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Items: 1 to 20 of 205

1.

Molecular and phenotypic characterization of ring chromosome 22.

Jeffries AR, Curran S, Elmslie F, Sharma A, Wenger S, Hummel M, Powell J.

Am J Med Genet A. 2005 Aug 30;137(2):139-47.

PMID:
16059935
2.

Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms.

Wilson HL, Wong AC, Shaw SR, Tse WY, Stapleton GA, Phelan MC, Hu S, Marshall J, McDermid HE.

J Med Genet. 2003 Aug;40(8):575-84.

3.

Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome).

Sarasua SM, Dwivedi A, Boccuto L, Rollins JD, Chen CF, Rogers RC, Phelan K, DuPont BR, Collins JS.

J Med Genet. 2011 Nov;48(11):761-6. doi: 10.1136/jmedgenet-2011-100225. Epub 2011 Oct 7.

PMID:
21984749
4.

Deletion 22q13.3 syndrome.

Phelan MC.

Orphanet J Rare Dis. 2008 May 27;3:14. doi: 10.1186/1750-1172-3-14.

5.

FISH-mapping of a 100-kb terminal 22q13 deletion.

Anderlid BM, Schoumans J, Annerén G, Tapia-Paez I, Dumanski J, Blennow E, Nordenskjöld M.

Hum Genet. 2002 May;110(5):439-43. Epub 2002 Apr 4.

PMID:
12073014
6.

Supernumerary ring chromosome 8: clinical and molecular cytogenetic characterization in a case report.

Demori E, Devescovi R, Benussi DG, Dolce S, Carrozzi M, Villa N, Miertus J, Amoroso A, Pecile V.

Am J Med Genet A. 2004 Oct 15;130A(3):288-94. Review.

PMID:
15378554
7.

22q13 deletion syndrome.

Phelan MC, Rogers RC, Saul RA, Stapleton GA, Sweet K, McDermid H, Shaw SR, Claytor J, Willis J, Kelly DP.

Am J Med Genet. 2001 Jun 15;101(2):91-9.

PMID:
11391650
8.

Distinct 15q genotypes in Russell-Silver and ring 15 syndromes.

Rogan PK, Seip JR, Driscoll DJ, Papenhausen PR, Johnson VP, Raskin S, Woodward AL, Butler MG.

Am J Med Genet. 1996 Mar 1;62(1):10-5.

PMID:
8779316
9.

Characterization of the phenotype and definition of the deletion in a new patient with ring chromosome 22.

Battini R, Battaglia A, Bertini V, Cioni G, Parrini B, Rapalini E, Simi P, Tinelli F, Valetto A.

Am J Med Genet A. 2004 Oct 1;130A(2):196-9.

PMID:
15372517
10.

Ring chromosome 22 and autism: report and review.

MacLean JE, Teshima IE, Szatmari P, Nowaczyk MJ.

Am J Med Genet. 2000 Feb 28;90(5):382-5.

PMID:
10706359
11.

Ring chromosome 4 in a patient with early onset type 2 diabetes, deafness, and developmental delay.

Blackett PR, Li S, Mulvihill JJ.

Am J Med Genet A. 2005 Aug 30;137(2):213-6.

PMID:
16082703
12.

Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3.

Delahaye A, Toutain A, Aboura A, Dupont C, Tabet AC, Benzacken B, Elion J, Verloes A, Pipiras E, Drunat S.

Eur J Med Genet. 2009 Sep-Oct;52(5):328-32. doi: 10.1016/j.ejmg.2009.05.004. Epub 2009 May 18.

PMID:
19454329
13.

Mild ring 17 syndrome shares common phenotypic features irrespective of the chromosomal breakpoints location.

Surace C, Piazzolla S, Sirleto P, Digilio MC, Roberti MC, Lombardo A, D'Elia G, Tomaiuolo AC, Petrocchi S, Capolino R, El Hachem M, Claps Sepulveda D, Sgura A, Angioni A.

Clin Genet. 2009 Sep;76(3):256-62. doi: 10.1111/j.1399-0004.2009.01203.x.

PMID:
19793054
14.

Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers.

Chocholska S, Rossier E, Barbi G, Kehrer-Sawatzki H.

Am J Med Genet A. 2006 Mar 15;140(6):604-10.

PMID:
16470742
15.

Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients.

Tümer Z, Harboe TL, Blennow E, Kalscheuer VM, Tommerup N, Brøndum-Nielsen K.

Am J Med Genet A. 2004 Nov 1;130A(4):340-4.

PMID:
15384084
16.

No evidence for submicroscopic 22qter deletions in patients with features suggestive for Angelman syndrome.

de Vries BB, Tyson J, Winter RM, Malcolm S.

Am J Med Genet. 2002 Apr 22;109(2):117-20.

PMID:
11977159
17.

Five new subjects with ring chromosome 22.

Ishmael HA, Cataldi D, Begleiter ML, Pasztor LM, Dasouki MJ, Butler MG.

Clin Genet. 2003 May;63(5):410-4.

PMID:
12752574
18.
19.

Further delineation of the 22q13 deletion syndrome.

Lindquist SG, Kirchhoff M, Lundsteen C, Pedersen W, Erichsen G, Kristensen K, Lillquist K, Smedegaard HH, Skov L, Tommerup N, Brøndum-Nielsen K.

Clin Dysmorphol. 2005 Apr;14(2):55-60.

PMID:
15770125
20.

Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development.

Wilson HL, Crolla JA, Walker D, Artifoni L, Dallapiccola B, Takano T, Vasudevan P, Huang S, Maloney V, Yobb T, Quarrell O, McDermid HE.

Eur J Hum Genet. 2008 Nov;16(11):1301-10. doi: 10.1038/ejhg.2008.107. Epub 2008 Jun 4.

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