| 1 | DEL17Q12, RCAD
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| Recurrent Transmission of a 17q12 Microdeletion and a Variable Clinical Spectrum.
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| George AM, Love DR, Hayes I, Tsang B.
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| Mol Syndromol 2(2):72-75. Epub 2011 Dec 31.
2012
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| 2 | DEL17Q12, RCAD
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| Prenatally diagnosed 17q12 microdeletion syndrome with a novel association with congenital diaphragmatic hernia.
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| Hendrix NW, Clemens M, Canavan TP, Surti U, Rajkovic A.
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| Fetal Diagn Ther 31(2):129-33. Epub 2011 Dec 14.
2012
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| 3 | DEL17Q12, HNF1B, MODY5, RCAD
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| Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.
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| Nagamani SC, Erez A, Shen J, Li C, Roeder E, Cox S, Karaviti L, Pearson M, Kang SH, Sahoo T, Lalani SR, Stankiewicz P, Sutton VR, Cheung SW.
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| Eur J Hum Genet 18(3):278-84. Epub 2009 Oct 21.PMID: 19844256 2010
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| 4 | DEL17Q12, HNF1B, LHX1, RCAD
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| Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.
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| Moreno-De-Luca D; SGENE Consortium, Mulle JG; Simons Simplex Collection Genetics Consortium, Kaminsky EB, Sanders SJ; GeneSTAR, Myers SM, Adam MP, Pakula AT, Eisenhauer NJ, Uhas K, Weik L, Guy L, Care ME, Morel CF, Boni C, Salbert BA, Chandrareddy A, Demmer LA, Chow EW, Surti U, Aradhya S, Pickering DL, Golden DM, Sanger WG, Aston E, Brothman AR, Gliem TJ, Thorland EC, Ackley T, Iyer R, Huang S, Barber JC, Crolla JA, Warren ST, Martin CL, Ledbetter DH.
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| Am J Hum Genet 87(5):618-30. Epub 2010 Nov 4.PMID: 21055719 2010
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| 5 | DEL17Q12, DEL17QO, RCAD
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| Macrocephaly, growth failure, translucent skin, renal cysts, coarctation of the aorta, and cholestasis: novel features of a new syndrome - the del17q12 syndrome.
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| Szybowska M, Li C.
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| Clin Dysmorphol 18(3):149-50. No abstract available. 2009
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| 6 | DEL17Q12, HNF1B, MODY5, RCAD
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| Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy.
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| Mefford HC, Clauin S, Sharp AJ, Moller RS, Ullmann R, Kapur R, Pinkel D, Cooper GM, Ventura M, Ropers HH, Tommerup N, Eichler EE, Bellanne-Chantelot C.
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| Am J Hum Genet 81(5):1057-69. Epub 2007 Sep 26. 2007
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| 7 | RCAD, MODY5, HNF1B
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| Mutations in hepatocyte nuclear factor-1beta and their related phenotypes.
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| Edghill EL, Bingham C, Ellard S, Hattersley AT.
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| J Med Genet 43(1):84-90. Epub 2005 Jun 1. 2006
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| 8 | HNF1B, MODY5, RCAD
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| Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort.
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| Ulinski T, Lescure S, Beaufils S, Guigonis V, Decramer S, Morin D, Clauin S, Desch�nes G, Bouissou F, Bensman A, Bellann�-Chantelot C.
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| J Am Soc Nephrol 17(2):497-503. Epub 2005 Dec 21. 2006
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| 9 | DEL17Q12, HNF1B, MODY5, RCAD
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| Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5.
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| Bellanne-Chantelot C, Clauin S, Chauveau D, Collin P, Daumont M, Douillard C, Dubois-Laforgue D, Dusselier L, Gautier JF, Jadoul M, Laloi-Michelin M, Jacquesson L, Larger E, Louis J, Nicolino M, Subra JF, Wilhem JM, Young J, Velho G, Timsit J.
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| Diabetes 54(11):3126-32. 2005
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| 10 | RCAD, MODY5, HNF1B
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| Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1beta.
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| Bingham C, Hattersley AT.
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| Nephrol Dial Transplant 19(11):2703-8. Review. No abstract available. 2004
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| 11 | RCAD, HNF1B
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| Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease.
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| Bingham C, Bulman MP, Ellard S, Allen LI, Lipkin GW, Hoff WG, Woolf AS, Rizzoni G, Novelli G, Nicholls AJ, Hattersley AT.
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| Am J Hum Genet 68(1):219-24. 2001
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| 12 | RCAD, HNF1B
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| Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta.
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| Bingham C, Ellard S, Allen L, Bulman M, Shepherd M, Frayling T, Berry PJ, Clark PM, Lindner T, Bell GI, Ryffel GU, Nicholls AJ, Hattersley AT.
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| Kidney Int 57(3):898-907. 2000
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| 13 | RCAD, HNF1B
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| Frameshift mutation, A263fsinsGG, in the hepatocyte nuclear factor-1beta gene associated with diabetes and renal dysfunction.
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| Nishigori H, Yamada S, Kohama T, Tomura H, Sho K, Horikawa Y, Bell GI, Takeuchi T, Takeda J.
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| Diabetes 47(8):1354-5. No abstract available. 1998
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