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Journal Abstract Search

180 related items for PubMed ID: 16192740

  • 1. Genetic analysis of tall stature.
    Kant SG, Wit JM, Breuning MH.
    Horm Res; 2005; 64(3):149-56. PubMed ID: 16192740
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  • 2. Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.
    Türkmen S, Gillessen-Kaesbach G, Meinecke P, Albrecht B, Neumann LM, Hesse V, Palanduz S, Balg S, Majewski F, Fuchs S, Zschieschang P, Greiwe M, Mennicke K, Kreuz FR, Dehmel HJ, Rodeck B, Kunze J, Tinschert S, Mundlos S, Horn D.
    Eur J Hum Genet; 2003 Nov; 11(11):858-65. PubMed ID: 14571271
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  • 3. Clinical and molecular overlap in overgrowth syndromes.
    Baujat G, Rio M, Rossignol S, Sanlaville D, Lyonnet S, Le Merrer M, Munnich A, Gicquel C, Colleaux L, Cormier-Daire V.
    Am J Med Genet C Semin Med Genet; 2005 Aug 15; 137C(1):4-11. PubMed ID: 16010674
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  • 4. Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome.
    Chen CP.
    Taiwan J Obstet Gynecol; 2012 Jun 15; 51(2):186-91. PubMed ID: 22795092
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  • 6. Tall stature in children and adolescents.
    Urakami T.
    Minerva Pediatr; 2020 Dec 15; 72(6):472-483. PubMed ID: 32748612
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  • 8. Two cases of Sotos syndrome with novel mutations of the NSD1 gene.
    Fryssira H, Drossatou P, Sklavou R, Barambouti F, Manolaki N.
    Genet Couns; 2010 Dec 15; 21(1):53-9. PubMed ID: 20420030
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  • 9. [Diagnosis and therapy of gigantism].
    Sorgo W, Teller WM.
    Klin Padiatr; 1987 Dec 15; 199(2):63-9. PubMed ID: 3586561
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  • 11. Tall stature and duplication of the insulin-like growth factor I receptor gene.
    Kant SG, Kriek M, Walenkamp MJ, Hansson KB, van Rhijn A, Clayton-Smith J, Wit JM, Breuning MH.
    Eur J Med Genet; 2007 Dec 15; 50(1):1-10. PubMed ID: 17056309
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  • 13. Psychosocial, cognitive, and motor functioning in patients with suspected Sotos syndrome: a comparison between patients with and without NSD1 gene alterations.
    de Boer L, Röder I, Wit JM.
    Dev Med Child Neurol; 2006 Jul 15; 48(7):582-8. PubMed ID: 16780628
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  • 16. MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported.
    Fagali C, Kok F, Nicola P, Kim C, Bertola D, Albano L, Koiffmann CP.
    Eur J Med Genet; 2009 Jul 15; 52(5):333-6. PubMed ID: 19596467
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  • 17. How to investigate a child with excessive growth?
    Coutant R, Donzeau A, Decrequy A, Louvigné M, Bouhours-Nouet N.
    Ann Endocrinol (Paris); 2017 Jun 15; 78(2):98-103. PubMed ID: 28483364
    [Abstract] [Full Text] [Related]

  • 18. Genotype-phenotype correlation in patients suspected of having Sotos syndrome.
    de Boer L, Kant SG, Karperien M, van Beers L, Tjon J, Vink GR, van Tol D, Dauwerse H, le Cessie S, Beemer FA, van der Burgt I, Hamel BC, Hennekam RC, Kuhnle U, Mathijssen IB, Veenstra-Knol HE, Stumpel CT, Breuning MH, Wit JM.
    Horm Res; 2004 Jun 15; 62(4):197-207. PubMed ID: 15452385
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  • 19. Exclusion of growth factor gene mutations as a common cause of Sotos syndrome.
    Lin AE, Liu Q, Mannheim GB, Darras BT.
    Am J Med Genet; 2001 Jan 01; 98(1):101-2. PubMed ID: 11426446
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  • 20. Three novel mutations in greek sotos patients with rare clinical manifestations.
    Leventopoulos G, Kitsiou-Tzeli S, Psoni S, Mavrou A, Kanavakis E, Willems P, Fryssira H.
    Horm Res; 2009 Jan 01; 71(1):45-51. PubMed ID: 19039236
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