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Psychotic illness in people with Prader Willi syndrome due to chromosome 15 maternal uniparental disomy
Psychotic illness in people with Prader Willi syndrome due to chromosome 15 maternal uniparental disomy
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Psychotic illness in people with Prader Willi syndrome due to chromosome 15 maternal uniparental disomy

Boer, Harm ; Holland, Anthony ; Whittington, Joyce ; Butler, Jill ; Webb, Tessa ; Clarke, David

The Lancet (British edition), 2002-01, Vol.359 (9301), p.135-136 [Peer Reviewed Journal]

London: Elsevier Ltd

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2
Mice Lacking Paternally Expressed Pref-1/Dlk1 Display Growth Retardation and Accelerated Adiposity
Mice Lacking Paternally Expressed Pref-1/Dlk1 Display Growth Retardation and Accelerated Adiposity
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Mice Lacking Paternally Expressed Pref-1/Dlk1 Display Growth Retardation and Accelerated Adiposity

Moon, Yang Soo ; Smas, Cynthia M ; Lee, Kichoon ; Villena, Josep A ; Kim, Kee-Hong ; Yun, Eun Jun ; Sul, Hei Sook

Molecular and Cellular Biology, 2002-08, Vol.22 (15), p.5585-5592 [Peer Reviewed Journal]

United States: American Society for Microbiology

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3
The development of cytogenetically normal, abnormal and mosaic embryos: a theoretical model
The development of cytogenetically normal, abnormal and mosaic embryos: a theoretical model
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The development of cytogenetically normal, abnormal and mosaic embryos: a theoretical model

Los, Frans J. ; Van Opstal, Diane ; van den Berg, Cardi

Human reproduction update, 2004-01, Vol.10 (1), p.79-94 [Peer Reviewed Journal]

England: Oxford University Press

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4
Genome-wide single-nucleotide polymorphism analysis in juvenile myelomonocytic leukemia identifies uniparental disomy surrounding the NF1 locus in cases associated with neurofibromatosis but not in cases with mutant RAS or PTPN11
Genome-wide single-nucleotide polymorphism analysis in juvenile myelomonocytic leukemia identifies uniparental disomy surrounding the NF1 locus in cases associated with neurofibromatosis but not in cases with mutant RAS or PTPN11
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Genome-wide single-nucleotide polymorphism analysis in juvenile myelomonocytic leukemia identifies uniparental disomy surrounding the NF1 locus in cases associated with neurofibromatosis but not in cases with mutant RAS or PTPN11

FLOTHO, C ; STEINEMANN, D ; MULLIGHAN, C. G ; NEALE, G ; MAYER, K ; KRATZ, C. P ; SCHLEGELBERGER, B ; DOWNING, J. R ; NIEMEYER, C. M

Oncogene, 2007-08, Vol.26 (39), p.5816-5821 [Peer Reviewed Journal]

Basingstoke: Nature Publishing

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5
Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14
Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14
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Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14

Temple, I K ; Shrubb, V ; Lever, M ; Bullman, H ; Mackay, D J G

Journal of medical genetics, 2007-10, Vol.44 (10), p.637-640 [Peer Reviewed Journal]

London: BMJ Publishing Group Ltd

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6
Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio
Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio
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Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio

Ting, Jason C ; Roberson, Elisha D.O ; Miller, Nathaniel D ; Lysholm-Bernacchi, Alana ; Stephan, Dietrich A ; Capone, George T ; Ruczinski, Ingo ; Thomas, George H ; Pevsner, Jonathan

Human mutation, 2007-12, Vol.28 (12), p.1225-1235 [Peer Reviewed Journal]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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7
Global analysis of uniparental disomy using high density genotyping arrays
Global analysis of uniparental disomy using high density genotyping arrays
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Global analysis of uniparental disomy using high density genotyping arrays

Bruce, S ; Leinonen, R ; Lindgren, C M ; Kivinen, K ; Dahlman-Wright, K ; Lipsanen-Nyman, M ; Hannula-Jouppi, K ; Kere, J

Journal of medical genetics, 2005-11, Vol.42 (11), p.847-851 [Peer Reviewed Journal]

London: BMJ Publishing Group Ltd

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8
Epigenetic detection of human chromosome 14 uniparental disomy
Epigenetic detection of human chromosome 14 uniparental disomy
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Epigenetic detection of human chromosome 14 uniparental disomy

Murphy, S.K. ; Wylie, A.A. ; Coveler, K.J. ; Cotter, P.D. ; Papenhausen, P.R. ; Sutton, V.R. ; Shaffer, L.G. ; Jirtle, R.L.

Human mutation, 2003-07, Vol.22 (1), p.92-97 [Peer Reviewed Journal]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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9
Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: study of 75 patients
Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: study of 75 patients
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Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: study of 75 patients

Varela, MC ; Kok, F ; Setian, N ; Kim, CA ; Koiffmann, CP

Clinical genetics, 2005-01, Vol.67 (1), p.47-52 [Peer Reviewed Journal]

Oxford, UK; Malden, USA: Blackwell Publishing Ltd/Inc

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10
Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR
Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR
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Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR

Mitter, Diana ; Buiting, Karin ; von Eggeling, Ferdinand ; Kuechler, Alma ; Liehr, Thomas ; Mau-Holzmann, Ulrike Angelika ; Prott, Eva-Christina ; Wieczorek, Dagmar ; Gillessen-Kaesbach, Gabriele

American journal of medical genetics. Part A, 2006-10, Vol.140A (19), p.2039-2049 [Peer Reviewed Journal]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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