Smigiel R - Search Results

1

Expression Quantitative Trait Methylation Analysis Identifies Whole Blood Molecular Footprint in Fetal Alcohol Spectrum Disorder (FASD).

Krzyzewska IM, Lauffer P, Mul AN, van der Laan L, Yim AYFL, Cobben JM, Niklinski J, Chomczyk MA, Smigiel R, Mannens MMAM, Henneman P. Krzyzewska IM, et al. Among authors: smigiel r. Int J Mol Sci. 2023 Apr 1;24(7):6601. doi: 10.3390/ijms24076601. Int J Mol Sci. 2023. PMID: 37047575 Free PMC article.

2

[Difficult therapeutic decision making in treatment of children with oesophageal atresia and trisomy of chromosome 18 - comments by geneticist, surgeon, neonatologist, paediatrician and anaesthesiologist].

Smigiel R, Patkowski D, Pyrek B, Zielińska M, Gołebiowski W, Czyzewska M, Szmyd K, Sasiadek MM. Smigiel R, et al. Med Wieku Rozwoj. 2011 Jan-Mar;15(1):7-15. Med Wieku Rozwoj. 2011. PMID: 21786507 Polish.

3

Pan-european landscape of research into neurodevelopmental copy number variants: A survey by the MINDDS consortium.

Chawner SJRA, Mihaljevic M, Morrison S, Eser HY, Maillard AM, Nowakowska B; MINDDS Consortium; van den Bree MBM, Swillen A. Chawner SJRA, et al. Eur J Med Genet. 2020 Dec;63(12):104093. doi: 10.1016/j.ejmg.2020.104093. Epub 2020 Nov 5. Eur J Med Genet. 2020. PMID: 33160096 Free article.

4

Oesophageal atresia with tracheoesophageal fistula and anal atresia in a patient with a de novo microduplication in 17q12.

Smigiel R, Marcelis C, Patkowski D, de Leeuw N, Bednarczyk D, Barg E, Mascianica K, Maria Sasiadek M, Brunner H. Smigiel R, et al. Eur J Med Genet. 2014 Jan;57(1):40-3. doi: 10.1016/j.ejmg.2013.10.007. Epub 2013 Nov 12. Eur J Med Genet. 2014. PMID: 24239950

5

[Multiplex Ligation - dependent Probe Amplification (MLPA) as a screening test in children with developmental defects and intellectual disability of unknown etiology].

Laczmańska I, Jakubiak A, Slęzak R, Pesz K, Stembalska A, Laczmański L, Sąsiadek MM, Smigiel R. Laczmańska I, et al. Among authors: smigiel r. Med Wieku Rozwoj. 2011 Apr-Jun;15(2):132-9. Med Wieku Rozwoj. 2011. PMID: 22002044 Polish.

6

Changing facial features in a child with GAPO syndrome caused by novel mutation in the ANTXR1 gene and uniparental disomy of chromosome 2.

Smigiel R, Rozensztrauch A, Walczak A, Rydzanicz M, Stawinski P, Berghausen-Mazur M, Kostrzewa G, Sasiadek M, Ploski R. Smigiel R, et al. Clin Dysmorphol. 2019 Oct;28(4):211-214. doi: 10.1097/MCD.0000000000000292. Clin Dysmorphol. 2019. PMID: 31425299 No abstract available.

7

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

Carapito R, Ivanova EL, Morlon A, Meng L, Molitor A, Erdmann E, Kieffer B, Pichot A, Naegely L, Kolmer A, Paul N, Hanauer A, Tran Mau-Them F, Jean-Marçais N, Hiatt SM, Cooper GM, Tvrdik T, Muir AM, Dimartino C, Chopra M, Amiel J, Gordon CT, Dutreux F, Garde A, Thauvin-Robinet C, Wang X, Leduc MS, Phillips M, Crawford HP, Kukolich MK, Hunt D, Harrison V, Kharbanda M; Deciphering Developmental Disorders Study; University of Washington Center for Mendelian Genomics; Smigiel R, Gold N, Hung CY, Viskochil DH, Dugan SL, Bayrak-Toydemir P, Joly-Helas G, Guerrot AM, Schluth-Bolard C, Rio M, Wentzensen IM, McWalter K, Schnur RE, Lewis AM, Lalani SR, Mensah-Bonsu N, Céraline J, Sun Z, Ploski R, Bacino CA, Mefford HC, Faivre L, Bodamer O, Chelly J, Isidor B, Bahram S. Carapito R, et al. Among authors: smigiel r. Am J Hum Genet. 2020 Jan 2;106(1):137. doi: 10.1016/j.ajhg.2019.11.014. Epub 2019 Dec 24. Am J Hum Genet. 2020. PMID: 31879022 Free PMC article. No abstract available.

8

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.

Assia Batzir N, Kishor Bhagwat P, Larson A, Coban Akdemir Z, Bagłaj M, Bofferding L, Bosanko KB, Bouassida S, Callewaert B, Cannon A, Enchautegui Colon Y, Garnica AD, Harr MH, Heck S, Hurst ACE, Jhangiani SN, Isidor B, Littlejohn RO, Liu P, Magoulas P, Mar Fan H, Marom R, McLean S, Nezarati MM, Nugent KM, Petersen MB, Rocha ML, Roeder E, Smigiel R, Tully I, Weisfeld-Adams J, Wells KO; Baylor-Hopkins Center for Mendelian Genomics; Posey JE, Lupski JR, Beaudet AL, Wangler MF. Assia Batzir N, et al. Among authors: smigiel r. Hum Mutat. 2020 Mar;41(3):641-654. doi: 10.1002/humu.23960. Epub 2019 Dec 19. Hum Mutat. 2020. PMID: 31769566 Free PMC article.

9

[Diagnostic difficulties in Smith-Magenis Syndrome (SMS) on the basis of own experience and literature data].

Stembalska A, Jakubiak A, Śmigiel R. Stembalska A, et al. Among authors: smigiel r. Med Wieku Rozwoj. 2012 Apr-Jun;16(2):138-43. Med Wieku Rozwoj. 2012. PMID: 22971658 Review. Polish.

10

Migraine and Stroke: What's the Link? What to Do?

Gryglas A, Smigiel R. Gryglas A, et al. Among authors: smigiel r. Curr Neurol Neurosci Rep. 2017 Mar;17(3):22. doi: 10.1007/s11910-017-0729-y. Curr Neurol Neurosci Rep. 2017. PMID: 28283957 Free PMC article. Review.

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