Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Artigo
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Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General PopulationNakka, Priyanka ; Pattillo Smith, Samuel ; O’Donnell-Luria, Anne H. ; McManus, Kimberly F. ; Agee, Michelle ; Auton, Adam ; Bell, Robert K. ; Bryc, Katarzyna ; Elson, Sarah L. ; Fontanillas, Pierre ; Furlotte, Nicholas A. ; Hicks, Barry ; Hinds, David A. ; Jewett, Ethan M. ; Jiang, Yunxuan ; Lin, Keng-Han ; McCreight, Jennifer C. ; Huber, Karen E. ; Kleinman, Aaron ; Litterman, Nadia K. ; McIntyre, Matthew H. ; Noblin, Elizabeth S. ; Northover, Carrie A.M. ; Pitts, Steven J. ; Poznik, G. David ; Shelton, Janie F. ; Shringarpure, Suyash ; Tian, Chao ; Tung, Joyce Y. ; Vacic, Vladimir ; Wang, Xin ; Mountain, Joanna L. ; Ramachandran, Sohini ; Sathirapongsasuti, J. FahAmerican journal of human genetics, 2019-11, Vol.105 (5), p.921-932 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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2 |
Material Type: Artigo
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Pseudohypoparathyroidism Type 1b due to Paternal Uniparental Disomy of Chromosome 20qDixit, A ; Chandler, K. E ; Lever, M ; Poole, R. L ; Bullman, H ; Mughal, M. Z ; Steggall, M ; Suri, MThe journal of clinical endocrinology and metabolism, 2013-01, Vol.98 (1), p.E103-E108 [Periódico revisado por pares]United States: Endocrine SocietyTexto completo disponível |
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3 |
Material Type: Artigo
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Mosaicism and uniparental disomy in prenatal diagnosisEggermann, Thomas ; Soellner, Lukas ; Buiting, Karin ; Kotzot, DieterTrends in molecular medicine, 2015-02, Vol.21 (2), p.77-87 [Periódico revisado por pares]England: Elsevier LtdTexto completo disponível |
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4 |
Material Type: Artigo
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Uniparental disomy (UPD) of a novel bisphosphoglycerate mutase (BPGM) mutation leading to erythrocytosisLazana, Ioanna ; Mohamedali, Azim ; Smith, Frances ; Lavallade, Hugues ; McLornan, Donal ; Raj, KavitaBritish journal of haematology, 2021-01, Vol.192 (1), p.220-223 [Periódico revisado por pares]England: Blackwell Publishing LtdTexto completo disponível |
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5 |
Material Type: Artigo
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Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patientsWen, Jiadi ; Chai, Hongyan ; Grommisch, Brittany ; DiAdamo, Autumn ; Dykas, Daniel ; Ma, Deqiong ; Popa, Andreea ; Zhao, Chen ; Spencer‐Manzon, Michele ; Jiang, Yong‐Hui ; McGrath, James ; Li, Peining ; Bale, Allen ; Zhang, HuiAmerican journal of medical genetics. Part A, 2022-06, Vol.188 (6), p.1728-1738 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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The genetic basis of phenotypic heterogeneity in myelodysplastic syndromesRaza, Azra ; Galili, NaomiNature reviews. Cancer, 2012-12, Vol.12 (12), p.849-859 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Should testing for mosaic genome-wide paternal uniparental disomy in Beckwith-Wiedemann spectrum (BWSp) be implemented in diagnostic testing?Maas, Saskia M ; Krzyzewska, Izabela M ; Lombardi, Maria P R ; Mannens, Marcel M A ; Vos, Niels ; Bliek, JetEuropean journal of human genetics : EJHG, 2023-06, Vol.31 (6), p.615-616 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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8 |
Material Type: Artigo
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Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patientsStranneheim, Henrik ; Lagerstedt-Robinson, Kristina ; Magnusson, Måns ; Kvarnung, Malin ; Nilsson, Daniel ; Lesko, Nicole ; Engvall, Martin ; Anderlid, Britt-Marie ; Arnell, Henrik ; Johansson, Carolina Backman ; Barbaro, Michela ; Björck, Erik ; Bruhn, Helene ; Eisfeldt, Jesper ; Freyer, Christoph ; Grigelioniene, Giedre ; Gustavsson, Peter ; Hammarsjö, Anna ; Hellström-Pigg, Maritta ; Iwarsson, Erik ; Jemt, Anders ; Laaksonen, Mikael ; Enoksson, Sara Lind ; Malmgren, Helena ; Naess, Karin ; Nordenskjöld, Magnus ; Oscarson, Mikael ; Pettersson, Maria ; Rasi, Chiara ; Rosenbaum, Adam ; Sahlin, Ellika ; Sardh, Eliane ; Stödberg, Tommy ; Tesi, Bianca ; Tham, Emma ; Thonberg, Håkan ; Töhönen, Virpi ; von Döbeln, Ulrika ; Vassiliou, Daphne ; Vonlanthen, Sofie ; Wikström, Ann-Charlotte ; Wincent, Josephine ; Winqvist, Ola ; Wredenberg, Anna ; Ygberg, Sofia ; Zetterström, Rolf H ; Marits, Per ; Soller, Maria Johansson ; Nordgren, Ann ; Wirta, Valtteri ; Lindstrand, Anna ; Wedell, AnnaGenome medicine, 2021-03, Vol.13 (1), p.40-40, Article 40 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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9 |
Material Type: Artigo
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Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome)Kagami, Masayo ; Kurosawa, Kenji ; Miyazaki, Osamu ; Ishino, Fumitoshi ; Matsuoka, Kentaro ; Ogata, TsutomuEuropean journal of human genetics : EJHG, 2015-11, Vol.23 (11), p.1488-1498 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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10 |
Material Type: Artigo
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Uniparental disomy in the human blastocyst is exceedingly rareGueye, Ndeye-Aicha, M.D ; Devkota, Batsal, Ph.D ; Taylor, Deanne, Ph.D ; Pfundt, Rolph, Ph.D ; Scott, Richard T., M.D ; Treff, Nathan R., Ph.DFertility and sterility, 2014, Vol.101 (1), p.232-236 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |