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Journal Abstract Search

117 related items for PubMed ID: 37615310

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  • 3. An intronic alteration of the fibroblast growth factor 10 gene causing ALSG-(aplasia of lacrimal and salivary glands) syndrome.
    Scheckenbach K, Balz V, Wagenmann M, Hoffmann TK.
    BMC Med Genet; 2008 Dec 22; 9():114. PubMed ID: 19102732
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  • 5. FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG).
    Entesarian M, Dahlqvist J, Shashi V, Stanley CS, Falahat B, Reardon W, Dahl N.
    Eur J Hum Genet; 2007 Mar 22; 15(3):379-82. PubMed ID: 17213838
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  • 6. Novel FGF10 mutation in autosomal dominant aplasia of lacrimal and salivary glands.
    Seymen F, Koruyucu M, Toptanci IR, Balsak S, Dedeoglu S, Celepkolu T, Shin TJ, Hyun HK, Kim YJ, Kim JW.
    Clin Oral Investig; 2017 Jan 22; 21(1):167-172. PubMed ID: 26955834
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  • 8. Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands.
    Entesarian M, Matsson H, Klar J, Bergendal B, Olson L, Arakaki R, Hayashi Y, Ohuchi H, Falahat B, Bolstad AI, Jonsson R, Wahren-Herlenius M, Dahl N.
    Nat Genet; 2005 Feb 22; 37(2):125-7. PubMed ID: 15654336
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  • 9. New pathogenic variant in the FGF10 gene in the agenesis of lacrimal and salivary gland syndrome: Ophthalmological and genetic study.
    Rodrigo MJ, Idoipe M, Izquierdo S, Satue M, Mateo A, Sanchez A, Garcia-Martin E, Pablo L.
    Ophthalmic Genet; 2018 Feb 22; 39(1):125-128. PubMed ID: 29053399
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  • 15. NR5A1 c.991-1G > C splice-site variant causes familial 46,XY partial gonadal dysgenesis with incomplete penetrance.
    Laan M, Kasak L, Timinskas K, Grigorova M, Venclovas Č, Renaux A, Lenaerts T, Punab M.
    Clin Endocrinol (Oxf); 2021 Apr 22; 94(4):656-666. PubMed ID: 33296094
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  • 17. Clinical Characteristics of POC1B-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants.
    Weisschuh N, Mazzola P, Bertrand M, Haack TB, Wissinger B, Kohl S, Stingl K.
    Int J Mol Sci; 2021 May 20; 22(10):. PubMed ID: 34065499
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  • 18. Identification of a novel mutation in the FGF10 gene in a Chinese family with obvious congenital lacrimal duct dysplasia in lacrimo-auriculo-dento-digital syndrome.
    Zhang HY, Zhang CY, Wang F, Tao H, Tian YP, Zhou XB, Bai F, Wang P, Cui JY, Zhang MJ, Wang LH.
    Int J Ophthalmol; 2023 May 20; 16(4):499-504. PubMed ID: 37077496
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  • 19. Variants in FGF10 cause early onset of severe childhood interstitial lung disease: A detailed description of four affected children.
    Schütz K, Schmidt A, Schwerk N, Renz DM, Gerard B, Schaefer E, Antal MC, Peters S, Griese M, Rapp CK, Engels H, Cremer K, Bergmann AK, Schmidt G, Auber B, Kamp JC, Laenger F, von Hardenberg S.
    Pediatr Pulmonol; 2023 Nov 20; 58(11):3095-3105. PubMed ID: 37560881
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