PubMed (Bookshelf cited) for id: 393913

Year	Number of Results
2001	1
2004	1
2005	1
2006	2
2008	5
2010	1
2011	2
2012	3
2013	5
2014	4
2015	3
2016	1
2023	0

1

Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma.

Huang X, Xiao X, Jia X, Li S, Li M, Guo X, Liu X, Zhang Q. Huang X, et al. Int J Mol Med. 2015 Oct;36(4):1111-7. doi: 10.3892/ijmm.2015.2325. Epub 2015 Aug 24. Int J Mol Med. 2015. PMID: 26310487

2

Clinical phenotype of the recurrent 1q21.1 copy-number variant.

Bernier R, Steinman KJ, Reilly B, Wallace AS, Sherr EH, Pojman N, Mefford HC, Gerdts J, Earl R, Hanson E, Goin-Kochel RP, Berry L, Kanne S, Snyder LG, Spence S, Ramocki MB, Evans DW, Spiro JE, Martin CL, Ledbetter DH, Chung WK; Simons VIP consortium. Bernier R, et al. Genet Med. 2016 Apr;18(4):341-9. doi: 10.1038/gim.2015.78. Epub 2015 Jun 11. Genet Med. 2016. PMID: 26066539 Free PMC article.

3

Concurrent exome-targeted next-generation sequencing and single nucleotide polymorphism array to identify the causative genetic aberrations of isolated Mayer-Rokitansky-Küster-Hauser syndrome.

Chen MJ, Wei SY, Yang WS, Wu TT, Li HY, Ho HN, Yang YS, Chen PL. Chen MJ, et al. Hum Reprod. 2015 Jul;30(7):1732-42. doi: 10.1093/humrep/dev095. Epub 2015 Apr 29. Hum Reprod. 2015. PMID: 25924657

4

Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract.

Mackay DS, Bennett TM, Culican SM, Shiels A. Mackay DS, et al. Hum Genomics. 2014 Nov 18;8(1):19. doi: 10.1186/s40246-014-0019-6. Hum Genomics. 2014. PMID: 25403472 Free PMC article.

5

Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.

Hwang DY, Dworschak GC, Kohl S, Saisawat P, Vivante A, Hilger AC, Reutter HM, Soliman NA, Bogdanovic R, Kehinde EO, Tasic V, Hildebrandt F. Hwang DY, et al. Kidney Int. 2014 Jun;85(6):1429-33. doi: 10.1038/ki.2013.508. Epub 2014 Jan 15. Kidney Int. 2014. PMID: 24429398 Free PMC article.

6

Analysis of copy number variations at 15 schizophrenia-associated loci.

Rees E, Walters JT, Georgieva L, Isles AR, Chambert KD, Richards AL, Mahoney-Davies G, Legge SE, Moran JL, McCarroll SA, O'Donovan MC, Owen MJ, Kirov G. Rees E, et al. Br J Psychiatry. 2014 Feb;204(2):108-14. doi: 10.1192/bjp.bp.113.131052. Epub 2013 Dec 5. Br J Psychiatry. 2014. PMID: 24311552 Free PMC article.

7

Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.

Prokudin I, Simons C, Grigg JR, Storen R, Kumar V, Phua ZY, Smith J, Flaherty M, Davila S, Jamieson RV. Prokudin I, et al. Eur J Hum Genet. 2014 Jul;22(7):907-15. doi: 10.1038/ejhg.2013.268. Epub 2013 Nov 27. Eur J Hum Genet. 2014. PMID: 24281366 Free PMC article. Clinical Trial.

8

De novo mutations in histone-modifying genes in congenital heart disease.

Zaidi S, Choi M, Wakimoto H, Ma L, Jiang J, Overton JD, Romano-Adesman A, Bjornson RD, Breitbart RE, Brown KK, Carriero NJ, Cheung YH, Deanfield J, DePalma S, Fakhro KA, Glessner J, Hakonarson H, Italia MJ, Kaltman JR, Kaski J, Kim R, Kline JK, Lee T, Leipzig J, Lopez A, Mane SM, Mitchell LE, Newburger JW, Parfenov M, Pe'er I, Porter G, Roberts AE, Sachidanandam R, Sanders SJ, Seiden HS, State MW, Subramanian S, Tikhonova IR, Wang W, Warburton D, White PS, Williams IA, Zhao H, Seidman JG, Brueckner M, Chung WK, Gelb BD, Goldmuntz E, Seidman CE, Lifton RP. Zaidi S, et al. Nature. 2013 Jun 13;498(7453):220-3. doi: 10.1038/nature12141. Epub 2013 May 12. Nature. 2013. PMID: 23665959 Free PMC article.

9

Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis.

Digilio MC, Bernardini L, Consoli F, Lepri FR, Giuffrida MG, Baban A, Surace C, Ferese R, Angioni A, Novelli A, Marino B, De Luca A, Dallapiccola B. Digilio MC, et al. Eur J Med Genet. 2013 Mar;56(3):144-9. doi: 10.1016/j.ejmg.2012.12.004. Epub 2012 Dec 25. Eur J Med Genet. 2013. PMID: 23270675

10

A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot.

Guida V, Ferese R, Rocchetti M, Bonetti M, Sarkozy A, Cecchetti S, Gelmetti V, Lepri F, Copetti M, Lamorte G, Cristina Digilio M, Marino B, Zaza A, den Hertog J, Dallapiccola B, De Luca A. Guida V, et al. Eur J Hum Genet. 2013 Jan;21(1):69-75. doi: 10.1038/ejhg.2012.109. Epub 2012 Jun 20. Eur J Hum Genet. 2013. PMID: 22713807 Free PMC article.

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