Mikhail FM - Search Results

1

Recurrent microdeletions at chromosome 2p11.2 are associated with thymic hypoplasia and features resembling DiGeorge syndrome.

Bernstock JD, Totten AH, Elkahloun AG, Johnson KR, Hurst AC, Goldman F, Groves AK, Mikhail FM, Atkinson TP. Bernstock JD, et al. Among authors: mikhail fm. J Allergy Clin Immunol. 2020 Jan;145(1):358-367.e2. doi: 10.1016/j.jaci.2019.09.020. Epub 2019 Oct 7. J Allergy Clin Immunol. 2020. PMID: 31600545 Free PMC article.

2

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.

3

A previously unrecognized 22q13.2 microdeletion syndrome that encompasses TCF20 and TNFRSF13C.

Upadia J, Gonzales PR, Atkinson TP, Schroeder HW, Robin NH, Rudy NL, Mikhail FM. Upadia J, et al. Among authors: mikhail fm. Am J Med Genet A. 2018 Dec;176(12):2791-2797. doi: 10.1002/ajmg.a.40492. Epub 2018 Sep 14. Am J Med Genet A. 2018. PMID: 30216695 Review.

4

Maternal uniparental isodisomy for chromosome 6 discovered by paternity testing: a case report.

Kerr ER, Stuhlmiller GM, Maha GC, Ladd MA, Mikhail FM, Koester RP, Hurst ACE. Kerr ER, et al. Among authors: mikhail fm. Mol Cytogenet. 2018 Dec 20;11:60. doi: 10.1186/s13039-018-0411-3. eCollection 2018. Mol Cytogenet. 2018. PMID: 30598700 Free PMC article.

5

Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion).

Woodfin T, Stoops C, Philips JB 3rd, Lose E, Mikhail FM, Hurst A. Woodfin T, et al. Among authors: mikhail fm. Mol Genet Genomic Med. 2019 Aug;7(8):e829. doi: 10.1002/mgg3.829. Epub 2019 Jun 28. Mol Genet Genomic Med. 2019. PMID: 31250568 Free PMC article.

6

DLG2 intragenic exonic deletions reinforce the link to neurodevelopmental disorders and suggest a potential association with congenital anomalies and dysmorphism.

Chen Y, Karaca E, Robin NH, Goodloe D, Al-Beshri A, Dean SJ, Hurst ACE, Carroll AJ, Mikhail FM. Chen Y, et al. Among authors: mikhail fm. Genet Med. 2024 Jan;26(1):101010. doi: 10.1016/j.gim.2023.101010. Epub 2023 Oct 16. Genet Med. 2024. PMID: 37860969 Free article.

7

Constitutional Mosaic Pericentromeric Trisomy 8 in a Female Patient With Aplastic Anemia.

Gao M, Chen Y, Lertwilaiwittaya P, Hurst ACE, Al-Beshri A, Carroll AJ, Mikhail FM. Gao M, et al. Among authors: mikhail fm. Am J Med Genet A. 2024 Dec 2:e63951. doi: 10.1002/ajmg.a.63951. Online ahead of print. Am J Med Genet A. 2024. PMID: 39622782

8

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

9

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

10

Cleft palate in a patient with the nested 22q11.2 LCR C to D deletion.

Williams CL, Nelson KR, Grant JH, Mikhail FM, Robin NH. Williams CL, et al. Among authors: mikhail fm. Am J Med Genet A. 2016 Jan;170A(1):260-2. doi: 10.1002/ajmg.a.37408. Epub 2015 Sep 30. Am J Med Genet A. 2016. PMID: 26419407 No abstract available.

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