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Whole-genome sequencing analysis of phenotypic heterogeneity and anticipation in Li–Fraumeni cancer predisposition syndrome
Whole-genome sequencing analysis of phenotypic heterogeneity and anticipation in Li–Fraumeni cancer predisposition syndrome
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Whole-genome sequencing analysis of phenotypic heterogeneity and anticipation in Li–Fraumeni cancer predisposition syndrome

Ariffin, Hany ; Hainaut, Pierre ; Puzio-Kuter, Anna ; Choong, Soo Sin ; Chan, Adelyne Sue Li ; Tolkunov, Denis ; Rajagopal, Gunaretnam ; Kang, Wenfeng ; Lim, Leon Li Wen ; Krishnan, Shekhar ; Chen, Kok-Siong ; Achatz, Maria Isabel ; Karsa, Mawar ; Shamsani, Jannah ; Levine, Arnold J. ; Chan, Chang S.

Proceedings of the National Academy of Sciences - PNAS, 2014-10, Vol.111 (43), p.15497-15501 [Periódico revisado por pares]

United States: National Academy of Sciences

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2
Clues For Genetic Anticipation In Multiple Endocrine Neoplasia Type 1
Clues For Genetic Anticipation In Multiple Endocrine Neoplasia Type 1
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Clues For Genetic Anticipation In Multiple Endocrine Neoplasia Type 1

van den Broek, Medard F M ; van Nesselrooij, Bernadette P M ; Pieterman, Carolina R C ; Verrijn Stuart, Annemarie A ; van de Ven, Annenienke C ; de Herder, Wouter W ; Dekkers, Olaf M ; Drent, Madeleine L ; Havekes, Bas ; Kerstens, Michiel N ; Bisschop, Peter H ; Valk, Gerlof D

The journal of clinical endocrinology and metabolism, 2020-07, Vol.105 (7), p.e2491-e2500 [Periódico revisado por pares]

United States

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3
Genetic anticipation in a special form of hypertrophic cardiomyopathy with sudden cardiac death in a family with 74 members across 5 generations
Genetic anticipation in a special form of hypertrophic cardiomyopathy with sudden cardiac death in a family with 74 members across 5 generations
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Genetic anticipation in a special form of hypertrophic cardiomyopathy with sudden cardiac death in a family with 74 members across 5 generations

Guo, Xiying ; Fan, Chaomei ; Wang, Yanping ; Wang, Miao ; Cai, Chi ; Yang, Yinjian ; Zhao, Shihua ; Duan, Fujian ; Li, Yishi

Medicine (Baltimore), 2017-03, Vol.96 (11), p.e6249-e6249 [Periódico revisado por pares]

United States: Wolters Kluwer Health

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4
Is there a genetic anticipation in breast and/or ovarian cancer families with the germline c.3481_3491del11 mutation?
Is there a genetic anticipation in breast and/or ovarian cancer families with the germline c.3481_3491del11 mutation?
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Is there a genetic anticipation in breast and/or ovarian cancer families with the germline c.3481_3491del11 mutation?

El Tannouri, R. ; Albuisson, E. ; Jonveaux, P. ; Luporsi, E.

Familial cancer, 2018, Vol.17 (1), p.5-14 [Periódico revisado por pares]

Dordrecht: Springer Netherlands

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5
Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome
Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome
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Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome

Wang, Li ; Lin, Qiong-Fen ; Wang, Hong-Yang ; Guan, Jing ; Lan, Lan ; Xie, Lin-Yi ; Yu, Lan ; Yang, Ju ; Zhao, Cui ; Liang, Jin-Long ; Zhou, Han-Lin ; Yang, Huan-Ming ; Xiong, Wen-Ping ; Zhang, Qiu-Jing ; Wang, Da-Yong ; Wang, Qiu-Ju

Chinese medical journal, 2017-03, Vol.130 (6), p.703-709 [Periódico revisado por pares]

China: Medknow Publications and Media Pvt. Ltd

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6
Molecular epidemiology of spinocerebellar ataxias in Cuba: Insights into SCA2 founder effect in Holguin
Molecular epidemiology of spinocerebellar ataxias in Cuba: Insights into SCA2 founder effect in Holguin
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Molecular epidemiology of spinocerebellar ataxias in Cuba: Insights into SCA2 founder effect in Holguin

Velázquez Pérez, Luis ; Cruz, Gilberto Sánchez ; Santos Falcón, Nieves ; Enrique Almaguer Mederos, Luis ; Escalona Batallan, Karel ; Rodríguez Labrada, Roberto ; Paneque Herrera, Milena ; Laffita Mesa, José Miguel ; Rodríguez Díaz, Julio C. ; Rodríguez, Raúl Aguilera ; González Zaldivar, Yanetza ; Coello Almarales, Dany ; Almaguer Gotay, Dennis ; Jorge Cedeño, Humberto

Neuroscience letters, 2009-04, Vol.454 (2), p.157-160 [Periódico revisado por pares]

Shannon: Elsevier Ireland Ltd

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7
Potential genetic anticipation in hereditary leiomyomatosis-renal cell cancer (HLRCC)
Potential genetic anticipation in hereditary leiomyomatosis-renal cell cancer (HLRCC)
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Potential genetic anticipation in hereditary leiomyomatosis-renal cell cancer (HLRCC)

Wong, Mei Hua ; Tan, Chuen Seng ; Lee, Soo Chin ; Yong, Yvonne ; Ooi, Aik Seng ; Ngeow, Joanne ; Tan, Min Han

Familial cancer, 2014-06, Vol.13 (2), p.281-289 [Periódico revisado por pares]

Dordrecht: Springer Netherlands

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8
Intrafamilial heterogeneity of congenital optic disc pit maculopathy
Intrafamilial heterogeneity of congenital optic disc pit maculopathy
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Intrafamilial heterogeneity of congenital optic disc pit maculopathy

Rossi, Settimio ; De Rosa, Giuseppe ; D'Alterio, Francesco Maria ; Orrico, Ada ; Banfi, Sandro ; Testa, Francesco ; Simonelli, Francesca

Ophthalmic genetics, 2017-05, Vol.38 (3), p.267-272 [Periódico revisado por pares]

England

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9
Non-random gene flow: an underappreciated force in evolution and ecology
Non-random gene flow: an underappreciated force in evolution and ecology
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Non-random gene flow: an underappreciated force in evolution and ecology

Edelaar, Pim ; Bolnick, Daniel I.

Trends in ecology & evolution (Amsterdam), 2012-12, Vol.27 (12), p.659-665 [Periódico revisado por pares]

Kidlington: Elsevier Ltd

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10
An epigenetic basis for genetic anticipation in facioscapulohumeral muscular dystrophy type 1
An epigenetic basis for genetic anticipation in facioscapulohumeral muscular dystrophy type 1
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An epigenetic basis for genetic anticipation in facioscapulohumeral muscular dystrophy type 1

Zheng, Fuze ; Qiu, Liangliang ; Chen, Long ; Zheng, Ying ; He, Qifang ; Lin, Xiaodan ; Lin, Minting ; Lin, Yi ; Fu, Ying ; Wang, Ning ; Wang, Zhiqiang

Brain (London, England : 1878), 2023-12, Vol.146 (12), p.e107-e110 [Periódico revisado por pares]

England

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