Kimonis VE - Search Results

1

Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement.

Alkuraya FS, Lin AE, Irons MB, Kimonis VE. Alkuraya FS, et al. Among authors: kimonis ve. Am J Med Genet A. 2005 Jan 15;132A(2):226-30. doi: 10.1002/ajmg.a.30423. Am J Med Genet A. 2005. PMID: 15580636 Review.

2

Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature.

Roberts AE, Cox GF, Kimonis V, Lamb A, Irons M. Roberts AE, et al. Am J Med Genet A. 2004 Aug 1;128A(4):352-63. doi: 10.1002/ajmg.a.30142. Am J Med Genet A. 2004. PMID: 15264280 Review.

3

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.

4

A patient with a ring chromosome 2 and microdeletion of 2q detected using FISH: Further support for "ring chromosome 2 syndrome".

Alkuraya FS, Kimonis VE, Holt L, Murata-Collins JL. Alkuraya FS, et al. Among authors: kimonis ve. Am J Med Genet A. 2005 Feb 1;132A(4):447-9. doi: 10.1002/ajmg.a.30437. Am J Med Genet A. 2005. PMID: 15580637 Review. No abstract available.

5

Hypothelia, syndactyly, and ear malformation--a variant of the scalp-ear-nipple syndrome?: Case report and review of the literature.

Baris H, Tan WH, Kimonis VE. Baris H, et al. Among authors: kimonis ve. Am J Med Genet A. 2005 Apr 15;134A(2):220-2. doi: 10.1002/ajmg.a.30612. Am J Med Genet A. 2005. PMID: 15712197 Review.

6

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

7

Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work?

Alkuraya FS, Picker J, Irons MB, Kimonis VE. Alkuraya FS, et al. Among authors: kimonis ve. Birth Defects Res A Clin Mol Teratol. 2005 Aug;73(8):569-71. doi: 10.1002/bdra.20165. Birth Defects Res A Clin Mol Teratol. 2005. PMID: 15965973

8

Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome.

Kantarci S, Casavant D, Prada C, Russell M, Byrne J, Haug LW, Jennings R, Manning S, Boyd TK, Fryns JP, Holmes LB, Donahoe PK, Lee C, Kimonis V, Pober BR. Kantarci S, et al. Am J Med Genet A. 2006 Jan 1;140(1):17-23. doi: 10.1002/ajmg.a.31025. Am J Med Genet A. 2006. PMID: 16333846 Free PMC article.

9

Manifestations in a family with autosomal dominant bone fragility and limb-girdle myopathy.

Mehta SG, Watts GD, McGillivray B, Mumm S, Hamilton SJ, Ramdeen S, Novack D, Briggs C, Whyte MP, Kimonis VE. Mehta SG, et al. Among authors: kimonis ve. Am J Med Genet A. 2006 Feb 15;140(4):322-30. doi: 10.1002/ajmg.a.31008. Am J Med Genet A. 2006. PMID: 16419137

10

Recurrent miscarriage in a carrier of a balanced cytogenetically undetectable subtelomeric rearrangement: how many are we missing?

Alkuraya FS, Martin CL, Kimonis VE. Alkuraya FS, et al. Among authors: kimonis ve. Prenat Diagn. 2006 Mar;26(3):291-3. doi: 10.1002/pd.1387. Prenat Diagn. 2006. PMID: 16506278 No abstract available.

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