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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

133 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Ebstein F, Küry S, Most V, Rosenfelt C, Scott-Boyer MP, van Woerden GM, Besnard T, Papendorf JJ, Studencka-Turski M, Wang T, Hsieh TC, Golnik R, Baldridge D, Forster C, de Konink C, Teurlings SMW, Vignard V, van Jaarsveld RH, Ades L, Cogné B, Mignot C, Deb W, Jongmans MCJ, Cole FS, van den Boogaard MH, Wambach JA, Wegner DJ, Yang S, Hannig V, Brault JA, Zadeh N, Bennetts B, Keren B, Gélineau AC, Powis Z, Towne M, Bachman K, Seeley A, Beck AE, Morrison J, Westman R, Averill K, Brunet T, Haasters J, Carter MT, Osmond M, Wheeler PG, Forzano F, Mohammed S, Trakadis Y, Accogli A, Harrison R, Guo Y, Hakonarson H, Rondeau S, Baujat G, Barcia G, Feichtinger RG, Mayr JA, Preisel M, Laumonnier F, Kallinich T, Knaus A, Isidor B, Krawitz P, Völker U, Hammer E, Droit A, Eichler EE, Elgersma Y, Hildebrand PW, Bolduc F, Krüger E, Bézieau S. Ebstein F, et al. Among authors: kallinich t. Sci Transl Med. 2023 May 31;15(698):eabo3189. doi: 10.1126/scitranslmed.abo3189. Epub 2023 May 31. Sci Transl Med. 2023. PMID: 37256937 Free PMC article.
An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing.
Mackenroth L, Fischer-Zirnsak B, Egerer J, Hecht J, Kallinich T, Stenzel W, Spors B, von Moers A, Mundlos S, Kornak U, Gerhold K, Horn D. Mackenroth L, et al. Among authors: kallinich t. Am J Med Genet A. 2016 Apr;170A(4):1080-5. doi: 10.1002/ajmg.a.37547. Epub 2016 Jan 22. Am J Med Genet A. 2016. PMID: 26799614
Correlation of Secretory Activity of Neutrophils With Genotype in Patients With Familial Mediterranean Fever.
Gohar F, Orak B, Kallinich T, Jeske M, Lieber M, von Bernuth H, Giese A, Weissbarth-Riedel E, Haas JP, Dressler F, Holzinger D, Lohse P, Neudorf U, Lainka E, Hinze C, Masjosthusmann K, Kessel C, Weinhage T, Foell D, Wittkowski H. Gohar F, et al. Among authors: kallinich t. Arthritis Rheumatol. 2016 Dec;68(12):3010-3022. doi: 10.1002/art.39784. Arthritis Rheumatol. 2016. PMID: 27333294
Severe infections of Panton-Valentine leukocidin positive Staphylococcus aureus in children.
Hoppe PA, Holzhauer S, Lala B, Bührer C, Gratopp A, Hanitsch LG, Humme D, Kieslich M, Kallinich T, Lau S, Leistner R, Niebank M, Pokrywka A, Ringe H, Schaper AS, Schröder JT, Schwarz C, Staab D, Stegemann MS, Thee S, Varnholt V, von Bernuth H, Weber-Carstens S, Wendt A, Krüger R. Hoppe PA, et al. Among authors: kallinich t. Medicine (Baltimore). 2019 Sep;98(38):e17185. doi: 10.1097/MD.0000000000017185. Medicine (Baltimore). 2019. PMID: 31567961 Free PMC article.
Gene-Dose Effect of MEFV Gain-of-Function Mutations Determines ex vivo Neutrophil Activation in Familial Mediterranean Fever.
Stoler I, Freytag J, Orak B, Unterwalder N, Henning S, Heim K, von Bernuth H, Krüger R, Winkler S, Eschenhagen P, Seipelt E, Mall MA, Foell D, Kessel C, Wittkowski H, Kallinich T. Stoler I, et al. Among authors: kallinich t. Front Immunol. 2020 Jun 11;11:716. doi: 10.3389/fimmu.2020.00716. eCollection 2020. Front Immunol. 2020. PMID: 32655537 Free PMC article.
133 results