Mendoza-Londono R - Search Results

1

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

Lionel AC, Costain G, Monfared N, Walker S, Reuter MS, Hosseini SM, Thiruvahindrapuram B, Merico D, Jobling R, Nalpathamkalam T, Pellecchia G, Sung WWL, Wang Z, Bikangaga P, Boelman C, Carter MT, Cordeiro D, Cytrynbaum C, Dell SD, Dhir P, Dowling JJ, Heon E, Hewson S, Hiraki L, Inbar-Feigenberg M, Klatt R, Kronick J, Laxer RM, Licht C, MacDonald H, Mercimek-Andrews S, Mendoza-Londono R, Piscione T, Schneider R, Schulze A, Silverman E, Siriwardena K, Snead OC, Sondheimer N, Sutherland J, Vincent A, Wasserman JD, Weksberg R, Shuman C, Carew C, Szego MJ, Hayeems RZ, Basran R, Stavropoulos DJ, Ray PN, Bowdin S, Meyn MS, Cohn RD, Scherer SW, Marshall CR. Lionel AC, et al. Genet Med. 2018 Apr;20(4):435-443. doi: 10.1038/gim.2017.119. Epub 2017 Aug 3. Genet Med. 2018. PMID: 28771251 Free PMC article.

2

Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification.

Stachon AC, Baskin B, Smith AC, Shugar A, Cytrynbaum C, Fishman L, Mendoza-Londono R, Klatt R, Teebi A, Ray PN, Weksberg R. Stachon AC, et al. Am J Med Genet A. 2007 Dec 15;143A(24):2924-30. doi: 10.1002/ajmg.a.32101. Am J Med Genet A. 2007. PMID: 18000985

3

Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting.

Goobie S, Knijnenburg J, Fitzpatrick D, Sharkey FH, Lionel AC, Marshall CR, Azam T, Shago M, Chong K, Mendoza-Londono R, den Hollander NS, Ruivenkamp C, Maher E, Tanke HJ, Szuhai K, Wintle RF, Scherer SW. Goobie S, et al. Cytogenet Genome Res. 2008;123(1-4):65-78. doi: 10.1159/000184693. Epub 2009 Mar 11. Cytogenet Genome Res. 2008. PMID: 19287140 Free PMC article.

4

Severe intellectual disability and autistic features associated with microduplication 2q23.1.

Chung BH, Mullegama S, Marshall CR, Lionel AC, Weksberg R, Dupuis L, Brick L, Li C, Scherer SW, Aradhya S, Stavropoulos DJ, Elsea SH, Mendoza-Londono R. Chung BH, et al. Eur J Hum Genet. 2012 Apr;20(4):398-403. doi: 10.1038/ejhg.2011.199. Epub 2011 Nov 16. Eur J Hum Genet. 2012. PMID: 22085900 Free PMC article.

5

Osteopathia striata with cranial sclerosis and developmental delay in a male with a mosaic deletion in chromosome region Xq11.2.

Chénier S, Noor A, Dupuis L, Stavropoulos DJ, Mendoza-Londono R. Chénier S, et al. Am J Med Genet A. 2012 Nov;158A(11):2946-52. doi: 10.1002/ajmg.a.35619. Epub 2012 Sep 17. Am J Med Genet A. 2012. PMID: 22987541

6

The collagenopathies: review of clinical phenotypes and molecular correlations.

Jobling R, D'Souza R, Baker N, Lara-Corrales I, Mendoza-Londono R, Dupuis L, Savarirayan R, Ala-Kokko L, Kannu P. Jobling R, et al. Curr Rheumatol Rep. 2014 Jan;16(1):394. doi: 10.1007/s11926-013-0394-3. Curr Rheumatol Rep. 2014. PMID: 24338780 Review.

7

Clinical characteristics in patients with interstitial deletions of chromosome region 12q21-q22 and identification of a critical region associated with keratosis pilaris.

Al-Maawali A, Marshall CR, Scherer SW, Dupuis L, Mendoza-Londono R, Stavropoulos DJ. Al-Maawali A, et al. Am J Med Genet A. 2014 Mar;164A(3):796-800. doi: 10.1002/ajmg.a.36356. Epub 2013 Dec 20. Am J Med Genet A. 2014. PMID: 24375972

8

Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders.

Al-Maawali A, Dupuis L, Blaser S, Heon E, Tarnopolsky M, Al-Murshedi F, Marshall CR, Paton T, Scherer SW; FORGE Canada Consortium; Roelofsen J, van Kuilenburg AB, Mendoza-Londono R. Al-Maawali A, et al. Eur J Hum Genet. 2015 Mar;23(3):310-6. doi: 10.1038/ejhg.2014.112. Epub 2014 Jun 25. Eur J Hum Genet. 2015. PMID: 24961627 Free PMC article.

9

Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.

Mercimek-Mahmutoglu S, Sidky S, Hyland K, Patel J, Donner EJ, Logan W, Mendoza-Londono R, Moharir M, Raiman J, Schulze A, Siriwardena K, Yoon G, Kyriakopoulou L. Mercimek-Mahmutoglu S, et al. Orphanet J Rare Dis. 2015 Feb 8;10:12. doi: 10.1186/s13023-015-0234-9. Orphanet J Rare Dis. 2015. PMID: 25758715 Free PMC article.

10

15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes.

Noor A, Dupuis L, Mittal K, Lionel AC, Marshall CR, Scherer SW, Stockley T, Vincent JB, Mendoza-Londono R, Stavropoulos DJ. Noor A, et al. Hum Mutat. 2015 Jul;36(7):689-93. doi: 10.1002/humu.22800. Hum Mutat. 2015. PMID: 25884337

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