Below are the most recent publications written about "Uniparental Disomy" by people in Profiles.
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Prasasya R, Grotheer KV, Siracusa LD, Bartolomei MS. Temple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms. Hum Mol Genet. 2020 09 30; 29(R1):R107-R116.
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Robbins KM, Stabley DL, Holbrook J, Sahraoui R, Sadreameli A, Conard K, Baker L, Gripp KW, Sol-Church K. Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma. Am J Med Genet A. 2016 12; 170(12):3197-3206.
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Gripp KW, Robbins KM, Sheffield BS, Lee AF, Patel MS, Yip S, Doyle D, Stabley D, Sol-Church K. Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion. Am J Med Genet A. 2016 Mar; 170(3):559-64.
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Gueye NA, Devkota B, Taylor D, Pfundt R, Scott RT, Treff NR. Uniparental disomy in the human blastocyst is exceedingly rare. Fertil Steril. 2014 Jan; 101(1):232-6.
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Kalish JM, Conlin LK, Mostoufi-Moab S, Wilkens AB, Mulchandani S, Zelley K, Kowalski M, Bhatti TR, Russo P, Mattei P, Mackenzie WG, LiVolsi V, Nichols KE, Biegel JA, Spinner NB, Deardorff MA. Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomy. Am J Med Genet A. 2013 May; 161A(5):993-1001.
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Kantarci S, Ragge NK, Thomas NS, Robinson DO, Noonan KM, Russell MK, Donnai D, Raymond FL, Walsh CA, Donahoe PK, Pober BR. Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy. Am J Med Genet A. 2008 Jul 15; 146A(14):1842-7.
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Feuk L, Kalervo A, Lipsanen-Nyman M, Skaug J, Nakabayashi K, Finucane B, Hartung D, Innes M, Kerem B, Nowaczyk MJ, Rivlin J, Roberts W, Senman L, Summers A, Szatmari P, Wong V, Vincent JB, Zeesman S, Osborne LR, Cardy JO, Kere J, Scherer SW, Hannula-Jouppi K. Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. Am J Hum Genet. 2006 Nov; 79(5):965-72.
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Fares F, David M, Lerner A, Diukman R, Lerer I, Abeliovich D, Rivlin J. Paternal isodisomy of chromosome 7 with cystic fibrosis and overgrowth. Am J Med Genet A. 2006 Aug 15; 140(16):1785-8.
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Fassihi H, Lu L, Wessagowit V, Ozoemena LC, Jones CA, Dopping-Hepenstal PJ, Foster L, Atherton DJ, Mellerio JE, McGrath JA. Complete maternal isodisomy of chromosome 3 in a child with recessive dystrophic epidermolysis bullosa but no other phenotypic abnormalities. J Invest Dermatol. 2006 Sep; 126(9):2039-43.
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Fassihi H, Wessagowit V, Ashton GH, Moss C, Ward R, Denyer J, Mellerio JE, McGrath JA. Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa. Clin Exp Dermatol. 2005 Jan; 30(1):71-4.