Gajecka M - Search Results

1

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.

Dobyns WB, Mirzaa G, Christian SL, Petras K, Roseberry J, Clark GD, Curry CJ, McDonald-McGinn D, Medne L, Zackai E, Parsons J, Zand DJ, Hisama FM, Walsh CA, Leventer RJ, Martin CL, Gajecka M, Shaffer LG. Dobyns WB, et al. Among authors: gajecka m. Am J Med Genet A. 2008 Jul 1;146A(13):1637-54. doi: 10.1002/ajmg.a.32293. Am J Med Genet A. 2008. PMID: 18536050 Free PMC article.

2

Gender Influences Gut Microbiota among Patients with Irritable Bowel Syndrome.

Pecyna P, Gabryel M, Mankowska-Wierzbicka D, Nowak-Malczewska DM, Jaskiewicz K, Jaworska MM, Tomczak H, Rydzanicz M, Ploski R, Grzymislawski M, Dobrowolska A, Gajecka M. Pecyna P, et al. Among authors: gajecka m. Int J Mol Sci. 2023 Jun 21;24(13):10424. doi: 10.3390/ijms241310424. Int J Mol Sci. 2023. PMID: 37445604 Free PMC article.

3

Non-allergic eye rubbing is a major behavioral risk factor for keratoconus.

Jaskiewicz K, Maleszka-Kurpiel M, Michalski A, Ploski R, Rydzanicz M, Gajecka M. Jaskiewicz K, et al. Among authors: gajecka m. PLoS One. 2023 Apr 13;18(4):e0284454. doi: 10.1371/journal.pone.0284454. eCollection 2023. PLoS One. 2023. PMID: 37053215 Free PMC article.

4

The Impaired Wound Healing Process Is a Major Factor in Remodeling of the Corneal Epithelium in Adult and Adolescent Patients With Keratoconus.

Jaskiewicz K, Maleszka-Kurpiel M, Matuszewska E, Kabza M, Rydzanicz M, Malinowski R, Ploski R, Matysiak J, Gajecka M. Jaskiewicz K, et al. Among authors: gajecka m. Invest Ophthalmol Vis Sci. 2023 Feb 1;64(2):22. doi: 10.1167/iovs.64.2.22. Invest Ophthalmol Vis Sci. 2023. PMID: 36811882 Free PMC article.

5

Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements.

Ballif BC, Wakui K, Gajecka M, Shaffer LG. Ballif BC, et al. Among authors: gajecka m. Hum Genet. 2004 Jan;114(2):198-206. doi: 10.1007/s00439-003-1029-y. Epub 2003 Oct 25. Hum Genet. 2004. PMID: 14579147

6

Monosomy 1p36 breakpoints indicate repetitive DNA sequence elements may be involved in generating and/or stabilizing some terminal deletions.

Ballif BC, Gajecka M, Shaffer LG. Ballif BC, et al. Among authors: gajecka m. Chromosome Res. 2004;12(2):133-41. doi: 10.1023/b:chro.0000013165.88969.10. Chromosome Res. 2004. PMID: 15053483

7

Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure.

Gajecka M, Yu W, Ballif BC, Glotzbach CD, Bailey KA, Shaw CA, Kashork CD, Heilstedt HA, Ansel DA, Theisen A, Rice R, Rice DP, Shaffer LG. Gajecka M, et al. Eur J Hum Genet. 2005 Feb;13(2):139-49. doi: 10.1038/sj.ejhg.5201302. Eur J Hum Genet. 2005. PMID: 15483646

8

Characterization of a complex rearrangement with interstitial deletions and inversion on human chromosome 1.

Gajecka M, Glotzbach CD, Shaffer LG. Gajecka M, et al. Chromosome Res. 2006;14(3):277-82. doi: 10.1007/s10577-006-1044-7. Epub 2006 Apr 20. Chromosome Res. 2006. PMID: 16628498

9

Identification of sequence motifs at the breakpoint junctions in three t(1;9)(p36.3;q34) and delineation of mechanisms involved in generating balanced translocations.

Gajecka M, Pavlicek A, Glotzbach CD, Ballif BC, Jarmuz M, Jurka J, Shaffer LG. Gajecka M, et al. Hum Genet. 2006 Nov;120(4):519-26. doi: 10.1007/s00439-006-0222-1. Epub 2006 Jul 18. Hum Genet. 2006. PMID: 16847692

10

Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene.

Baris H, Bejjani BA, Tan WH, Coulter DL, Martin JA, Storm AL, Burton BK, Saitta SC, Gajecka M, Ballif BC, Irons MB, Shaffer LG, Kimonis VE. Baris H, et al. Among authors: gajecka m. Am J Med Genet A. 2006 Sep 1;140A(17):1876-9. doi: 10.1002/ajmg.a.31390. Am J Med Genet A. 2006. PMID: 16892302 Free article. No abstract available.

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