BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

240 related articles for article (PubMed ID: 28409271)

  • 1. Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.
    Balasubramaniam S; Riley LG; Bratkovic D; Ketteridge D; Manton N; Cowley MJ; Gayevskiy V; Roscioli T; Mohamed M; Gardeitchik T; Morava E; Christodoulou J
    J Inherit Metab Dis; 2017 Sep; 40(5):745-747. PubMed ID: 28409271
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Metabolic cutis laxa syndromes.
    Mohamed M; Kouwenberg D; Gardeitchik T; Kornak U; Wevers RA; Morava E
    J Inherit Metab Dis; 2011 Aug; 34(4):907-16. PubMed ID: 21431621
    [TBL] [Abstract][Full Text] [Related]  

  • 3. ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome.
    Sakai C; Yamaguchi S; Sasaki M; Miyamoto Y; Matsushima Y; Goto Y
    Hum Mutat; 2015 Feb; 36(2):232-9. PubMed ID: 25393721
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. ECHS1 deficiency and its biochemical and clinical phenotype.
    Ozlu C; Chelliah P; Dahshi H; Horton D; Edgar VB; Messahel S; Kayani S
    Am J Med Genet A; 2022 Oct; 188(10):2908-2919. PubMed ID: 35856138
    [TBL] [Abstract][Full Text] [Related]  

  • 6. ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.
    Peters H; Buck N; Wanders R; Ruiter J; Waterham H; Koster J; Yaplito-Lee J; Ferdinandusse S; Pitt J
    Brain; 2014 Nov; 137(Pt 11):2903-8. PubMed ID: 25125611
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Clinical and biochemical characterization of four patients with mutations in ECHS1.
    Ferdinandusse S; Friederich MW; Burlina A; Ruiter JP; Coughlin CR; Dishop MK; Gallagher RC; Bedoyan JK; Vaz FM; Waterham HR; Gowan K; Chatfield K; Bloom K; Bennett MJ; Elpeleg O; Van Hove JL; Wanders RJ
    Orphanet J Rare Dis; 2015 Jun; 10():79. PubMed ID: 26081110
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa.
    Mohamed M; Gardeitchik T; Balasubramaniam S; Guerrero-Castillo S; Dalloyaux D; van Kraaij S; Venselaar H; Hoischen A; Urban Z; Brandt U; Al-Shawi R; Simons JP; Frison M; Ngu LH; Callewaert B; Spelbrink H; Kallemeijn WW; Aerts JMFG; Waugh MG; Morava E; Wevers RA
    J Inherit Metab Dis; 2020 Nov; 43(6):1382-1391. PubMed ID: 32418222
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.
    Fischer-Zirnsak B; Escande-Beillard N; Ganesh J; Tan YX; Al Bughaili M; Lin AE; Sahai I; Bahena P; Reichert SL; Loh A; Wright GD; Liu J; Rahikkala E; Pivnick EK; Choudhri AF; Krüger U; Zemojtel T; van Ravenswaaij-Arts C; Mostafavi R; Stolte-Dijkstra I; Symoens S; Pajunen L; Al-Gazali L; Meierhofer D; Robinson PN; Mundlos S; Villarroel CE; Byers P; Masri A; Robertson SP; Schwarze U; Callewaert B; Reversade B; Kornak U
    Am J Hum Genet; 2015 Sep; 97(3):483-92. PubMed ID: 26320891
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.
    Fitzsimons PE; Alston CL; Bonnen PE; Hughes J; Crushell E; Geraghty MT; Tetreault M; O'Reilly P; Twomey E; Sheikh Y; Walsh R; Waterham HR; Ferdinandusse S; Wanders RJA; Taylor RW; Pitt JJ; Mayne PD
    Am J Med Genet A; 2018 May; 176(5):1115-1127. PubMed ID: 29575569
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.
    Kornak U; Reynders E; Dimopoulou A; van Reeuwijk J; Fischer B; Rajab A; Budde B; Nürnberg P; Foulquier F; ; Lefeber D; Urban Z; Gruenewald S; Annaert W; Brunner HG; van Bokhoven H; Wevers R; Morava E; Matthijs G; Van Maldergem L; Mundlos S
    Nat Genet; 2008 Jan; 40(1):32-4. PubMed ID: 18157129
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
    Van Damme T; Gardeitchik T; Mohamed M; Guerrero-Castillo S; Freisinger P; Guillemyn B; Kariminejad A; Dalloyaux D; van Kraaij S; Lefeber DJ; Syx D; Steyaert W; De Rycke R; Hoischen A; Kamsteeg EJ; Wong SY; van Scherpenzeel M; Jamali P; Brandt U; Nijtmans L; Korenke GC; Chung BHY; Mak CCY; Hausser I; Kornak U; Fischer-Zirnsak B; Strom TM; Meitinger T; Alanay Y; Utine GE; Leung PKC; Ghaderi-Sohi S; Coucke P; Symoens S; De Paepe A; Thiel C; Haack TB; Malfait F; Morava E; Callewaert B; Wevers RA
    Am J Hum Genet; 2017 Feb; 100(2):216-227. PubMed ID: 28065471
    [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. Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2.
    Aslanger AD; Altunoglu U; Aslanger E; Satkın BN; Uyguner ZO; Kayserili H
    Am J Med Genet A; 2014 Feb; 164A(2):484-9. PubMed ID: 24449201
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion.
    Yamada K; Aiba K; Kitaura Y; Kondo Y; Nomura N; Nakamura Y; Fukushi D; Murayama K; Shimomura Y; Pitt J; Yamaguchi S; Yokochi K; Wakamatsu N
    J Med Genet; 2015 Oct; 52(10):691-8. PubMed ID: 26251176
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Pathogenic Biallelic Mutations in ECHS1 in a Case with Short-Chain Enoyl-CoA Hydratase (SCEH) Deficiency-Case Report and Literature Review.
    Muntean C; Tripon F; Bogliș A; Bănescu C
    Int J Environ Res Public Health; 2022 Feb; 19(4):. PubMed ID: 35206276
    [No Abstract]   [Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 12.