Smigiel R - Search Results

1

MAP2K2 mutation as a cause of cardio-facio-cutaneous syndrome in an infant with a severe and fatal course of the disease.

Gos M, Smigiel R, Kaczan T, Landowska A, Abramowicz A, Sasiadek M, Bal J. Gos M, et al. Among authors: smigiel r. Am J Med Genet A. 2018 Jul;176(7):1670-1674. doi: 10.1002/ajmg.a.38837. Epub 2018 May 25. Am J Med Genet A. 2018. PMID: 29799162

2

Microsatellite and chromosome instability in squamous cell laryngeal carcinoma.

Sasiadek M, Stembalska-Kozlowska A, Smigiel R, Krecicki T, Blin N, Mirghomizadeh F. Sasiadek M, et al. Among authors: smigiel r. Int J Oncol. 2001 Aug;19(2):401-5. doi: 10.3892/ijo.19.2.401. Int J Oncol. 2001. PMID: 11445859

3

Impairment of MLH1 and CDKN2A in oncogenesis of laryngeal cancer.

Sasiadek MM, Stembalska-Kozlowska A, Smigiel R, Ramsey D, Kayademir T, Blin N. Sasiadek MM, et al. Among authors: smigiel r. Br J Cancer. 2004 Apr 19;90(8):1594-9. doi: 10.1038/sj.bjc.6601679. Br J Cancer. 2004. PMID: 15083191 Free PMC article.

4

Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an approximately 5 Mb deletion del(11)(q24.3).

Bernaciak J, Szczałuba K, Derwińska K, Wiśniowiecka-Kowalnik B, Bocian E, Sasiadek MM, Makowska I, Stankiewicz P, Smigiel R. Bernaciak J, et al. Among authors: smigiel r. Am J Med Genet A. 2008 Oct 1;146A(19):2449-54. doi: 10.1002/ajmg.a.32490. Am J Med Genet A. 2008. PMID: 18792974

5

Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature.

Smigiel R, Jakubiak A, Esteves-Vieira V, Szela K, Halon A, Jurek T, Lévy N, De Sandre-Giovannoli A. Smigiel R, et al. Am J Med Genet A. 2010 Feb;152A(2):447-52. doi: 10.1002/ajmg.a.33221. Am J Med Genet A. 2010. PMID: 20101687

6

Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature.

Smigiel R, Jakubiak A, Lombardi MP, Jaworski W, Slezak R, Patkowski D, Hennekam RC. Smigiel R, et al. Am J Med Genet A. 2011 May;155A(5):1102-5. doi: 10.1002/ajmg.a.33895. Epub 2011 Apr 11. Am J Med Genet A. 2011. PMID: 21484999 Review.

7

Normal exon copy number of the GLI2 and GLI3 genes in patients with esophageal atresia.

Bednarczyk D, Smigiel R, Patkowski D, Laczmanska I, Lebioda A, Laczmanski L, Sasiadek MM. Bednarczyk D, et al. Among authors: smigiel r. Dis Esophagus. 2013 Sep-Oct;26(7):678-81. doi: 10.1111/dote.12036. Epub 2013 Feb 26. Dis Esophagus. 2013. PMID: 23442119

8

Alternations in genes expression of pathway signaling in esophageal tissue with atresia: results of expression microarray profiling.

Smigiel R, Lebioda A, Blaszczyński M, Korecka K, Czauderna P, Korlacki W, Jakubiak A, Bednarczyk D, Maciejewski H, Wizinska P, Sasiadek MM, Patkowski D. Smigiel R, et al. Dis Esophagus. 2015 Apr;28(3):229-33. doi: 10.1111/dote.12173. Epub 2014 Jan 27. Dis Esophagus. 2015. PMID: 24460849

9

Further evidence for GRIN2B mutation as the cause of severe epileptic encephalopathy.

Smigiel R, Kostrzewa G, Kosinska J, Pollak A, Stawinski P, Szmida E, Bloch M, Szymanska K, Karpinski P, Sasiadek MM, Ploski R. Smigiel R, et al. Am J Med Genet A. 2016 Dec;170(12):3265-3270. doi: 10.1002/ajmg.a.37887. Epub 2016 Sep 8. Am J Med Genet A. 2016. PMID: 27605359

10

A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family.

Jurkiewicz D, Kugaudo M, Skórka A, Śmigiel R, Smyk M, Ciara E, Chrzanowska K, Krajewska-Walasek M. Jurkiewicz D, et al. Among authors: smigiel r. Am J Med Genet A. 2017 Jan;173(1):72-78. doi: 10.1002/ajmg.a.37964. Epub 2016 Sep 9. Am J Med Genet A. 2017. PMID: 27612309

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