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Page 1
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
Yuan B, Neira J, Pehlivan D, Santiago-Sim T, Song X, Rosenfeld J, Posey JE, Patel V, Jin W, Adam MP, Baple EL, Dean J, Fong CT, Hickey SE, Hudgins L, Leon E, Madan-Khetarpal S, Rawlins L, Rustad CF, Stray-Pedersen A, Tveten K, Wenger O, Diaz J, Jenkins L, Martin L, McGuire M, Pietryga M, Ramsdell L, Slattery L; DDD Study; Abid F, Bertuch AA, Grange D, Immken L, Schaaf CP, Van Esch H, Bi W, Cheung SW, Breman AM, Smith JL, Shaw C, Crosby AH, Eng C, Yang Y, Lupski JR, Xiao R, Liu P. Yuan B, et al. Among authors: pietryga m. Genet Med. 2019 Mar;21(3):663-675. doi: 10.1038/s41436-018-0085-6. Epub 2018 Aug 30. Genet Med. 2019. PMID: 30158690 Free PMC article.
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.
Palmer EE, Stuhlmann T, Weinert S, Haan E, Van Esch H, Holvoet M, Boyle J, Leffler M, Raynaud M, Moraine C, van Bokhoven H, Kleefstra T, Kahrizi K, Najmabadi H, Ropers HH, Delgado MR, Sirsi D, Golla S, Sommer A, Pietryga MP, Chung WK, Wynn J, Rohena L, Bernardo E, Hamlin D, Faux BM, Grange DK, Manwaring L, Tolmie J, Joss S; DDD Study; Cobben JM, Duijkers FAM, Goehringer JM, Challman TD, Hennig F, Fischer U, Grimme A, Suckow V, Musante L, Nicholl J, Shaw M, Lodh SP, Niu Z, Rosenfeld JA, Stankiewicz P, Jentsch TJ, Gecz J, Field M, Kalscheuer VM. Palmer EE, et al. Among authors: pietryga mp. Mol Psychiatry. 2018 Feb;23(2):222-230. doi: 10.1038/mp.2016.135. Epub 2016 Aug 23. Mol Psychiatry. 2018. PMID: 27550844 Free PMC article.
Recommendations for prenatal diagnostics of the Polish Society of Gynaecologists and Obstetricians and the Polish Society of Human Genetics.
Sieroszewski P, Haus O, Zimmer M, Wielgos M, Latos-Bielenska A, Borowiec M, Borowski D, Cnota W, Czuba B, Dubiel M, Jakubowski L, Janiak K, Kaczmarek P, Kwiatkowski S, Nowakowska B, Pietryga M, Piotrowski K, Preis K, Ropacka-Lesiak M, Sasiadek MM, Swiatkowska-Freud M, Wegrzyn P, Wloch A, Moczulska H. Sieroszewski P, et al. Among authors: pietryga m. Ginekol Pol. 2022;93(5):427-437. doi: 10.5603/GP.a2021.0255. Epub 2022 Mar 22. Ginekol Pol. 2022. PMID: 35315029 Free article. No abstract available.
Can redox imbalance predict abnormal foetal development?
Pietryga M, Tobola-Wrobel K, Dydowicz P, Ziolkowska K, Napierala M, Florek E, Brazert J. Pietryga M, et al. Ginekol Pol. 2022;93(3):209-216. doi: 10.5603/GP.a2021.0122. Epub 2022 Jan 24. Ginekol Pol. 2022. PMID: 35072234 Free article.
How mother's obesity may affect the pregnancy and offspring.
Radzicka-Mularczyk SA, Pietryga M, Brazert J. Radzicka-Mularczyk SA, et al. Among authors: pietryga m. Ginekol Pol. 2020;91(12):769-772. doi: 10.5603/GP.2020.0116. Ginekol Pol. 2020. PMID: 33447997 Free article.
The significance of maternal blood pregnancy-associated plasma protein A (PAPP-A) and free beta-subunit of human chorionic gonadotropin (β-hCG) levels for the risk assessment of fetal trisomy 18 during the first prenatal testing between 11 and 13+6 weeks of pregnancy.
Ziolkowska K, Tobola-Wrobel K, Dydowicz P, Zurawski S, Pietryga M, Wysocka E. Ziolkowska K, et al. Among authors: pietryga m. Ginekol Pol. 2020;91(12):748-754. doi: 10.5603/GP.a2020.0126. Ginekol Pol. 2020. PMID: 33447994 Free article.
69 results