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1
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach
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Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach

Thomassen, Mads ; Mesman, Romy L. S ; Hansen, Thomas V. O ; Menendez, Mireia ; Rossing, Maria ; Esteban Sánchez, Ada ; Tudini, Emma ; Törngren, Therese ; Parsons, Michael T ; Pedersen, Inge S ; Teo, Soo H ; Kruse, Torben A ; Møller, Pål ; Borg, Åke ; Jensen, Uffe B ; Christensen, Lise L ; Singer, Christian F ; Muhr, Daniela ; Santamarina, Marta ; Brandao, Rita ; Andresen, Brage S ; Feng, Bing Jian ; Canson, Daffodil ; Richardson, Marcy E ; Karam, Rachid ; Pesaran, Tina ; Laduca, Holly ; Conner, Blair R ; Abualkheir, Nelly ; Hoang, Lily ; Calléja, Fabienne M. G. R ; Andrews, Lesley ; James, Paul A ; Bunyan, Dave ; Hamblett, Amanda ; Radice, Paolo ; Goldgar, David E ; Walker, Logan C ; Engel, Christoph ; Claes, Kathleen B. M ; Macháčková, Eva ; Baralle, Diana ; Viel, Alessandra ; Wappenschmidt, Barbara ; Lazaro, Conxi ; Vega, Ana ; Vreeswijk, Maaike P. G ; Hoya, Miguel de la ; Spurdle, Amanda B ; Enigma Consortium

Hindawi Limited 2022-08

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2
The effects of drift and selection on latitudinal genetic variation in Scandinavian common toads (Bufo bufo) following postglacial recolonisation
The effects of drift and selection on latitudinal genetic variation in Scandinavian common toads (Bufo bufo) following postglacial recolonisation
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The effects of drift and selection on latitudinal genetic variation in Scandinavian common toads (Bufo bufo) following postglacial recolonisation

Thörn, Filip ; Rödin-Mörch, Patrik ; Cortázar-Chinarro, Maria ; Richter-Boix, Alex ; Laurila, Anssi ; Höglund, Jacob

Nature Research 2021

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3
The tomato genome sequence provides insights into fleshy fruit evolution
The tomato genome sequence provides insights into fleshy fruit evolution
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The tomato genome sequence provides insights into fleshy fruit evolution

Tomato Genome Consortium ; Sato, S ; Guigó Serra, Roderic ; Cámara, Francisco ; Gianese, S

Nature (London), 2012-05, Vol.485 (7400), p.635-641 [Periódico revisado por pares]

London: Nature Publishing Group

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4
Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes
Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes
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Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes

Nakagawa, Kenji ; Gonzalez-Roca, Eva ; Souto, Alejandro ; Kawai, Toshinao ; Umebayashi, Hiroaki ; Campistol, Josep María ; Cañellas, Jeronima ; Takei, Syuji ; Kobayashi, Norimoto ; Callejas-Rubio, Jose Luis ; Ortego-Centeno, Norberto ; Ruiz-Ortiz, Estíbaliz ; Rius, Fina ; Anton, Jordi ; Iglesias, Estibaliz ; Jimenez-Treviño, Santiago ; Vargas, Carmen ; Fernandez-Martin, Julian ; Calvo, Inmaculada ; Hernández-Rodríguez, José ; Mendez, María ; Dordal, María Teresa ; Basagaña, Maria ; Bujan, Segundo ; Yashiro, Masato ; Kubota, Tetsuo ; Koike, Ryuji ; Akuta, Naoko ; Shimoyama, Kumiko ; Iwata, Naomi ; Saito, Megumu K ; Ohara, Osamu ; Kambe, Naotomo ; Yasumi, Takahiro ; Izawa, Kazushi ; Kawai, Tomoki ; Heike, Toshio ; Yagüe, Jordi ; Nishikomori, Ryuta ; Aróstegui, Juan I

Annals of the rheumatic diseases, 2015-03, Vol.74 (3), p.603-610 [Periódico revisado por pares]

England: BMJ Publishing Group

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5
Identification of Lynch Syndrome Among Patients With Colorectal Cancer
Identification of Lynch Syndrome Among Patients With Colorectal Cancer
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Identification of Lynch Syndrome Among Patients With Colorectal Cancer

Moreira, Leticia ; Balaguer, Francesc ; Lindor, Noralane ; de la Chapelle, Albert ; Hampel, Heather ; Aaltonen, Lauri A ; Hopper, John L ; Le Marchand, Loic ; Gallinger, Steven ; Newcomb, Polly A ; Haile, Robert ; Thibodeau, Stephen N ; Gunawardena, Shanaka ; Jenkins, Mark A ; Buchanan, Daniel D ; Potter, John D ; Baron, John A ; Ahnen, Dennis J ; Moreno, Victor ; Andreu, Montserrat ; Ponz de Leon, Maurizio ; Rustgi, Anil K ; Castells, Antoni

JAMA : the journal of the American Medical Association, 2012-10, Vol.308 (15), p.1555-1565 [Periódico revisado por pares]

Chicago, IL: American Medical Association

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6
Mixed hepatocellular cholangiocarcinoma tumors: Cholangiolocellular carcinoma is a distinct molecular entity
Mixed hepatocellular cholangiocarcinoma tumors: Cholangiolocellular carcinoma is a distinct molecular entity
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Mixed hepatocellular cholangiocarcinoma tumors: Cholangiolocellular carcinoma is a distinct molecular entity

Moeini, Agrin ; Sia, Daniela ; Zhang, Zhongyang ; Camprecios, Genis ; Stueck, Ashley ; Dong, Hui ; Montal, Robert ; Torrens, Laura ; Martinez-Quetglas, Iris ; Fiel, M. Isabel ; Hao, Ke ; Villanueva, Augusto ; Thung, Swan N ; Schwartz, Myron E ; Llovet, Josep M

Journal of hepatology, 2017-05, Vol.66 (5), p.952-961 [Periódico revisado por pares]

Netherlands: Elsevier B.V

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7
IG/MYC Rearrangements are the Main Cytogenetic Alteration in Plasmablastic Lymphomas
IG/MYC Rearrangements are the Main Cytogenetic Alteration in Plasmablastic Lymphomas
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IG/MYC Rearrangements are the Main Cytogenetic Alteration in Plasmablastic Lymphomas

VALERA, Alexandra ; BALAGUE, Olga ; COLOMO, Luis ; MARTINEZ, Antonio ; DELABIE, Jan ; TADDESSE-HEATH, Lekidelu ; JAFFE, Elaine S ; CAMPO, Elias

The American journal of surgical pathology, 2010-11, Vol.34 (11), p.1686-1694 [Periódico revisado por pares]

Hagerstown, MD: Lippincott Williams & Wilkins

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8
The tomato genome sequence provides insights into fleshy fruit evolution
The tomato genome sequence provides insights into fleshy fruit evolution
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The tomato genome sequence provides insights into fleshy fruit evolution

Tomato Genome Consortium ; Sato, S ; Guigó Serra, Roderic ; Cámara, Francisco ; Gianese, S

Nature Publishing Group 2012

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9
Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes
Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes
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Artigo 		Adicionar ao Meu Espaço

Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes

Nakagawa, Kenji ; Gonzalez Roca, Eva ; Souto, Alejandro ; Kawai, Toshinao ; Umebayashi, Hiroaki ; Campistol Plana, Jaume ; Cañellas, Jeronima ; Takei, Syuji ; Kobayashi, Norimoto ; Callejas Rubio, José Luis ; Ortego Centeno, Norberto ; Ruiz Ortiz, Estíbaliz ; Rius, Fina ; Antón López, Jordi ; Iglesias Jiménez, Estíbaliz ; Jiménez Treviño, Santiago ; Vargas, Carmen ; Fernandez Martin, Julian ; Calvo, Inmaculada ; Hernández Rodríguez, José ; Méndez, María ; Dordal, María Teresa ; Basagaña, Maria ; Buján Rivas, Segundo ; Yashiro, Masato ; Kubota, Tetsuo ; Koike, Ryuji ; Akuta, Naoko ; Shimoyama, Kumiko ; Iwata, Naomi ; Saito, Megumu K ; Ohara, Osamu ; Kambe, Naotomo ; Yasumi, Takahiro ; Izawa, Kazushi ; Kawai, Tomoki ; Heike, Toshio ; Yagüe, Jordi ; Nishikomori, Ryuta ; Aróstegui Gorospe, Juan Ignacio

BMJ Publishing Group 2015-03

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10
Hsp90 inhibition protects against inherited retinal degeneration
Hsp90 inhibition protects against inherited retinal degeneration
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Hsp90 inhibition protects against inherited retinal degeneration

Aguilà, Mònica ; Bevilacqua, Dalila ; McCulley, Caroline ; Schwarz, Nele ; Athanasiou, Dimitra ; Kanuga, Naheed ; Novoselov, Sergey S ; Lange, Clemens A K ; Ali, Robin R ; Bainbridge, James W ; Gias, Carlos ; Coffey, Peter J ; Garriga, Pere ; Cheetham, Michael E

Human molecular genetics, 2014-04, Vol.23 (8), p.2164-2175 [Periódico revisado por pares]

England: Oxford University Press

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