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232 results

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Page 1
Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing.
Rensing-Ehl A, Lorenz MR, Führer M, Willenbacher W, Willenbacher E, Sopper S, Abinun M, Maccari ME, König C, Haegele P, Fuchs S, Castro C, Kury P, Pelle O, Klemann C, Heeg M, Thalhammer J, Wegehaupt O, Fischer M, Goldacker S, Schulte B, Biskup S, Chatelain P, Schuster V, Warnatz K, Grimbacher B, Meinhardt A, Holzinger D, Oommen PT, Hinze T, Hebart H, Seeger K, Lehmberg K, Leahy TR, Claviez A, Vieth S, Schilling FH, Fuchs I, Groß M, Rieux-Laucat F, Magerus A, Speckmann C, Schwarz K, Ehl S; ALPS Study Group. Rensing-Ehl A, et al. Among authors: holzinger d. J Allergy Clin Immunol. 2024 Jan;153(1):297-308.e12. doi: 10.1016/j.jaci.2023.11.006. Epub 2023 Nov 17. J Allergy Clin Immunol. 2024. PMID: 37979702
Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study.
Hägele P, Staus P, Scheible R, Uhlmann A, Heeg M, Klemann C, Maccari ME, Ritterbusch H, Armstrong M, Cutcutache I, Elliott KS, von Bernuth H, Leahy TR, Leyh J, Holzinger D, Lehmberg K, Svec P, Masjosthusmann K, Hambleton S, Jakob M, Sparber-Sauer M, Kager L, Puzik A, Wolkewitz M, Lorenz MR, Schwarz K, Speckmann C, Rensing-Ehl A, Ehl S; ALPID study group. Hägele P, et al. Among authors: holzinger d. Lancet Haematol. 2024 Feb;11(2):e114-e126. doi: 10.1016/S2352-3026(23)00362-9. Lancet Haematol. 2024. PMID: 38302222
Phenotypic spectrum in recessive STING-associated vasculopathy with onset in infancy: Four novel cases and analysis of previously reported cases.
Wan R, Fänder J, Zakaraia I, Lee-Kirsch MA, Wolf C, Lucas N, Olfe LI, Hendrich C, Jonigk D, Holzinger D, Steindor M, Schmidt G, Davenport C, Klemann C, Schwerk N, Griese M, Schlegelberger B, Stehling F, Happle C, Auber B, Steinemann D, Wetzke M, von Hardenberg S. Wan R, et al. Among authors: holzinger d. Front Immunol. 2022 Oct 6;13:1029423. doi: 10.3389/fimmu.2022.1029423. eCollection 2022. Front Immunol. 2022. PMID: 36275728 Free PMC article.
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia.
Saettini F, Guerra F, Mauri M, Salter CG, Adam MP, Adams D, Baple EL, Barredo E, Bhatia S, Borkhardt A, Brusco A, Bugarin C, Chinello C, Crosby AH, D'Souza P, Denti V, Fazio G, Giuliani S, Kuehn HS, Amel H, Elmi A, Lo B, Malighetti F, Mandrile G, Martín-Nalda A, Mefford HC, Moratto D, Emam Mousavi F, Nelson Z, Gutiérrez-Solana LG, Macnamara E, Michaud V, O'Leary M, Pagani L, Pavinato L, Santamaria PV, Planas-Serra L, Quadri M, Raspall-Chaure M, Rebellato S, Rosenzweig SD, Roubertie A, Holzinger D, Deal C, Vockley CW, Savino AM, L Stoddard J, Uhlig HH, Pujol A, Magni F, Paglia G, Cazzaniga G, Piazza R, Barberis M, Biondi A. Saettini F, et al. Among authors: holzinger d. J Clin Immunol. 2024 Sep 23;45(1):15. doi: 10.1007/s10875-024-01793-8. J Clin Immunol. 2024. PMID: 39312004
Prevalence of human papillomaviruses in self-collected samples among women attending antenatal care in Ethiopia: a cross-sectional study.
Runge I, Klein JMA, Pannen AK, Abera S, Wakuma T, Gebrehiwot Y, Unverzagt S, Wienke A, Thomssen C, Kaufmann AM, Jemal A, Abebe T, Holzinger D, Waterboer T, Höfler D, Addissie A, Kantelhardt EJ. Runge I, et al. Among authors: holzinger d. Ecancermedicalscience. 2024 Aug 14;18:1739. doi: 10.3332/ecancer.2024.1739. eCollection 2024. Ecancermedicalscience. 2024. PMID: 39421164 Free PMC article.
Correction: Tau seed amplification assay reveals relationship between seeding and pathological forms of tau in Alzheimer's disease brain.
Frey B, Holzinger D, Taylor K, Ehrnhoefer DE, Striebinger A, Biesinger S, Gasparini L, O'Neill MJ, Wegner F, Barghorn S, Höglinger GU, Heym RG. Frey B, et al. Among authors: holzinger d. Acta Neuropathol Commun. 2024 Jul 15;12(1):115. doi: 10.1186/s40478-024-01825-9. Acta Neuropathol Commun. 2024. PMID: 39004770 Free PMC article. No abstract available.
Family-Centered Early Intervention Deaf/Hard of Hearing (FCEI-DHH): Structure Principles.
Szarkowski A, Gale E, Moeller MP, Smith T, Birdsey BC, Moodie STF, Carr G, Stredler-Brown A, Yoshinaga-Itano C; FCEI-DHH International Consensus Panel; Holzinger D. Szarkowski A, et al. Among authors: holzinger d. J Deaf Stud Deaf Educ. 2024 Feb 29;29(SI):SI86-SI104. doi: 10.1093/deafed/enad040. J Deaf Stud Deaf Educ. 2024. PMID: 38422449
Family-Centered Early Intervention Deaf/Hard of Hearing (FCEI-DHH): Guiding Values.
Moeller MP, Szarkowski A, Gale E, Smith T, Birdsey BC, Moodie STF, Carr G, Stredler-Brown A, Yoshinaga-Itano C; FCEI-DHH International Consensus Panel; Holzinger D. Moeller MP, et al. Among authors: holzinger d. J Deaf Stud Deaf Educ. 2024 Feb 29;29(SI):SI8-SI26. doi: 10.1093/deafed/enad038. J Deaf Stud Deaf Educ. 2024. PMID: 38422448
232 results