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Page 1
Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells.
Li J, Jørgensen SF, Maggadottir SM, Bakay M, Warnatz K, Glessner J, Pandey R, Salzer U, Schmidt RE, Perez E, Resnick E, Goldacker S, Buchta M, Witte T, Padyukov L, Videm V, Folseraas T, Atschekzei F, Elder JT, Nair RP, Winkelmann J, Gieger C, Nöthen MM, Büning C, Brand S, Sullivan KE, Orange JS, Fevang B, Schreiber S, Lieb W, Aukrust P, Chapel H, Cunningham-Rundles C, Franke A, Karlsen TH, Grimbacher B, Hakonarson H, Hammarström L, Ellinghaus E. Li J, et al. Among authors: buchta m. Nat Commun. 2015 Apr 20;6:6804. doi: 10.1038/ncomms7804. Nat Commun. 2015. PMID: 25891430 Free PMC article.
Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea.
Petersen BS, August D, Abt R, Alddafari M, Atarod L, Baris S, Bhavsar H, Brinkert F, Buchta M, Bulashevska A, Chee R, Cordeiro AI, Dara N, Dückers G, Elmarsafy A, Frede N, Galal N, Gerner P, Glocker EO, Goldacker S, Hammermann J, Hasselblatt P, Havlicekova Z, Hübscher K, Jesenak M, Karaca NE, Karakoc-Aydiner E, Kharaghani MM, Kilic SS, Kiykim A, Klein C, Klemann C, Kobbe R, Kotlarz D, Laass MW, Leahy TR, Mesdaghi M, Mitton S, Neves JF, Öztürk B, Pereira LF, Rohr J, Restrepo JLR, Ruzaike G, Saleh N, Seneviratne S, Senol E, Speckmann C, Tegtmeyer D, Thankam P, van der Werff Ten Bosch J, von Bernuth H, Zeissig S, Zeissig Y, Franke A, Grimbacher B. Petersen BS, et al. Among authors: buchta m. Inflamm Bowel Dis. 2017 Dec;23(12):2109-2120. doi: 10.1097/MIB.0000000000001235. Inflamm Bowel Dis. 2017. PMID: 28930861
Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood.
Schepp J, Proietti M, Frede N, Buchta M, Hübscher K, Rojas Restrepo J, Goldacker S, Warnatz K, Pachlopnik Schmid J, Duppenthaler A, Lougaris V, Uriarte I, Kelly S, Hershfield M, Grimbacher B. Schepp J, et al. Among authors: buchta m. Arthritis Rheumatol. 2017 Aug;69(8):1689-1700. doi: 10.1002/art.40147. Epub 2017 Jul 5. Arthritis Rheumatol. 2017. PMID: 28493328
Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects.
Stepensky P, Keller B, Buchta M, Kienzler AK, Elpeleg O, Somech R, Cohen S, Shachar I, Miosge LA, Schlesier M, Fuchs I, Enders A, Eibel H, Grimbacher B, Warnatz K. Stepensky P, et al. Among authors: buchta m. J Allergy Clin Immunol. 2013 Feb;131(2):477-85.e1. doi: 10.1016/j.jaci.2012.11.050. J Allergy Clin Immunol. 2013. PMID: 23374270
Confirmation of Hyperimmunoglobulin E Syndrome in Two Patients with an Ocular Problem: Detection of Two New DOCK8 Mutations.
Saghafi S, Zandieh F, Fazlollahi MR, Glocker C, Frede N, Buchta M, Yang L, Mahmoudi AH, Houshmand M, Pourpak Z, Grimbacher B, Moin M. Saghafi S, et al. Among authors: buchta m. Iran J Allergy Asthma Immunol. 2022 Jun 18;21(3):355-363. doi: 10.18502/ijaai.v21i3.9809. Iran J Allergy Asthma Immunol. 2022. PMID: 35822685 Free article.
Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis.
Frede N, Rojas-Restrepo J, Caballero Garcia de Oteyza A, Buchta M, Hübscher K, Gámez-Díaz L, Proietti M, Saghafi S, Chavoshzadeh Z, Soler-Palacin P, Galal N, Adeli M, Aldave-Becerra JC, Al-Ddafari MS, Ardenyz Ö, Atkinson TP, Kut FB, Çelmeli F, Rees H, Kilic SS, Kirovski I, Klein C, Kobbe R, Korganow AS, Lilic D, Lunt P, Makwana N, Metin A, Özgür TT, Karakas AA, Seneviratne S, Sherkat R, Sousa AB, Unal E, Patiroglu T, Wahn V, von Bernuth H, Whiteford M, Doffinger R, Jouhadi Z, Grimbacher B. Frede N, et al. Among authors: buchta m. J Clin Immunol. 2021 Nov;41(8):1804-1838. doi: 10.1007/s10875-021-01086-4. Epub 2021 Aug 14. J Clin Immunol. 2021. PMID: 34390440 Free PMC article.
Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene.
Schiavi F, Boedeker CC, Bausch B, Peçzkowska M, Gomez CF, Strassburg T, Pawlu C, Buchta M, Salzmann M, Hoffmann MM, Berlis A, Brink I, Cybulla M, Muresan M, Walter MA, Forrer F, Välimäki M, Kawecki A, Szutkowski Z, Schipper J, Walz MK, Pigny P, Bauters C, Willet-Brozick JE, Baysal BE, Januszewicz A, Eng C, Opocher G, Neumann HP; European-American Paraganglioma Study Group. Schiavi F, et al. Among authors: buchta m. JAMA. 2005 Oct 26;294(16):2057-63. doi: 10.1001/jama.294.16.2057. JAMA. 2005. PMID: 16249420
Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma.
Vanharanta S, Buchta M, McWhinney SR, Virta SK, Peçzkowska M, Morrison CD, Lehtonen R, Januszewicz A, Järvinen H, Juhola M, Mecklin JP, Pukkala E, Herva R, Kiuru M, Nupponen NN, Aaltonen LA, Neumann HP, Eng C. Vanharanta S, et al. Among authors: buchta m. Am J Hum Genet. 2004 Jan;74(1):153-9. doi: 10.1086/381054. Epub 2003 Dec 18. Am J Hum Genet. 2004. PMID: 14685938 Free PMC article.
Molecular characterisation of a common SDHB deletion in paraganglioma patients.
Cascón A, Landa I, López-Jiménez E, Díez-Hernández A, Buchta M, Montero-Conde C, Leskelä S, Leandro-García LJ, Letón R, Rodríguez-Antona C, Eng C, Neumann HP, Robledo M. Cascón A, et al. Among authors: buchta m. J Med Genet. 2008 Apr;45(4):233-8. doi: 10.1136/jmg.2007.054965. Epub 2007 Dec 5. J Med Genet. 2008. PMID: 18057081
30 results