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Female predisposition to TLR7-driven autoimmunity: gene dosage and the escape from X chromosome inactivation
Female predisposition to TLR7-driven autoimmunity: gene dosage and the escape from X chromosome inactivation
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Female predisposition to TLR7-driven autoimmunity: gene dosage and the escape from X chromosome inactivation

Souyris, Mélanie ; Mejía, José E. ; Chaumeil, Julie ; Guéry, Jean-Charles

Seminars in immunopathology, 2019-03, Vol.41 (2), p.153-164 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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2
X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood
X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood
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X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood

Fiot, Elodie ; Zénaty, Delphine ; Boizeau, Priscilla ; Haignere, Jérémie ; Dos Santos, Sophie ; Léger, Juliane

European journal of endocrinology, 2019-06, Vol.180 (6), p.397-406 [Periódico revisado por pares]

England: Bioscientifica Ltd

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3
Identification of an HMGB3 Frameshift Mutation in a Family With an X-linked Colobomatous Microphthalmia Syndrome Using Whole-Genome and X-Exome Sequencing
Identification of an HMGB3 Frameshift Mutation in a Family With an X-linked Colobomatous Microphthalmia Syndrome Using Whole-Genome and X-Exome Sequencing
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Identification of an HMGB3 Frameshift Mutation in a Family With an X-linked Colobomatous Microphthalmia Syndrome Using Whole-Genome and X-Exome Sequencing

Scott, Alan F ; Mohr, David W ; Kasch, Laura M ; Barton, Jill A ; Pittiglio, Raquel ; Ingersoll, Roxann ; Craig, Brian ; Marosy, Beth A ; Doheny, Kimberly F ; Bromley, William C ; Roderick, Thomas H ; Chassaing, Nicolas ; Calvas, Patrick ; Prabhu, Shreya S ; Jabs, Ethylin Wang

JAMA ophthalmology, 2014-10, Vol.132 (10), p.1215-1220 [Periódico revisado por pares]

United States: American Medical Association

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4
Landscape of X chromosome inactivation across human tissues
Landscape of X chromosome inactivation across human tissues
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Landscape of X chromosome inactivation across human tissues

Tukiainen, Taru ; Villani, Alexandra-Chloé ; Yen, Angela ; Rivas, Manuel A ; Marshall, Jamie L ; Satija, Rahul ; Aguirre, Matt ; Gauthier, Laura ; Fleharty, Mark ; Kirby, Andrew ; Cummings, Beryl B ; Castel, Stephane E ; Karczewski, Konrad J ; Aguet, François ; Byrnes, Andrea ; Lappalainen, Tuuli ; Regev, Aviv ; Ardlie, Kristin G ; Hacohen, Nir ; MacArthur, Daniel G

Nature (London), 2017-10, Vol.550 (7675), p.244-248 [Periódico revisado por pares]

England: Nature Publishing Group

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5
Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants
Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants
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Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants

Pedersen, Oluf ; Nielsen, Rasmus ; Wang, Jun ; Li, Yingrui ; Vinckenbosch, Nicolas ; Tian, Geng ; Huerta-Sanchez, Emilia ; Jiang, Tao ; Jiang, Hui ; Albrechtsen, Anders ; Andersen, Gitte ; Cao, Hongzhi ; Korneliussen, Thorfinn ; Grarup, Niels ; Guo, Yiran ; Hellman, Ines ; Jin, Xin ; Li, Qibin ; Liu, Jiangtao ; Liu, Xiao ; Sparsø, Thomas ; Tang, Meifang ; Wu, Honglong ; Wu, Renhua ; Yu, Chang ; Zheng, Hancheng ; Astrup, Arne ; Bolund, Lars ; Holmkvist, Johan ; Jørgensen, Torben ; Kristiansen, Karsten ; Schmitz, Ole ; Schwartz, Thue W ; Zhang, Xiuqing ; Li, Ruiqiang ; Yang, Huanming ; Wang, Jian ; Hansen, Torben

Nature genetics, 2010-11, Vol.42 (11), p.969-972 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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6
Chromosome-wide regulation of euchromatin-specific 5mC to 5hmC conversion in mouse ES cells and female human somatic cells
Chromosome-wide regulation of euchromatin-specific 5mC to 5hmC conversion in mouse ES cells and female human somatic cells
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Chromosome-wide regulation of euchromatin-specific 5mC to 5hmC conversion in mouse ES cells and female human somatic cells

Kubiura, Musashi ; Okano, Masaki ; Kimura, Hiroshi ; Kawamura, Fumihiko ; Tada, Masako

Chromosome research, 2012-10, Vol.20 (7), p.837-848 [Periódico revisado por pares]

Dordrecht: Springer Netherlands

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7
Telomere-to-telomere assembly of a complete human X chromosome
Telomere-to-telomere assembly of a complete human X chromosome
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Telomere-to-telomere assembly of a complete human X chromosome

Miga, Karen H ; Koren, Sergey ; Rhie, Arang ; Vollger, Mitchell R ; Gershman, Ariel ; Bzikadze, Andrey ; Brooks, Shelise ; Howe, Edmund ; Porubsky, David ; Logsdon, Glennis A ; Schneider, Valerie A ; Potapova, Tamara ; Wood, Jonathan ; Chow, William ; Armstrong, Joel ; Fredrickson, Jeanne ; Pak, Evgenia ; Tigyi, Kristof ; Kremitzki, Milinn ; Markovic, Christopher ; Maduro, Valerie ; Dutra, Amalia ; Bouffard, Gerard G ; Chang, Alexander M ; Hansen, Nancy F ; Wilfert, Amy B ; Thibaud-Nissen, Françoise ; Schmitt, Anthony D ; Belton, Jon-Matthew ; Selvaraj, Siddarth ; Dennis, Megan Y ; Soto, Daniela C ; Sahasrabudhe, Ruta ; Kaya, Gulhan ; Quick, Josh ; Loman, Nicholas J ; Holmes, Nadine ; Loose, Matthew ; Surti, Urvashi ; Risques, Rosa Ana ; Graves Lindsay, Tina A ; Fulton, Robert ; Hall, Ira ; Paten, Benedict ; Howe, Kerstin ; Timp, Winston ; Young, Alice ; Mullikin, James C ; Pevzner, Pavel A ; Gerton, Jennifer L ; Sullivan, Beth A ; Eichler, Evan E ; Phillippy, Adam M

Nature (London), 2020-09, Vol.585 (7823), p.79-84 [Periódico revisado por pares]

England: Nature Publishing Group

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8
Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators
Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators
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Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators

Bellott, Daniel W ; Hughes, Jennifer F ; Skaletsky, Helen ; Brown, Laura G ; Pyntikova, Tatyana ; Cho, Ting-Jan ; Koutseva, Natalia ; Zaghlul, Sara ; Graves, Tina ; Rock, Susie ; Kremitzki, Colin ; Fulton, Robert S ; Dugan, Shannon ; Ding, Yan ; Morton, Donna ; Khan, Ziad ; Lewis, Lora ; Buhay, Christian ; Wang, Qiaoyan ; Watt, Jennifer ; Holder, Michael ; Lee, Sandy ; Nazareth, Lynne ; Alföldi, Jessica ; Rozen, Steve ; Muzny, Donna M ; Warren, Wesley C ; Gibbs, Richard A ; Wilson, Richard K ; Page, David C

Nature (London), 2014-04, Vol.508 (7497), p.494-499 [Periódico revisado por pares]

England: Nature Publishing Group

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9
Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders
Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders
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Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders

Oetjens, M T ; Kelly, M A ; Sturm, A C ; Martin, C L ; Ledbetter, D H

Nature communications, 2019-10, Vol.10 (1), p.4897-10, Article 4897 [Periódico revisado por pares]

England: Nature Publishing Group

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10
X chromosome regulation: diverse patterns in development, tissues and disease
X chromosome regulation: diverse patterns in development, tissues and disease
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X chromosome regulation: diverse patterns in development, tissues and disease

Deng, Xinxian ; Berletch, Joel B ; Nguyen, Di K ; Disteche, Christine M

Nature reviews. Genetics, 2014-06, Vol.15 (6), p.367-378 [Periódico revisado por pares]

England: Nature Publishing Group

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