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BMPR1B gene in brachydactyly type 2-A family with de novo R486W mutation and a disease phenotype.
Bednarek M, Trybus M, Kolanowska M, Koziej M, Kiec-Wilk B, Dobosz A, Kotlarek-Łysakowska M, Kubiak-Dydo A, Użarowska-Gąska E, Staręga-Rosłan J, Gaj P, Górzyńska I, Serwan K, Świerniak M, Kot A, Jażdżewski K, Wójcicka A. Bednarek M, et al. Among authors: swierniak m. Mol Genet Genomic Med. 2021 Mar;9(3):e1594. doi: 10.1002/mgg3.1594. Epub 2021 Jan 24. Mol Genet Genomic Med. 2021. PMID: 33486847 Free PMC article.
Compound Haplotype Variants in CFH and CD46 Genes Determine Clinical Outcome of Atypical Hemolytic Uremic Syndrome (aHUS)-A Series of Cases from a Single Family.
Furmańczyk-Zawiska A, Kubiak-Dydo A, Użarowska-Gąska E, Kotlarek-Łysakowska M, Salata K, Kolanowska M, Świerniak M, Gaj P, Leszczyńska B, Daniel M, Jażdżewski K, Durlik M, Wójcicka A. Furmańczyk-Zawiska A, et al. Among authors: swierniak m. J Pers Med. 2021 Apr 15;11(4):304. doi: 10.3390/jpm11040304. J Pers Med. 2021. PMID: 33920896 Free PMC article.
Variants in the ATM-CHEK2-BRCA1 axis determine genetic predisposition and clinical presentation of papillary thyroid carcinoma.
Wójcicka A, Czetwertyńska M, Świerniak M, Długosińska J, Maciąg M, Czajka A, Dymecka K, Kubiak A, Kot A, Płoski R, de la Chapelle A, Jażdżewski K. Wójcicka A, et al. Among authors: swierniak m. Genes Chromosomes Cancer. 2014 Jun;53(6):516-23. doi: 10.1002/gcc.22162. Epub 2014 Mar 6. Genes Chromosomes Cancer. 2014. PMID: 24599715 Free PMC article.
The rs2910164 Genetic Variant of miR-146a-3p Is Associated with Increased Overall Mortality in Patients with Follicular Variant Papillary Thyroid Carcinoma.
Kotlarek M, Kubiak A, Czetwertyńska M, Świerniak M, Gierlikowski W, Kolanowska M, Bakuła-Zalewska E, Jhiang SM, Jażdżewski K, Wójcicka A. Kotlarek M, et al. Among authors: swierniak m. Int J Mol Sci. 2018 Feb 26;19(3):655. doi: 10.3390/ijms19030655. Int J Mol Sci. 2018. PMID: 29495389 Free PMC article.
27 results