Shen Y - Search Results

1

Delayed puberty and estrogen resistance in a woman with estrogen receptor α variant.

Quaynor SD, Stradtman EW Jr, Kim HG, Shen Y, Chorich LP, Schreihofer DA, Layman LC. Quaynor SD, et al. Among authors: shen y. N Engl J Med. 2013 Jul 11;369(2):164-71. doi: 10.1056/NEJMoa1303611. N Engl J Med. 2013. PMID: 23841731 Free PMC article.

2

Spectrum of genes involved in a unique case of Potocki Schaffer syndrome with a large chromosome 11 deletion.

Romeike BF, Shen Y, Nishimoto HK, Morton CC, Layman LC, Kim HG. Romeike BF, et al. Among authors: shen y. Clin Neuropathol. 2014 May-Jun;33(3):238-44. doi: 10.5414/np300691. Clin Neuropathol. 2014. PMID: 24780589 Free PMC article.

3

Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability.

Labonne JD, Shen Y, Kong IK, Diamond MP, Layman LC, Kim HG. Labonne JD, et al. Among authors: shen y. Mol Cytogenet. 2016 Mar 17;9:24. doi: 10.1186/s13039-016-0234-z. eCollection 2016. Mol Cytogenet. 2016. PMID: 26997977 Free PMC article.

4

A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies.

Labonne JD, Graves TD, Shen Y, Jones JR, Kong IK, Layman LC, Kim HG. Labonne JD, et al. Among authors: shen y. BMC Neurol. 2016 Aug 9;16:132. doi: 10.1186/s12883-016-0642-z. BMC Neurol. 2016. PMID: 27506666 Free PMC article.

5

Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families.

Williams LS, Demir Eksi D, Shen Y, Lossie AC, Chorich LP, Sullivan ME, Phillips JA 3rd, Erman M, Kim HG, Alper OM, Layman LC. Williams LS, et al. Among authors: shen y. Fertil Steril. 2017 Jul;108(1):145-151.e2. doi: 10.1016/j.fertnstert.2017.05.017. Epub 2017 Jun 7. Fertil Steril. 2017. PMID: 28600106 Free PMC article.

6

Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia.

Demir Eksi D, Shen Y, Erman M, Chorich LP, Sullivan ME, Bilekdemir M, Yılmaz E, Luleci G, Kim HG, Alper OM, Layman LC. Demir Eksi D, et al. Among authors: shen y. Mol Cytogenet. 2018 Feb 3;11:13. doi: 10.1186/s13039-018-0359-3. eCollection 2018. Mol Cytogenet. 2018. PMID: 29434669 Free PMC article.

7

Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene.

Bhagavath B, Layman LC, Ullmann R, Shen Y, Ha K, Rehman K, Looney S, McDonough PG, Kim HG, Carr BR. Bhagavath B, et al. Among authors: shen y. Mol Cell Endocrinol. 2014 Aug 5;393(1-2):1-7. doi: 10.1016/j.mce.2014.05.006. Epub 2014 Jun 4. Mol Cell Endocrinol. 2014. PMID: 24907458 Free PMC article.

8

The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability.

Ha K, Shen Y, Graves T, Kim CH, Kim HG. Ha K, et al. Among authors: shen y. Mol Cytogenet. 2016 Sep 29;9:74. doi: 10.1186/s13039-016-0286-0. eCollection 2016. Mol Cytogenet. 2016. PMID: 27708714 Free PMC article.

9

Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.

Nguyen LS, Kim HG, Rosenfeld JA, Shen Y, Gusella JF, Lacassie Y, Layman LC, Shaffer LG, Gécz J. Nguyen LS, et al. Among authors: shen y. Hum Mol Genet. 2013 May 1;22(9):1816-25. doi: 10.1093/hmg/ddt035. Epub 2013 Jan 31. Hum Mol Genet. 2013. PMID: 23376982

10

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.

Kim HG, Kim HT, Leach NT, Lan F, Ullmann R, Silahtaroglu A, Kurth I, Nowka A, Seong IS, Shen Y, Talkowski ME, Ruderfer D, Lee JH, Glotzbach C, Ha K, Kjaergaard S, Levin AV, Romeike BF, Kleefstra T, Bartsch O, Elsea SH, Jabs EW, MacDonald ME, Harris DJ, Quade BJ, Ropers HH, Shaffer LG, Kutsche K, Layman LC, Tommerup N, Kalscheuer VM, Shi Y, Morton CC, Kim CH, Gusella JF. Kim HG, et al. Among authors: shen y. Am J Hum Genet. 2012 Jul 13;91(1):56-72. doi: 10.1016/j.ajhg.2012.05.005. Epub 2012 Jul 5. Am J Hum Genet. 2012. PMID: 22770980 Free PMC article.

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