Mendoza-Londono R - Search Results

1

Gahunia HK, Babyn PS, Kirsch S, Mendoza-Londono R. Gahunia HK, et al. Semin Musculoskelet Radiol. 2009 Sep;13(3):236-54. doi: 10.1055/s-0029-1237691. Epub 2009 Sep 1. Semin Musculoskelet Radiol. 2009. PMID: 19724992 Review.

2

Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.

Guo L, Salian S, Xue JY, Rath N, Rousseau J, Kim H, Ehresmann S, Moosa S, Nakagawa N, Kuroda H, Clayton-Smith J, Wang J, Wang Z, Banka S, Jackson A, Zhang YM, Wei ZJ, Hüning I, Brunet T, Ohashi H, Thomas MF, Bupp C, Miyake N, Matsumoto N, Mendoza-Londono R, Costain G, Hahn G, Di Donato N, Yigit G, Yamada T, Nishimura G, Ansel KM, Wollnik B, Hrabě de Angelis M, Mégarbané A, Rosenfeld JA, Heissmeyer V, Ikegawa S, Campeau PM. Guo L, et al. Am J Hum Genet. 2023 Jul 6;110(7):1068-1085. doi: 10.1016/j.ajhg.2023.06.001. Epub 2023 Jun 22. Am J Hum Genet. 2023. PMID: 37352860 Free PMC article.

3

Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome.

Thompson MD, Nezarati MM, Gillessen-Kaesbach G, Meinecke P, Mendoza-Londono R, Mornet E, Brun-Heath I, Squarcioni CP, Legeai-Mallet L, Munnich A, Cole DE. Thompson MD, et al. Am J Med Genet A. 2010 Jul;152A(7):1661-9. doi: 10.1002/ajmg.a.33438. Am J Med Genet A. 2010. PMID: 20578257

4

A rare unbalanced translocation (trisomy 5q33.3-qter, monosomy 13q34-qter) results in growth hormone deficiency and brain anomalies.

Joynt ACM, Deshwar AR, Zon J, Dupuis L, Wherrett DK, Mendoza-Londono R. Joynt ACM, et al. Mol Genet Genomic Med. 2021 Nov;9(11):e1821. doi: 10.1002/mgg3.1821. Epub 2021 Oct 8. Mol Genet Genomic Med. 2021. PMID: 34623774 Free PMC article.

5

Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation.

Barnett CP, Mendoza-Londono R, Blaser S, Gillis J, Dupuis L, Levin AV, Chiang PW, Spector E, Reardon W. Barnett CP, et al. Am J Med Genet A. 2009 Mar;149A(3):431-6. doi: 10.1002/ajmg.a.32657. Am J Med Genet A. 2009. PMID: 19208381

6

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

7

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.

8

Severe rhizomelic shortening in a child with a complex duplication/deletion rearrangement of chromosome X.

Deshwar AR, Dupuis L, Bergmann C, Stavropoulos J, Mendoza-Londono R. Deshwar AR, et al. Am J Med Genet A. 2018 Feb;176(2):450-454. doi: 10.1002/ajmg.a.38570. Epub 2017 Dec 22. Am J Med Genet A. 2018. PMID: 29271572

9

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.

10

Angelman syndrome due to a termination codon mutation of the UBE3A gene.

Al-Maawali A, Machado J, Fang P, Dupuis L, Faghfoury H, Mendoza-Londono R. Al-Maawali A, et al. J Child Neurol. 2013 Mar;28(3):392-5. doi: 10.1177/0883073812443591. Epub 2012 May 7. J Child Neurol. 2013. PMID: 22566713

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