Gajecka M - Search Results

1

Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function.

Paciorkowski AR, Thio LL, Rosenfeld JA, Gajecka M, Gurnett CA, Kulkarni S, Chung WK, Marsh ED, Gentile M, Reggin JD, Wheless JW, Balasubramanian S, Kumar R, Christian SL, Marini C, Guerrini R, Maltsev N, Shaffer LG, Dobyns WB. Paciorkowski AR, et al. Among authors: gajecka m. Eur J Hum Genet. 2011 Dec;19(12):1238-45. doi: 10.1038/ejhg.2011.121. Epub 2011 Jun 22. Eur J Hum Genet. 2011. PMID: 21694734 Free PMC article.

2

Differences in the composition of the bacterial element of the urinary tract microbiome in patients undergoing dialysis and patients after kidney transplantation.

Jaworska MM, Pecyna P, Jaskiewicz K, Rydzanicz M, Kaluzna M, Pawlaczyk K, Ploski R, Nowak-Malczewska DM, Karolak JA, Gajecka M. Jaworska MM, et al. Among authors: gajecka m. Front Microbiol. 2023 Jun 7;14:1187625. doi: 10.3389/fmicb.2023.1187625. eCollection 2023. Front Microbiol. 2023. PMID: 37350786 Free PMC article.

3

Prenatal Detection of a FOXF1 Deletion in a Fetus with ACDMPV and Hydronephrosis.

Bzdęga K, Kutkowska-Kaźmierczak A, Deutsch GH, Plaskota I, Smyk M, Niemiec M, Barczyk A, Obersztyn E, Modzelewski J, Lipska I, Stankiewicz P, Gajecka M, Rydzanicz M, Płoski R, Szczapa T, Karolak JA. Bzdęga K, et al. Among authors: gajecka m. Genes (Basel). 2023 Feb 23;14(3):563. doi: 10.3390/genes14030563. Genes (Basel). 2023. PMID: 36980834 Free PMC article.

4

Differential methylation of microRNA encoding genes may contribute to high myopia.

Swierkowska J, Vishweswaraiah S, Mrugacz M, Radhakrishna U, Gajecka M. Swierkowska J, et al. Among authors: gajecka m. Front Genet. 2023 Jan 4;13:1089784. doi: 10.3389/fgene.2022.1089784. eCollection 2022. Front Genet. 2023. PMID: 36685896 Free PMC article.

5

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.

6

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

7

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

8

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

9

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

10

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

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