Identification of Duchenne/Becker muscular dystrophy mosaic carriers through a combined DNA/RNA analysis-Reference-Cited by-同舟云学术

Identification of Duchenne/Becker muscular dystrophy mosaic carriers through a combined DNA/RNA analysis

Published:2018-11-20 Issue:13 Volume:38 Page:1096-1102
ISSN:0197-3851
Container-title:Prenatal Diagnosis
language:en
Short-container-title:Prenatal Diagnosis

Author:

Zampatti Stefania¹^ORCID,Mela Julia¹,Peconi Cristina¹,Pagliaroli Giulia¹,Carboni Stefania¹,Barrano Giuseppe²,Zito Ilaria²,Cascella Raffaella³⁴,Marella Gianluca⁵,Milano Filippo³,Arcangeli Mauro⁶,Caltagirone Carlo⁷,Novelli Antonio²⁸,Giardina Emiliano¹³

Affiliation:

1. Molecular Genetics Laboratory UILDMSanta Lucia Foundation, IRCCS Rome Italy

2. S. Pietro Fatebenefratelli HospitalUOSD Medical Genetics Rome Italy

3. Department of Biomedicine and Prevention, School of MedicineUniversity of Rome 'Tor Vergata' Rome Italy

4. Department of Chemical‐Toxicological and Pharmacological Evaluation of DrugsCatholic University Our Lady of Good Counsel Tirana Albania

5. Department of Experimental Medicine and Surgery, School of MedicineUniversity of Rome "Tor Vergata" Rome Italy

6. Department of Life, Health and Environmental SciencesUniversity of L'Aquila L'Aquila Italy

7. Laboratory of Clinical and Behavioral NeurologyIRCCS Santa Lucia Foundation

8. Medical Genetics Unit, Medical Genetics LaboratoryBambino Gesù Pediatric Hospital, IRCCS Rome Italy

Funder

Ministero della Salute

Publisher

Wiley

Subject

Genetics(clinical),Obstetrics and Gynaecology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/pd.5369

Reference28 articles.

1. Population frequencies of inherited neuromuscular diseases—A world survey

2. The rate of spontaneous mutation of a human gene

3. Cardiac involvement in a female carrier of Duchenne muscular dystrophy

4. Muscle Pain as the Only Presenting Symptom in a Girl With Dystrophinopathy

5. Dystrophinopathy in isolated cases of myopathy in females

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3. Genetic Counseling: Preconception, Prenatal, and Perinatal;Genetic Disorders and the Fetus;2021-04-20

4. Forensic pathology: past, present and future;CLIN TER;2020

5. Comprehensive genetic analysis of 961 unrelated Duchenne Muscular Dystrophy patients: Focus on diagnosis, prevention and therapeutic possibilities;PLOS ONE;2020-06-19