Rydzanicz M - Search Results

1

DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration.

Vig A, Poulter JA, Ottaviani D, Tavares E, Toropova K, Tracewska AM, Mollica A, Kang J, Kehelwathugoda O, Paton T, Maynes JT, Wheway G, Arno G; Genomics England Research Consortium; Khan KN, McKibbin M, Toomes C, Ali M, Di Scipio M, Li S, Ellingford J, Black G, Webster A, Rydzanicz M, Stawiński P, Płoski R, Vincent A, Cheetham ME, Inglehearn CF, Roberts A, Heon E. Vig A, et al. Among authors: rydzanicz m. Genet Med. 2020 Dec;22(12):2041-2051. doi: 10.1038/s41436-020-0915-1. Epub 2020 Aug 5. Genet Med. 2020. PMID: 32753734 Free PMC article.

2

Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.

Mierzewska H, Rydzanicz M, Biegański T, Kosinska J, Mierzewska-Schmidt M, Ługowska A, Pollak A, Stawiński P, Walczak A, Kędra A, Obersztyn E, Szczepanik E, Płoski R. Mierzewska H, et al. Among authors: rydzanicz m. Clin Genet. 2017 Jan;91(1):30-37. doi: 10.1111/cge.12792. Epub 2016 Jun 2. Clin Genet. 2017. PMID: 27102849

3

Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease.

Lenk GM, Szymanska K, Debska-Vielhaber G, Rydzanicz M, Walczak A, Bekiesinska-Figatowska M, Vielhaber S, Hallmann K, Stawinski P, Buehring S, Hsu DA, Kunz WS, Meisler MH, Ploski R. Lenk GM, et al. Among authors: rydzanicz m. Am J Hum Genet. 2016 Jul 7;99(1):188-94. doi: 10.1016/j.ajhg.2016.05.008. Epub 2016 Jun 9. Am J Hum Genet. 2016. PMID: 27292112 Free PMC article.

4

SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression.

Szczałuba K, Brzezinska M, Kot J, Rydzanicz M, Walczak A, Stawiński P, Werner B, Płoski R. Szczałuba K, et al. Among authors: rydzanicz m. Am J Med Genet A. 2016 Sep;170(9):2322-7. doi: 10.1002/ajmg.a.37832. Epub 2016 Jul 4. Am J Med Genet A. 2016. PMID: 27375234 Review.

5

Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy.

Ploski R, Rydzanicz M, Ksiazczyk TM, Franaszczyk M, Pollak A, Kosinska J, Michalak E, Stawinski P, Ziolkowska L, Bilinska ZT, Werner B. Ploski R, et al. Among authors: rydzanicz m. Am J Med Genet A. 2016 Dec;170(12):3241-3248. doi: 10.1002/ajmg.a.37860. Epub 2016 Sep 8. Am J Med Genet A. 2016. PMID: 27604170 Review.

6

Isolated Hearing Impairment Caused by SPATA5 Mutations in a Family with Variable Phenotypic Expression.

Szczałuba K, Szymańska K, Kosińska J, Pollak A, Murcia V, Kędra A, Stawiński P, Rydzanicz M, Demkow U, Płoski R. Szczałuba K, et al. Among authors: rydzanicz m. Adv Exp Med Biol. 2017;980:59-66. doi: 10.1007/5584_2016_206. Adv Exp Med Biol. 2017. PMID: 28293831

7

Mild Zellweger syndrome due to a novel PEX6 mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicity.

Rydzanicz M, Stradomska TJ, Jurkiewicz E, Jamroz E, Gasperowicz P, Kostrzewa G, Płoski R, Tylki-Szymańska A. Rydzanicz M, et al. J Appl Genet. 2017 Nov;58(4):475-480. doi: 10.1007/s13353-017-0414-5. Epub 2017 Oct 18. J Appl Genet. 2017. PMID: 29047053

8

New evidence for association of recessive IARS gene mutations with hepatopathy, hypotonia, intellectual disability and growth retardation.

Smigiel R, Biela M, Biernacka A, Stembalska A, Sasiadek M, Kosinska J, Rydzanicz M, Ploski R. Smigiel R, et al. Among authors: rydzanicz m. Clin Genet. 2017 Dec;92(6):671-673. doi: 10.1111/cge.13080. Epub 2017 Oct 19. Clin Genet. 2017. PMID: 29052218 No abstract available.

9

Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: Clinical report and literature review.

Szczałuba K, Biernacka A, Szymańska K, Gasperowicz P, Kosińska J, Rydzanicz M, Płoski R. Szczałuba K, et al. Among authors: rydzanicz m. Eur J Med Genet. 2018 Mar;61(3):157-160. doi: 10.1016/j.ejmg.2017.11.010. Epub 2017 Nov 23. Eur J Med Genet. 2018. PMID: 29174093 Review.

10

A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa.

Szczałuba K, Szymańska K, Rydzanicz M, Ciara E, Walczak A, Piekutowska-Abramczuk D, Kosińska J, Jacoszek A, Czerska K, Biernacka A, Laure-Kamionowska M, Gasperowicz P, Pronicka E, Płoski R. Szczałuba K, et al. Among authors: rydzanicz m. Clin Genet. 2018 May;93(5):1107-1108. doi: 10.1111/cge.13133. Epub 2017 Dec 15. Clin Genet. 2018. PMID: 29243232

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

186 results

Search Page