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Items: 1 to 20 of 111

1.

Duchenne muscular dystrophy in a 4-year-old girl due to heterozygous frame shift deletion of the dystrophin gene and skewed X-inactivation.

Schänzer A, Rau I, Kress W, Köhler A, Neubauer B, Hahn A.

Klin Padiatr. 2012 Jul;224(4):256-8. Epub 2012 Apr 27.

PMID:
22549471
2.

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 16;13:73.

3.

Marked hemiatrophy in carriers of Duchenne muscular dystrophy.

Rajakulendran S, Kuntzer T, Dunand M, Yau SC, Ashton EJ, Storey H, McCauley J, Abbs S, Thonney F, Leturcq F, Lobrinus JA, Yousry T, Farmer S, Holton JL, Hanna MG.

Arch Neurol. 2010 Apr;67(4):497-500. doi: 10.1001/archneurol.2010.58.

PMID:
20385919
4.

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. doi: 10.1007/s00439-016-1666-6. Epub 2016 Apr 21. Review.

PMID:
27098336
5.

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 15;336(1-2):36-41. doi: 10.1016/j.jns.2013.09.036. Epub 2013 Oct 5.

PMID:
24135430
6.

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.

7.

Muscle X-inactivation patterns and dystrophin expression in Duchenne muscular dystrophy carriers.

Matthews PM, Benjamin D, Van Bakel I, Squier MV, Nicholson LV, Sewry C, Barnes PR, Hopkin J, Brown R, Hilton-Jones D, et al.

Neuromuscul Disord. 1995 May;5(3):209-20.

PMID:
7633186
8.

Duchenne muscular dystrophy in a female patient with a karyotype of 46,X,i(X)(q10).

Ou Z, Li S, Li Q, Chen X, Liu W, Sun X.

Tohoku J Exp Med. 2010 Oct;222(2):149-53.

9.

Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.

Juan-Mateu J, Rodríguez MJ, Nascimento A, Jiménez-Mallebrera C, González-Quereda L, Rivas E, Paradas C, Madruga M, Sánchez-Ayaso P, Jou C, González-Mera L, Munell F, Roig-Quilis M, Rabasa M, Hernández-Lain A, Díaz-Manera J, Gallardo E, Pascual J, Verdura E, Colomer J, Baiget M, Olivé M, Gallano P.

Orphanet J Rare Dis. 2012 Oct 23;7:82. doi: 10.1186/1750-1172-7-82.

10.

Absence of neuronal nitric oxide synthase (nNOS) as a pathological marker for the diagnosis of Becker muscular dystrophy with rod domain deletions.

Torelli S, Brown SC, Jimenez-Mallebrera C, Feng L, Muntoni F, Sewry CA.

Neuropathol Appl Neurobiol. 2004 Oct;30(5):540-5.

PMID:
15488030
11.

Duchenne muscular dystrophy: a clinical, histopathological and genetic study at a neurology tertiary care center in Southern India.

Swaminathan B, Shubha GN, Shubha D, Murthy AR, Kiran Kumar HB, Shylashree S, Gayathri N, Jamuna R, Jain S, Purushottam M, Nalini A.

Neurol India. 2009 Nov-Dec;57(6):734-8. doi: 10.4103/0028-3886.59468.

12.

Variability in clinical, genetic and protein abnormalities in manifesting carriers of Duchenne and Becker muscular dystrophy.

Bushby KM, Goodship JA, Nicholson LV, Johnson MA, Haggerty ID, Gardner-Medwin D.

Neuromuscul Disord. 1993 Jan;3(1):57-64.

PMID:
8329890
13.

Dystrophin in frameshift deletion patients with Becker muscular dystrophy.

Gangopadhyay SB, Sherratt TG, Heckmatt JZ, Dubowitz V, Miller G, Shokeir M, Ray PN, Strong PN, Worton RG.

Am J Hum Genet. 1992 Sep;51(3):562-70.

14.

Congestive heart failure with rhabdomyolysis and acute renal failure in a manifesting female carrier of Duchenne muscular dystrophy with duplication of dystrophin gene.

Tunteeratum A, Witoonpanich R, Phudhichareonrat S, Eu-ahsunthornwattana J, Pingsuthiwong S, Srichan K, Sura T.

J Clin Neuromuscul Dis. 2009 Sep;11(1):49-53. doi: 10.1097/CND.0b013e3181adcda7.

PMID:
19730022
15.

Duchenne gene carrier as cause of asymptomatic hyperckemia.

Almeida DF, Melo AC Jr, Bittencourt PR.

Arq Neuropsiquiatr. 2008 Jun;66(2B):425-7. No abstract available.

16.

Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy.

Papa R, Madia F, Bartolomeo D, Trucco F, Pedemonte M, Traverso M, Broda P, Bruno C, Zara F, Minetti C, Fiorillo C.

Pediatr Neurol. 2016 Feb;55:58-63. doi: 10.1016/j.pediatrneurol.2015.11.004. Epub 2015 Nov 26.

PMID:
26718981
17.

Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy.

Beggs AH, Neumann PE, Arahata K, Arikawa E, Nonaka I, Anderson MS, Kunkel LM.

Proc Natl Acad Sci U S A. 1992 Jan 15;89(2):623-7.

18.

[Symptomatic carriers of dystrophinopathy with chromosome X inactivation bias].

Lesca G, Demarquay G, Llense S, Streichenberger N, Petiot P, Michel-Calemard L, Récan D, Vial C, Ollagnon-Roman E.

Rev Neurol (Paris). 2003 Sep;159(8-9):775-80. French.

PMID:
13679720
19.

Absence of correlation between skewed X inactivation in blood and serum creatine-kinase levels in Duchenne/Becker female carriers.

Sumita DR, Vainzof M, Campiotto S, Cerqueira AM, Cánovas M, Otto PA, Passos-Bueno MR, Zatz M.

Am J Med Genet. 1998 Dec 4;80(4):356-61.

PMID:
9856563
20.

X inactivation and dystrophin studies in a t(X;12) female: evidence for biochemical normalization in Duchenne muscular dystrophy carriers.

Wenger SL, Steele MW, Hoffman EP, Barmada MA, Wessel HB.

Am J Med Genet. 1992 Aug 1;43(6):1012-5.

PMID:
1415326

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