Darilek S - Search Results

1

DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.

Tang HY, Fang P, Ward PA, Schmitt E, Darilek S, Manolidis S, Oghalai JS, Roa BB, Alford RL. Tang HY, et al. Among authors: darilek s. Am J Med Genet A. 2006 Nov 15;140(22):2401-15. doi: 10.1002/ajmg.a.31525. Am J Med Genet A. 2006. PMID: 17041943 Free PMC article.

2

Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization.

Sahoo T, Cheung SW, Ward P, Darilek S, Patel A, del Gaudio D, Kang SH, Lalani SR, Li J, McAdoo S, Burke A, Shaw CA, Stankiewicz P, Chinault AC, Van den Veyver IB, Roa BB, Beaudet AL, Eng CM. Sahoo T, et al. Among authors: darilek s. Genet Med. 2006 Nov;8(11):719-27. doi: 10.1097/01.gim.0000245576.47154.63. Genet Med. 2006. PMID: 17108764 Free article.

3

Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives.

Darilek S, Ward P, Pursley A, Plunkett K, Furman P, Magoulas P, Patel A, Cheung SW, Eng CM. Darilek S, et al. Genet Med. 2008 Jan;10(1):13-8. doi: 10.1097/GIM.0b013e31815f1ddb. Genet Med. 2008. PMID: 18197052 Free article. Review.

4

Infrequency of two deletion mutations at the DFNB1 locus in patients and controls.

Tang HY, Basehore MJ, Blakey GL, Darilek S, Oghalai JS, Roa BB, Fang P, Alford RL. Tang HY, et al. Among authors: darilek s. Am J Med Genet A. 2008 Apr 1;146A(7):934-6. doi: 10.1002/ajmg.a.32207. Am J Med Genet A. 2008. PMID: 18324688 Free PMC article. No abstract available.

5

Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases.

Van den Veyver IB, Patel A, Shaw CA, Pursley AN, Kang SH, Simovich MJ, Ward PA, Darilek S, Johnson A, Neill SE, Bi W, White LD, Eng CM, Lupski JR, Cheung SW, Beaudet AL. Van den Veyver IB, et al. Among authors: darilek s. Prenat Diagn. 2009 Jan;29(1):29-39. doi: 10.1002/pd.2127. Prenat Diagn. 2009. PMID: 19012303 Free PMC article.

6

Basic medical genetics for the otolaryngologist.

Alford RL, Darilek SA. Alford RL, et al. Adv Otorhinolaryngol. 2011;70:10-17. doi: 10.1159/000322465. Epub 2011 Feb 24. Adv Otorhinolaryngol. 2011. PMID: 21358179 Review.

7

DNA sequence analysis and genotype-phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy.

Tang HY, Fang P, Lin JW, Darilek S, Osborne BT, Haymond JA, Manolidis S, Roa BB, Oghalai JS, Alford RL. Tang HY, et al. Among authors: darilek s. BMJ Open. 2015 May 19;5(5):e007506. doi: 10.1136/bmjopen-2014-007506. BMJ Open. 2015. PMID: 25991456 Free PMC article.

8

Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum.

Alkhunaizi E, Shuster S, Shannon P, Siu VM, Darilek S, Mohila CA, Boissel S, Ellezam B, Fallet-Bianco C, Laberge AM, Zandberg J, Injeyan M, Hazrati LN, Hamdan F, Chitayat D. Alkhunaizi E, et al. Among authors: darilek s. Am J Med Genet A. 2019 Mar;179(3):386-396. doi: 10.1002/ajmg.a.61025. Epub 2019 Jan 16. Am J Med Genet A. 2019. PMID: 30652412

9

A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature.

Manor J, Dinu D, Azamian MS, Bi W, Darilek S, Lalani SR. Manor J, et al. Among authors: darilek s. Am J Med Genet A. 2021 Oct;185(10):2903-2912. doi: 10.1002/ajmg.a.62368. Epub 2021 Jun 1. Am J Med Genet A. 2021. PMID: 34061437 Free PMC article.

10

Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO.

Scott DA, Hernandez-Garcia A, Azamian MS, Jordan VK, Kim BJ, Starkovich M, Zhang J, Wong LJ, Darilek SA, Breman AM, Yang Y, Lupski JR, Jiwani AK, Das B, Lalani SR, Iglesias AD, Rosenfeld JA, Xia F. Scott DA, et al. Among authors: darilek sa. J Med Genet. 2017 Jan;54(1):47-53. doi: 10.1136/jmedgenet-2016-104039. Epub 2016 Aug 22. J Med Genet. 2017. PMID: 27550220

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