BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

174 related articles for article (PubMed ID: 38598037)

  • 21. 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]  

  • 22. NOVEL RETINAL FINDINGS IN A PATIENT WITH AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2A.
    Abdullah M; Alabduljalil T
    Retin Cases Brief Rep; 2024 May; 18(3):400-403. PubMed ID: 36728588
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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]  

  • 24. 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]  

  • 25. Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa.
    Cinquina V; Ciaccio C; Venturini M; Masson R; Ritelli M; Colombi M
    Mol Genet Genomic Med; 2021 Jan; 9(1):e1562. PubMed ID: 33275834
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Autosomal recessive cutis laxa type 1C with a homozygous LTBP4 splicing variant: a case report and update of literature.
    Mazaheri M; Jahantigh HR; Yavari M; Mirjalili SR; Vahidnezhad H
    Mol Biol Rep; 2022 May; 49(5):4135-4140. PubMed ID: 35445908
    [TBL] [Abstract][Full Text] [Related]  

  • 27. A Novel Intronic Splicing Mutation in the
    Guo X; Chen S; Lin M; Pan Y; Liu N; Shi T
    Genet Test Mol Biomarkers; 2021 Jul; 25(7):478-485. PubMed ID: 34280007
    [No Abstract]   [Full Text] [Related]  

  • 28. 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]  

  • 29. Bilateral congenital entropion with cutis laxa.
    Al-Faky YH; Salih MA; Mubarak M; Al-Rikabi AC
    Pediatr Dermatol; 2014; 31(3):e82-4. PubMed ID: 24517732
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. 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]  

  • 32. Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa.
    Guillard M; Dimopoulou A; Fischer B; Morava E; Lefeber DJ; Kornak U; Wevers RA
    Biochim Biophys Acta; 2009 Sep; 1792(9):903-14. PubMed ID: 19171192
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. First report of a short in-frame biallelic deletion removing part of the EGF-like domain calcium-binding motif in LTBP4 and causing autosomal recessive cutis laxa type 1C.
    Ravel JM; Comel M; Wandzel M; Bronner M; Tatopoulos A; Renaud M; Lambert L; Bursztejn AC; Bonnet C
    Am J Med Genet A; 2022 Nov; 188(11):3343-3349. PubMed ID: 35972031
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Clinical report and genetic analysis of a Chinese neonate with craniofacial microsomia caused by a splicing variant of the splicing factor 3b subunit 2 gene.
    Zhang Y; Bi S; Dai L; Zhao Y; Liu Y; Shi Z
    Mol Genet Genomic Med; 2023 Dec; 11(12):e2268. PubMed ID: 37555391
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Hybrid minigene splicing assay verified the pathogenicity of a novel splice site variant in the dystrophin gene of a Chinese patient with typical Duchenne muscular dystrophy phenotype.
    Wang Z; Lin Y; Qiu L; Zheng D; Yan A; Zeng J; Lan F
    Clin Chem Lab Med; 2016 Sep; 54(9):1435-40. PubMed ID: 26985686
    [TBL] [Abstract][Full Text] [Related]  

  • 38. The
    Fan K; Guo Y; Song Z; Yuan L; Zheng W; Hu X; Gong L; Deng H
    Front Mol Neurosci; 2023; 16():1091323. PubMed ID: 37152430
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN).
    Zhang MC; He L; Giro M; Yong SL; Tiller GE; Davidson JM
    J Biol Chem; 1999 Jan; 274(2):981-6. PubMed ID: 9873040
    [TBL] [Abstract][Full Text] [Related]  

  • 40.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.