Suri M - Search Results

1

7q11.23 Microduplication: a recognizable phenotype.

Dixit A, McKee S, Mansour S, Mehta SG, Tanteles GA, Anastasiadou V, Patsalis PC, Martin K, McCullough S, Suri M, Sarkar A. Dixit A, et al. Among authors: suri m. Clin Genet. 2013 Feb;83(2):155-61. doi: 10.1111/j.1399-0004.2012.01862.x. Epub 2012 Apr 8. Clin Genet. 2013. PMID: 22369319

2

Relatively mild phenotype in a patient with interstitial 6q24.3-q25.2 deletion.

Tanteles GA, Yates K, Martin K, Suri M. Tanteles GA, et al. Among authors: suri m. Clin Dysmorphol. 2007 Apr;16(2):101-104. doi: 10.1097/MCD.0b013e32806e0931. Clin Dysmorphol. 2007. PMID: 17351353

3

Mild phenotype in a patient with a de-novo 2.9-Mb interstitial deletion at 13q12.11.

Tanteles GA, Dixit A, Smith N, Martin K, Suri M. Tanteles GA, et al. Among authors: suri m. Clin Dysmorphol. 2011 Apr;20(2):61-65. doi: 10.1097/MCD.0b013e3283448498. Clin Dysmorphol. 2011. PMID: 21383552 No abstract available.

4

Denys-Drash syndrome and gonadoblastoma in a patient with Klinefelter syndrome.

Tanteles GA, Oakley S, Christian M, O'Neill D, Suri M. Tanteles GA, et al. Among authors: suri m. Clin Dysmorphol. 2011 Jul;20(3):131-135. doi: 10.1097/MCD.0b013e328346f6dc. Clin Dysmorphol. 2011. PMID: 21552011 No abstract available.

5

Pierpont syndrome: a collaborative study.

Wright EM, Suri M, White SM, de Leeuw N, Vulto-van Silfhout AT, Stewart F, McKee S, Mansour S, Connell FC, Chopra M, Kirk EP, Devriendt K, Reardon W, Brunner H, Donnai D. Wright EM, et al. Among authors: suri m. Am J Med Genet A. 2011 Sep;155A(9):2203-11. doi: 10.1002/ajmg.a.34147. Epub 2011 Aug 10. Am J Med Genet A. 2011. PMID: 21834056 Free PMC article.

6

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

Tatton-Brown K, Hanks S, Ruark E, Zachariou A, Duarte Sdel V, Ramsay E, Snape K, Murray A, Perdeaux ER, Seal S, Loveday C, Banka S, Clericuzio C, Flinter F, Magee A, McConnell V, Patton M, Raith W, Rankin J, Splitt M, Strenger V, Taylor C, Wheeler P, Temple KI, Cole T; Childhood Overgrowth Collaboration; Douglas J, Rahman N. Tatton-Brown K, et al. Oncotarget. 2011 Dec;2(12):1127-33. doi: 10.18632/oncotarget.385. Oncotarget. 2011. PMID: 22190405 Free PMC article.

7

Hypertelorism, radial ray defects, dextrocardia, hypoplastic ribs and renal anomaly: report of a second case and confirmation of the phenotype.

Fuchs GE, Suri M, Dux A, Craft EV, Vasudevan PC, Tanteles GA. Fuchs GE, et al. Among authors: suri m. Clin Dysmorphol. 2012 Jul;21(3):157-161. doi: 10.1097/MCD.0b013e328354e8cc. Clin Dysmorphol. 2012. PMID: 22610273 No abstract available.

8

17q12 microdeletion syndrome: three patients illustrating the phenotypic spectrum.

Dixit A, Patel C, Harrison R, Jarvis J, Hulton S, Smith N, Yates K, Silcock L, McMullan DJ, Suri M. Dixit A, et al. Among authors: suri m. Am J Med Genet A. 2012 Sep;158A(9):2317-21. doi: 10.1002/ajmg.a.35520. Epub 2012 Aug 6. Am J Med Genet A. 2012. PMID: 22887843

9

Pseudohypoparathyroidism type 1b due to paternal uniparental disomy of chromosome 20q.

Dixit A, Chandler KE, Lever M, Poole RL, Bullman H, Mughal MZ, Steggall M, Suri M. Dixit A, et al. Among authors: suri m. J Clin Endocrinol Metab. 2013 Jan;98(1):E103-8. doi: 10.1210/jc.2012-2639. Epub 2012 Nov 8. J Clin Endocrinol Metab. 2013. PMID: 23144470 Review.

10

Two Somali half-siblings with CHST3-related chondrodysplasia illustrating the phenotypic spectrum and intrafamilial variability.

Tanteles GA, Dixit A, Dhar S, Suri M. Tanteles GA, et al. Among authors: suri m. Am J Med Genet A. 2013 Oct;161A(10):2588-93. doi: 10.1002/ajmg.a.36094. Epub 2013 Aug 5. Am J Med Genet A. 2013. PMID: 23918704

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