Gos M - Search Results

1

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. Among authors: gos m. Muscle Nerve. 2019 Jan;59(1):129-133. doi: 10.1002/mus.26346. Epub 2018 Oct 26. Muscle Nerve. 2019. PMID: 30230566

2

Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects.

Punetha J, Kesari A, Hoffman EP, Gos M, Kamińska A, Kostera-Pruszczyk A, Hausmanowa-Petrusewicz I, Hu Y, Zou Y, Bönnemann CG, JȨdrzejowska M. Punetha J, et al. Among authors: gos m. Muscle Nerve. 2017 Feb;55(2):277-281. doi: 10.1002/mus.25232. Epub 2016 Nov 30. Muscle Nerve. 2017. PMID: 27348394 Free PMC article.

3

Novel point mutations in survival motor neuron 1 gene expand the spectrum of phenotypes observed in spinal muscular atrophy patients.

Jędrzejowska M, Gos M, Zimowski JG, Kostera-Pruszczyk A, Ryniewicz B, Hausmanowa-Petrusewicz I. Jędrzejowska M, et al. Among authors: gos m. Neuromuscul Disord. 2014 Jul;24(7):617-23. doi: 10.1016/j.nmd.2014.04.003. Epub 2014 Apr 24. Neuromuscul Disord. 2014. PMID: 24844453

4

Floppy infant syndrome as a first manifestation of LMNA-related congenital muscular dystrophy.

Jędrzejowska M, Potulska-Chromik A, Gos M, Gambin T, Dębek E, Rosiak E, Stępień A, Szymańczak R, Wojtaś B, Gielniewski B, Ciara E, Sobczyńska A, Chrzanowska K, Kostera-Pruszczyk A, Madej-Pilarczyk A. Jędrzejowska M, et al. Among authors: gos m. Eur J Paediatr Neurol. 2021 May;32:115-121. doi: 10.1016/j.ejpn.2021.04.005. Epub 2021 Apr 20. Eur J Paediatr Neurol. 2021. PMID: 33940562

5

Case Report: Further Delineation of Neurological Symptoms in Young Children Caused by Compound Heterozygous Mutation in the PIEZO2 Gene.

Klaniewska M, Jedrzejowska M, Rydzanicz M, Paprocka J, Biela M, Wolanska E, Pollak A, Debek E, Sasiadek M, Ploski R, Gos M, Smigiel R. Klaniewska M, et al. Among authors: gos m. Front Genet. 2021 Apr 28;12:620752. doi: 10.3389/fgene.2021.620752. eCollection 2021. Front Genet. 2021. PMID: 33995476 Free PMC article.

6

Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells.

Jędrzejowska M, Madej-Pilarczyk A, Fidziańska A, Mierzewska H, Pronicka E, Obersztyn E, Gos M, Pronicki M, Kmieć T, Migdał M, Mierzewska-Schmidt M, Walczak-Wojtkowska I, Konopka E, Hausmanowa-Petrusewicz I. Jędrzejowska M, et al. Among authors: gos m. Eur J Paediatr Neurol. 2014 Mar;18(2):183-92. doi: 10.1016/j.ejpn.2013.11.006. Epub 2013 Dec 15. Eur J Paediatr Neurol. 2014. PMID: 24388491

7

Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.

Potulska-Chromik A, Jędrzejowska M, Gos M, Rosiak E, Kierdaszuk B, Maruszak A, Opuchlik A, Zekanowski C, Fichna JP. Potulska-Chromik A, et al. Among authors: gos m. J Clin Med. 2021 Feb 26;10(5):914. doi: 10.3390/jcm10050914. J Clin Med. 2021. PMID: 33652732 Free PMC article.

8

The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981*).

Dawidziuk M, Kutkowska-Kaźmierczak A, Gawliński P, Wiszniewski W, Gos M, Stawiński P, Rydzanicz M, Kosińska J, Własienko P, Malinowska Kordowska O, Bartnik-Głaska M, Bernaciak J, Szczałuba K, Bekiesińska-Figatowska M, Płoski R, Bal J, Olimpia Rzońca-Niewczas S. Dawidziuk M, et al. Among authors: gos m. J Mother Child. 2021 Apr 30;24(3):32-36. doi: 10.34763/jmotherandchild.20202403.2021.d-20-00003. J Mother Child. 2021. PMID: 33930262 Free PMC article.

9

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. 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

10

Bullous diseases caused by KRT1 gene mutations: from epidermolytic hyperkeratosis to a novel variant of epidermolysis bullosa simplex.

Osipowicz K, Wertheim-Tysarowska K, Kwiek B, Jankowska E, Gos M, Charzewska A, Woźniak K, Kowalewski C. Osipowicz K, et al. Among authors: gos m. Postepy Dermatol Alergol. 2021 Dec;38(6):1032-1038. doi: 10.5114/ada.2020.98564. Epub 2020 Sep 2. Postepy Dermatol Alergol. 2021. PMID: 35126011 Free PMC article.

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