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Items: 1 to 20 of 112

1.

Congenital hydrocephalus secondary to Walker-Warburg syndrome identified on the Manitoba Neonatal Screening Programme for Duchenne muscular dystrophy.

Greenberg CR, Jacobs HK, Nylen TE, Gibb M, Chodirker BN, Moffatt M, Lacson A, Halliday W, Bernier F, el-Husseini A, et al.

J Med Genet. 1992 Aug;29(8):583-5.

2.

Identifying Non-Duchenne Muscular Dystrophy-Positive and False Negative Results in Prior Duchenne Muscular Dystrophy Newborn Screening Programs: A Review.

Gatheridge MA, Kwon JM, Mendell JM, Scheuerbrandt G, Moat SJ, Eyskens F, Rockman-Greenberg C, Drousiotou A, Griggs RC.

JAMA Neurol. 2016 Jan;73(1):111-6. doi: 10.1001/jamaneurol.2015.3537. Review.

PMID:
26594870
3.

Neonatal screening for Duchenne muscular dystrophy: a novel semiquantitative application of the bioluminescence test for creatine kinase in a pilot national program in Cyprus.

Drousiotou A, Ioannou P, Georgiou T, Mavrikiou E, Christopoulos G, Kyriakides T, Voyasianos M, Argyriou A, Middleton L.

Genet Test. 1998;2(1):55-60.

PMID:
10464597
4.

Impact of genetic counselling after neonatal screening for Duchenne muscular dystrophy.

Hildes E, Jacobs HK, Cameron A, Seshia SS, Booth F, Evans JA, Wrogemann K, Greenberg CR.

J Med Genet. 1993 Aug;30(8):670-4.

5.
6.

Evidence-based path to newborn screening for Duchenne muscular dystrophy.

Mendell JR, Shilling C, Leslie ND, Flanigan KM, al-Dahhak R, Gastier-Foster J, Kneile K, Dunn DM, Duval B, Aoyagi A, Hamil C, Mahmoud M, Roush K, Bird L, Rankin C, Lilly H, Street N, Chandrasekar R, Weiss RB.

Ann Neurol. 2012 Mar;71(3):304-13. doi: 10.1002/ana.23528.

PMID:
22451200
7.
8.

Gene studies in newborn males with Duchenne muscular dystrophy detected by neonatal screening.

Greenberg CR, Rohringer M, Jacobs HK, Averill N, Nylen E, van Ommen GJ, Wrogemann K.

Lancet. 1988 Aug 20;2(8608):425-7.

PMID:
2900355
9.

Hydrocephalus, lissencephaly, ocular abnormalities and congenital muscular dystrophy. A Warburg syndrome variant?

Pavone L, Gullotta F, Grasso S, Vannucchi C.

Neuropediatrics. 1986 Nov;17(4):206-11.

PMID:
3100980
10.

[Walker-Warburg syndrome: cerebro-ocular dysgenesis and congenital muscular dystrophy].

Macaya Ruiz A, Roig Quilis M, Sancho Olivé S, Navarro Fernández-Valbuena C, Tallada Serra M, Olesti Marco M.

An Esp Pediatr. 1989 Nov;31(5):465-9. Spanish.

PMID:
2619134
11.

Failure of early diagnosis in symptomatic Duchenne muscular dystrophy.

Bushby KM, Hill A, Steele JG.

Lancet. 1999 Feb 13;353(9152):557-8. No abstract available.

PMID:
10028989
12.

Experience with screening newborns for Duchenne muscular dystrophy in Wales.

Bradley DM, Parsons EP, Clarke AJ.

BMJ. 1993 Feb 6;306(6874):357-60.

13.

Duchenne muscular dystrophy: systematic neonatal screening and earlier detection of carriers.

Plauchu H, Dellamonica C, Cotte J, Robert JM.

J Genet Hum. 1980 Dec;28(4):65-82.

PMID:
7205199
14.

[Muscular dystrophies detected by immunophenotyping and genotype analysis (mRNA and DNA)].

Lukás Z, Vojtísková M, Fajkusová L, Bednarík J, Kadanka Z, Hájek J, Hermanová M, Vohánka S, Vytopil M.

Cesk Patol. 2001 Nov;37(4):137-45. Czech.

PMID:
11813630
15.

Dystrophin protein and RFLP analysis for fetal diagnosis and carrier confirmation of Duchenne muscular dystrophy.

Boelter WD, Burt BA, Spector EB, Hinton DR, Pavlova Z, Fujimoto A.

Prenat Diagn. 1990 Nov;10(11):703-15.

PMID:
1980950
16.

Newborn bloodspot screening for Duchenne muscular dystrophy: 21 years experience in Wales (UK).

Moat SJ, Bradley DM, Salmon R, Clarke A, Hartley L.

Eur J Hum Genet. 2013 Oct;21(10):1049-53. doi: 10.1038/ejhg.2012.301. Epub 2013 Jan 23.

17.

[Neonatal screening for duchenne myopathy by serum elevation of creatine phosphokinase activity. 5 years experience].

Plauchu H, Dellamonica C, Pascal B, Jolivet MJ, Guibaud P, Cotte J, Robert JM.

J Genet Hum. 1981 Mar;29(1):59-69. French.

PMID:
7334342
18.

Single-blind study of dystrophin staining in carriers of Duchenne muscular dystrophy.

Bernier FP, Greenberg CR, Halliday WC, Wrogemann K.

Can J Neurol Sci. 1993 Feb;20(1):44-7.

PMID:
8467428
19.

The incidence of Duchenne muscular dystrophy in eastern Austria. The controversy regarding CK screening.

Hauser E, Toifl K, Mad A, Bittner R.

Wien Klin Wochenschr. 1993;105(15):433-6.

PMID:
8104369
20.

Report on a patient with congenital muscular dystrophy, hydrocephalus, Dandy-Walker malformation and leukodystrophy.

Di Rocco M, Leveratto L, Cama A, Bado M, Tortori Donati P, Andreussi L, Borrone C.

Genet Couns. 1993;4(4):295-8.

PMID:
8110418

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