Craigen WJ - Search Results

1

Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.

Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG, Thaller C, Peterson LE, McPherson JD, Gibbs RA, White LD, Hefner M, Davenport SL, Graham JM, Bacino CA, Glass NL, Towbin JA, Craigen WJ, Neish SR, Lin AE, Belmont JW. Lalani SR, et al. Among authors: craigen wj. Am J Hum Genet. 2006 Feb;78(2):303-14. doi: 10.1086/500273. Epub 2005 Dec 29. Am J Hum Genet. 2006. PMID: 16400610 Free PMC article.

2

Deletion of chromosome 22q11 and pseudohypoparathyroidism.

Craigen WJ, Lindsay EA, Bricker JT, Hawkins EP, Baldini A. Craigen WJ, et al. Am J Med Genet. 1997 Oct 3;72(1):63-5. Am J Med Genet. 1997. PMID: 9295077

3

A submicroscopic deletion in Xq26 associated with familial situs ambiguus.

Ferrero GB, Gebbia M, Pilia G, Witte D, Peier A, Hopkin RJ, Craigen WJ, Shaffer LG, Schlessinger D, Ballabio A, Casey B. Ferrero GB, et al. Among authors: craigen wj. Am J Hum Genet. 1997 Aug;61(2):395-401. doi: 10.1086/514857. Am J Hum Genet. 1997. PMID: 9311745 Free PMC article.

4

Revised fine mapping of the human voltage-dependent anion channel loci by radiation hybrid analysis.

Decker WK, Bowles KR, Schatte EC, Towbin JA, Craigen WJ. Decker WK, et al. Among authors: craigen wj. Mamm Genome. 1999 Oct;10(10):1041-2. doi: 10.1007/s003359901158. Mamm Genome. 1999. PMID: 10501981 No abstract available.

5

Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion.

Blagitko N, Mergenthaler S, Schulz U, Wollmann HA, Craigen W, Eggermann T, Ropers HH, Kalscheuer VM. Blagitko N, et al. Hum Mol Genet. 2000 Jul 1;9(11):1587-95. doi: 10.1093/hmg/9.11.1587. Hum Mol Genet. 2000. PMID: 10861285

6

PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.

Maheshwari M, Belmont J, Fernbach S, Ho T, Molinari L, Yakub I, Yu F, Combes A, Towbin J, Craigen WJ, Gibbs R. Maheshwari M, et al. Among authors: craigen wj. Hum Mutat. 2002 Oct;20(4):298-304. doi: 10.1002/humu.10129. Hum Mutat. 2002. PMID: 12325025

7

Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions.

Lalani SR, Stockton DW, Bacino C, Molinari LM, Glass NL, Fernbach SD, Towbin JA, Craigen WJ, Graham JM Jr, Hefner MA, Lin AE, McBride KL, Davenport SL, Belmont JW. Lalani SR, et al. Among authors: craigen wj. Am J Med Genet A. 2003 Apr 30;118A(3):260-6. doi: 10.1002/ajmg.a.20002. Am J Med Genet A. 2003. PMID: 12673657

8

Clinical characterization of left ventricular noncompaction in children: a relatively common form of cardiomyopathy.

Pignatelli RH, McMahon CJ, Dreyer WJ, Denfield SW, Price J, Belmont JW, Craigen WJ, Wu J, El Said H, Bezold LI, Clunie S, Fernbach S, Bowles NE, Towbin JA. Pignatelli RH, et al. Among authors: craigen wj. Circulation. 2003 Nov 25;108(21):2672-8. doi: 10.1161/01.CIR.0000100664.10777.B8. Epub 2003 Nov 17. Circulation. 2003. PMID: 14623814

9

Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome.

Yatsenko SA, Yatsenko AN, Szigeti K, Craigen WJ, Stankiewicz P, Cheung SW, Lupski JR. Yatsenko SA, et al. Among authors: craigen wj. Clin Genet. 2004 Aug;66(2):128-36. doi: 10.1111/j.1399-0004.2004.00290.x. Clin Genet. 2004. PMID: 15253763

10

Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease.

Scaglia F, Towbin JA, Craigen WJ, Belmont JW, Smith EO, Neish SR, Ware SM, Hunter JV, Fernbach SD, Vladutiu GD, Wong LJ, Vogel H. Scaglia F, et al. Among authors: craigen wj. Pediatrics. 2004 Oct;114(4):925-31. doi: 10.1542/peds.2004-0718. Pediatrics. 2004. PMID: 15466086

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