233 related articles for article (PubMed ID: 36361862)
1. An Ultra-Rare Manifestation of an X-Linked Recessive Disorder: Duchenne Muscular Dystrophy in a Female Patient.
Szűcs Z; Pinti É; Haltrich I; Szén OP; Nagy T; Barta E; Méhes G; Bidiga L; Török O; Ujfalusi A; Koczok K; Balogh I
Int J Mol Sci; 2022 Oct; 23(21):. PubMed ID: 36361862
[TBL] [Abstract][Full Text] [Related]
2. Symptomatic female carriers of Duchenne muscular dystrophy (DMD): genetic and clinical characterization.
Giliberto F; Radic CP; Luce L; Ferreiro V; de Brasi C; Szijan I
J Neurol Sci; 2014 Jan; 336(1-2):36-41. PubMed ID: 24135430
[TBL] [Abstract][Full Text] [Related]
3. Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy.
Viggiano E; Ergoli M; Picillo E; Politano L
Hum Genet; 2016 Jul; 135(7):685-98. PubMed ID: 27098336
[TBL] [Abstract][Full Text] [Related]
4. Whole-Genome Sequencing Identified New Structural Variations in the
Pluta N; von Moers A; Pechmann A; Stenzel W; Goebel HH; Atlan D; Wolf B; Nanda I; Zaum AK; Rost S
Int J Mol Sci; 2023 Sep; 24(17):. PubMed ID: 37686372
[TBL] [Abstract][Full Text] [Related]
5. Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype.
Brioschi S; Gualandi F; Scotton C; Armaroli A; Bovolenta M; Falzarano MS; Sabatelli P; Selvatici R; D'Amico A; Pane M; Ricci G; Siciliano G; Tedeschi S; Pini A; Vercelli L; De Grandis D; Mercuri E; Bertini E; Merlini L; Mongini T; Ferlini A
BMC Med Genet; 2012 Aug; 13():73. PubMed ID: 22894145
[TBL] [Abstract][Full Text] [Related]
6. Genetic analysis of 62 Chinese families with Duchenne muscular dystrophy and strategies of prenatal diagnosis in a single center.
Zhang J; Ma D; Liu G; Wang Y; Liu A; Li L; Luo C; Hu P; Xu Z
BMC Med Genet; 2019 Nov; 20(1):180. PubMed ID: 31727011
[TBL] [Abstract][Full Text] [Related]
7. Prenatal diagnosis of Duchenne muscular dystrophy revealed a novel mosaic mutation in Dystrophin gene: a case report.
Wang Y; Chen Y; Wang SM; Liu X; Gu YN; Feng Z
BMC Med Genet; 2020 Nov; 21(1):222. PubMed ID: 33176713
[TBL] [Abstract][Full Text] [Related]
8. Next Generation Sequencing approach to molecular diagnosis of Duchenne muscular dystrophy; identification of a novel mutation.
Ebrahimzadeh-Vesal R; Teymoori A; Azimi-Nezhad M; Hosseini FS
Gene; 2018 Feb; 644():1-3. PubMed ID: 29246534
[TBL] [Abstract][Full Text] [Related]
9. Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting the
Erbe LS; Hoffjan S; Janßen S; Kneifel M; Krause K; Gerding WM; Döring K; Güttsches AK; Roos A; Buena Atienza E; Gross C; Lücke T; Nguyen HHP; Vorgerd M; Köhler C
Int J Mol Sci; 2023 Sep; 24(19):. PubMed ID: 37834164
[TBL] [Abstract][Full Text] [Related]
10. A DMD case caused by X chromosome rearrangement.
Hu H; Yang XW; Cheng DH; Li XR; He WB; Hu X; Gao BD; Zhao XM; Zhang QJ; Du J; Liu JY; Lu GX; Ge L; Li W
Yi Chuan; 2023 Jan; 45(1):88-95. PubMed ID: 36927641
[TBL] [Abstract][Full Text] [Related]
11. Application whole exome sequencing for the clinical molecular diagnosis of patients with Duchenne muscular dystrophy; identification of four novel nonsense mutations in four unrelated Chinese DMD patients.
Zhang Y; Yang W; Wen G; Wu Y; Jing Z; Li D; Tang M; Liu G; Wei X; Zhong Y; Li Y; Deng Y
Mol Genet Genomic Med; 2019 May; 7(5):e622. PubMed ID: 30938079
[TBL] [Abstract][Full Text] [Related]
12. Skewed X-chromosome inactivation plays a crucial role in the onset of symptoms in carriers of Becker muscular dystrophy.
Viggiano E; Picillo E; Ergoli M; Cirillo A; Del Gaudio S; Politano L
J Gene Med; 2017 Apr; 19(4):. PubMed ID: 28316128
[TBL] [Abstract][Full Text] [Related]
13. A novel canine model for Duchenne muscular dystrophy (DMD): single nucleotide deletion in DMD gene exon 20.
Mata López S; Hammond JJ; Rigsby MB; Balog-Alvarez CJ; Kornegay JN; Nghiem PP
Skelet Muscle; 2018 May; 8(1):16. PubMed ID: 29843823
[TBL] [Abstract][Full Text] [Related]
14. [Family genetic analysis of paternal Dystrophin gene mutations in a case of female Duchenne muscular dystrophy].
Mao YY; Chen Q; Zhang X; Xu KM; Gao ZJ; Zhang PP
Zhonghua Yi Xue Za Zhi; 2021 Dec; 101(48):3973-3976. PubMed ID: 34955001
[TBL] [Abstract][Full Text] [Related]
15. Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy.
Quan F; Janas J; Toth-Fejel S; Johnson DB; Wolford JK; Popovich BW
Am J Hum Genet; 1997 Jan; 60(1):160-5. PubMed ID: 8981959
[TBL] [Abstract][Full Text] [Related]
16. A rare complex structural variant of novel intragenic inversion combined with reciprocal translocation t(X;1)(p21.2;p13.3) in Duchenne muscular dystrophy.
Wang Y; Wen X; Shen XM; Di L; Sun Y; Li Y; Zhang S; Wen Q; Wang J; Duo J; Huang Y; Lu Y; Xu M; Wang M; Chen H; Zhu W; Da Y
Neuromuscul Disord; 2024 Jun; 39():24-29. PubMed ID: 38714145
[TBL] [Abstract][Full Text] [Related]
17. Clinical, pathological, and genetic characterization in a large Chinese cohort with female dystrophinopathy.
Liu C; Ma J; Lu Y; Lu Y; Mai J; Bai L; Wang Y; Zheng Y; Yu M; Zheng Y; Deng J; Meng L; Zhang W; Wang Z; Yuan Y; Xie Z
Neuromuscul Disord; 2023 Oct; 33(10):728-736. PubMed ID: 37716855
[TBL] [Abstract][Full Text] [Related]
18. Molecular characterization of co-occurring Duchenne muscular dystrophy and X-linked oculo-facio-cardio-dental syndrome in a girl.
Jiang YH; Fang P; Adesina AM; Furman P; Johnston JJ; Biesecker LG; Brown CW
Am J Med Genet A; 2009 Jun; 149A(6):1249-52. PubMed ID: 19449433
[TBL] [Abstract][Full Text] [Related]
19. Genetic polymorphism in muscle biopsies of Duchenne and Becker muscular dystrophy patients.
Anand A; Prabhakar S; Kaul D
Neurol India; 1999 Sep; 47(3):218-23. PubMed ID: 10514583
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
