Publications:

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Circadian Genes as Exploratory Biomarkers in DMD: Results From Both the mdx Mouse Model and Patients.

Frontiers In Physiology

Rossi, Rachele R; Falzarano, Maria Sofia MS; Osman, Hana H; Armaroli, Annarita A; Scotton, Chiara C; Mantuano, Paola P; Boccanegra, Brigida B; Cappellari, Ornella O; Schwartz, Elena E; Yuryev, Anton A; Mercuri, Eugenio E; Bertini, Enrico E; D'Amico, Adele A; Mora, Marina M; Johansson, Camilla C; Al-Khalili Szigyarto, Cristina C; De Luca, Annamaria A; Ferlini, Alessandra A

Publication Date: 2021

Variant appearance in text: DMD: Q1373X

PubMed Link: 34305639

Variant Present in the following documents:

• Main text
• fphys-12-678974.pdf

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Efficient precise in vivo base editing in adult dystrophic mice.

Nature Communications

Xu, Li L; Zhang, Chen C; Li, Haiwen H; Wang, Peipei P; Gao, Yandi Y; Mokadam, Nahush A NA; Ma, Jianjie J; Arnold, W David WD; Han, Renzhi R

Publication Date: 2021-06-17

Variant appearance in text: DMD: 4117C>T

PubMed Link: 34140489

Variant Present in the following documents:

• 41467_2021_23996_MOESM1_ESM.pdf

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Correction to: Comprehensive genetic characteristics of dystrophinopathies in China.

Orphanet Journal Of Rare Diseases

Ma, Peipei P; Zhang, Shu S; Zhang, Hao H; Fang, Siying S; Dong, Yuru Y; Zhang, Yan Y; Hao, Weiwei W; Wu, Shiwen S; Zhao, Yuying Y

Publication Date: 2021-06-02

Variant appearance in text: DMD: 4117C>T; Gln1373*

PubMed Link: 34078427

Variant Present in the following documents:

• 13023_2021_1853_MOESM1_ESM.pdf

View BVdb publication page

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Comprehensive genetic characteristics of dystrophinopathies in China.

Orphanet Journal Of Rare Diseases

Ma, Peipei P; Zhang, Shu S; Zhang, Hao H; Fang, Siying S; Dong, Yuru Y; Zhang, Yan Y; Hao, Weiwei W; Wu, Shiwen S; Zhao, Yuying Y

Publication Date: 2018-07-04

Variant appearance in text: DMD: 4117C>T; Gln1373*

PubMed Link: 29973226

Variant Present in the following documents:

• 13023_2018_853_MOESM1_ESM.pdf

View BVdb publication page

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Hypermutation and unique mutational signatures of occupational cholangiocarcinoma in printing workers exposed to haloalkanes.

Carcinogenesis

Mimaki, Sachiyo S; Totsuka, Yukari Y; Suzuki, Yutaka Y; Nakai, Chikako C; Goto, Masanori M; Kojima, Motohiro M; Arakawa, Hirofumi H; Takemura, Shigekazu S; Tanaka, Shogo S; Marubashi, Shigeru S; Kinoshita, Masahiko M; Matsuda, Tomonari T; Shibata, Tatsuhiro T; Nakagama, Hitoshi H; Ochiai, Atsushi A; Kubo, Shoji S; Nakamori, Shoji S; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2016-08

Variant appearance in text: DMD: Q1373*

PubMed Link: 27267998

Variant Present in the following documents:

• supp_bgw066_Supplementary_File_1_151127.xlsx, sheet 1

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Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.

Bmc Medical Genetics

Magri, Francesca F; Del Bo, Roberto R; D'Angelo, Maria G MG; Govoni, Alessandra A; Ghezzi, Serena S; Gandossini, Sandra S; Sciacco, Monica M; Ciscato, Patrizia P; Bordoni, Andreina A; Tedeschi, Silvana S; Fortunato, Francesco F; Lucchini, Valeria V; Cereda, Matteo M; Corti, Stefania S; Moggio, Maurizio M; Bresolin, Nereo N; Comi, Giacomo P GP

Publication Date: 2011-03-11

Variant appearance in text: DMD: 4117C>T; Gln1373X

PubMed Link: 21396098

Variant Present in the following documents:

• Main text
• 1471-2350-12-37.pdf

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One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.

The Journal Of Molecular Diagnostics : Jmd

Torella, Annalaura A; Trimarco, Amelia A; Blanco, Francesca Del Vecchio Fdel V; Cuomo, Anna A; Aurino, Stefania S; Piluso, Giulio G; Minetti, Carlo C; Politano, Luisa L; Nigro, Vincenzo V

Publication Date: 2010-01

Variant appearance in text: DMD: 4117C>T; Q1373X

PubMed Link: 19959795

Variant Present in the following documents:

• Main text

View BVdb publication page

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