Bedoyan JK - Search Results

1

A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia.

Bedoyan JK, Lesperance MM, Ackley T, Iyer RK, Innis JW, Misra VK. Bedoyan JK, et al. Am J Med Genet A. 2011 Jan;155A(1):154-63. doi: 10.1002/ajmg.a.33751. Epub 2010 Dec 10. Am J Med Genet A. 2011. PMID: 21204225 Free PMC article.

2

Duplication 16p11.2 in a child with infantile seizure disorder.

Bedoyan JK, Kumar RA, Sudi J, Silverstein F, Ackley T, Iyer RK, Christian SL, Martin DM. Bedoyan JK, et al. Am J Med Genet A. 2010 Jun;152A(6):1567-74. doi: 10.1002/ajmg.a.33415. Am J Med Genet A. 2010. PMID: 20503337 Free PMC article.

3

Novel multilocus imprinting disturbances in a child with expressive language delay and intellectual disability.

Tayeh MK, DeVaul J, LeSueur K, Yang C, Bedoyan JK, Thomas P, Hannibal MC, Innis JW. Tayeh MK, et al. Among authors: bedoyan jk. Am J Med Genet A. 2022 Jul;188(7):2209-2216. doi: 10.1002/ajmg.a.62752. Epub 2022 Apr 1. Am J Med Genet A. 2022. PMID: 35365979 Free PMC article.

4

Novel DICER1 mutation as cause of multinodular goiter in children.

Darrat I, Bedoyan JK, Chen M, Schuette JL, Lesperance MM. Darrat I, et al. Among authors: bedoyan jk. Head Neck. 2013 Dec;35(12):E369-71. doi: 10.1002/hed.23250. Epub 2013 Jun 1. Head Neck. 2013. PMID: 23728841 Free PMC article.

5

First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome.

Bedoyan JK, Friez MJ, DuPont B, Ahmad A. Bedoyan JK, et al. Eur J Med Genet. 2009 Jul-Aug;52(4):262-4. doi: 10.1016/j.ejmg.2008.12.001. Epub 2008 Dec 16. Eur J Med Genet. 2009. PMID: 19110080

6

Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder.

Bedoyan JK, Schaibley VM, Peng W, Bai Y, Mondal K, Shetty AC, Durham M, Micucci JA, Dhiraaj A, Skidmore JM, Kaplan JB, Skinner C, Schwartz CE, Antonellis A, Zwick ME, Cavalcoli JD, Li JZ, Martin DM. Bedoyan JK, et al. J Med Genet. 2012 May;49(5):332-40. doi: 10.1136/jmedgenet-2011-100575. J Med Genet. 2012. PMID: 22581972 Free PMC article.

7

Cryptic duplication of 12q24.33 --> qter in a child with Angelman syndrome-simultaneous occurrence of two unrelated cytogenetic events.

Sathanoori M, Hu J, Murthy V, Byrnes A, Vockley J, Safier R, Bedoyan J, Jalal SM, Huber H, Surti U. Sathanoori M, et al. Am J Med Genet A. 2007 May 1;143A(9):985-94. doi: 10.1002/ajmg.a.31682. Am J Med Genet A. 2007. PMID: 17394213

8

Transmission of ring chromosome 13 from a mother to daughter with both having a 46,XX, r(13)(p13q34) karyotype.

Bedoyan JK, Flore LA, Alkatib A, Ebrahim SA, Bawle EV. Bedoyan JK, et al. Am J Med Genet A. 2004 Sep 1;129A(3):316-20. doi: 10.1002/ajmg.a.30242. Am J Med Genet A. 2004. PMID: 15326636

9

Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement.

Ou Z, Martin DM, Bedoyan JK, Cooper ML, Chinault AC, Stankiewicz P, Cheung SW. Ou Z, et al. Among authors: bedoyan jk. Am J Med Genet A. 2008 Oct 1;146A(19):2480-9. doi: 10.1002/ajmg.a.32398. Am J Med Genet A. 2008. PMID: 18666230 Free article.

10

Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency.

Quinonez SC, Leber SM, Martin DM, Thoene JG, Bedoyan JK. Quinonez SC, et al. Among authors: bedoyan jk. Pediatr Neurol. 2013 Jan;48(1):67-72. doi: 10.1016/j.pediatrneurol.2012.09.013. Pediatr Neurol. 2013. PMID: 23290025 Free PMC article.

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