Kimonis V - Search Results

1

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion.

Potocki L, Chen KS, Park SS, Osterholm DE, Withers MA, Kimonis V, Summers AM, Meschino WS, Anyane-Yeboa K, Kashork CD, Shaffer LG, Lupski JR. Potocki L, et al. Among authors: kimonis v. Nat Genet. 2000 Jan;24(1):84-7. doi: 10.1038/71743. Nat Genet. 2000. PMID: 10615134 Free article.

2

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein.

Watts GD, Wymer J, Kovach MJ, Mehta SG, Mumm S, Darvish D, Pestronk A, Whyte MP, Kimonis VE. Watts GD, et al. Nat Genet. 2004 Apr;36(4):377-81. doi: 10.1038/ng1332. Epub 2004 Mar 21. Nat Genet. 2004. PMID: 15034582 Free article.

3

Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome.

Kantarci S, Casavant D, Prada C, Russell M, Byrne J, Haug LW, Jennings R, Manning S, Boyd TK, Fryns JP, Holmes LB, Donahoe PK, Lee C, Kimonis V, Pober BR. Kantarci S, et al. Among authors: kimonis v. Am J Med Genet A. 2006 Jan 1;140(1):17-23. doi: 10.1002/ajmg.a.31025. Am J Med Genet A. 2006. PMID: 16333846 Free PMC article.

4

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 Free article. No abstract available.

5

Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations.

Sahoo T, Bacino CA, German JR, Shaw CA, Bird LM, Kimonis V, Anselm I, Waisbren S, Beaudet AL, Peters SU. Sahoo T, et al. Among authors: kimonis v. Eur J Hum Genet. 2007 Sep;15(9):943-9. doi: 10.1038/sj.ejhg.5201859. Epub 2007 May 23. Eur J Hum Genet. 2007. PMID: 17522620 Free article.

6

Diagnostic utility of array-based comparative genomic hybridization in a clinical setting.

Baris HN, Tan WH, Kimonis VE, Irons MB. Baris HN, et al. Am J Med Genet A. 2007 Nov 1;143A(21):2523-33. doi: 10.1002/ajmg.a.31988. Am J Med Genet A. 2007. PMID: 17910064 Free article.

7

NR2F1 deletion in a patient with a de novo paracentric inversion, inv(5)(q15q33.2), and syndromic deafness.

Brown KK, Alkuraya FS, Matos M, Robertson RL, Kimonis VE, Morton CC. Brown KK, et al. Am J Med Genet A. 2009 May;149A(5):931-8. doi: 10.1002/ajmg.a.32764. Am J Med Genet A. 2009. PMID: 19353646 Free PMC article.

8

Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review.

El-Hattab AW, Schaaf CP, Fang P, Roeder E, Kimonis VE, Church JA, Patel A, Cheung SW. El-Hattab AW, et al. BMC Med Genet. 2015 Mar 14;16:12. doi: 10.1186/s12881-015-0157-2. BMC Med Genet. 2015. PMID: 25927380 Free PMC article.

9

DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.

White JJ, Mazzeu JF, Hoischen A, Bayram Y, Withers M, Gezdirici A, Kimonis V, Steehouwer M, Jhangiani SN, Muzny DM, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics; van Bon BWM, Sutton VR, Lupski JR, Brunner HG, Carvalho CMB. White JJ, et al. Among authors: kimonis v. Am J Hum Genet. 2016 Mar 3;98(3):553-561. doi: 10.1016/j.ajhg.2016.01.005. Epub 2016 Feb 25. Am J Hum Genet. 2016. PMID: 26924530 Free PMC article.

10

A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.

Kovach MJ, Lin JP, Boyadjiev S, Campbell K, Mazzeo L, Herman K, Rimer LA, Frank W, Llewellyn B, Jabs EW, Gelber D, Kimonis VE. Kovach MJ, et al. Among authors: kimonis ve. Am J Hum Genet. 1999 Jun;64(6):1580-93. doi: 10.1086/302420. Am J Hum Genet. 1999. PMID: 10330345 Free PMC article.

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