Tryfon J - Search Results

1

Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family.

Nawara M, Klapecki J, Borg K, Jurek M, Moreno S, Tryfon J, Bal J, Chelly J, Mazurczak T. Nawara M, et al. Among authors: tryfon j. Am J Med Genet A. 2008 Dec 15;146A(24):3167-72. doi: 10.1002/ajmg.a.32613. Am J Med Genet A. 2008. PMID: 19012350

2

Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid.

Derwińska K, Mierzewska H, Goszczańska A, Szczepanik E, Xia Z, Kuśmierska K, Tryfon J, Kutkowska-Kaźmierczak A, Bocian E, Mazurczak T, Obersztyn E, Stankiewicz P. Derwińska K, et al. Among authors: tryfon j. Am J Med Genet B Neuropsychiatr Genet. 2012 Mar;159B(2):236-42. doi: 10.1002/ajmg.b.32020. Epub 2012 Jan 5. Am J Med Genet B Neuropsychiatr Genet. 2012. PMID: 22223473

3

Glucose transporter type 1 deficiency due to SLC2A1 gene mutations--a rare but treatable cause of metabolic epilepsy and extrapyramidal movement disorder; own experience and literature review.

Szczepanik E, Terczyńska I, Kruk M, Lipiec A, Dudko E, Tryfon J, Jurek M, Hoffman-Zacharska D. Szczepanik E, et al. Among authors: tryfon j. Dev Period Med. 2015 Oct-Dec;19(4):454-63. Dev Period Med. 2015. PMID: 26982753 Review.

4

The analysis of genetic aberrations in children with inherited neurometabolic and neurodevelopmental disorders.

Szymańska K, Szczałuba K, Lugowska A, Obersztyn E, Radkowski M, Nowakowska BA, Kuśmierska K, Tryfon J, Demkow U. Szymańska K, et al. Among authors: tryfon j. Biomed Res Int. 2014;2014:424796. doi: 10.1155/2014/424796. Epub 2014 May 13. Biomed Res Int. 2014. PMID: 24949445 Free PMC article.

5

Nijmegen breakage syndrome with macrocephaly, schizencephaly and large CSF spaces—extended spectrum of the condition.

Szczałuba K, Mierzewska H, Obersztyn E, Tryfon J, Bekiesińska-Figatowska M, Szczepanik E, Chrzanowska K, Bocian E. Szczałuba K, et al. Among authors: tryfon j. J Appl Genet. 2012 May;53(2):189-91. doi: 10.1007/s13353-012-0084-2. J Appl Genet. 2012. PMID: 22293976 No abstract available.

6

Aicardi-Goutières Syndrome due to a SAMHD1 Mutation Presenting with Deep White Matter Cysts.

Oleksy B, Mierzewska H, Tryfon J, Wypchło M, Wasilewska K, Zalewska-Miszkurka Z, Płoski R, Rydzanicz M, Szczepanik E. Oleksy B, et al. Among authors: tryfon j. Mol Syndromol. 2022 Feb;13(2):132-138. doi: 10.1159/000518941. Epub 2021 Nov 18. Mol Syndromol. 2022. PMID: 35418820 Free PMC article.

7

Intrathecal Infusion of Autologous Adipose-Derived Regenerative Cells in Autoimmune Refractory Epilepsy: Evaluation of Safety and Efficacy.

Szczepanik E, Mierzewska H, Antczak-Marach D, Figiel-Dabrowska A, Terczynska I, Tryfon J, Krzesniak N, Noszczyk BH, Sawicka E, Domanska-Janik K, Sarnowska A. Szczepanik E, et al. Among authors: tryfon j. Stem Cells Int. 2020 Jan 3;2020:7104243. doi: 10.1155/2020/7104243. eCollection 2020. Stem Cells Int. 2020. PMID: 32190059 Free PMC article.

8

Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up.

Kusmierska K, Jansen EE, Jakobs C, Szymanska K, Malunowicz E, Meilei D, Thony B, Blau N, Tryfon J, Rokicki D, Pronicka E, Sykut-Cegielska J. Kusmierska K, et al. Among authors: tryfon j. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S5-10. doi: 10.1007/s10545-008-1009-4. Epub 2009 Jan 7. J Inherit Metab Dis. 2009. PMID: 19130291

9

[Vascular ischemic dementia].

Jedrzejowska H, Dobrzyńska J, Holak-Puczyńska A, Sieklicka D, Tryfon J, Pietrzykowska I, Desperat M, Bogumił B. Jedrzejowska H, et al. Among authors: tryfon j. Neurol Neurochir Pol. 1998 Mar-Apr;32(2):243-54. Neurol Neurochir Pol. 1998. PMID: 9760544 Polish.

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