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Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General Population
Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General Population
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Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General Population

Nakka, 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. Fah

American journal of human genetics, 2019-11, Vol.105 (5), p.921-932 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Pseudohypoparathyroidism Type 1b due to Paternal Uniparental Disomy of Chromosome 20q
Pseudohypoparathyroidism Type 1b due to Paternal Uniparental Disomy of Chromosome 20q
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Pseudohypoparathyroidism Type 1b due to Paternal Uniparental Disomy of Chromosome 20q

Dixit, A ; Chandler, K. E ; Lever, M ; Poole, R. L ; Bullman, H ; Mughal, M. Z ; Steggall, M ; Suri, M

The journal of clinical endocrinology and metabolism, 2013-01, Vol.98 (1), p.E103-E108 [Periódico revisado por pares]

United States: Endocrine Society

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3
Mosaicism and uniparental disomy in prenatal diagnosis
Mosaicism and uniparental disomy in prenatal diagnosis
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Mosaicism and uniparental disomy in prenatal diagnosis

Eggermann, Thomas ; Soellner, Lukas ; Buiting, Karin ; Kotzot, Dieter

Trends in molecular medicine, 2015-02, Vol.21 (2), p.77-87 [Periódico revisado por pares]

England: Elsevier Ltd

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4
Uniparental disomy (UPD) of a novel bisphosphoglycerate mutase (BPGM) mutation leading to erythrocytosis
Uniparental disomy (UPD) of a novel bisphosphoglycerate mutase (BPGM) mutation leading to erythrocytosis
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Uniparental disomy (UPD) of a novel bisphosphoglycerate mutase (BPGM) mutation leading to erythrocytosis

Lazana, Ioanna ; Mohamedali, Azim ; Smith, Frances ; Lavallade, Hugues ; McLornan, Donal ; Raj, Kavita

British journal of haematology, 2021-01, Vol.192 (1), p.220-223 [Periódico revisado por pares]

England: Blackwell Publishing Ltd

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5
Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients
Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients
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Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients

Wen, 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, Hui

American journal of medical genetics. Part A, 2022-06, Vol.188 (6), p.1728-1738 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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6
Prenatal detection of mosaicism for a genome wide uniparental disomy cell line in a cohort of patients: Implications and outcomes
Prenatal detection of mosaicism for a genome wide uniparental disomy cell line in a cohort of patients: Implications and outcomes
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Prenatal detection of mosaicism for a genome wide uniparental disomy cell line in a cohort of patients: Implications and outcomes

Johansen, Margriet ; Haskell, Gloria T. ; Arreola, Alexandra ; Riordan, Christine ; Gadi, Inder K. ; Penton, Andrea ; Papenhausen, Peter R. ; Schwartz, Stuart

Prenatal diagnosis, 2024-05, Vol.44 (5), p.586-594 [Periódico revisado por pares]

England: Wiley Subscription Services, Inc

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7
The genetic basis of phenotypic heterogeneity in myelodysplastic syndromes
The genetic basis of phenotypic heterogeneity in myelodysplastic syndromes
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The genetic basis of phenotypic heterogeneity in myelodysplastic syndromes

Raza, Azra ; Galili, Naomi

Nature reviews. Cancer, 2012-12, Vol.12 (12), p.849-859 [Periódico revisado por pares]

England: Nature Publishing Group

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8
Should testing for mosaic genome-wide paternal uniparental disomy in Beckwith-Wiedemann spectrum (BWSp) be implemented in diagnostic testing?
Should testing for mosaic genome-wide paternal uniparental disomy in Beckwith-Wiedemann spectrum (BWSp) be implemented in diagnostic testing?
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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, Jet

European journal of human genetics : EJHG, 2023-06, Vol.31 (6), p.615-616 [Periódico revisado por pares]

England: Nature Publishing Group

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9
Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome)
Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome)
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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, Tsutomu

European journal of human genetics : EJHG, 2015-11, Vol.23 (11), p.1488-1498 [Periódico revisado por pares]

England: Nature Publishing Group

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10
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
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Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

Stranneheim, 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, Anna

Genome medicine, 2021-03, Vol.13 (1), p.40-40, Article 40 [Periódico revisado por pares]

England: BioMed Central Ltd

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