Descartes M - Search Results

1

Congenital central hypoventilation syndrome mimicking mitochondrial disease.

Rojnueangnit K, Descartes M. Rojnueangnit K, et al. Among authors: descartes m. Clin Case Rep. 2018 Jan 19;6(3):465-468. doi: 10.1002/ccr3.1320. eCollection 2018 Mar. Clin Case Rep. 2018. PMID: 29531718 Free PMC article.

2

Hajdu-Cheney syndrome: phenotypical progression with de-novo NOTCH2 mutation.

Descartes M, Rojnueangnit K, Cole L, Sutton A, Morgan SL, Patry L, Samuels ME. Descartes M, et al. Clin Dysmorphol. 2014 Jul;23(3):88-94. doi: 10.1097/MCD.0000000000000034. Clin Dysmorphol. 2014. PMID: 24608068 No abstract available.

3

A Familial Case of Multicentric Carpotarsal Osteolysis Syndrome and Treatment Outcome.

Upadia J, Gomes A, Weiser P, Descartes M. Upadia J, et al. Among authors: descartes m. J Pediatr Genet. 2018 Dec;7(4):174-179. doi: 10.1055/s-0038-1657760. Epub 2018 Jun 16. J Pediatr Genet. 2018. PMID: 30430035 Free PMC article.

4

Keratoconus in a patient with B3GALT6-related disorder.

Descartes M, Melenevsky YV, Rudy N, Smith K, Callaway K, Parker JS. Descartes M, et al. Clin Genet. 2021 Jun;99(6):849-850. doi: 10.1111/cge.13940. Epub 2021 Feb 25. Clin Genet. 2021. PMID: 33631843 No abstract available.

5

Inherited CSNK2A1 variants in families with Okur-Chung neurodevelopmental syndrome.

Belnap N, Price-Smith A, Ramsey K, Leka K, Abraham A, Lieberman E, Hassett K, Potu S, Rudy N, Smith K, Mikhail FM, Monaghan KG, Hendershot A, Mourmans J, Descartes M, Huentelman MJ, Sills J, Rangasamy S, Narayanan V. Belnap N, et al. Among authors: descartes m. Clin Genet. 2023 Nov;104(5):607-609. doi: 10.1111/cge.14408. Epub 2023 Jul 25. Clin Genet. 2023. PMID: 37491870

6

Congenital oculomotor nerve synkinesis associated with fetal retinoid syndrome.

Morrison DG, Elsas FJ, Descartes M. Morrison DG, et al. Among authors: descartes m. J AAPOS. 2005 Apr;9(2):166-8. doi: 10.1016/j.jaapos.2004.12.017. J AAPOS. 2005. PMID: 15838445

7

Terminal deletion of the long arm of chromosome 4 in a mother and two sons.

Descartes M, Keppler-Noreuil K, Knops J, Longshore JW, Finley WH, Carroll AJ. Descartes M, et al. Clin Genet. 1996 Dec;50(6):538-40. doi: 10.1111/j.1399-0004.1996.tb02733.x. Clin Genet. 1996. PMID: 9147894 Review.

8

Oculoauriculovertebral spectrum with 5p15.33-pter deletion.

Descartes M. Descartes M. Clin Dysmorphol. 2006 Jul;15(3):153-154. doi: 10.1097/01.mcd.0000204989.46743.ad. Clin Dysmorphol. 2006. PMID: 16760734

9

A new syndrome with Stargardt macular degeneration, abnormalities of the corpus callosum, mental retardation, and dysmorphic features: a case report of two siblings.

Descartes M, Royal SA, Franklin J, Goodin K, Mancuso M, Mikhail FM, Holt L. Descartes M, et al. Clin Dysmorphol. 2009 Jul;18(3):178-180. doi: 10.1097/MCD.0b013e32832a9ef2. Clin Dysmorphol. 2009. PMID: 19451813 No abstract available.

10

Monosomy1p36.3 and trisomy 19p13.3 in a child with periventricular nodular heterotopia.

Descartes M, Mikhail FM, Franklin JC, McGrath TM, Bebin M. Descartes M, et al. Pediatr Neurol. 2011 Oct;45(4):274-8. doi: 10.1016/j.pediatrneurol.2011.06.002. Pediatr Neurol. 2011. PMID: 21907895

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