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Items: 1 to 20 of 209

1.

Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype.

Prasad C, Prasad AN, Chodirker BN, Lee C, Dawson AK, Jocelyn LJ, Chudley AE.

Clin Genet. 2000 Feb;57(2):103-9.

PMID:
10735630
2.

Deletion 22q13.3 syndrome.

Phelan MC.

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

3.

Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum.

Manning MA, Cassidy SB, Clericuzio C, Cherry AM, Schwartz S, Hudgins L, Enns GM, Hoyme HE.

Pediatrics. 2004 Aug;114(2):451-7.

PMID:
15286229
4.

22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delay.

Cusmano-Ozog K, Manning MA, Hoyme HE.

Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):393-8. Review.

PMID:
17926345
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.

Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome.

Zollino M, Di Stefano C, Zampino G, Mastroiacovo P, Wright TJ, Sorge G, Selicorni A, Tenconi R, Zappalà A, Battaglia A, Di Rocco M, Palka G, Pallotta R, Altherr MR, Neri G.

Am J Med Genet. 2000 Sep 18;94(3):254-61.

PMID:
10995514
7.

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
9.

Neurobehavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood.

Philippe A, Boddaert N, Vaivre-Douret L, Robel L, Danon-Boileau L, Malan V, de Blois MC, Heron D, Colleaux L, Golse B, Zilbovicius M, Munnich A.

Pediatrics. 2008 Aug;122(2):e376-82. doi: 10.1542/peds.2007-2584. Epub 2008 Jul 14.

PMID:
18625665
10.

Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.

Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Brailey LL, Zuberi SM, Carey JC.

Pediatrics. 2008 Feb;121(2):404-10. doi: 10.1542/peds.2007-0929. Erratum in: Pediatrics. 2008 May;121(5):1081. Braley, Lisa L [corrected to Brailey, Lisa L].

PMID:
18245432
11.

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
12.

Deletion mapping by FISH with BACs in patients with partial monosomy 22q13.

Schröder K, Schuffenhauer S, Seidel H, Bartsch O, Blin N, Hinkel GK, Schmitt H.

Hum Genet. 1998 May;102(5):557-61.

PMID:
9654204
13.

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
14.

Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation.

Koolen DA, Reardon W, Rosser EM, Lacombe D, Hurst JA, Law CJ, Bongers EM, van Ravenswaaij-Arts CM, Leisink MA, van Kessel AG, Veltman JA, de Vries BB.

Eur J Hum Genet. 2005 Sep;13(9):1019-24.

15.

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
16.
17.
18.

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
19.

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.

20.

22q13 deletion syndrome with central diabetes insipidus: a previously unreported association.

Barakat AJ, Pearl PL, Acosta MT, Runkle BP.

Clin Dysmorphol. 2004 Jul;13(3):191-4.

PMID:
15194959

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