Publications:

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Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels.

Bmc Medical Genomics

Cannon, S S; Williams, M M; Gunning, A C AC; Wright, C F CF

Publication Date: 2023-02-28

Variant appearance in text: DMD: 10101_10103del

PubMed Link: 36855133

Variant Present in the following documents:

• 12920_2023_1454_MOESM2_ESM.xlsx, sheet 1

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Dp71 Point Mutations Induce Protein Aggregation, Loss of Nuclear Lamina Integrity and Impaired Braf35 and Ibraf Function in Neuronal Cells.

International Journal Of Molecular Sciences

Rugerio-Martínez, Claudia Ivette CI; Ramos, Daniel D; Segura-Olvera, Abel A; Murillo-Melo, Nadia Mireya NM; Tapia-Guerrero, Yessica Sarai YS; Argüello-García, Raúl R; Leyva-García, Norberto N; Hernández-Hernández, Oscar O; Cisneros, Bulmaro B; Suárez-Sánchez, Rocío R

Publication Date: 2022-10-06

Variant appearance in text: DMD: E3367del

PubMed Link: 36233175

Variant Present in the following documents:

• Main text
• ijms-23-11876.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: 10101_10103del; Glu3367del

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: 10101_10103del; Glu3367del

PubMed Link: 29973226

Variant Present in the following documents:

• 13023_2018_853_MOESM1_ESM.pdf

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DMDtoolkit: a tool for visualizing the mutated dystrophin protein and predicting the clinical severity in DMD.

Bmc Bioinformatics

Zhou, Jiapeng J; Xin, Jing J; Niu, Yayun Y; Wu, Shiwen S

Publication Date: 2017-02-02

Variant appearance in text: DMD: 10101_10103delAGA; Glu3367del

PubMed Link: 28152980

Variant Present in the following documents:

• Main text
• 12859_2017_Article_1504.pdf

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Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies.

Scientific Reports

Bello, Luca L; Campadello, Paola P; Barp, Andrea A; Fanin, Marina M; Semplicini, Claudio C; Sorarù, Gianni G; Caumo, Luca L; Calore, Chiara C; Angelini, Corrado C; Pegoraro, Elena E

Publication Date: 2016-09-01

Variant appearance in text: DMD: 10099_10101delGAA

PubMed Link: 27582364

Variant Present in the following documents:

• Main text
• srep32439.pdf

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DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations.

Plos One

Juan-Mateu, Jonas J; Gonzalez-Quereda, Lidia L; Rodriguez, Maria Jose MJ; Baena, Manel M; Verdura, Edgard E; Nascimento, Andres A; Ortez, Carlos C; Baiget, Montserrat M; Gallano, Pia P

Publication Date: 2015

Variant appearance in text: DMD: Glu3367del

PubMed Link: 26284620

Variant Present in the following documents:

• Main text
• pone.0135189.pdf

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A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.

European Journal Of Human Genetics : Ejhg

de Brouwer, Arjan P M AP; Nabuurs, Sander B SB; Verhaart, Ingrid E C IE; Oudakker, Astrid R AR; Hordijk, Roel R; Yntema, Helger G HG; Hordijk-Hos, Jannet M JM; Voesenek, Krysta K; de Vries, Bert B A BB; van Essen, Ton T; Chen, Wei W; Hu, Hao H; Chelly, Jamel J; den Dunnen, Johan T JT; Kalscheuer, Vera M VM; Aartsma-Rus, Annemieke M AM; Hamel, Ben C J BC; van Bokhoven, Hans H; Kleefstra, Tjitske T

Publication Date: 2014-04

Variant appearance in text: DMD: Glu3367del

PubMed Link: 23900271

Variant Present in the following documents:

• Main text

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Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.

Plos One

Juan-Mateu, Jonàs J; González-Quereda, Lidia L; Rodríguez, Maria José MJ; Verdura, Edgard E; Lázaro, Kira K; Jou, Cristina C; Nascimento, Andrés A; Jiménez-Mallebrera, Cecilia C; Colomer, Jaume J; Monges, Soledad S; Lubieniecki, Fabiana F; Foncuberta, Maria Eugenia ME; Pascual-Pascual, Samuel Ignacio SI; Molano, Jesús J; Baiget, Montserrat M; Gallano, Pia P

Publication Date: 2013

Variant appearance in text: DMD: 10101_10103del; Glu3367del

PubMed Link: 23536893

Variant Present in the following documents:

• Main text
• pone.0059916.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: E3367del

PubMed Link: 19959795

Variant Present in the following documents:

• Main text

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