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326 related items for PubMed ID: 16829351

  • 1. A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity.
    Varela MC, Simões-Sato AY, Kim CA, Bertola DR, De Castro CI, Koiffmann CP.
    Eur J Med Genet; 2006; 49(4):298-305. PubMed ID: 16829351
    [Abstract] [Full Text] [Related]

  • 2. Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems.
    D'Angelo CS, Da Paz JA, Kim CA, Bertola DR, Castro CI, Varela MC, Koiffmann CP.
    Eur J Med Genet; 2006; 49(6):451-60. PubMed ID: 16564757
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  • 4. Copy number variation (CNV) analysis and mutation analysis of the 6q14.1-6q16.3 genes SIM1 and MRAP2 in Prader Willi like patients.
    Geets E, Zegers D, Beckers S, Verrijken A, Massa G, Van Hoorenbeeck K, Verhulst S, Van Gaal L, Van Hul W.
    Mol Genet Metab; 2016 Mar; 117(3):383-8. PubMed ID: 26795956
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  • 6. Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
    El Khattabi L, Guimiot F, Pipiras E, Andrieux J, Baumann C, Bouquillon S, Delezoide AL, Delobel B, Demurger F, Dessuant H, Drunat S, Dubourg C, Dupont C, Faivre L, Holder-Espinasse M, Jaillard S, Journel H, Lyonnet S, Malan V, Masurel A, Marle N, Missirian C, Moerman A, Moncla A, Odent S, Palumbo O, Palumbo P, Ravel A, Romana S, Tabet AC, Valduga M, Vermelle M, Carella M, Dupont JM, Verloes A, Benzacken B, Delahaye A.
    Eur J Hum Genet; 2015 Aug; 23(8):1010-8. PubMed ID: 25351778
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  • 8. Molecular study of the Prader-Willi syndrome: deletion, RFLP, and phenotype analyses of 50 patients.
    Hamabe J, Fukushima Y, Harada N, Abe K, Matsuo N, Nagai T, Yoshioka A, Tonoki H, Tsukino R, Niikawa N.
    Am J Med Genet; 1991 Oct 01; 41(1):54-63. PubMed ID: 1683159
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  • 10. Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype.
    Faivre L, Cormier-Daire V, Lapierre JM, Colleaux L, Jacquemont S, Geneviéve D, Saunier P, Munnich A, Turleau C, Romana S, Prieur M, De Blois MC, Vekemans M.
    J Med Genet; 2002 Aug 01; 39(8):594-6. PubMed ID: 12161602
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  • 11. Obsessive-compulsive symptoms in Prader-Willi and "Prader-Willi-Like" patients.
    State MW, Dykens EM, Rosner B, Martin A, King BH.
    J Am Acad Child Adolesc Psychiatry; 1999 Mar 01; 38(3):329-34. PubMed ID: 10087695
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  • 12. Duplication of proximal 15q as a cause of Prader-Willi syndrome.
    Pettigrew AL, Gollin SM, Greenberg F, Riccardi VM, Ledbetter DH.
    Am J Med Genet; 1987 Dec 01; 28(4):791-802. PubMed ID: 3688017
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  • 13. Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype.
    Bonaglia MC, Ciccone R, Gimelli G, Gimelli S, Marelli S, Verheij J, Giorda R, Grasso R, Borgatti R, Pagone F, Rodrìguez L, Martinez-Frias ML, van Ravenswaaij C, Zuffardi O.
    Eur J Hum Genet; 2008 Dec 01; 16(12):1443-9. PubMed ID: 18648397
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  • 14. Imprinting center analysis in Prader-Willi and Angelman syndrome patients with typical and atypical phenotypes.
    Camprubí C, Coll MD, Villatoro S, Gabau E, Kamli A, Martínez MJ, Poyatos D, Guitart M.
    Eur J Med Genet; 2007 Dec 01; 50(1):11-20. PubMed ID: 17095305
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  • 15. Prader-Willi syndrome.
    Cassidy SB, Ledbetter DH.
    Neurol Clin; 1989 Feb 01; 7(1):37-54. PubMed ID: 2646521
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  • 16. Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features.
    Bonnefond A, Raimondo A, Stutzmann F, Ghoussaini M, Ramachandrappa S, Bersten DC, Durand E, Vatin V, Balkau B, Lantieri O, Raverdy V, Pattou F, Van Hul W, Van Gaal L, Peet DJ, Weill J, Miller JL, Horber F, Goldstone AP, Driscoll DJ, Bruning JB, Meyre D, Whitelaw ML, Froguel P.
    J Clin Invest; 2013 Jul 01; 123(7):3037-41. PubMed ID: 23778136
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  • 19. Molecular diagnosis of Prader-Willi syndrome.
    Pangkanon S.
    J Med Assoc Thai; 2003 Aug 01; 86 Suppl 3():S510-6. PubMed ID: 14700141
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  • 20. Prader-Willi syndrome with an unusually large 15q deletion due to an unbalanced translocation t(4;15).
    Varela MC, Lopes GM, Koiffmann CP.
    Ann Genet; 2004 Aug 01; 47(3):267-73. PubMed ID: 15337472
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