Kimonis VE - Search Results

1

Apert syndrome: what prenatal radiographic findings should prompt its consideration?

Quintero-Rivera F, Robson CD, Reiss RE, Levine D, Benson C, Mulliken JB, Kimonis VE. Quintero-Rivera F, et al. Among authors: kimonis ve. Prenat Diagn. 2006 Oct;26(10):966-72. doi: 10.1002/pd.1539. Prenat Diagn. 2006. PMID: 16906598

2

Description of a case of distal 2p trisomy by array-based comparative genomic hybridization: a high resolution genome-wide investigation for chromosomal aneuploidy in a single assay.

Roberts AE, Irons MB, Kimonis VE, Mulliken JB, Morton CC, Lee C, Listewnik M. Roberts AE, et al. Among authors: kimonis ve. Am J Med Genet A. 2004 Oct 1;130A(2):204-7. doi: 10.1002/ajmg.a.30223. Am J Med Genet A. 2004. PMID: 15372522 Review. No abstract available.

3

Cockayne syndrome: the developing phenotype.

Tan WH, Baris H, Robson CD, Kimonis VE. Tan WH, et al. Among authors: kimonis ve. Am J Med Genet A. 2005 Jun 1;135(2):214-6. doi: 10.1002/ajmg.a.30731. Am J Med Genet A. 2005. PMID: 15887300

4

Intracranial anomalies detected by imaging studies in 30 patients with Apert syndrome.

Quintero-Rivera F, Robson CD, Reiss RE, Levine D, Benson CB, Mulliken JB, Kimonis VE. Quintero-Rivera F, et al. Among authors: kimonis ve. Am J Med Genet A. 2006 Jun 15;140(12):1337-8. doi: 10.1002/ajmg.a.31277. Am J Med Genet A. 2006. PMID: 16691624 No abstract available.

5

Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis?

Moog U, Roelens F, Mortier GR, Sijstermans H, Kelly M, Cox GF, Robson CD, Kimonis VE. Moog U, et al. Among authors: kimonis ve. Am J Med Genet A. 2007 Dec 15;143A(24):2973-80. doi: 10.1002/ajmg.a.31957. Am J Med Genet A. 2007. PMID: 18000896

6

Humoral immune deficiency and hemifacial microsomia seen in one family.

Mikhak Z, Mulliken JB, Lee J, Bonilla FA, Kimonis VE. Mikhak Z, et al. Among authors: kimonis ve. Cleft Palate Craniofac J. 2009 Sep;46(5):477-80. doi: 10.1597/08-169.1. Epub 2009 Feb 20. Cleft Palate Craniofac J. 2009. PMID: 19929099

7

Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1.

Columbres RCA, Chin Y, Pratti S, Quinn C, Gonzalez-Cuyar LF, Weiss M, Quintero-Rivera F, Kimonis V. Columbres RCA, et al. Genes (Basel). 2023 Mar 8;14(3):676. doi: 10.3390/genes14030676. Genes (Basel). 2023. PMID: 36980948 Free PMC article.

8

Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.

Robin NH, Taylor CJ, McDonald-McGinn DM, Zackai EH, Bingham P, Collins KJ, Earl D, Gill D, Granata T, Guerrini R, Katz N, Kimonis V, Lin JP, Lynch DR, Mohammed SN, Massey RF, McDonald M, Rogers RC, Splitt M, Stevens CA, Tischkowitz MD, Stoodley N, Leventer RJ, Pilz DT, Dobyns WB. Robin NH, et al. Am J Med Genet A. 2006 Nov 15;140(22):2416-25. doi: 10.1002/ajmg.a.31443. Am J Med Genet A. 2006. PMID: 17036343

9

Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome.

Kimonis VE, Mehta SG, Digiovanna JJ, Bale SJ, Pastakia B. Kimonis VE, et al. Genet Med. 2004 Nov-Dec;6(6):495-502. doi: 10.1097/01.gim.0000145045.17711.1c. Genet Med. 2004. PMID: 15545745

10

Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.

Doherty ES, Lacbawan F, Hadley DW, Brewer C, Zalewski C, Kim HJ, Solomon B, Rosenbaum K, Domingo DL, Hart TC, Brooks BP, Immken L, Lowry RB, Kimonis V, Shanske AL, Jehee FS, Bueno MR, Knightly C, McDonald-McGinn D, Zackai EH, Muenke M. Doherty ES, et al. Am J Med Genet A. 2007 Dec 15;143A(24):3204-15. doi: 10.1002/ajmg.a.32078. Am J Med Genet A. 2007. PMID: 18000976

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