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Reference EntriesFull Text
hemizygote
Publisher:Oxford University Press
Journal title:A Dictionary of Biomedicine, 2019
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Molecular dissection of hemizygote-dependent dominance of super-early flowering in soybean
Author / Creator:Xu, Xin ; Yu, Yang ; Jiang, Bingjun ; Cao, Dong ; Zhang, Lixin ; Jia, Hongchang ; Sun, Xuegang ; Chen, Li ; Yuan, Shan ; Chen, Fulu ; Lu, Zefu ; Liu, Yanhong ; Naser, Mahmoud ; Wu, Tingting ; Wu, Cunxiang ; Zhang, Qingzhu ; Sun, Shi ; Han, Tianfu
Publisher:Elsevier B.V
Journal title:The Crop journal, 2025-03
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X-Linked Autism Type 9 Caused by a Hemizygote Pathogenic Variant in the TMLHE Gene: Etiological Diagnosis in an Adult Male with Moderate Intellectual Disability X-Linked Autism Type 9 Caused by a Hemi...
Author / Creator:Verhoeven WM ; Pfundt R ; Engelke UF ; Kluijtmans LA ; Egger JI
Publisher:Dove Medical Press
Journal title:International medical case reports journal, 2025-01, Vol.18, p.111-116
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hemizygote
Publisher:Oxford University Press
Journal title:A Dictionary of Biomedicine, 2010
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X-Linked Autism Type 9 Caused by a Hemizygote Pathogenic Variant in the TMLHE Gene: Etiological Diagnosis in an Adult Male with Moderate Intellectual Disability
Author / Creator:Verhoeven, Willem ; Pfundt, Rolph ; Engelke, Udo ; Kluijtmans, Leo ; Egger, Jos
Publisher:New Zealand: Taylor & Francis Ltd
Journal title:International medical case reports journal, 2025-01, Vol.18, p.111-116
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A Splicing Switch and Gain-of-Function Mutation in FgfR2-IIIc Hemizygotes Causes Apert/Pfeiffer-Syndrome-like Phenotypes
Author / Creator:Hajihosseini, Mohammad K. ; Wilson, Stephen ; De Moerlooze, Laurence ; Dickson, Clive
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2001-03, Vol.98 (7), p.3855-3860
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Urinary Lipid Profiling for the Identification of Fabry Hemizygotes and Heterozygotes
Author / Creator:Fuller, Maria ; Sharp, Peter C ; Rozaklis, Tina ; Whitfield, Phillip D ; Blacklock, David ; Hopwood, John J ; Meikle, Peter J
Publisher:Washington, DC: Am Assoc Clin Chem
Journal title:Clinical chemistry (Baltimore, Md.), 2005-04, Vol.51 (4), p.688-694
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Generation of Novel Chimeric Mice with Humanized Livers by Using Hemizygous cDNA-uPA/SCID Mice
Author / Creator:Tateno, Chise ; Kawase, Yosuke ; Tobita, Yoshimi ; Hamamura, Satoko ; Ohshita, Hiroki ; Yokomichi, Hiroshi ; Sanada, Harumi ; Kakuni, Masakazu ; Shiota, Akira ; Kojima, Yuha ; Ishida, Yuji ; Shitara, Hiroshi ; Wada, Naoko A. ; Tateishi, Hiromi ; Sudoh, Masayuki ; Nagatsuka, Shin-ichiro ; Jishage, Kou-ichi ; Kohara, Michinori
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-11, Vol.10 (11), p.e0142145
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Non-invasive high-risk screening for Fabry disease hemizygotes and heterozygotes
Author / Creator:Kitagawa, Teruo ; Suzuki, Ken ; Ishige, Nobuyuki ; Ohashi, Toya ; Kobayashi, Masahisa ; Eto, Yoshikatsu ; Tanaka, Akemi ; Odaka, Hideo ; Owada, Misao
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Pediatric nephrology (Berlin, West), 2008-09, Vol.23 (9), p.1461-1471
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Epigenetic "switch" underlying hemizygote-dependent super-early flowering in soybean transformants
Publisher:NewsRX LLC
Journal title:NewsRx Health & Science, 2025-05, p.135
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Differential effects of partial and complete loss of TREM2 on microglial injury response and tauopathy
Author / Creator:Sayed, Faten A. ; Telpoukhovskaia, Maria ; Kodama, Lay ; Li, Yaqiao ; Zhou, Yungui ; Le, David ; Hauduc, Axel ; Ludwig, Connor ; Gao, Fuying ; Clelland, Claire ; Zhan, Lihong ; Cooper, Yonatan A. ; Davalos, Dimitrios ; Akassoglou, Katerina ; Coppola, Giovanni ; Gan, Li
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2018-10, Vol.115 (40), p.10172-10177
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ArticlesPeer ReviewedFull Text
Modulation of splicing catalysis for therapeutic targeting of leukemia with mutations in genes encoding spliceosomal proteins
Author / Creator:Lee, Stanley Chun-Wei ; Dvinge, Heidi ; Kim, Eunhee ; Cho, Hana ; Micol, Jean-Baptiste ; Chung, Young Rock ; Durham, Benjamin H ; Yoshimi, Akihide ; Kim, Young Joon ; Thomas, Michael ; Lobry, Camille ; Chen, Chun-Wei ; Pastore, Alessandro ; Taylor, Justin ; Wang, Xujun ; Krivtsov, Andrei ; Armstrong, Scott A ; Palacino, James ; Buonamici, Silvia ; Smith, Peter G ; Bradley, Robert K ; Abdel-Wahab, Omar
Publisher:London: Nature Publishing Group UK
Journal title:Nature medicine, 2016-06, Vol.22 (6), p.672-678
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ArticlesPeer ReviewedFull Text
X-Linked TEX11 Mutations, Meiotic Arrest, and Azoospermia in Infertile Men
Author / Creator:Yatsenko, Alexander N ; Georgiadis, Andrew P ; Röpke, Albrecht ; Berman, Andrea J ; Jaffe, Thomas ; Olszewska, Marta ; Westernströer, Birgit ; Sanfilippo, Joseph ; Kurpisz, Maciej ; Rajkovic, Aleksandar ; Yatsenko, Svetlana A ; Kliesch, Sabine ; Schlatt, Stefan ; Tüttelmann, Frank
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2015-05, Vol.372 (22), p.2097-2107
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ArticlesPeer ReviewedFull Text
UTX and UTY Demonstrate Histone Demethylase-Independent Function in Mouse Embryonic Development
Author / Creator:Shpargel, Karl B. ; Sengoku, Toru ; Yokoyama, Shigeyuki ; Magnuson, Terry
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2012-09, Vol.8 (9), p.e1002964-e1002964
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The long and short of the S-locus in Turnera (Passifloraceae)
Author / Creator:Shore, Joel S. ; Hamam, Hasan J. ; Chafe, Paul D. J. ; Labonne, Jonathan D. J. ; Henning, Paige M. ; McCubbin, Andrew G.
Publisher:England: Wiley
Journal title:The New phytologist, 2019-11, Vol.224 (3), p.1316-1329
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Elevated globotriaosylsphingosine is a hallmark of Fabry disease
Author / Creator:Aerts, Johannes M ; Groener, Johanna E ; Kuiper, Sijmen ; Donker-Koopman, Wilma E ; Strijland, Anneke ; Ottenhoff, Roelof ; van Roomen, Cindy ; Mirzaian, Mina ; Wijburg, Frits A ; Linthorst, Gabor E ; Vedder, Anouk C ; Rombach, Saskia M ; Cox-Brinkman, Josanne ; Somerharju, Pentti ; Boot, Rolf G ; Hollak, Carla E ; Brady, Roscoe O ; Poorthuis, Ben J
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2008-02, Vol.105 (8), p.2812-2817
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Recurrent Hemizygous Deletions in Cancers May Optimize Proliferative Potential
Author / Creator:Solimini, Nicole L. ; Xu, Qikai ; Mermel, Craig H. ; Liang, Anthony C. ; Schlabach, Michael R. ; Luo, Ji ; Burrows, Anna E. ; Anselmo, Anthony N. ; Bredemeyer, Andrea L. ; Li, Mamie Z. ; Beroukhim, Rameen ; Meyerson, Matthew ; Elledge, Stephen J.
Publisher:Washington, DC: American Association for the Advancement of Science
Journal title:Science (American Association for the Advancement of Science), 2012-07, Vol.337 (6090), p.104-109
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Deletion of ribosomal protein genes is a common vulnerability in human cancer, especially in concert with TP53 mutations
Author / Creator:Ajore, Ram ; Raiser, David ; McConkey, Marie ; Jöud, Magnus ; Boidol, Bernd ; Mar, Brenton ; Saksena, Gordon ; Weinstock, David M ; Armstrong, Scott ; Ellis, Steven R ; Ebert, Benjamin L ; Nilsson, Björn
Publisher:London: Nature Publishing Group UK
Journal title:EMBO molecular medicine, 2017-04, Vol.9 (4), p.498-507
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Confirmation of COL4A6 variants in X-linked nonsyndromic hearing loss and its clinical implications
Author / Creator:O’Brien, Alexander ; Aw, Wen Yih ; Tee, Hui Yi ; Naegeli, Kaleb M. ; Bademci, Guney ; Tekin, Mustafa ; Arnos, Kathleen ; Pandya, Arti
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2022-01, Vol.30 (1), p.7-12
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Loss of X-linked Protocadherin-19 differentially affects the behavior of heterozygous female and hemizygous male mice
Author / Creator:Hayashi, Shuichi ; Inoue, Yoko ; Hattori, Satoko ; Kaneko, Mari ; Shioi, Go ; Miyakawa, Tsuyoshi ; Takeichi, Masatoshi
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2017-07, Vol.7 (1), p.5801-15, Article 5801
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hemizygote

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Molecular dissection of hemizygote-dependent dominance of super-early flowering in soybean

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X-Linked Autism Type 9 Caused by a Hemizygote Pathogenic Variant in the TMLHE Gene: Etiological Diagnosis in an Adult Male with Moderate Intellectual Disability X-Linked Autism Type 9 Caused by a Hemi...

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hemizygote

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X-Linked Autism Type 9 Caused by a Hemizygote Pathogenic Variant in the TMLHE Gene: Etiological Diagnosis in an Adult Male with Moderate Intellectual Disability

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A Splicing Switch and Gain-of-Function Mutation in FgfR2-IIIc Hemizygotes Causes Apert/Pfeiffer-Syndrome-like Phenotypes

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Urinary Lipid Profiling for the Identification of Fabry Hemizygotes and Heterozygotes

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Generation of Novel Chimeric Mice with Humanized Livers by Using Hemizygous cDNA-uPA/SCID Mice

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Non-invasive high-risk screening for Fabry disease hemizygotes and heterozygotes

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Epigenetic "switch" underlying hemizygote-dependent super-early flowering in soybean transformants

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Differential effects of partial and complete loss of TREM2 on microglial injury response and tauopathy

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Modulation of splicing catalysis for therapeutic targeting of leukemia with mutations in genes encoding spliceosomal proteins

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X-Linked TEX11 Mutations, Meiotic Arrest, and Azoospermia in Infertile Men

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UTX and UTY Demonstrate Histone Demethylase-Independent Function in Mouse Embryonic Development

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The long and short of the S-locus in Turnera (Passifloraceae)

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Elevated globotriaosylsphingosine is a hallmark of Fabry disease

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Recurrent Hemizygous Deletions in Cancers May Optimize Proliferative Potential

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Deletion of ribosomal protein genes is a common vulnerability in human cancer, especially in concert with TP53 mutations

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Confirmation of COL4A6 variants in X-linked nonsyndromic hearing loss and its clinical implications

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Loss of X-linked Protocadherin-19 differentially affects the behavior of heterozygous female and hemizygous male mice

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