| 1 | TRI6, UPD6P
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| Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings.
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| Cajaiba MM, Witchel S, Madan-Khetarpal S, Hoover J, Hoffner L, Macpherson T, Surti U.
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| Am J Med Genet A 155A(8):1996-2002. doi: 10.1002/ajmg.a.34106. Epub 2011 Jul 7.
2011
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| 2 | IFNGR1, IFNGR1D, UPD6P
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| Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency.
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| Prando C, Boisson-Dupuis S, Grant AV, Kong XF, Bustamante J, Feinberg J, Chapgier A, Rose Y, Jannière L, Rizzardi E, Zhang Q, Shanahan CM, Viollet L, Lyonnet S, Abel L, Ruga EM, Casanova JL.
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| Am J Med Genet A 152A(3):622-9.PMID: 20186794 2010
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| 3 | TNDM, UPD6P
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| Partial paternal uniparental disomy of chromosome 6 in monozygotic twins with transient neonatal diabetes mellitus and macroglossia.
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| Suzuki S, Fujisawa D, Hashimoto K, Asano T, Maimaiti M, Matsuo K, Tanahashi Y, Mukai T, Fujieda K.
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| Clin Genet lin Genet. 2010 Mar 19. [Epub ahead of print]PMID: 20412110 2010
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| 4 | UPD6P, UPD7M, SRS11, BWS, UPD14M, UPD14P, UPD16, UPD22, UPDXM,
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| Uniparental disomy (UPD) other than 15: Phenotypes and bibliography updated.
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| Kotzot D, Utermann G.
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| Am J Med Genet A 136(3):287-305. 2005
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| 5 | TNDM, UPD6P
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| Transient neonatal diabetes, a disorder of imprinting.
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| Temple IK, Shield JP.
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| J Med Genet 39(12):872-5. Review. 2002
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| 6 | HYMAI, PLAGL1, TNDM, UPD6P
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| A conserved imprinting control region at the HYMAI/ZAC domain is implicated in transient neonatal diabetes mellitus.
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| Arima T, Drewell RA, Arney KL, Inoue J, Makita Y, Hata A, Oshimura M, Wake N, Surani MA.
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| Hum Mol Genet 10(14):1475-83. 2001
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| 7 | TNDM, UPD6P
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| An imprinted locus associated with transient neonatal diabetes mellitus.
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| Gardner RJ, Mackay DJ, Mungall AJ, Polychronakos C, Siebert R, Shield JP, Temple IK, Robinson DO.
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| Hum Mol Genet 9(4):589-596. 2000
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| 8 | TNDM, UPD6P
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| Variable features of transient neonatal diabetes mellitus with paternal isodisomy of chromosome 6.
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| Marquis E, Robert JJ, Benezech C, Junien C, Diatloff-Zito C.
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| Eur J Hum Genet 8(2):137-40. 2000
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| 9 | TNDM, UPD6P
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| Refinement of the 6q chromosomal region implicated in transient neonatal diabetes.
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| Cave H, Polak M, Drunat S, Denamur E, Czernichow P.
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| Diabetes 49(1):108-13. 2000
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| 10 | UPD6P
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| Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities.
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| Das S, Lese CM, Song M, Jensen JL, Wells LA, Barnoski BL, Roseberry JA, Camacho JM, Ledbetter DH, Schnur RE.
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| Am J Hum Genet 67(6):1586-91. 2000
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| 11 | CYP21A2, UPD6P
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| Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency : evidence of different genetic mechanisms involved in the production of the disease.
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| Lopez-Gutierrez AU, Riba L, Ordonez-Sanchez ML, Ramirez-Jimenez S, Cerrillo-Hinojosa M, Tusie-Luna MT.
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| J Med Genet 35 : 1014-1019. 1998
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| 12 | UPD6P
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| Fortuitous detection of uniparental isodisomy of chromosome 6.
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| Bittencourt MC, et al.
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| J Med Genet 34 : 77-78. 1997
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| 13 | UPD6P
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| Paternal uniparental disomy for chromosome 6 causes transient neonatal diabetes.
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| Whiteford ML, et al.
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| J Med Genet 34 : 167-168. 1997
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| 14 | UPD6P
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| Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus.
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| Abramowicz MJ, et al.
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| J Clin Invest 94 : 418-421. 1994
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