BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

194 related articles for article (PubMed ID: 24214363)

  • 21. Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates.
    Ben-Salem S; Hertecant J; Al-Shamsi AM; Ali BR; Al-Gazali L
    Birth Defects Res A Clin Mol Teratol; 2013 Dec; 97(12):764-9. PubMed ID: 24014090
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Genetic and functional linkage between ADAMTS superfamily proteins and fibrillin-1: a novel mechanism influencing microfibril assembly and function.
    Hubmacher D; Apte SS
    Cell Mol Life Sci; 2011 Oct; 68(19):3137-48. PubMed ID: 21858451
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Weill-Marchesani syndrome--possible linkage of the autosomal dominant form to 15q21.1.
    Wirtz MK; Samples JR; Kramer PL; Rust K; Yount J; Acott TS; Koler RD; Cisler J; Jahed A; Gorlin RJ; Godfrey M
    Am J Med Genet; 1996 Oct; 65(1):68-75. PubMed ID: 8914744
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases.
    Marzin P; Thierry B; Dancasius A; Cavau A; Michot C; Rondeau S; Baujat G; Phan G; Bonnière M; Le Bourgeois M; Khraiche D; Pejin Z; Bonnet D; Delacourt C; Cormier-Daire V
    Genet Med; 2021 Feb; 23(2):331-340. PubMed ID: 33082559
    [TBL] [Abstract][Full Text] [Related]  

  • 25. A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix.
    Karoulias SZ; Beyens A; Balic Z; Symoens S; Vandersteen A; Rideout AL; Dickinson J; Callewaert B; Hubmacher D
    Matrix Biol; 2020 Jun; 88():1-18. PubMed ID: 31726086
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Adamts10 inactivation in mice leads to persistence of ocular microfibrils subsequent to reduced fibrillin-2 cleavage.
    Wang LW; Kutz WE; Mead TJ; Beene LC; Singh S; Jenkins MW; Reinhardt DP; Apte SS
    Matrix Biol; 2019 Apr; 77():117-128. PubMed ID: 30201140
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Characteristics and genotype-phenotype correlations in ADAMTS17 mutation-related Weill-Marchesani syndrome.
    Guo D; Liu L; Yang F; Young CA; Zheng D; Jin G
    Exp Eye Res; 2023 Sep; 234():109606. PubMed ID: 37506754
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Weill-Marchesani Syndrome, a Rare Presentation of Severe Short Stature with Review of the Literature.
    Al Motawa MNA; Al Shehri MSS; Al Buali MJ; Al Agnam AAM
    Am J Case Rep; 2021 May; 22():e930824. PubMed ID: 34057920
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome.
    Shah MH; Bhat V; Shetty JS; Kumar A
    Mol Vis; 2014; 20():790-6. PubMed ID: 24940034
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review.
    Reyes-Hernández OD; Palacios-Reyes C; Chávez-Ocaña S; Cortés-Malagón EM; Alonso-Themann PG; Ramos-Cano V; Ramírez-Bello J; Sierra-Martínez M
    BMC Musculoskelet Disord; 2016 Feb; 17():79. PubMed ID: 26875674
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation.
    Khan AO; Aldahmesh MA; Al-Ghadeer H; Mohamed JY; Alkuraya FS
    Ophthalmic Genet; 2012 Dec; 33(4):235-9. PubMed ID: 22486325
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature.
    Marzin P; Rondeau S; Alessandri JL; Dieterich K; le Goff C; Mahaut C; Mercier S; Michot C; Moldovan O; Miolo G; Rossi M; Van-Gils J; Francannet C; Robert MP; Jaïs JP; Huber C; Cormier-Daire V
    J Med Genet; 2024 Jan; 61(2):109-116. PubMed ID: 37734846
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Microenvironmental regulation by fibrillin-1.
    Sengle G; Tsutsui K; Keene DR; Tufa SF; Carlson EJ; Charbonneau NL; Ono RN; Sasaki T; Wirtz MK; Samples JR; Fessler LI; Fessler JH; Sekiguchi K; Hayflick SJ; Sakai LY
    PLoS Genet; 2012 Jan; 8(1):e1002425. PubMed ID: 22242013
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Cervical artery dissection expands the cardiovascular phenotype in FBN1-related Weill-Marchesani syndrome.
    Newell K; Smith W; Ghoshhajra B; Isselbacher E; Lin A; Lindsay ME
    Am J Med Genet A; 2017 Sep; 173(9):2551-2556. PubMed ID: 28696036
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia.
    de Bruin C; Finlayson C; Funari MF; Vasques GA; Lucheze Freire B; Lerario AM; Andrew M; Hwa V; Dauber A; Jorge AA
    Horm Res Paediatr; 2016; 86(5):342-348. PubMed ID: 27245183
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type I.
    Mackenroth L; Rump A; Lorenz P; Schröck E; Tzschach A
    Clin Dysmorphol; 2016 Jul; 25(3):106-9. PubMed ID: 27057656
    [No Abstract]   [Full Text] [Related]  

  • 37. Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome.
    Steinkellner H; Etzler J; Gogoll L; Neesen J; Stifter E; Brandau O; Laccone F
    Eur J Hum Genet; 2015 Sep; 23(9):1186-91. PubMed ID: 25469541
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A novel nonsense mutation in ADAMTS17 caused autosomal recessive inheritance Weill-Marchesani syndrome from a Chinese family.
    Yi H; Zha X; Zhu Y; Lv J; Hu S; Kong Y; Wu G; Yang Y; He Y
    J Hum Genet; 2019 Jul; 64(7):681-687. PubMed ID: 31019231
    [TBL] [Abstract][Full Text] [Related]  

  • 39.
    Zhang A; Berardinelli SJ; Leonhard-Melief C; Vasudevan D; Liu TW; Taibi A; Giannone S; Apte SS; Holdener BC; Haltiwanger RS
    J Biol Chem; 2020 Nov; 295(46):15742-15753. PubMed ID: 32913123
    [No Abstract]   [Full Text] [Related]  

  • 40. Genotype-phenotype correlation and expansion of orodental anomalies in LTBP3-related disorders.
    Intarak N; Theerapanon T; Thaweesapphithak S; Suphapeetiporn K; Porntaveetus T; Shotelersuk V
    Mol Genet Genomics; 2019 Jun; 294(3):773-787. PubMed ID: 30887145
    [TBL] [Abstract][Full Text] [Related]  

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