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Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes-Challenges for the Accurate Diagnosis.
Walczak-Sztulpa J, Wawrocka A, Doornbos C, van Beek R, Sowińska-Seidler A, Jamsheer A, Bukowska-Olech E, Latos-Bieleńska A, Grenda R, Bongers EMHF, Schmidts M, Obersztyn E, Krawczyński MR, Oud MM. Walczak-Sztulpa J, et al. Among authors: grenda r. Front Genet. 2022 Jul 7;13:931822. doi: 10.3389/fgene.2022.931822. eCollection 2022. Front Genet. 2022. PMID: 35873489 Free PMC article.
Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.
Walczak-Sztulpa J, Wawrocka A, Sobierajewicz A, Kuszel L, Zawadzki J, Grenda R, Swiader-Lesniak A, Kocyla-Karczmarewicz B, Wnuk A, Latos-Bielenska A, Chrzanowska KH. Walczak-Sztulpa J, et al. Among authors: grenda r. Am J Med Genet A. 2017 May;173(5):1364-1368. doi: 10.1002/ajmg.a.38163. Epub 2017 Mar 23. Am J Med Genet A. 2017. PMID: 28332779
Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35.
Walczak-Sztulpa J, Wawrocka A, Stańczyk M, Pesz K, Dudarewicz L, Chrul S, Bukowska-Olech E, Wieczorek-Cichecka N, Arts HH, Oud MM, Śmigiel R, Grenda R, Obersztyn E, Chrzanowska KH, Latos-Bieleńska A. Walczak-Sztulpa J, et al. Among authors: grenda r. Am J Med Genet A. 2021 Apr;185(4):1195-1203. doi: 10.1002/ajmg.a.62067. Epub 2021 Jan 9. Am J Med Genet A. 2021. PMID: 33421337
WDR35 variants in a cranioectodermal dysplasia patient with early onset end-stage renal disease and retinal dystrophy.
Walczak-Sztulpa J, Wawrocka A, Sikora W, Pawlak M, Bukowska-Olech E, Kopaczewski B, Urzykowska A, Arts HH, Gotz-Więckowska A, Grenda R, Latos-Bieleńska A, Glazar R. Walczak-Sztulpa J, et al. Among authors: grenda r. Am J Med Genet A. 2022 Oct;188(10):3071-3077. doi: 10.1002/ajmg.a.62903. Epub 2022 Jul 25. Am J Med Genet A. 2022. PMID: 35875935
Occurrence of Portal Hypertension and Its Clinical Course in Patients With Molecularly Confirmed Autosomal Recessive Polycystic Kidney Disease (ARPKD).
Wicher D, Grenda R, Teisseyre M, Szymczak M, Halat-Wolska P, Jurkiewicz D, Liebau MC, Ciara E, Rydzanicz M, Kosińska J, Chrzanowska K, Jankowska I. Wicher D, et al. Among authors: grenda r. Front Pediatr. 2020 Nov 12;8:591379. doi: 10.3389/fped.2020.591379. eCollection 2020. Front Pediatr. 2020. PMID: 33282801 Free PMC article.
Successful treatment of a child with fulminant liver failure and coma caused by Amanita phalloides intoxication with albumin dialysis without liver transplantation.
Rubik J, Pietraszek-Jezierska E, Kamiński A, Skarzynska A, Jóźwiak S, Pawłowska J, Drewniak T, Prokurat S, Grenda R, Kaliciński P. Rubik J, et al. Among authors: grenda r. Pediatr Transplant. 2004 Jun;8(3):295-300. doi: 10.1111/j.1399-3046.2004.00170.x. Pediatr Transplant. 2004. PMID: 15176968
170 results