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NUDCD3 deficiency disrupts V(D)J recombination to cause SCID and Omenn syndrome.
Chen R, Lukianova E, van der Loeff IS, Spegarova JS, Willet JDP, James KD, Ryder EJ, Griffin H, IJspeert H, Gajbhiye A, Lamoliatte F, Marin-Rubio JL, Woodbine L, Lemos H, Swan DJ, Pintar V, Sayes K, Ruiz-Morales ER, Eastham S, Dixon D, Prete M, Prigmore E, Jeggo P, Boyes J, Mellor A, Huang L, van der Burg M, Engelhardt KR, Stray-Pedersen A, Erichsen HC, Gennery AR, Trost M, Adams DJ, Anderson G, Lorenc A, Trynka G, Hambleton S. Chen R, et al. Among authors: stray pedersen a. Sci Immunol. 2024 May 24;9(95):eade5705. doi: 10.1126/sciimmunol.ade5705. Epub 2024 May 24. Sci Immunol. 2024. PMID: 38787962
Personalised medicine for developmental disorders.
Bakke KA, Helverschou SB, Skrivarhaug T, Houge SD, Stray-Pedersen A. Bakke KA, et al. Among authors: stray pedersen a. Tidsskr Nor Laegeforen. 2023 Sep 14;143(13). doi: 10.4045/tidsskr.23.0351. Print 2023 Sep 26. Tidsskr Nor Laegeforen. 2023. PMID: 37753748 Free article. English, Norwegian. No abstract available.
Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5'-untranslated region of UNC45A.
Almaas R, Atneosen-Åsegg M, Ytre-Arne ME, Melheim M, Sorte HS, Cízková D, Reims HM, Bezrouk A, Harrison SP, Strand J, Hermansen JU, Andersen SS, Eiklid KL, Mokrý J, Sullivan GJ, Stray-Pedersen A. Almaas R, et al. Among authors: stray pedersen a. J Hepatol. 2023 Oct;79(4):945-954. doi: 10.1016/j.jhep.2023.05.037. Epub 2023 Jun 14. J Hepatol. 2023. PMID: 37328071 Free article.
Injuries associated with mechanical chest compressions and active decompressions after out-of-hospital cardiac arrest: A subgroup analysis of non-survivors from a randomized study.
Petrovich P, Berve PO, Barth-Heyerdahl Roald B, Wahl Kongsgård H, Stray-Pedersen A, Kramer-Johansen J, Wik L. Petrovich P, et al. Among authors: stray pedersen a. Resusc Plus. 2023 Jan 31;13:100362. doi: 10.1016/j.resplu.2023.100362. eCollection 2023 Mar. Resusc Plus. 2023. PMID: 36798487 Free PMC article.
Brain water content in sudden unexpected infant death.
Eidahl JML, Rognum TO, Stray-Pedersen A, Opdal SH. Eidahl JML, et al. Among authors: stray pedersen a. Forensic Sci Med Pathol. 2023 Dec;19(4):507-516. doi: 10.1007/s12024-023-00584-8. Epub 2023 Feb 3. Forensic Sci Med Pathol. 2023. PMID: 36735187 Free PMC article.
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency.
Lévy R, Gothe F, Momenilandi M, Magg T, Materna M, Peters P, Raedler J, Philippot Q, Rack-Hoch AL, Langlais D, Bourgey M, Lanz AL, Ogishi M, Rosain J, Martin E, Latour S, Vladikine N, Distefano M, Khan T, Rapaport F, Schulz MS, Holzer U, Fasth A, Sogkas G, Speckmann C, Troilo A, Bigley V, Roppelt A, Dinur-Schejter Y, Toker O, Bronken Martinsen KH, Sherkat R, Somekh I, Somech R, Shouval DS, Kühl JS, Ip W, McDermott EM, Cliffe L, Ozen A, Baris S, Rangarajan HG, Jouanguy E, Puel A, Bustamante J, Alyanakian MA, Fusaro M, Wang Y, Kong XF, Cobat A, Boutboul D, Castelle M, Aguilar C, Hermine O, Cheminant M, Suarez F, Yildiran A, Bousfiha A, Al-Mousa H, Alsohime F, Cagdas D, Abraham RS, Knutsen AP, Fevang B, Bhattad S, Kiykim A, Erman B, Arikoglu T, Unal E, Kumar A, Geier CB, Baumann U, Neven B; CARMIL2 Consortium; Rohlfs M, Walz C, Abel L, Malissen B, Marr N, Klein C, Casanova JL, Hauck F, Béziat V. Lévy R, et al. J Exp Med. 2023 Feb 6;220(2):e20220275. doi: 10.1084/jem.20220275. Epub 2022 Dec 14. J Exp Med. 2023. PMID: 36515678 Free PMC article.
125 results