Mikhail FM - Search Results

1

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: mikhail fm. Clin Genet. 2023 Nov;104(5):607-609. doi: 10.1111/cge.14408. Epub 2023 Jul 25. Clin Genet. 2023. PMID: 37491870

2

Complete trisomy 17p syndrome in a girl with der(14)t(14;17)(p11.2;p11.2).

Mikhail FM, McIlvried D, Holt RL, Messiaen L, Descartes MD, Carroll AJ. Mikhail FM, et al. Am J Med Genet A. 2006 Aug 1;140(15):1647-54. doi: 10.1002/ajmg.a.31330. Am J Med Genet A. 2006. PMID: 16835929

3

A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene.

Mikhail FM, Descartes M, Piotrowski A, Andersson R, Diaz de Ståhl T, Komorowski J, Bruder CE, Dumanski JP, Carroll AJ. Mikhail FM, et al. Am J Med Genet A. 2007 Sep 15;143A(18):2178-84. doi: 10.1002/ajmg.a.31882. Am J Med Genet A. 2007. PMID: 17676630

4

Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities.

Descartes M, Hain JZ, Conklin M, Franklin J, Mikhail FM, Lachman RS, Nolet S, Messiaen LM. Descartes M, et al. Among authors: mikhail fm. Am J Med Genet A. 2008 Nov 15;146A(22):2937-43. doi: 10.1002/ajmg.a.32550. Am J Med Genet A. 2008. PMID: 18925675

5

Distal 22q11.2 microduplication encompassing the BCR gene.

Descartes M, Franklin J, Diaz de Ståhl T, Piotrowski A, Bruder CE, Dumanski JP, Carroll AJ, Mikhail FM. Descartes M, et al. Among authors: mikhail fm. Am J Med Genet A. 2008 Dec 1;146A(23):3075-81. doi: 10.1002/ajmg.a.32572. Am J Med Genet A. 2008. PMID: 19006218

6

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. Among authors: mikhail fm. Clin Dysmorphol. 2009 Jul;18(3):178-180. doi: 10.1097/MCD.0b013e32832a9ef2. Clin Dysmorphol. 2009. PMID: 19451813 No abstract available.

7

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. Among authors: mikhail fm. Pediatr Neurol. 2011 Oct;45(4):274-8. doi: 10.1016/j.pediatrneurol.2011.06.002. Pediatr Neurol. 2011. PMID: 21907895

8

Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders.

Mikhail FM, Lose EJ, Robin NH, Descartes MD, Rutledge KD, Rutledge SL, Korf BR, Carroll AJ. Mikhail FM, et al. Am J Med Genet A. 2011 Oct;155A(10):2386-96. doi: 10.1002/ajmg.a.34177. Am J Med Genet A. 2011. PMID: 22031302

9

The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system.

Mikhail FM, Burnside RD, Rush B, Ibrahim J, Godshalk R, Rutledge SL, Robin NH, Descartes MD, Carroll AJ. Mikhail FM, et al. Genet Med. 2014 Jan;16(1):92-100. doi: 10.1038/gim.2013.79. Epub 2013 Jun 13. Genet Med. 2014. PMID: 23765049 Free article.

10

Clinical relevance of small copy-number variants in chromosomal microarray clinical testing.

Hollenbeck D, Williams CL, Drazba K, Descartes M, Korf BR, Rutledge SL, Lose EJ, Robin NH, Carroll AJ, Mikhail FM. Hollenbeck D, et al. Among authors: mikhail fm. Genet Med. 2017 Apr;19(4):377-385. doi: 10.1038/gim.2016.132. Epub 2016 Sep 15. Genet Med. 2017. PMID: 27632688 Free article.

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