Search Results - "Segarra-Roca, Anna"

Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37.

Authors: Corral-Juan, Marc Serrano-Munuera, Carmen Rábano, Alberto et al.

Source: Brain: A Journal of Neurology; Jul2018, Vol. 141 Issue 7, p1981-1997, 17p

Novel PGM3 mutation in two siblings with combined immunodeficiency and childhood bullous pemphigoid: a case report and review of the literature.

Authors: Fallahi, Mazdak Jamee, Mahnaz Enayat, Javad et al.

Source: Allergy, Asthma & Clinical Immunology. 12/24/2022, Vol. 18 Issue 1, p1-9. 9p.

Evans syndrome caused by a deleterious mutation affecting the adaptor protein SASH3.

Authors: Novak, Wolfgang Berner, Jakob Svaton, Michael et al.

Source: British Journal of Haematology. Nov2023, Vol. 203 Issue 4, p678-683. 6p.

LTβR deficiency causes lymph node aplasia and impaired B cell differentiation.

Authors: Ransmayr B Bal SK Thian M et al.

Source: Science immunology [Sci Immunol] 2024 Nov 22; Vol. 9 (101), pp. eadq8796. Date of Electronic Publication: 2024 Nov 22.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101688624 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2470-9468 (Electronic) Linking ISSN: 24709468 NLM ISO Abbreviation: Sci Immunol Subsets: MEDLINE

Image-based drug screening combined with molecular profiling identifies signatures and drivers of therapy resistance in pediatric AML.

Authors: Haladik B Maurer-Granofszky M Zoescher P et al.

Source: Cell reports. Medicine [Cell Rep Med] 2025 Sep 16; Vol. 6 (9), pp. 102304. Date of Electronic Publication: 2025 Aug 20.

Publication Type: Journal Article

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 101766894 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-3791 (Electronic) Linking ISSN: 26663791 NLM ISO Abbreviation: Cell Rep Med Subsets: MEDLINE

Clinical and Immunological Prognostic Factors With Novel Variants in a Large Cohort of Diacylglycerol Acyltransferase 1 Deficiency.

Authors: Yorgun Altunbas M Kogler H Abolhassani H et al.

Source: The journal of allergy and clinical immunology. In practice [J Allergy Clin Immunol Pract] 2025 Sep; Vol. 13 (9), pp. 2449-2459.e7. Date of Electronic Publication: 2025 Mar 26.

Publication Type: Journal Article; Multicenter Study

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101597220 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2213-2201 (Electronic) NLM ISO Abbreviation: J Allergy Clin Immunol Pract Subsets: MEDLINE

A single-center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease-causing genotypes.

Authors: Kager L Jimenez-Heredia R Zeitlhofer P et al.

Source: HemaSphere [Hemasphere] 2024 Jan 26; Vol. 8 (1), pp. e31. Date of Electronic Publication: 2024 Jan 26 (Print Publication: 2024).

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 101740619 Publication Model: eCollection Cited Medium: Internet ISSN: 2572-9241 (Electronic) Linking ISSN: 25729241 NLM ISO Abbreviation: Hemasphere Subsets: PubMed not MEDLINE

Novel Variants of DOCK8 Deficiency in a Case Series of Iranian Patients.

Authors: Momtazmanesh S Rayzan E Zoghi S et al.

Source: Endocrine, metabolic & immune disorders drug targets [Endocr Metab Immune Disord Drug Targets] 2022; Vol. 22 (1), pp. 159-168.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Bentham Science Publishers Country of Publication: United Arab Emirates NLM ID: 101269157 Publication Model: Print Cited Medium: Internet ISSN: 2212-3873 (Electronic) Linking ISSN: 18715303 NLM ISO Abbreviation: Endocr Metab Immune Disord Drug Targets Subsets: MEDLINE