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Items: 10

1.

Delineation of a less than 200 kb minimal deleted region for cardiac malformations on chromosome 7p22.

Richards EG, Zaveri HP, Wolf VL, Kang SH, Scott DA.

Am J Med Genet A. 2011 Jul;155A(7):1729-34. doi: 10.1002/ajmg.a.34041. Epub 2011 Jun 10.

PMID:
21671376
2.

13q13.1-q13.2 deletion in tetralogy of Fallot: clinical report and a literature review.

Costain G, Silversides CK, Marshall CR, Shago M, Costain N, Bassett AS.

Int J Cardiol. 2011 Jan 21;146(2):134-9. doi: 10.1016/j.ijcard.2010.05.070. Epub 2010 Jul 3. Review.

3.

Delineation of the proximal 3q microdeletion syndrome.

Simovich MJ, Bland SD, Peiffer DA, Gunderson KL, Cheung SW, Yatsenko SA, Shinawi M.

Am J Med Genet A. 2008 Jul 1;146A(13):1729-35. doi: 10.1002/ajmg.a.32292. Review.

PMID:
18536049
4.

Further delineation of interstitial chromosome 6 deletion syndrome and review of the literature.

Zherebtsov MM, Klein RT, Aviv H, Toruner GA, Hanna NN, Brooks SS.

Clin Dysmorphol. 2007 Jul;16(3):135-40. Review.

PMID:
17551325
5.

7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature.

Caselli R, Ballarati L, Vignoli A, Peron A, Recalcati MP, Catusi I, Larizza L, Giardino D.

Eur J Med Genet. 2015 Nov;58(11):578-83. doi: 10.1016/j.ejmg.2015.08.003. Epub 2015 Aug 19. Review.

PMID:
26297194
6.

Interstitial deletion of the long arm of chromosome 5 in a boy with multiple congenital anomalies and mental retardation: Molecular characterization of the deleted region to 5q22.3q23.3.

Garcia-Miñaur S, Ramsay J, Grace E, Minns RA, Myles LM, FitzPatrick DR.

Am J Med Genet A. 2005 Feb 1;132A(4):402-10. Review.

PMID:
15742475
7.

Molecular characterization of a novel, de novo, cryptic interstitial deletion on 19p13.3 in a child with a cutis aplasia and multiple congenital anomalies.

Al-Kateb H, Hahn A, Gastier-Foster JM, Jeng L, McCandless SE, Curtis CA.

Am J Med Genet A. 2010 Dec;152A(12):3148-53. doi: 10.1002/ajmg.a.33738. Review.

PMID:
21108400
8.

Molecular characterization of partial trisomy 16q24.1-qter: clinical report and review of the literature.

Brisset S, Joly G, Ozilou C, Lapierre JM, Gosset P, LeLorc'h M, Raoul O, Turleau C, Vekemans M, Romana SP.

Am J Med Genet. 2002 Dec 15;113(4):339-45. Review.

PMID:
12457405
9.

12q24.33 deletion: report of a patient with intellectual disability and review of the literature.

Kehrer M, Singer S, Grasshoff U, Schäferhoff K, Bonin M, Riess O, Schöning M, Tzschach A.

Am J Med Genet A. 2013 Jun;161A(6):1409-13. doi: 10.1002/ajmg.a.35877. Epub 2013 Apr 23. Review.

PMID:
23613162
10.

Aortic arch anomalies associated with chromosome 22q11 deletion (CATCH 22).

Momma K, Matsuoka R, Takao A.

Pediatr Cardiol. 1999 Mar-Apr;20(2):97-102. Review.

PMID:
9986884

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