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Results: 1 to 20 of 270

1.

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
[PubMed - indexed for MEDLINE]
2.

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.

Kim HG, Kim HT, Leach NT, Lan F, Ullmann R, Silahtaroglu A, Kurth I, Nowka A, Seong IS, Shen Y, Talkowski ME, Ruderfer D, Lee JH, Glotzbach C, Ha K, Kjaergaard S, Levin AV, Romeike BF, Kleefstra T, Bartsch O, Elsea SH, Jabs EW, MacDonald ME, Harris DJ, Quade BJ, Ropers HH, Shaffer LG, Kutsche K, Layman LC, Tommerup N, Kalscheuer VM, Shi Y, Morton CC, Kim CH, Gusella JF.

Am J Hum Genet. 2012 Jul 13;91(1):56-72. doi: 10.1016/j.ajhg.2012.05.005. Epub 2012 Jul 5.

PMID:
22770980
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Potocki-Shaffer syndrome: comprehensive clinical assessment, review of the literature, and proposals for medical management.

Swarr DT, Bloom D, Lewis RA, Elenberg E, Friedman EM, Glotzbach C, Wissman SD, Shaffer LG, Potocki L.

Am J Med Genet A. 2010 Mar;152A(3):565-72. doi: 10.1002/ajmg.a.33245. Review.

PMID:
20140962
[PubMed - indexed for MEDLINE]
4.

Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome.

Wakui K, Gregato G, Ballif BC, Glotzbach CD, Bailey KA, Kuo PL, Sue WC, Sheffield LJ, Irons M, Gomez EG, Hecht JT, Potocki L, Shaffer LG.

Eur J Hum Genet. 2005 May;13(5):528-40.

PMID:
15852040
[PubMed - indexed for MEDLINE]
Free Article
5.

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]
6.

Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion.

Brémond-Gignac D, Crolla JA, Copin H, Guichet A, Bonneau D, Taine L, Lacombe D, Baumann C, Benzacken B, Verloes A.

Eur J Hum Genet. 2005 Apr;13(4):409-13.

PMID:
15702131
[PubMed - indexed for MEDLINE]
Free Article
7.

Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki-Shaffer syndrome.

Chuang L, Wakui K, Sue WC, Su MH, Shaffer LG, Kuo PL.

Am J Med Genet A. 2005 Mar 1;133A(2):180-3.

PMID:
15666301
[PubMed - indexed for MEDLINE]
8.

Molecular characterization of a patient with 3p deletion syndrome and a review of the literature.

Fernandez TV, García-González IJ, Mason CE, Hernández-Zaragoza G, Ledezma-Rodríguez VC, Anguiano-Alvarez VM, E'Vega R, Gutiérrez-Angulo M, Maya ML, García-Bejarano HE, González-Cruz M, Barrios S, Atorga R, López-Cardona MG, Armendariz-Borunda J, State MW, Dávalos NO.

Am J Med Genet A. 2008 Nov 1;146A(21):2746-52. doi: 10.1002/ajmg.a.32533. Review.

PMID:
18837054
[PubMed - indexed for MEDLINE]
9.

[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]
10.

Potocki-Shaffer syndrome: report of one case.

Chien WH, Sue WC, Kuo PL, Su MH, Lin CL.

Acta Paediatr Taiwan. 2003 Jul-Aug;44(4):242-5.

PMID:
14674231
[PubMed - indexed for MEDLINE]
11.

Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature.

Dukes-Rimsky L, Guzauskas GF, Holden KR, Griggs R, Ladd S, Montoya Mdel C, DuPont BR, Srivastava AK.

Am J Med Genet A. 2011 Sep;155A(9):2146-53. doi: 10.1002/ajmg.a.34137. Epub 2011 Aug 10.

PMID:
21834054
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism.

Rocca MS, Faletra F, Devescovi R, Gasparini P, Pecile V.

Eur J Med Genet. 2013 Jan;56(1):62-5. doi: 10.1016/j.ejmg.2012.10.008. Epub 2012 Nov 7.

PMID:
23142270
[PubMed - indexed for MEDLINE]
13.

Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children.

Zahir F, Firth HV, Baross A, Delaney AD, Eydoux P, Gibson WT, Langlois S, Martin H, Willatt L, Marra MA, Friedman JM.

J Med Genet. 2007 Sep;44(9):556-61. Epub 2007 Jun 1.

PMID:
17545556
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Proximal chromosome 11p contiguous gene deletion syndrome phenotype: case report and review of the literature.

Romeike BF, Wuyts W.

Clin Neuropathol. 2007 Jan-Feb;26(1):1-11. Review.

PMID:
17290930
[PubMed - indexed for MEDLINE]
15.

11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity.

Shinawi M, Sahoo T, Maranda B, Skinner SA, Skinner C, Chinault C, Zascavage R, Peters SU, Patel A, Stevenson RE, Beaudet AL.

Am J Med Genet A. 2011 Jun;155A(6):1272-80. doi: 10.1002/ajmg.a.33878. Epub 2011 May 12.

PMID:
21567907
[PubMed - indexed for MEDLINE]
16.

[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]
17.

Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome.

Wu YQ, Badano JL, McCaskill C, Vogel H, Potocki L, Shaffer LG.

Am J Hum Genet. 2000 Nov;67(5):1327-32. Epub 2000 Oct 3.

PMID:
11017806
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome.

Fernandez T, Morgan T, Davis N, Klin A, Morris A, Farhi A, Lifton RP, State MW.

Am J Hum Genet. 2004 Jun;74(6):1286-93. Epub 2004 Apr 21.

PMID:
15106122
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Five patients with novel overlapping interstitial deletions in 8q22.2q22.3.

Kuechler A, Buysse K, Clayton-Smith J, Le Caignec C, David A, Engels H, Kohlhase J, Mari F, Mortier G, Renieri A, Wieczorek D.

Am J Med Genet A. 2011 Aug;155A(8):1857-64. doi: 10.1002/ajmg.a.34072. Epub 2011 Jul 7.

PMID:
21739578
[PubMed - indexed for MEDLINE]
20.

Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype.

Swinkels ME, Simons A, Smeets DF, Vissers LE, Veltman JA, Pfundt R, de Vries BB, Faas BH, Schrander-Stumpel CT, McCann E, Sweeney E, May P, Draaisma JM, Knoers NV, van Kessel AG, van Ravenswaaij-Arts CM.

Am J Med Genet A. 2008 Jun 1;146A(11):1430-8. doi: 10.1002/ajmg.a.32310.

PMID:
18452192
[PubMed - indexed for MEDLINE]

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