeuwijk J; Brunner HG; Wevers RA
    Eur J Hum Genet; 2008 Jan; 16(1):28-35. PubMed ID: 17971833
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. [Congenital generalized cutis laxa: 5 cases].
    Rybojad M; Baumann C; Godeau G; Moraillon I; Prigent F; Morel P; Bourrat E
    Ann Dermatol Venereol; 1999 Apr; 126(4):317-9. PubMed ID: 10421933
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type.
    Van Maldergem L; Yuksel-Apak M; Kayserili H; Seemanova E; Giurgea S; Basel-Vanagaite L; Leao-Teles E; Vigneron J; Foulon M; Greally M; Jaeken J; Mundlos S; Dobyns WB
    Neurology; 2008 Nov; 71(20):1602-8. PubMed ID: 18716235
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Cutis laxa with frontoparietal cortical malformation: a novel type of congenital disorder of glycosylation.
    Okanishi T; Saito Y; Yuasa I; Miura M; Nagata I; Maegaki Y; Ohno K
    Eur J Paediatr Neurol; 2008 May; 12(3):262-5. PubMed ID: 18187349
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Diagnostic dilemma's: the congenital disorders of glycosylation are clinical chameleons.
    Coman DJ
    Eur J Hum Genet; 2008 Jan; 16(1):2-4. PubMed ID: 18075505
    [No Abstract]   [Full Text] [Related]  

  • 7. Decreased bone density and treatment in patients with autosomal recessive cutis laxa.
    Noordam C; Funke S; Knoers NV; Jira P; Wevers RA; Urban Z; Morava E
    Acta Paediatr; 2009 Mar; 98(3):490-4. PubMed ID: 19055655
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Mutations in PYCR1 gene in three families with autosomal recessive cutis laxa, type 2.
    Scherrer DZ; Baptista MB; Matos AH; Maurer-Morelli CV; Steiner CE
    Eur J Med Genet; 2013 Jun; 56(6):336-9. PubMed ID: 23531708
    [No Abstract]   [Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. [Cutis laxa syndrome. Case report].
    Kermane A; Tachfouti S; Lezrek M; Mohcine Z
    Bull Soc Belge Ophtalmol; 2004; (292):5-8. PubMed ID: 15253484
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.
    Kariminejad A; Afroozan F; Bozorgmehr B; Ghanadan A; Akbaroghli S; Khorram Khorshid HR; Mojahedi F; Setoodeh A; Loh A; Tan YX; Escande-Beillard N; Malfait F; Reversade B; Gardeitchik T; Morava E
    Int J Mol Sci; 2017 Mar; 18(3):. PubMed ID: 28294978
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mass spectrometry of apolipoprotein C-III, a simple analytical method for mucin-type O-glycosylation and its application to an autosomal recessive cutis laxa type-2 (ARCL2) patient.
    Wada Y; Kadoya M; Okamoto N
    Glycobiology; 2012 Aug; 22(8):1140-4. PubMed ID: 22611120
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Syndrome of congenital cutis laxa with ligamentous laxity and delayed development: report of a brother and sister from Turkey.
    Oğur G; Yüksel-Apak M; Demiryont M
    Am J Med Genet; 1990 Sep; 37(1):6-9. PubMed ID: 1700609
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Sotos syndrome and cutis laxa.
    Robertson SP; Bankier A
    J Med Genet; 1999 Jan; 36(1):51-6. PubMed ID: 9950366
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Congenital generalized cutis laxa].
    Lambert D; Beer F; Jeannin-Magnificat C; Mabille JP; Israël J; Lambert-Weyl M; Nivelon-Chevalier A; Alison M
    Ann Dermatol Venereol; 1983; 110(2):129-38. PubMed ID: 6881855
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Cutis laxa in Kabuki make-up syndrome.
    Vaccaro M; Salpietro DC; Briuglia S; Merlino MV; Guarneri F; Dallapiccola B
    J Am Acad Dermatol; 2005 Nov; 53(5 Suppl 1):S247-51. PubMed ID: 16227101
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Cutis laxa type II and wrinkly skin syndrome: distinct phenotypes.
    Gupta N; Phadke SR
    Pediatr Dermatol; 2006; 23(3):225-30. PubMed ID: 16780467
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Autosomal recessive cutis laxa in two siblings associated with blue sclera.
    Girisgen I; Mungan I; Cakir M; Ersoz S; Okten A
    Pediatr Dermatol; 2007; 24(3):E10-3. PubMed ID: 17509111
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 30.