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Journal Abstract Search

187 related items for PubMed ID: 36150098

  • 1. Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3.
    Simsek-Kiper PO, Jacob P, Upadhyai P, Taşkıran ZE, Guleria VS, Karaosmanoglu B, Imren G, Gocmen R, Bhavani GS, Kausthubham N, Shah H, Utine GE, Boduroglu K, Girisha KM.
    Hum Mutat; 2022 Dec; 43(12):2116-2129. PubMed ID: 36150098
    [Abstract] [Full Text] [Related]

  • 2. Early insights into the role of Exoc6B associated with spondyloepimetaphyseal dysplasia with joint laxity type 3 in primary ciliogenesis and chondrogenic differentiation in vitro.
    Guleria VS, Quadri N, Prasad K, Das R, Upadhyai P.
    Mol Biol Rep; 2024 Feb 02; 51(1):274. PubMed ID: 38305850
    [Abstract] [Full Text] [Related]

  • 3. Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type.
    Campos-Xavier B, Rogers RC, Niel-Bütschi F, Ferreira C, Unger S, Spranger J, Superti-Furga A.
    Am J Med Genet A; 2018 Dec 02; 176(12):2934-2935. PubMed ID: 30284759
    [No Abstract] [Full Text] [Related]

  • 4.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Bhavani GS, Singh S, Girisha KM.
    ; 1993 Dec 02. PubMed ID: 37229238
    [Abstract] [Full Text] [Related]

  • 5. A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene.
    Girisha KM, Kortüm F, Shah H, Alawi M, Dalal A, Bhavani GS, Kutsche K.
    Eur J Hum Genet; 2016 Aug 02; 24(8):1206-10. PubMed ID: 26669664
    [Abstract] [Full Text] [Related]

  • 6. The manifestations and natural history of spondylo-epi-metaphyseal dysplasia with joint laxity.
    Beighton P, Gericke G, Kozlowski K, Grobler L.
    Clin Genet; 1984 Oct 02; 26(4):308-17. PubMed ID: 6499247
    [Abstract] [Full Text] [Related]

  • 7. Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia.
    Reilly ML, Ain NU, Muurinen M, Tata A, Huber C, Simon M, Ishaq T, Shaw N, Rusanen S, Pekkinen M, Högler W, Knapen MFCM, van den Born M, Saunier S, Naz S, Cormier-Daire V, Benmerah A, Makitie O.
    J Bone Miner Res; 2022 Sep 02; 37(9):1642-1652. PubMed ID: 35748595
    [Abstract] [Full Text] [Related]

  • 8. Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type.
    Min BJ, Kim N, Chung T, Kim OH, Nishimura G, Chung CY, Song HR, Kim HW, Lee HR, Kim J, Kang TH, Seo ME, Yang SD, Kim DH, Lee SB, Kim JI, Seo JS, Choi JY, Kang D, Kim D, Park WY, Cho TJ.
    Am J Hum Genet; 2011 Dec 09; 89(6):760-6. PubMed ID: 22152677
    [Abstract] [Full Text] [Related]

  • 9. Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype.
    Grosch M, Grüner B, Spranger S, Stütz AM, Rausch T, Korbel JO, Seelow D, Nürnberg P, Sticht H, Lausch E, Zabel B, Winterpacht A, Tagariello A.
    Matrix Biol; 2013 Dec 09; 32(7-8):387-92. PubMed ID: 23665482
    [Abstract] [Full Text] [Related]

  • 10. Identification of kinesin family member (KIF22) homozygous variants in spondyloepimetaphyseal dysplasia with joint laxity, lepdodactylic type and demonstration of proteoglycan biosynthesis impairment.
    Dubail J, Rondeau S, Michot C, Baujat G, Capri Y, Thévenon J, Charpie M, Pejin Z, Phan G, Huber C, Cormier-Daire V.
    J Bone Miner Res; 2024 Apr 19; 39(3):287-297. PubMed ID: 38477767
    [Abstract] [Full Text] [Related]

  • 11. An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO.
    Narayanan DL, Shukla A, Kausthubham N, Bhavani GS, Shah H, Mortier G, Girisha KM.
    Am J Med Genet A; 2019 Sep 19; 179(9):1709-1717. PubMed ID: 31250547
    [Abstract] [Full Text] [Related]

  • 12. Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds.
    Kausar M, Ain NU, Hayat F, Fatima H, Azim S, Ullah H, Mushtaq M, Khalid S, Hussain S, Naz S, Janjua J, Amjad SB, Baig RM, Makitie O, Qamar R, Ikegawa S, Gen N, Khor CC, Foo JN, Siddiqi S.
    BMC Musculoskelet Disord; 2022 Aug 30; 23(1):818. PubMed ID: 36042462
    [Abstract] [Full Text] [Related]

  • 13. Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.
    Evers C, Maas B, Koch KA, Jauch A, Janssen JW, Sutter C, Parker MJ, Hinderhofer K, Moog U.
    Am J Med Genet A; 2014 Dec 30; 164A(12):3088-94. PubMed ID: 25256811
    [Abstract] [Full Text] [Related]

  • 14. Expanding the spectrum of skeletal dysplasia with immunodeficiency: a commentary on identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.
    Notarangelo LD.
    J Hum Genet; 2017 Aug 30; 62(8):737-738. PubMed ID: 28446799
    [No Abstract] [Full Text] [Related]

  • 15. A missense mutation in DDRGK1 gene associated to Shohat-type spondyloepimetaphyseal dysplasia: Two case reports and a review of literature.
    Franceschi R, Iascone M, Maitz S, Marchetti D, Mariani M, Selicorni A, Soffiati M, Maines E.
    Am J Med Genet A; 2022 Aug 30; 188(8):2434-2437. PubMed ID: 35670300
    [Abstract] [Full Text] [Related]

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  • 18. Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.
    Guo L, Elcioglu NH, Mizumoto S, Wang Z, Noyan B, Albayrak HM, Yamada S, Matsumoto N, Miyake N, Nishimura G, Ikegawa S.
    J Hum Genet; 2017 Aug 30; 62(8):797-801. PubMed ID: 28331220
    [Abstract] [Full Text] [Related]

  • 19. COL2A1-related skeletal dysplasias with predominant metaphyseal involvement.
    Walter K, Tansek M, Tobias ES, Ikegawa S, Coucke P, Hyland J, Mortier G, Iwaya T, Nishimura G, Superti-Furga A, Unger S.
    Am J Med Genet A; 2007 Jan 15; 143A(2):161-7. PubMed ID: 17163530
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