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Journal Abstract Search

132 related items for PubMed ID: 7917124

  • 21. Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients.
    Ferrero GB, Biamino E, Sorasio L, Banaudi E, Peruzzi L, Forzano S, di Cantogno LV, Silengo MC.
    Eur J Med Genet; 2007; 50(5):327-37. PubMed ID: 17625998
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  • 22. Three young children with Smith-Magenis syndrome: their distinct, recognisable behavioural phenotype as the most important clinical symptoms.
    Willekens D, De Cock P, Fryns JP.
    Genet Couns; 2000; 11(2):103-10. PubMed ID: 10893661
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  • 23. [WHO growth standards for infants and young children].
    de Onis M, Garza C, Onyango AW, Rolland-Cachera MF, le Comité de nutrition de la Société française de pédiatrie.
    Arch Pediatr; 2009 Jan; 16(1):47-53. PubMed ID: 19036567
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  • 25. 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; 48(7):582-8. PubMed ID: 16780628
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  • 28. Follow-up of a patient with partial trisomy 9p and partial monosomy 8p; description of physical and psychosocial development.
    Ausems MG, Van Spijker HG, Dijkhuis HJ, Swanenburg De Veye HF, Bijlsma JB.
    Genet Couns; 1996 Jul; 7(1):61-5. PubMed ID: 8652090
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  • 31. Chronic renal failure in a patient with Sotos syndrome due to autosomal dominant polycystic kidney disease.
    Cefle K, Yildiz A, Palanduz S, Ozturk S, Ozbey N, Kylyçaslan I, Colakoglu S, Balci C.
    Int J Clin Pract; 2002 May; 56(4):316-8. PubMed ID: 12074220
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  • 32. [Considerations apropos of 7 cases of cerebral gigantism (Sotos' syndrome)].
    Zappella M, Boscherini B.
    Pediatrie; 1973 Jun; 28(4):419-28. PubMed ID: 4727601
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  • 33. Sotos syndrome and cutis laxa.
    Robertson SP, Bankier A.
    J Med Genet; 1999 Jan; 36(1):51-6. PubMed ID: 9950366
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  • 37. 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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  • 38. Costello syndrome in two siblings and minor manifestations in their mother. Further evidence for autosomal dominant inheritance?
    Ioan DM, Fryns JP.
    Genet Couns; 2002 Jan 01; 13(3):353-6. PubMed ID: 12416645
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  • 39. Fragile X mental retardation syndrome: from pathogenesis to diagnostic issues.
    Mandel JL, Biancalana V.
    Growth Horm IGF Res; 2004 Jun 01; 14 Suppl A():S158-65. PubMed ID: 15135801
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  • 40. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.
    Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Brailey LL, Zuberi SM, Carey JC.
    Pediatrics; 2008 Feb 01; 121(2):404-10. PubMed ID: 18245432
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