Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

147 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Expanding the phenotype associated with missense mutations of the ARX gene.
Charzewska A, Nawara M, Jakubiuk-Tomaszuk A, Obersztyn E, Hoffman-Zacharska D, Elert E, Jurek M, Bartnik M, Poznański J, Bal J. Charzewska A, et al. Among authors: poznanski j. Am J Med Genet A. 2013 Jul;161A(7):1813-6. doi: 10.1002/ajmg.a.36003. Epub 2013 May 8. Am J Med Genet A. 2013. PMID: 23657928 No abstract available.
Gene conversion between cationic trypsinogen (PRSS1) and the pseudogene trypsinogen 6 (PRSS3P2) in patients with chronic pancreatitis.
Rygiel AM, Beer S, Simon P, Wertheim-Tysarowska K, Oracz G, Kucharzik T, Tysarowski A, Niepokój K, Kierkus J, Jurek M, Gawliński P, Poznański J, Bal J, Lerch MM, Sahin-Tóth M, Weiss FU. Rygiel AM, et al. Among authors: poznanski j. Hum Mutat. 2015 Mar;36(3):350-6. doi: 10.1002/humu.22747. Hum Mutat. 2015. PMID: 25546417 Free PMC article.
Variants in the pancreatic CUB and zona pellucida-like domains 1 (CUZD1) gene in early-onset chronic pancreatitis - A possible new susceptibility gene.
Rygiel AM, Unger LS, Sörgel FL, Masson E, Matsumoto R, Ewers M, Chen JM, Bugert P, Buscail L, Gambin T, Oracz G, Winiewska-Szajewska M, Mianowska A, Poznanski J, Kosińska J, Stawinski P, Płoski R, Koziel D, Gluszek S, Laumen H, Lindgren F, Löhr JM, Orekhova A, Rebours V, Rosendahl J, Párniczky A, Hegyi P, Sasaki A, Kataoka F, Tanaka Y, Hamada S, Sahin-Tóth M, Hegyi E, Férec C, Masamune A, Witt H. Rygiel AM, et al. Among authors: poznanski j. Pancreatology. 2022 Jun;22(5):564-571. doi: 10.1016/j.pan.2022.04.015. Epub 2022 May 1. Pancreatology. 2022. PMID: 35589511 Free PMC article.
The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role.
Bisello G, Kusmierska K, Verbeek MM, Sykut-Cegielska J, Willemsen MAAP, Wevers RA, Szymańska K, Poznanski J, Drozak J, Wertheim-Tysarowska K, Rygiel AM, Bertoldi M. Bisello G, et al. Among authors: poznanski j. Cell Mol Life Sci. 2022 May 20;79(6):305. doi: 10.1007/s00018-022-04343-w. Cell Mol Life Sci. 2022. PMID: 35593933 Free PMC article.
147 results