Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy

被引：24

作者：

Aartsma-Rus, Annemieke ^{[1
]}

Hegde, Madhuri ^{[2
,3
,4
]}

Ben-Omran, Tawfeg ^{[5
]}

Buccella, Filippo ^{[6
]}

Ferlini, Alessandra ^{[7
]}

Gallano, Pia ^{[8
]}

Howell, R. Rodney ^{[9
]}

Leturcq, France ^{[10
]}

Martin, Ann S. ^{[11
]}

Potulska-Chromik, Anna ^{[12
]}

Saute, Jonas A. ^{[13
,14
,15
]}

Schmidt, Wolfgang M. ^{[16
]}

Sejersen, Thomas ^{[17
,18
]}

Tuffery-Giraud, Sylvie ^{[19
]}

Uyguner, Zehra Oya ^{[20
]}

Witcomb, Luci A. ^{[21
]}

Yau, Shu ^{[22
]}

Nelson, Stanley F. ^{[23
]}

机构：

[1] Leiden Univ, Dept Human Genet, Med Ctr, Leiden, Netherlands

[2] Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA USA

[3] Georgia Inst Technol, Sch Biol Sci, Atlanta, GA 30332 USA

[4] Perkin Elmer Genet, Atlanta, GA USA

[5] Hamad Med Corp, Dept Pediat, Clin & Metab Genet, Doha, Qatar

[6] Duchenne Parent Project Italy, Rome, Italy

[7] Univ Ferrara, Unit Med Genet, Ferrara, Italy

[8] Hosp Santa Creu & Sant Pau, CIBERER U705, Serv Genet, Barcelona, Spain

[9] Univ Miami, Miller Sch Med, Miami, FL 33136 USA

[10] Cochin Hosp, Hosp Univ Paris Ctr, Dept Genet & Mol Biol, Paris, France

[11] Parent Project Muscular Dystrophy, Hackensack, NJ USA

[12] Med Univ Warsaw, Dept Neurol, Warsaw, Poland

[13] Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, Brazil

[14] Hosp Clin Porto Alegre, Neurol Serv, Porto Alegre, RS, Brazil

[15] Univ Fed Rio Grande do Sul, Dept Internal Med, Porto Alegre, RS, Brazil

[16] Med Univ Vienna, Dept Neuromuscular Res, Vienna, Austria

[17] Karolinska Inst, Dept Womens & Childrens Hlth, Stockholm, Sweden

[18] Karolinska Univ Hosp, Astrid Lindgrens Barnsjukhus, Stockholm, Sweden

[19] Univ Montpellier, Lab Rare Genet Dis LGMR, Montpellier, France

[20] Istanbul Univ, Istanbul Fac Med, Dept Med Genet, Istanbul, Turkey

[21] PharmaGenesis London, London, England

[22] Guys Hosp, Viapath Analyt, London, England

[23] Univ Calif Los Angeles, Dept Human Genet, Los Angeles, CA 90095 USA

来源：

JOURNAL OF PEDIATRICS | 2019年 / 204卷

关键词：

LEFT-VENTRICULAR DYSFUNCTION; DE-NOVO MUTATION; DMD GENE; CARDIAC INVOLVEMENT; MEDICAL GENETICS; FEMALE CARRIERS; MESSENGER-RNA; DELETIONS; KNOWLEDGE; VARIANTS;

D O I：

10.1016/j.jpeds.2018.10.043

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：305 / +

页数：23

共 129 条

[1] The importance of genetic diagnosis for Duchenne muscular dystrophy [J].

Aartsma-Rus, Annemieke ;

Ginjaar, Ieke B. ;

Bushby, Kate .

JOURNAL OF MEDICAL GENETICS, 2016, 53 (03) :145-151

[2]

Abbs Stephen, 2010, Neuromuscul Disord, V20, P422, DOI 10.1016/j.nmd.2010.04.005

[3] Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies [J].

Alame, Melissa ;

Lacourt, Delphine ;

Zenagui, Reda ;

Mechin, Deborah ;

Danton, Fabienne ;

Koenig, Michel ;

Claustres, Mireille ;

Cossee, Mireille .

JOURNAL OF MOLECULAR DIAGNOSTICS, 2016, 18 (05) :731-740

[4]

Araujo APQC, 2017, ARQ NEURO-PSIQUIAT, V75, P104, DOI [10.1590/0004-282X20170112, 10.1590/0004-282x20170112]

[5] Deficiency of knowledge of genetics and genetic tests among general practitioners, gynecologists, and pediatricians: A global problem [J].

Baars, MJH ;

Henneman, L ;

ten Kate, LP .

GENETICS IN MEDICINE, 2005, 7 (09) :605-610

[6] Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy [J].

Barp, Andrea ;

Bello, Luca ;

Politano, Luisa ;

Melacini, Paola ;

Calore, Chiara ;

Polo, Angela ;

Vianello, Sara ;

Soraru, Gianni ;

Semplicini, Claudio ;

Pantic, Boris ;

Taglia, Antonella ;

Picillo, Ester ;

Magri, Francesca ;

Gorni, Ksenija ;

Messina, Sonia ;

Vita, Gian Luca ;

Vita, Giuseppe ;

Comi, Giacomo P. ;

Ermani, Mario ;

Calvo, Vincenzo ;

Angelini, Corrado ;

Hoffman, Eric P. ;

Pegoraro, Elena .

PLOS ONE, 2015, 10 (10)

[7] Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms [J].

Baskin, Berivan ;

Stavropoulos, Dimitri J. ;

Rebeiro, Paige A. ;

Orr, Jennifer ;

Li, Martin ;

Steele, Leslie ;

Marshall, Christian R. ;

Lemire, Edmond G. ;

Boycott, Kym M. ;

Gibson, William ;

Ray, Peter N. .

MOLECULAR GENETICS & GENOMIC MEDICINE, 2014, 2 (06) :539-547

[8] Duchenne muscular dystrophy caused by a complex rearrangement between intron 43 of the DMD gene and chromosome 4 [J].

Baskin, Berivan ;

Gibson, William T. ;

Ray, Peter N. .

NEUROMUSCULAR DISORDERS, 2011, 21 (03) :178-182

[9] DMD genotypes and loss of ambulation in the CINRG Duchenne Natural History Study [J].

Bello, Luca ;

Morgenroth, Lauren P. ;

Gordish-Dressman, Heather ;

Hoffman, Eric P. ;

McDonald, Craig M. ;

Cirak, Sebahattin .

NEUROLOGY, 2016, 87 (04) :401-409

[10] Genetic Modifiers of Ambulation in the Cooperative International Neuromuscular Research Group Duchenne Natural History Study [J].

Bello, Luca ;

Kesari, Akanchha ;

Gordish-Dressman, Heather ;

Cnaan, Avital ;

Morgenroth, Lauren P. ;

Punetha, Jaya ;

Duong, Tina ;

Henricson, Erik K. ;

Pegoraro, Elena ;

McDonald, Craig M. ;

Hoffman, Eric P. .

ANNALS OF NEUROLOGY, 2015, 77 (04) :684-696

← 1 2 3 4 5 6 7 8 9 10 →