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 *

163 related articles for article (PubMed ID: 22486325)

  • 1. 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]  

  • 2. Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.
    Morales J; Al-Sharif L; Khalil DS; Shinwari JM; Bavi P; Al-Mahrouqi RA; Al-Rajhi A; Alkuraya FS; Meyer BF; Al Tassan N
    Am J Hum Genet; 2009 Nov; 85(5):558-68. PubMed ID: 19836009
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. Similarity of geleophysic dysplasia and Weill-Marchesani syndrome.
    Kochhar A; Kirmani S; Cetta F; Younge B; Hyland JC; Michels V
    Am J Med Genet A; 2013 Dec; 161A(12):3130-2. PubMed ID: 24214363
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical and genetic investigation of isolated microspherophakia in a consanguineous Tunisian family.
    Ben Yahia S; Ouechtati F; Jelliti B; Nouira S; Chakroun S; Abdelhak S; Khairallah M
    J Hum Genet; 2009 Sep; 54(9):550-3. PubMed ID: 19696795
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. An ADAMTS17 splice donor site mutation in dogs with primary lens luxation.
    Farias FH; Johnson GS; Taylor JF; Giuliano E; Katz ML; Sanders DN; Schnabel RD; McKay SD; Khan S; Gharahkhani P; O'Leary CA; Pettitt L; Forman OP; Boursnell M; McLaughlin B; Ahonen S; Lohi H; Hernandez-Merino E; Gould DJ; Sargan DR; Mellersh C
    Invest Ophthalmol Vis Sci; 2010 Sep; 51(9):4716-21. PubMed ID: 20375329
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features.
    Evans DR; Green JS; Fahiminiya S; Majewski J; Fernandez BA; Deardorff MA; Johnson GJ; Whelan JH; Hubmacher D; Apte SS; ; Woods MO
    Sci Rep; 2020 Jul; 10(1):10827. PubMed ID: 32616716
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The ADAMTS/Fibrillin Connection: Insights into the Biological Functions of ADAMTS10 and ADAMTS17 and Their Respective Sister Proteases.
    Karoulias SZ; Taye N; Stanley S; Hubmacher D
    Biomolecules; 2020 Apr; 10(4):. PubMed ID: 32290605
    [TBL] [Abstract][Full Text] [Related]  

  • 15. ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome.
    Dagoneau N; Benoist-Lasselin C; Huber C; Faivre L; Mégarbané A; Alswaid A; Dollfus H; Alembik Y; Munnich A; Legeai-Mallet L; Cormier-Daire V
    Am J Hum Genet; 2004 Nov; 75(5):801-6. PubMed ID: 15368195
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Unusual life cycle and impact on microfibril assembly of ADAMTS17, a secreted metalloprotease mutated in genetic eye disease.
    Hubmacher D; Schneider M; Berardinelli SJ; Takeuchi H; Willard B; Reinhardt DP; Haltiwanger RS; Apte SS
    Sci Rep; 2017 Feb; 7():41871. PubMed ID: 28176809
    [TBL] [Abstract][Full Text] [Related]  

  • 17. More than meets the eye: The evolving phenotype of Weill-Marchesani syndrome-diagnostic confusion with geleophysic dysplasia.
    Pimienta AL; Wilcox WR; Reinstein E
    Am J Med Genet A; 2013 Dec; 161A(12):3126-9. PubMed ID: 24039088
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel homozygous
    Miao N; Zhang Y; Liao JY; Zhou L; He JC; Yang RQ; Liu XY; Tang L
    Int J Ophthalmol; 2023; 16(5):694-699. PubMed ID: 37206179
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Potential Modifying Loci Associated With Primary Lens Luxation, Pedal Hyperkeratosis, and Ocular Phenotypes in Miniature Bull Terriers.
    Gharahkhani P; O'Leary CA; Duffy DL; Kyaw-Tanner M
    Invest Ophthalmol Vis Sci; 2015 Dec; 56(13):8288-96. PubMed ID: 26720482
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.