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Journal Abstract Search

163 related items for PubMed ID: 35427807

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  • 2. A novel variant in GNPNAT1 gene causing a spondylo-epi-metaphyseal dysplasia resembling PGM3-Desbuquois like dysplasia.
    Elhossini RM, Ahmed HA, Otaify G, Ghorab RM, Amr K, Aglan M.
    Am J Med Genet A; 2022 Oct; 188(10):2861-2868. PubMed ID: 36097642
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  • 3. Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1.
    Ain NU, Baroncelli M, Costantini A, Ishaq T, Taylan F, Nilsson O, Mäkitie O, Naz S.
    J Med Genet; 2021 May; 58(5):351-356. PubMed ID: 32591345
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  • 4. Rhizomelic spondyloepimetaphyseal dysplasia.
    Bieganski T, Lipczyk Z, Kozlowski K.
    Clin Dysmorphol; 2001 Oct; 10(4):285-8. PubMed ID: 11666005
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  • 5. The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function.
    Girisha KM, von Elsner L, Neethukrishna K, Muranjan M, Shukla A, Bhavani GS, Nishimura G, Kutsche K, Mortier G.
    Hum Mutat; 2019 Mar; 40(3):299-309. PubMed ID: 30488656
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  • 7. UFSP2-related spondyloepimetaphyseal dysplasia: A confirmatory report.
    Zhang G, Tang S, Wang H, Pan H, Zhang W, Huang Y, Kong J, Wang Y, Gu J, Wang Y.
    Eur J Med Genet; 2020 Nov; 63(11):104021. PubMed ID: 32755715
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  • 10. A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterization.
    Isidor B, Geffroy L, de Courtivron B, Le Caignec C, Thiel CT, Mortier G, Cormier-Daire V, David A, Toutain A.
    Am J Med Genet A; 2013 Oct; 161A(10):2645-51. PubMed ID: 23956136
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  • 12. Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphology.
    Aagaard Nolting L, Holling T, Nishimura G, Ek J, Bak M, Ljungberg M, Kutsche K, Hove H.
    Clin Genet; 2024 Sep; 106(3):360-366. PubMed ID: 38801004
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  • 13. Spondyloepimetaphyseal dysplasia (SEMD) Shohat type.
    Figuera LE, Ramírez-Dueñas ML, Gallegos-Arreola MP, Cantú JM.
    Am J Med Genet; 1994 Jul 01; 51(3):213-5. PubMed ID: 8074146
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  • 14. A novel homozygous missense variant in MATN3 causes spondylo-epimetaphyseal dysplasia Matrilin 3 type in a consanguineous family.
    Yasin S, Mustafa S, Ayesha A, Latif M, Hassan M, Faisal M, Makitie O, Iqbal F, Naz S.
    Eur J Med Genet; 2020 Aug 01; 63(8):103958. PubMed ID: 32470407
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  • 15. Spondyloepimetaphyseal dysplasia-Maroteaux type due to dominant TRPV4 mutation: expanding the phenotype with a case report.
    Uzman CY, Çankaya T, Güleryüz H, Ülgenalp A, Bozkaya ÖG.
    Skeletal Radiol; 2023 Jan 01; 52(1):115-118. PubMed ID: 35776137
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  • 16. MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO).
    Kennedy AM, Inada M, Krane SM, Christie PT, Harding B, López-Otín C, Sánchez LM, Pannett AA, Dearlove A, Hartley C, Byrne MH, Reed AA, Nesbit MA, Whyte MP, Thakker RV.
    J Clin Invest; 2005 Oct 01; 115(10):2832-42. PubMed ID: 16167086
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  • 17. A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia.
    Tysoe C, Saunders J, White L, Hills N, Nicol M, Evans G, Cole T, Chapman S, Pope FM.
    QJM; 2003 Sep 01; 96(9):663-71. PubMed ID: 12925722
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  • 19. 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 01; 62(8):797-801. PubMed ID: 28331220
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  • 20. A homozygous nonsense variant in DYM underlies Dyggve-Melchior-Clausen syndrome associated with ectodermal features.
    Abdullah, Shah PW, Nawaz S, Hussain S, Ullah A, Basit S, Ahmad W.
    Mol Biol Rep; 2020 Sep 01; 47(9):7083-7088. PubMed ID: 32886330
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