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Journal Abstract Search

135 related items for PubMed ID: 39044700

  • 1. Geleophysic dysplasia and Weill-Marchesani syndrome: ADAMTSL2 a possible common gene.
    Duzenli T, Uysal BS, Ulas B, Kayhan G.
    Ophthalmic Genet; 2024 Oct; 45(5):499-505. PubMed ID: 39044700
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia.
    Cheng SW, Luk HM, Chu YWY, Tung YL, Kwan EY, Lo IF, Chung BH.
    Eur J Med Genet; 2018 Apr; 61(4):219-224. PubMed ID: 29191498
    [Abstract] [Full Text] [Related]

  • 4. Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia.
    Wang Y, Zhang H, Ye J, Han L, Gu X.
    J Hum Genet; 2014 Oct; 59(10):563-7. PubMed ID: 25142510
    [Abstract] [Full Text] [Related]

  • 5. Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.
    McInerney-Leo AM, Le Goff C, Leo PJ, Kenna TJ, Keith P, Harris JE, Steer R, Bole-Feysot C, Nitschke P, Kielty C, Brown MA, Zankl A, Duncan EL, Cormier-Daire V.
    J Med Genet; 2016 Jul; 53(7):457-64. PubMed ID: 27068007
    [Abstract] [Full Text] [Related]

  • 6. 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
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  • 9. ADAMTS proteins as modulators of microfibril formation and function.
    Hubmacher D, Apte SS.
    Matrix Biol; 2015 Sep; 47():34-43. PubMed ID: 25957949
    [Abstract] [Full Text] [Related]

  • 10. Case report: A homozygous ADAMTSL2 missense variant causes geleophysic dysplasia with high similarity to Weill-Marchesani syndrome.
    Li M, Li Y, Liu H, Zhou H, Xie W, Peng Q.
    Front Genet; 2022 Sep; 13():1014188. PubMed ID: 36246610
    [Abstract] [Full Text] [Related]

  • 11. Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.
    Cecchi A, Ogawa N, Martinez HR, Carlson A, Fan Y, Penny DJ, Guo DC, Eisenberg S, Safi H, Estrera A, Lewis RA, Meyers D, Milewicz DM.
    Am J Med Genet A; 2013 Sep; 161A(9):2305-10. PubMed ID: 23897642
    [Abstract] [Full Text] [Related]

  • 12. From tall to short: the role of TGFβ signaling in growth and its disorders.
    Le Goff C, Cormier-Daire V.
    Am J Med Genet C Semin Med Genet; 2012 Aug 15; 160C(3):145-53. PubMed ID: 22791552
    [Abstract] [Full Text] [Related]

  • 13. Limb- and tendon-specific Adamtsl2 deletion identifies a role for ADAMTSL2 in tendon growth in a mouse model for geleophysic dysplasia.
    Hubmacher D, Taye N, Balic Z, Thacker S, Adams SM, Birk DE, Schweitzer R, Apte SS.
    Matrix Biol; 2019 Sep 15; 82():38-53. PubMed ID: 30738849
    [Abstract] [Full Text] [Related]

  • 14. Acromelic dysplasias: how rare musculoskeletal disorders reveal biological functions of extracellular matrix proteins.
    Stanley S, Balic Z, Hubmacher D.
    Ann N Y Acad Sci; 2021 Apr 15; 1490(1):57-76. PubMed ID: 32880985
    [Abstract] [Full Text] [Related]

  • 15. 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 15; 234():109606. PubMed ID: 37506754
    [Abstract] [Full Text] [Related]

  • 16. A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2.
    Li D, Dong H, Zheng H, Song J, Li X, Jin Y, Liu Y, Yang Y.
    Eur J Med Genet; 2017 Dec 15; 60(12):685-689. PubMed ID: 28917829
    [Abstract] [Full Text] [Related]

  • 17. Fibrillin-1 Gene Variant p.Gly1754Ser Associated With Weill-Marchesani Syndrome Type 2: A Case Report.
    Tamhankar PM, Menon P, Mane SV, Muthu Kumar A.
    Cureus; 2024 Sep 15; 16(9):e69448. PubMed ID: 39421111
    [Abstract] [Full Text] [Related]

  • 18. Genetic and molecular aspects of acromelic dysplasia.
    Le Goff C, Cormier-Daire V.
    Pediatr Endocrinol Rev; 2009 Mar 15; 6(3):418-23. PubMed ID: 19396027
    [Abstract] [Full Text] [Related]

  • 19. Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions.
    Cain SA, McGovern A, Baldwin AK, Baldock C, Kielty CM.
    PLoS One; 2012 Mar 15; 7(11):e48634. PubMed ID: 23133647
    [Abstract] [Full Text] [Related]

  • 20. 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 15; 64(7):681-687. PubMed ID: 31019231
    [Abstract] [Full Text] [Related]

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