Jezela-Stanek A - Search Results

1

Computational Tools to Assist in Analyzing Effects of the SERPINA1 Gene Variation on Alpha-1 Antitrypsin (AAT).

Mróz J, Pelc M, Mitusińska K, Chorostowska-Wynimko J, Jezela-Stanek A. Mróz J, et al. Among authors: jezela stanek a. Genes (Basel). 2024 Mar 6;15(3):340. doi: 10.3390/genes15030340. Genes (Basel). 2024. PMID: 38540399 Free PMC article. Review.

2

Polish activity within Orphanet Europe--state of art of database and services.

Jezela-Stanek A, Karczmarewicz D, Chrzanowska KH, Krajewska-Walasek M. Jezela-Stanek A, et al. Dev Period Med. 2015 Oct-Dec;19(4):536-41. Dev Period Med. 2015. PMID: 26982769

3

The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene.

Jędrzejowska M, Dębek E, Kowalczyk B, Halat P, Kostera-Pruszczyk A, Ciara E, Jezela-Stanek A, Rydzanicz M, Gasperowicz P, Gos M. Jędrzejowska M, et al. Muscle Nerve. 2019 Jan;59(1):129-133. doi: 10.1002/mus.26346. Epub 2018 Oct 26. Muscle Nerve. 2019. PMID: 30230566

4

[The Smith-Lemli-Opitz syndrome--case report, early diagnosis].

Walencka Z, Baumert M, Paprotny M, Jezela-Stanek A, Małunowicz EM, Sikora J. Walencka Z, et al. Ginekol Pol. 2007 Mar;78(3):242-4. Ginekol Pol. 2007. PMID: 17650909 Polish.

5

Editorial.

Jezela-Stanek A. Jezela-Stanek A. J Mother Child. 2021 Oct 11;25(1):1. doi: 10.34763/jmotherandchild.20212501.edit.2021_25_01. J Mother Child. 2021. PMID: 34643349 Free PMC article. No abstract available.

6

Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?

Jezela-Stanek A, Ciara E, Małunowicz E, Chrzanowska K, Latos-Bieleńska A, Krajewska-Walasek M; Smith-Lemli-Opitz syndrome Collaborative Group. Jezela-Stanek A, et al. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S241-8. doi: 10.1007/s10545-010-9132-4. Epub 2010 Jun 16. J Inherit Metab Dis. 2010. PMID: 20556518

7

Cryptic x; autosome translocation in a boy--delineation of the phenotype.

Jezela-Stanek A, Ciara E, Juszczak M, Pelc M, Materna-Kiryluk A, Krajewska-Walasek M. Jezela-Stanek A, et al. Pediatr Neurol. 2011 Mar;44(3):221-4. doi: 10.1016/j.pediatrneurol.2010.10.007. Pediatr Neurol. 2011. PMID: 21310340

8

Minimal clinical findings in a patient with 15qter microdeletion syndrome: delineation of the associated phenotype.

Jezela-Stanek A, Kucharczyk M, Pelc M, Chrzanowska KH, Krajewska-Walasek M. Jezela-Stanek A, et al. Am J Med Genet A. 2012 Apr;158A(4):922-6. doi: 10.1002/ajmg.a.34440. Epub 2012 Feb 17. Am J Med Genet A. 2012. PMID: 22344789 No abstract available.

9

History and molecular characteristics of a patient with terminal deletion of 14q. Is this another syndrome with a striking phenotype?

Jezela-Stanek A, Kucharczyk M, Gutkowska A, Pelc M, Ciara E, Chrzanowska KH, Krajewska-Walasek M. Jezela-Stanek A, et al. Clin Dysmorphol. 2012 Apr;21(2):97-100. doi: 10.1097/MCD.0b013e32834e92b8. Clin Dysmorphol. 2012. PMID: 22391620 No abstract available.

10

1.15 Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay-additional case and data's review.

Jezela-Stanek A, Kucharczyk M, Pelc M, Gutkowska A, Krajewska-Walasek M. Jezela-Stanek A, et al. Am J Med Genet A. 2013 Jan;161A(1):172-8. doi: 10.1002/ajmg.a.35654. Epub 2012 Nov 19. Am J Med Genet A. 2013. PMID: 23165892 Review.

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