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Results: 13

1.

Myoclonus in a patient with a deletion of the epsilon-sarcoglycan locus on chromosome 7q21.

DeBerardinis RJ, Conforto D, Russell K, Kaplan J, Kollros PR, Zackai EH, Emanuel BS.

Am J Med Genet A. 2003 Aug 15;121A(1):31-6.

PMID:
12900898
[PubMed - indexed for MEDLINE]
2.

An interstitial deletion of chromosome 7 at band q21: a case report and review.

Courtens W, Vermeulen S, Wuyts W, Messiaen L, Wauters J, Nuytinck L, Peeters N, Storm K, Speleman F, Nöthen MM.

Am J Med Genet A. 2005 Apr 1;134A(1):12-23. Review.

PMID:
15732063
[PubMed - indexed for MEDLINE]
3.

Myoclonus-dystonia syndrome.

Nardocci N.

Handb Clin Neurol. 2011;100:563-75. doi: 10.1016/B978-0-444-52014-2.00041-0. Review.

PMID:
21496608
[PubMed - indexed for MEDLINE]
4.

[Myoclonic dystonia].

Cassim F.

Rev Neurol (Paris). 2003 Oct;159(10 Pt 1):892-9. Review. French.

PMID:
14615678
[PubMed - indexed for MEDLINE]
5.

Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: clinical report and review of the literature.

de Ru MH, Gille JJ, Nieuwint AW, Bijlsma JB, van der Blij JF, van Hagen JM.

Am J Med Genet A. 2005 Aug 15;137(1):81-7. Review.

PMID:
16015581
[PubMed - indexed for MEDLINE]
6.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

Pediatrics. 2004 May;113(5):e472-86. Review.

PMID:
15121991
[PubMed - indexed for MEDLINE]
7.

The chromosome 9q subtelomere deletion syndrome.

Stewart DR, Kleefstra T.

Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):383-92. Review.

PMID:
17910072
[PubMed - indexed for MEDLINE]
8.

Chromosome 5q subtelomeric deletion syndrome.

Rauch A, Dörr HG.

Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):372-6. Review.

PMID:
17910075
[PubMed - indexed for MEDLINE]
9.

Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2).

Potocki L, Shaffer LG.

Am J Med Genet. 1996 Mar 29;62(3):319-25. Review.

PMID:
8882796
[PubMed - indexed for MEDLINE]
10.

Gorlin syndrome patient with large deletion in 9q22.32-q22.33 detected by quantitative multiplex fluorescent PCR.

Musani V, Cretnik M, Situm M, Basta-Juzbasic A, Levanat S.

Dermatology. 2009;219(2):111-8. doi: 10.1159/000219247. Epub 2009 May 14. Review.

PMID:
19439922
[PubMed - indexed for MEDLINE]
11.
12.

Essential myoclonus and myoclonic dystonia.

Quinn NP.

Mov Disord. 1996 Mar;11(2):119-24. Review.

PMID:
8684380
[PubMed - indexed for MEDLINE]
13.

Inherited myoclonus-dystonia.

Saunders-Pullman R, Ozelius L, Bressman SB.

Adv Neurol. 2002;89:185-91. Review. No abstract available.

PMID:
11968443
[PubMed - indexed for MEDLINE]

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