Turner CE - Search Results

1

De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.

Ma L, Bayram Y, McLaughlin HM, Cho MT, Krokosky A, Turner CE, Lindstrom K, Bupp CP, Mayberry K, Mu W, Bodurtha J, Weinstein V, Zadeh N, Alcaraz W, Powis Z, Shao Y, Scott DA, Lewis AM, White JJ, Jhangiani SN, Gulec EY, Lalani SR, Lupski JR, Retterer K, Schnur RE, Wentzensen IM, Bale S, Chung WK. Ma L, et al. Among authors: turner ce. Hum Genet. 2016 Dec;135(12):1399-1409. doi: 10.1007/s00439-016-1731-1. Epub 2016 Sep 28. Hum Genet. 2016. PMID: 27681385 Free PMC article.

2

De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review.

van den Akker WMR, Brummelman I, Martis LM, Timmermans RN, Pfundt R, Kleefstra T, Willemsen MH, Gerkes EH, Herkert JC, van Essen AJ, Rump P, Vansenne F, Terhal PA, van Haelst MM, Cristian I, Turner CE, Cho MT, Begtrup A, Willaert R, Fassi E, van Gassen KLI, Stegmann APA, de Vries BBA, Schuurs-Hoeijmakers JHM. van den Akker WMR, et al. Among authors: turner ce. Clin Genet. 2018 May;93(5):1000-1007. doi: 10.1111/cge.13225. Clin Genet. 2018. PMID: 29393965

3

Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p.

Francomano CA, Ortiz de Luna RI, Hefferon TW, Bellus GA, Turner CE, Taylor E, Meyers DA, Blanton SH, Murray JC, McIntosh I, et al. Francomano CA, et al. Among authors: turner ce. Hum Mol Genet. 1994 May;3(5):787-92. doi: 10.1093/hmg/3.5.787. Hum Mol Genet. 1994. PMID: 8081365

4

1.3 Mb de novo deletion in chromosome band 3q29 associated with normal intelligence in a child.

Cobb W, Anderson A, Turner C, Hoffman RD, Schonberg S, Levin SW. Cobb W, et al. Eur J Med Genet. 2010 Nov-Dec;53(6):415-8. doi: 10.1016/j.ejmg.2010.08.009. Epub 2010 Sep 9. Eur J Med Genet. 2010. PMID: 20832509

5

Genotype first: Clinical genomics research through a reverse phenotyping approach.

Wilczewski CM, Obasohan J, Paschall JE, Zhang S, Singh S, Maxwell GL, Similuk M, Wolfsberg TG, Turner C, Biesecker LG, Katz AE. Wilczewski CM, et al. Am J Hum Genet. 2023 Jan 5;110(1):3-12. doi: 10.1016/j.ajhg.2022.12.004. Am J Hum Genet. 2023. PMID: 36608682 Free PMC article. Review.

6

Seven ring (X) chromosomes lacking the XIST locus, six with an unexpectedly mild phenotype.

Turner C, Dennis NR, Skuse DH, Jacobs PA. Turner C, et al. Hum Genet. 2000 Jan;106(1):93-100. doi: 10.1007/s004390051015. Hum Genet. 2000. PMID: 10982188

7

A clinical, cytogenetic and molecular study of 47 females with r(X) chromosomes.

Dennis N, Coppin B, Turner C, Skuse D, Jacobs P. Dennis N, et al. Ann Hum Genet. 2000 Jul;64(Pt 4):277-93. doi: 10.1017/S0003480000008162. Ann Hum Genet. 2000. PMID: 11415513

8

Trisomy 9 mosaicism and XX sex reversal.

Solomon BD, Turner CE, Klugman D, Sparks SE. Solomon BD, et al. Among authors: turner ce. Am J Med Genet A. 2007 Nov 15;143A(22):2688-91. doi: 10.1002/ajmg.a.31996. Am J Med Genet A. 2007. PMID: 17935231

9

Ring-X chromosomes: their cognitive and behavioural phenotype.

Kuntsi J, Skuse D, Elgar K, Morris E, Turner C. Kuntsi J, et al. Ann Hum Genet. 2000 Jul;64(Pt 4):295-305. doi: 10.1017/S0003480000008174. Ann Hum Genet. 2000. PMID: 11415514

10

Molecularly defined interstitial tandem duplication 6p case with mild manifestations.

Ng D, Mowrey P, Ragoussis J, Mirza G, Coll E, Di Fazio MP, Turner C, Levin SW. Ng D, et al. Am J Med Genet. 2001 Nov 1;103(4):320-5. Am J Med Genet. 2001. PMID: 11746013

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