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Results: 1 to 20 of 33

1.

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion.

Potocki L, Chen KS, Park SS, Osterholm DE, Withers MA, Kimonis V, Summers AM, Meschino WS, Anyane-Yeboa K, Kashork CD, Shaffer LG, Lupski JR.

Nat Genet. 2000 Jan;24(1):84-7.

PMID:
10615134
[PubMed - indexed for MEDLINE]
2.

Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications.

Yatsenko SA, Treadwell-Deering D, Krull K, Lewis RA, Glaze D, Stankiewicz P, Lupski JR, Potocki L.

Am J Med Genet A. 2005 Oct 1;138A(2):175-80. Review.

PMID:
16152635
[PubMed - indexed for MEDLINE]
3.

Molecular mechanisms for CMT1A duplication and HNPP deletion.

Boerkoel CF, Inoue K, Reiter LT, Warner LE, Lupski JR.

Ann N Y Acad Sci. 1999 Sep 14;883:22-35. Review.

PMID:
10586226
[PubMed - indexed for MEDLINE]
4.

Overview of hereditary neuropathy with liability to pressure palsies.

Chance PF.

Ann N Y Acad Sci. 1999 Sep 14;883:14-21. Review.

PMID:
10586225
[PubMed - indexed for MEDLINE]
5.

Genetic evaluation of inherited motor/sensory neuropathy.

Chance PF.

Suppl Clin Neurophysiol. 2004;57:228-42. Review.

PMID:
16106622
[PubMed - indexed for MEDLINE]
6.

Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2).

Smith AC, Dykens E, Greenberg F.

Am J Med Genet. 1998 Mar 28;81(2):179-85. Review.

PMID:
9613859
[PubMed - indexed for MEDLINE]
7.

Genomic and clinical characteristics of microduplications in chromosome 17.

Shchelochkov OA, Cheung SW, Lupski JR.

Am J Med Genet A. 2010 May;152A(5):1101-10. doi: 10.1002/ajmg.a.33248. Review.

PMID:
20425816
[PubMed - indexed for MEDLINE]
8.

Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases.

Moncla A, Livet MO, Auger M, Mattei JF, Mattei MG, Giraud F.

J Med Genet. 1991 Sep;28(9):627-32. Review.

PMID:
1956064
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Molecular basis of hereditary neuropathies.

Chance PF.

Phys Med Rehabil Clin N Am. 2001 May;12(2):277-91. Review.

PMID:
11345007
[PubMed - indexed for MEDLINE]
10.

[New chromosomal syndromes].

Schluth-Bolard C, Till M, Edery P, Sanlaville D.

Pathol Biol (Paris). 2008 Sep;56(6):380-7. doi: 10.1016/j.patbio.2008.03.006. Epub 2008 May 7. Review. French.

PMID:
18467039
[PubMed - indexed for MEDLINE]
11.

Inherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy.

Chance PF.

Neuromolecular Med. 2006;8(1-2):159-74. Review.

PMID:
16775374
[PubMed - indexed for MEDLINE]
12.

Molecular characterization of a new patient with a non-recurrent inv dup del 2q and review of the mechanisms for this rearrangement.

Vera-Carbonell A, López-Expósito I, Bafalliu JA, Ballesta-Martínez M, Glóver G, Llópis C, Moya-Quiles R, Suela J, Fernández A, Guillén-Navarro E.

Am J Med Genet A. 2010 Oct;152A(10):2670-80. doi: 10.1002/ajmg.a.33613. Review.

PMID:
20799321
[PubMed - indexed for MEDLINE]
13.

Interchromosomal insertions. Identification of five cases and a review.

Van Hemel JO, Eussen HJ.

Hum Genet. 2000 Nov;107(5):415-32. Review.

PMID:
11140939
[PubMed - indexed for MEDLINE]
14.

Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2).

Gropman AL, Duncan WC, Smith AC.

Pediatr Neurol. 2006 May;34(5):337-50. Review.

PMID:
16647992
[PubMed - indexed for MEDLINE]
15.

Smith-Magenis syndrome.

Elsea SH, Girirajan S.

Eur J Hum Genet. 2008 Apr;16(4):412-21. doi: 10.1038/sj.ejhg.5202009. Epub 2008 Jan 30. Review.

PMID:
18231123
[PubMed - indexed for MEDLINE]
Free Article
16.

The neuropsychiatry and multisystem features of the Smith-Magenis syndrome: a review.

Shelley BP, Robertson MM.

J Neuropsychiatry Clin Neurosci. 2005 Winter;17(1):91-7. Review.

PMID:
15746488
[PubMed - indexed for MEDLINE]
17.

Constitutional interstitial deletion of 17(p11.2) (Smith-Magenis syndrome): a clinically recognizable microdeletion syndrome. Report of two cases and review of the literature.

Fischer H, Oswald HP, Duba HC, Doczy L, Simma B, Utermann G, Haas OA.

Klin Padiatr. 1993 May-Jun;205(3):162-6. Review.

PMID:
8350589
[PubMed - indexed for MEDLINE]
18.

Ophthalmic manifestations of Smith-Magenis syndrome.

Chen RM, Lupski JR, Greenberg F, Lewis RA.

Ophthalmology. 1996 Jul;103(7):1084-91. Review.

PMID:
8684798
[PubMed - indexed for MEDLINE]
19.

Rare interstitial deletion (2)(p11.2p13) in a child with pericentric inversion (2)(p11.2q13) of paternal origin.

Lacbawan FL, White BJ, Anguiano A, Rigdon DT, Ball KD, Bromage GB, Yang X, DiFazio MP, Levin SW.

Am J Med Genet. 1999 Nov 19;87(2):139-42. Review.

PMID:
10533028
[PubMed - indexed for MEDLINE]
20.

New developments in Smith-Magenis syndrome (del 17p11.2).

Gropman AL, Elsea S, Duncan WC Jr, Smith AC.

Curr Opin Neurol. 2007 Apr;20(2):125-34. Review.

PMID:
17351481
[PubMed - indexed for MEDLINE]

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