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Refinado por: assunto: eng remover assunto: Hereditary Hemorrhagic Telangiectasia remover
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1
Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Bi-allelic Loss of ENG or ACVRL1
Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Bi-allelic Loss of ENG or ACVRL1
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Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Bi-allelic Loss of ENG or ACVRL1

Snellings, Daniel A. ; Gallione, Carol J. ; Clark, Dewi S. ; Vozoris, Nicholas T. ; Faughnan, Marie E. ; Marchuk, Douglas A.

American journal of human genetics, 2019-11, Vol.105 (5), p.894-906 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Longitudinal Assessment of Curaçao Criteria in Children with Hereditary Hemorrhagic Telangiectasia
Longitudinal Assessment of Curaçao Criteria in Children with Hereditary Hemorrhagic Telangiectasia
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Longitudinal Assessment of Curaçao Criteria in Children with Hereditary Hemorrhagic Telangiectasia

Pollak, Mordechai ; Gatt, Dvir ; Shaw, Michelle ; Hewko, Sheryl L ; Lamanna, Anthony ; Santos, Sara ; Ratjen, Felix

The Journal of pediatrics, 2023-12, Vol.263, p.113665, Article 113665 [Periódico revisado por pares]

United States

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3
Vascular defects associated with hereditary hemorrhagic telangiectasia revealed in patient-derived isogenic iPSCs in 3D vessels on chip
Vascular defects associated with hereditary hemorrhagic telangiectasia revealed in patient-derived isogenic iPSCs in 3D vessels on chip
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Vascular defects associated with hereditary hemorrhagic telangiectasia revealed in patient-derived isogenic iPSCs in 3D vessels on chip

Orlova, Valeria V. ; Nahon, Dennis M. ; Cochrane, Amy ; Cao, Xu ; Freund, Christian ; van den Hil, Francijna ; Westermann, Cornelius J.J. ; Snijder, Repke J. ; Ploos van Amstel, Johannes Kristian ; ten Dijke, Peter ; Lebrin, Franck ; Mager, Hans-Jurgen ; Mummery, Christine L.

Stem cell reports, 2022-07, Vol.17 (7), p.1536-1545 [Periódico revisado por pares]

Elsevier

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4
Functional characterization of variants found in Japanese patients with hereditary hemorrhagic telangiectasia
Functional characterization of variants found in Japanese patients with hereditary hemorrhagic telangiectasia
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Functional characterization of variants found in Japanese patients with hereditary hemorrhagic telangiectasia

Morita, Shuhei ; Nomura, Shunsuke ; Azuma, Kenko ; Chida-Nagai, Ayako ; Furutani, Yoshiyuki ; Inai, Kei ; Inoue, Tatsuya ; Niimi, Yasunari ; Iizuka, Yuo ; Tsutsumi, Yoshiyuki ; Ishizaki, Reina ; Yamagishi, Hiroyuki ; Kawamata, Takakazu ; Akagawa, Hiroyuki

Clinical genetics, 2024-05, Vol.105 (5), p.543-548 [Periódico revisado por pares]

Denmark: Blackwell Publishing Ltd

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5
Genetic variants and clinical phenotypes in Korean patients with hereditary hemorrhagic telangiectasia
Genetic variants and clinical phenotypes in Korean patients with hereditary hemorrhagic telangiectasia
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Genetic variants and clinical phenotypes in Korean patients with hereditary hemorrhagic telangiectasia

Kim, Bo Gyeong ; Jung, Joo-Hyun ; Kim, Mi-Jung ; Moon, Eun Hyue ; Oh, Jae-Hwan ; Park, Jung-Woo ; Cha, Heung-Eog ; Kim, Ju-Hyun ; Kim, Yoon-Jae ; Chung, Jun-Won ; Hahm, Ki-Baik ; Jin, Hong-Ryul ; Jang, Yong-Ju ; Kim, Sung Wan ; Chung, Seung-Kyu ; Kim, Dae-Woo ; Lee, Young Jae ; Kim, Seon-Tae

Clinical and Experimental Otorhinolaryngology, 2021, 14(4), , pp.399-406 [Periódico revisado por pares]

Korea (South): Korean Society of Otorhinolaryngology-Head and Neck Surgery

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6
Vasospastic angina in a boy with hereditary hemorrhagic telangiectasia due to heterogenous large deletion around ENG
Vasospastic angina in a boy with hereditary hemorrhagic telangiectasia due to heterogenous large deletion around ENG
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Vasospastic angina in a boy with hereditary hemorrhagic telangiectasia due to heterogenous large deletion around ENG

Narazaki, Kentaro ; Nagatomo, Yusaku ; Uike, Kiyoshi ; Sonoda, Motoshi ; Nagata, Hazumu ; Yamamura, Kenichiro ; Ohga, Shouichi

Pediatrics international, 2023-01, Vol.65 (1), p.e15500-n/a [Periódico revisado por pares]

Australia: Blackwell Publishing Ltd

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7
A novel frameshift mutation of the endoglin(ENG) gene causes hereditary hemorrhagic telangiectasia in a Chinese family
A novel frameshift mutation of the endoglin(ENG) gene causes hereditary hemorrhagic telangiectasia in a Chinese family
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A novel frameshift mutation of the endoglin(ENG) gene causes hereditary hemorrhagic telangiectasia in a Chinese family

Li, Peng ; Gao, Chunhai ; Wei, Yuda ; Zhao, Xiangyu ; Sun, Dezhong ; Lin, Liqiang ; Yang, Yangyang ; Shao, Qiang ; Lv, Huaiqing

European archives of oto-rhino-laryngology, 2024, Vol.281 (1), p.237-243 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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8
Brain arteriovenous malformation in hereditary hemorrhagic telangiectasia: Recent advances in cellular and molecular mechanisms
Brain arteriovenous malformation in hereditary hemorrhagic telangiectasia: Recent advances in cellular and molecular mechanisms
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Brain arteriovenous malformation in hereditary hemorrhagic telangiectasia: Recent advances in cellular and molecular mechanisms

Drapé, Elise ; Anquetil, Typhaine ; Larrivée, Bruno ; Dubrac, Alexandre

Frontiers in human neuroscience, 2022-11, Vol.16, p.1006115-1006115 [Periódico revisado por pares]

Switzerland: Frontiers Research Foundation

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9
Genetic testing for hereditary hemorrhagic telangiectasia
Genetic testing for hereditary hemorrhagic telangiectasia
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Genetic testing for hereditary hemorrhagic telangiectasia

Rakhmanov, Yeltay ; Maltese, Paolo Enrico ; Paolacci, Stefano ; Marinelli, Carla ; Mattassi, Raul Ettore ; Amato, Bruno ; Beccari, Tommaso ; Dundar, Munis ; Bertelli, Matteo

The eurobiotech journal, 2018-09, Vol.2 (1), p.32-34 [Periódico revisado por pares]

Sciendo

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10
Identification of a novel ENG gene mutation (c.1550_1551dupTG, p.S518) in a Chinese family with hereditary hemorrhagic telangiectasia
Identification of a novel ENG gene mutation (c.1550_1551dupTG, p.S518) in a Chinese family with hereditary hemorrhagic telangiectasia
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Identification of a novel ENG gene mutation (c.1550_1551dupTG, p.S518) in a Chinese family with hereditary hemorrhagic telangiectasia

Chen, Fang ; Yang, Mengxue ; Wen, Zhong ; Yu, Chaosheng

Medicina clínica, 2021-12, Vol.157 (11), p.537-541 [Periódico revisado por pares]

Elsevier España, S.L.U

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