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Results: 1 to 20 of 118

Similar articles for PubMed (Select 23166010)

1.

Phelan-McDermid syndrome: clinical report of a 70-year-old woman.

Verhoeven WM, Egger JI, Cohen-Snuijf R, Kant SG, de Leeuw N.

Am J Med Genet A. 2013 Jan;161A(1):158-61. doi: 10.1002/ajmg.a.35597. Epub 2012 Nov 19.

PMID:
23166010
2.

[The Phelan-McDermid syndrome (22q13 microdeletion) - case report].

Slezak R, Laczmańska I.

Med Wieku Rozwoj. 2011 Jan-Mar;15(1):96-100. Polish.

PMID:
21786519
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.

22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome.

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

Genet Med. 2014 Apr;16(4):318-28. doi: 10.1038/gim.2013.144. Epub 2013 Oct 17.

PMID:
24136618
5.

Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?

Verhoeven WM, Egger JI, Willemsen MH, de Leijer GJ, Kleefstra T.

Neuropsychiatr Dis Treat. 2012;8:175-9. doi: 10.2147/NDT.S30506. Epub 2012 Apr 19.

6.

A patient with the classic features of Phelan-McDermid syndrome and a high immunoglobulin E level caused by a cryptic interstitial 0.72-Mb deletion in the 22q13.2 region.

Simenson K, Õiglane-Shlik E, Teek R, Kuuse K, Õunap K.

Am J Med Genet A. 2014 Mar;164A(3):806-9. doi: 10.1002/ajmg.a.36358. Epub 2013 Dec 20.

PMID:
24375995
7.

Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome.

Disciglio V, Lo Rizzo C, Mencarelli MA, Mucciolo M, Marozza A, Di Marco C, Massarelli A, Canocchi V, Baldassarri M, Ndoni E, Frullanti E, Amabile S, Anderlid BM, Metcalfe K, Le Caignec C, David A, Fryer A, Boute O, Joris A, Greco D, Pecile V, Battini R, Novelli A, Fichera M, Romano C, Mari F, Renieri A.

Am J Med Genet A. 2014 Jul;164A(7):1666-76. doi: 10.1002/ajmg.a.36513. Epub 2014 Apr 3.

PMID:
24700646
8.

A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism.

Misceo D, Rødningen OK, Barøy T, Sorte H, Mellembakken JR, Strømme P, Fannemel M, Frengen E.

Am J Med Genet A. 2011 Feb;155A(2):403-8. doi: 10.1002/ajmg.a.33798. Epub 2011 Jan 14.

PMID:
21271662
9.

Deletion syndrome 22q13: what the dentist should know to manage children with Phelan-McDermid syndrome effectively.

Ivanoff C, Ivanoff AE.

J Tenn Dent Assoc. 2014 Spring-Summer;94(1):15-8; quiz 19-20.

PMID:
25241497
10.

[Phelan McDermid Syndrome: five patients description and report on the first case described in conjoined twins].

Canonero I, Montes C, Sturich A, Boterón M, Asinari M, Cuestas E, Rossi N.

Arch Argent Pediatr. 2012 May-Jun;110(3):e50-4. doi: 10.1590/S0325-00752012000300015. Spanish.

11.
12.

Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome.

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

Hum Genet. 2014 Jul;133(7):847-59. doi: 10.1007/s00439-014-1423-7. Epub 2014 Jan 31.

PMID:
24481935
13.

Intranasal insulin to improve developmental delay in children with 22q13 deletion syndrome: an exploratory clinical trial.

Schmidt H, Kern W, Giese R, Hallschmid M, Enders A.

J Med Genet. 2009 Apr;46(4):217-22. doi: 10.1136/jmg.2008.062141. Epub 2008 Oct 23.

PMID:
18948358
14.

Deletion 22q13.3 syndrome.

Phelan MC.

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

15.

Deletion of the last exon of SHANK3 gene produces the full Phelan-McDermid phenotype: a case report.

Macedoni-Lukšič M, Krgović D, Zagradišnik B, Kokalj-Vokač N.

Gene. 2013 Jul 25;524(2):386-9. doi: 10.1016/j.gene.2013.03.141. Epub 2013 Apr 21. No abstract available.

PMID:
23612248
16.

Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.

Aldinger KA, Kogan J, Kimonis V, Fernandez B, Horn D, Klopocki E, Chung B, Toutain A, Weksberg R, Millen KJ, Barkovich AJ, Dobyns WB.

Am J Med Genet A. 2013 Jan;161A(1):131-6. doi: 10.1002/ajmg.a.35700. Epub 2012 Dec 7.

17.

A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia.

Montgomery ND, Turcott CM, Tepperberg JH, McDonald MT, Aylsworth AS.

Am J Med Genet A. 2013 Jan;161A(1):198-202. doi: 10.1002/ajmg.a.35671. Epub 2012 Dec 13.

PMID:
23239541
18.

Mitochondrial disease in 22q13 duplication syndrome.

Frye RE.

J Child Neurol. 2012 Jul;27(7):942-9. doi: 10.1177/0883073811429858. Epub 2012 Feb 28.

PMID:
22378673
19.

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.

Bonaglia MC, Giorda R, Beri S, De Agostini C, Novara F, Fichera M, Grillo L, Galesi O, Vetro A, Ciccone R, Bonati MT, Giglio S, Guerrini R, Osimani S, Marelli S, Zucca C, Grasso R, Borgatti R, Mani E, Motta C, Molteni M, Romano C, Greco D, Reitano S, Baroncini A, Lapi E, Cecconi A, Arrigo G, Patricelli MG, Pantaleoni C, D'Arrigo S, Riva D, Sciacca F, Dalla Bernardina B, Zoccante L, Darra F, Termine C, Maserati E, Bigoni S, Priolo E, Bottani A, Gimelli S, Bena F, Brusco A, di Gregorio E, Bagnasco I, Giussani U, Nitsch L, Politi P, Martinez-Frias ML, Martínez-Fernández ML, Martínez Guardia N, Bremer A, Anderlid BM, Zuffardi O.

PLoS Genet. 2011 Jul;7(7):e1002173. doi: 10.1371/journal.pgen.1002173. Epub 2011 Jul 14.

20.

The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome).

Phelan K, McDermid HE.

Mol Syndromol. 2012 Apr;2(3-5):186-201. Epub 2011 Nov 22.

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