Gos M - 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. 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

Correction to: Splicing mutations in human genetic disorders: examples, detection, and confirmation.

Abramowicz A, Gos M. Abramowicz A, et al. Among authors: gos m. J Appl Genet. 2019 May;60(2):231. doi: 10.1007/s13353-019-00493-z. J Appl Genet. 2019. PMID: 30888641 Free PMC article.

3

Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity.

Gos M, Fahiminiya S, Poznański J, Klapecki J, Obersztyn E, Piotrowicz M, Wierzba J, Posmyk R, Bal J, Majewski J. Gos M, et al. Am J Med Genet A. 2014 Sep;164A(9):2310-6. doi: 10.1002/ajmg.a.36646. Epub 2014 Jun 17. Am J Med Genet A. 2014. PMID: 24939608 No abstract available.

4

Neurofibromin in neurofibromatosis type 1 - mutations in NF1gene as a cause of disease.

Abramowicz A, Gos M. Abramowicz A, et al. Among authors: gos m. Dev Period Med. 2014 Jul-Sep;18(3):297-306. Dev Period Med. 2014. PMID: 25182393 Review.

5

Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.

Yamamoto GL, Aguena M, Gos M, Hung C, Pilch J, Fahiminiya S, Abramowicz A, Cristian I, Buscarilli M, Naslavsky MS, Malaquias AC, Zatz M, Bodamer O, Majewski J, Jorge AA, Pereira AC, Kim CA, Passos-Bueno MR, Bertola DR. Yamamoto GL, et al. Among authors: gos m. J Med Genet. 2015 Jun;52(6):413-21. doi: 10.1136/jmedgenet-2015-103018. Epub 2015 Mar 20. J Med Genet. 2015. PMID: 25795793

6

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.

7

Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3.

Kutkowska-Kaźmierczak A, Boczar M, Kalka E, Castañeda J, Klapecki J, Pietrzyk A, Barczyk A, Malinowska O, Landowska A, Gambin T, Kowalczyk K, Wiśniowiecka-Kowalnik B, Smyk M, Dawidziuk M, Niepokój K, Paczkowska M, Szyld P, Lipska-Ziętkiewicz B, Szczałuba K, Kostyk E, Runge A, Rutkowska K, Płoski R, Nowakowska B, Bal J, Obersztyn E, Gos M. Kutkowska-Kaźmierczak A, et al. Among authors: gos m. Genes (Basel). 2021 Aug 17;12(8):1257. doi: 10.3390/genes12081257. Genes (Basel). 2021. PMID: 34440431 Free PMC article.

8

The power of the Mediator complex-Expanding the genetic architecture and phenotypic spectrum of MED12-related disorders.

Charzewska A, Maiwald R, Kahrizi K, Oehl-Jaschkowitz B, Dufke A, Lemke JR, Enders H, Najmabadi H, Tzschach A, Hachmann W, Jensen C, Bienek M, Poznański J, Nawara M, Chilarska T, Obersztyn E, Hoffman-Zacharska D, Gos M, Bal J, Kalscheuer VM. Charzewska A, et al. Among authors: gos m. Clin Genet. 2018 Nov;94(5):450-456. doi: 10.1111/cge.13412. Epub 2018 Aug 9. Clin Genet. 2018. PMID: 30006928

9

Genetic analysis in inherited metabolic disorders--from diagnosis to treatment. Own experience, current state of knowledge and perspectives.

Wertheim-Tysarowska K, Gos M, Sykut-Cegielska J, Bal J. Wertheim-Tysarowska K, et al. Among authors: gos m. Dev Period Med. 2015 Oct-Dec;19(4):413-31. Dev Period Med. 2015. PMID: 26982749 Review.

10

Towards a Better Molecular Diagnosis of FMR1-Related Disorders-A Multiyear Experience from a Reference Lab.

Rzońca SO, Gos M, Szopa D, Sielska-Rotblum D, Landowska A, Szpecht-Potocka A, Milewski M, Czekajska J, Abramowicz A, Obersztyn E, Maciejko D, Mazurczak T, Bal J. Rzońca SO, et al. Among authors: gos m. Genes (Basel). 2016 Sep 2;7(9):59. doi: 10.3390/genes7090059. Genes (Basel). 2016. PMID: 27598204 Free PMC article.

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