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Items: 1 to 20 of 30

1.

Intracellular calcium leak due to FKBP12.6 deficiency in mice facilitates the inducibility of atrial fibrillation.

Sood S, Chelu MG, van Oort RJ, Skapura D, Santonastasi M, Dobrev D, Wehrens XH.

Heart Rhythm. 2008 Jul;5(7):1047-54. doi: 10.1016/j.hrthm.2008.03.030. Epub 2008 Mar 27.

2.

Genomic rearrangements and sporadic disease.

Lupski JR.

Nat Genet. 2007 Jul;39(7 Suppl):S43-7. Review.

PMID:
17597781
3.

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases.

Lu X, Shaw CA, Patel A, Li J, Cooper ML, Wells WR, Sullivan CM, Sahoo T, Yatsenko SA, Bacino CA, Stankiewicz P, Ou Z, Chinault AC, Beaudet AL, Lupski JR, Cheung SW, Ward PA.

PLoS One. 2007 Mar 28;2(3):e327.

4.

Whole genome genotyping technologies on the BeadArray platform.

Steemers FJ, Gunderson KL.

Biotechnol J. 2007 Jan;2(1):41-9.

PMID:
17225249
5.

Bmp2 is essential for cardiac cushion epithelial-mesenchymal transition and myocardial patterning.

Ma L, Lu MF, Schwartz RJ, Martin JF.

Development. 2005 Dec;132(24):5601-11.

6.

Alk3/Bmpr1a receptor is required for development of the atrioventricular canal into valves and annulus fibrosus.

Gaussin V, Morley GE, Cox L, Zwijsen A, Vance KM, Emile L, Tian Y, Liu J, Hong C, Myers D, Conway SJ, Depre C, Mishina Y, Behringer RR, Hanks MC, Schneider MD, Huylebroeck D, Fishman GI, Burch JB, Vatner SF.

Circ Res. 2005 Aug 5;97(3):219-26. Epub 2005 Jul 21.

7.

Development and validation of a CGH microarray for clinical cytogenetic diagnosis.

Cheung SW, Shaw CA, Yu W, Li J, Ou Z, Patel A, Yatsenko SA, Cooper ML, Furman P, Stankiewicz P, Lupski JR, Chinault AC, Beaudet AL.

Genet Med. 2005 Jul-Aug;7(6):422-32. Erratum in: Genet Med. 2005 Sep;7(7):478. Stankiewicz, Pawal [corrected to Stankiewicz, Pawel].

PMID:
16024975
8.

Increased vulnerability to atrial fibrillation in transgenic mice with selective atrial fibrosis caused by overexpression of TGF-beta1.

Verheule S, Sato T, Everett T 4th, Engle SK, Otten D, Rubart-von der Lohe M, Nakajima HO, Nakajima H, Field LJ, Olgin JE.

Circ Res. 2004 Jun 11;94(11):1458-65. Epub 2004 Apr 29.

9.

Ventriculo-right atrial communication; diagnosis by clinical, hemodynamic and angiographic methods.

BRAUNWALD E, MORROW AG.

Am J Med. 1960 Jun;28:913-20. No abstract available.

PMID:
13804038
10.

Analysis of the electrocardiograms obtained from 1000 young healthy aviators; ten year follow-up.

PACKARD JM, GRAETTINGER JS, GRAYBIEL A.

Circulation. 1954 Sep;10(3):384-400. No abstract available.

PMID:
13190611
11.

Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy.

Arad M, Moskowitz IP, Patel VV, Ahmad F, Perez-Atayde AR, Sawyer DB, Walter M, Li GH, Burgon PG, Maguire CT, Stapleton D, Schmitt JP, Guo XX, Pizard A, Kupershmidt S, Roden DM, Berul CI, Seidman CE, Seidman JG.

Circulation. 2003 Jun 10;107(22):2850-6. Epub 2003 Jun 2.

12.

High-resolution comparative genomic hybridisation yields a high detection rate of chromosomal aberrations in childhood acute lymphoblastic leukaemia.

Kristensen TD, Wesenberg F, Jonsson OG, Carlsen NT, Forestier E, Kirchhoff M, Lundsteen C, Schmiegelow K.

Eur J Haematol. 2003 Jun;70(6):363-72.

PMID:
12756018
13.

Identification of a gene responsible for familial Wolff-Parkinson-White syndrome.

Gollob MH, Green MS, Tang AS, Gollob T, Karibe A, Ali Hassan AS, Ahmad F, Lozado R, Shah G, Fananapazir L, Bachinski LL, Roberts R.

N Engl J Med. 2001 Jun 14;344(24):1823-31. Erratum in: N Engl J Med 2001 Aug 16;345(7):552. Hassan AS [corrected to Ali Hassan AS]. N Engl J Med 2002 Jan 24;346(4):300.

14.

Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis.

Blair E, Redwood C, Ashrafian H, Oliveira M, Broxholme J, Kerr B, Salmon A, Ostman-Smith I, Watkins H.

Hum Mol Genet. 2001 May 15;10(11):1215-20.

PMID:
11371514
16.
17.

Mutations in the human Jagged1 gene are responsible for Alagille syndrome.

Oda T, Elkahloun AG, Pike BL, Okajima K, Krantz ID, Genin A, Piccoli DA, Meltzer PS, Spinner NB, Collins FS, Chandrasekharappa SC.

Nat Genet. 1997 Jul;16(3):235-42.

PMID:
9207787
18.

High incidence of pre-excitation syndrome in Japanese families with Leber's hereditary optic neuropathy.

Mashima Y, Kigasawa K, Hasegawa H, Tani M, Oguchi Y.

Clin Genet. 1996 Dec;50(6):535-7.

PMID:
9147893
19.
20.

Alagille syndrome today.

Alagille D.

Clin Invest Med. 1996 Oct;19(5):325-30. Review.

PMID:
8889270

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