Saitta S - Search Results

1

Monosomy 1p36 uncovers a role for OX40 in survival of activated CD4+ T cells.

Suhoski MM, Perez EE, Heltzer ML, Laney A, Shaffer LG, Saitta S, Nachman S, Spinner NB, June CH, Orange JS. Suhoski MM, et al. Among authors: saitta s. Clin Immunol. 2008 Aug;128(2):181-9. doi: 10.1016/j.clim.2008.03.522. Epub 2008 Jun 3. Clin Immunol. 2008. PMID: 18511345 Free PMC article.

2

Recurrent interstitial 1p36 deletions: Evidence for germline mosaicism and complex rearrangement breakpoints.

Gajecka M, Saitta SC, Gentles AJ, Campbell L, Ciprero K, Geiger E, Catherwood A, Rosenfeld JA, Shaikh T, Shaffer LG. Gajecka M, et al. Am J Med Genet A. 2010 Dec;152A(12):3074-83. doi: 10.1002/ajmg.a.33733. Am J Med Genet A. 2010. PMID: 21108392 Free PMC article.

3

Duplication 12p and Pallister-Killian syndrome: a case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region.

Izumi K, Conlin LK, Berrodin D, Fincher C, Wilkens A, Haldeman-Englert C, Saitta SC, Zackai EH, Spinner NB, Krantz ID. Izumi K, et al. Am J Med Genet A. 2012 Dec;158A(12):3033-45. doi: 10.1002/ajmg.a.35500. Epub 2012 Nov 20. Am J Med Genet A. 2012. PMID: 23169682

4

Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy.

Kalish JM, Conlin LK, Bhatti TR, Dubbs HA, Harris MC, Izumi K, Mostoufi-Moab S, Mulchandani S, Saitta S, States LJ, Swarr DT, Wilkens AB, Zackai EH, Zelley K, Bartolomei MS, Nichols KE, Palladino AA, Spinner NB, Deardorff MA. Kalish JM, et al. Among authors: saitta s. Am J Med Genet A. 2013 Aug;161A(8):1929-39. doi: 10.1002/ajmg.a.36045. Epub 2013 Jun 26. Am J Med Genet A. 2013. PMID: 23804593 Free PMC article.

5

Intracytoplasmic sperm injection (ICSI) with transmission of a ring(Y) chromosome and ovotesticular disorder of sex development in offspring.

Spinner NB, Saitta SC, Delaney DP, Colliton R, Zderic SA, Ruchelli E, Zackai E, Kolon TF. Spinner NB, et al. Am J Med Genet A. 2008 Jul 15;146A(14):1828-31. doi: 10.1002/ajmg.a.32358. Am J Med Genet A. 2008. PMID: 18553511

6

Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH.

Adams SA, Coppinger J, Saitta SC, Stroud T, Kandamurugu M, Fan Z, Ballif BC, Shaffer LG, Bejjani BA. Adams SA, et al. Genet Med. 2009 May;11(5):314-22. doi: 10.1097/GIM.0b013e3181a028a5. Genet Med. 2009. PMID: 19365269 Free article.

7

The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.

Shaffer LG, Theisen A, Bejjani BA, Ballif BC, Aylsworth AS, Lim C, McDonald M, Ellison JW, Kostiner D, Saitta S, Shaikh T. Shaffer LG, et al. Among authors: saitta s. Genet Med. 2007 Sep;9(9):607-16. doi: 10.1097/gim.0b013e3181484b49. Genet Med. 2007. PMID: 17873649 Free article. Review.

8

Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene.

Baris H, Bejjani BA, Tan WH, Coulter DL, Martin JA, Storm AL, Burton BK, Saitta SC, Gajecka M, Ballif BC, Irons MB, Shaffer LG, Kimonis VE. Baris H, et al. Am J Med Genet A. 2006 Sep 1;140A(17):1876-9. doi: 10.1002/ajmg.a.31390. Am J Med Genet A. 2006. PMID: 16892302 No abstract available.

9

Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region.

Coppinger J, McDonald-McGinn D, Zackai E, Shane K, Atkin JF, Asamoah A, Leland R, Weaver DD, Lansky-Shafer S, Schmidt K, Feldman H, Cohen W, Phalin J, Powell B, Ballif BC, Theisen A, Geiger E, Haldeman-Englert C, Shaikh TH, Saitta S, Bejjani BA, Shaffer LG. Coppinger J, et al. Among authors: saitta s. Hum Mol Genet. 2009 Apr 15;18(8):1377-83. doi: 10.1093/hmg/ddp042. Epub 2009 Feb 3. Hum Mol Genet. 2009. PMID: 19193630 Free PMC article.

10

The 22q11.2 deletion syndrome.

Emanuel BS, McDonald-McGinn D, Saitta SC, Zackai EH. Emanuel BS, et al. Among authors: saitta sc. Adv Pediatr. 2001;48:39-73. Adv Pediatr. 2001. PMID: 11480765 Review.

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