Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 106

1.

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
[PubMed - indexed for MEDLINE]
2.

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
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

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.

PMID:
21779178
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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
[PubMed - indexed for MEDLINE]
6.

Deletion 22q13.3 syndrome.

Phelan MC.

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

PMID:
18505557
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

[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
[PubMed - indexed for MEDLINE]
8.

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.

PMID:
23225497
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

22q13.3 deletion syndrome: clinical and molecular analysis using array CGH.

Dhar SU, del Gaudio D, German JR, Peters SU, Ou Z, Bader PI, Berg JS, Blazo M, Brown CW, Graham BH, Grebe TA, Lalani S, Irons M, Sparagana S, Williams M, Phillips JA 3rd, Beaudet AL, Stankiewicz P, Patel A, Cheung SW, Sahoo T.

Am J Med Genet A. 2010 Mar;152A(3):573-81. doi: 10.1002/ajmg.a.33253.

PMID:
20186804
[PubMed - indexed for MEDLINE]
Free PMC Article
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
[PubMed - indexed for MEDLINE]
Free Article
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
[PubMed - indexed for MEDLINE]
12.

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.

Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, Probst FJ, Craigen WJ, Graham BH, Pursley A, Clark G, Lee J, Proud M, Stocco A, Rodriguez DL, Kozel BA, Sparagana S, Roeder ER, McGrew SG, Kurczynski TW, Allison LJ, Amato S, Savage S, Patel A, Stankiewicz P, Beaudet AL, Cheung SW, Lupski JR.

J Med Genet. 2010 May;47(5):332-41. doi: 10.1136/jmg.2009.073015. Epub 2009 Nov 12.

PMID:
19914906
[PubMed - indexed for MEDLINE]
Free PMC Article
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
[PubMed - indexed for MEDLINE]
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.

PMID:
15986041
[PubMed - indexed for MEDLINE]
Free Article
15.

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
[PubMed - in process]
16.

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
[PubMed - indexed for MEDLINE]
17.

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
[PubMed - indexed for MEDLINE]
18.

[Muscular hypotonia, developmental retardation, speech delay and mildly dysmorphic features: 22q13 deletion syndrome (Phelan-McDermid Syndrome) as an important differential diagnosis].

Strenge S, Froster UG, Kujat A, Bernhard M, Merkenschlager A.

Klin Padiatr. 2008 Sep-Oct;220(5):318-20. German.

PMID:
18814345
[PubMed - indexed for MEDLINE]
19.

Phelan-McDermid Syndrome.

Phelan K, Rogers RC.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2005 May 11 [updated 2011 Aug 25].

20.

[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.

PMID:
22760760
[PubMed - indexed for MEDLINE]
Free Article

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk