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Carrier detection of Batten disease (juvenile neuronal ceroid-lipofuscinosis).
Taschner PE, de Vos N, Post JG, Meijers-Heijboer EJ, Hofman I, Loonen MC, Pinckers AJ, Bleeker-Wagemakers EM, Gardiner RM, Breuning MH. Taschner PE, et al. Among authors: hofman i. Am J Med Genet. 1995 Jun 5;57(2):333-7. doi: 10.1002/ajmg.1320570246. Am J Med Genet. 1995. PMID: 7668358 Free article.
Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.
Mitchison HM, Hofmann SL, Becerra CH, Munroe PB, Lake BD, Crow YJ, Stephenson JB, Williams RE, Hofman IL, Taschner PE, Martin JJ, Philippart M, Andermann E, Andermann F, Mole SE, Gardiner RM, O'Rawe AM. Mitchison HM, et al. Among authors: hofman il. Hum Mol Genet. 1998 Feb;7(2):291-7. doi: 10.1093/hmg/7.2.291. Hum Mol Genet. 1998. PMID: 9425237
Erythroid Differentiation Enhances RNA Mis-Splicing in SF3B1-Mutant Myelodysplastic Syndromes with Ring Sideroblasts.
Moura PL, Mortera-Blanco T, Hofman IJ, Todisco G, Kretzschmar WW, Björklund AC, Creignou M, Hagemann-Jensen M, Ziegenhain C, Cabrerizo Granados D, Barbosa I, Walldin G, Jansson M, Ashley N, Mead AJ, Lundin V, Dimitriou M, Yoshizato T, Woll PS, Ogawa S, Sandberg R, Jacobsen SEW, Hellström-Lindberg E. Moura PL, et al. Among authors: hofman ij. Cancer Res. 2024 Jan 16;84(2):211-225. doi: 10.1158/0008-5472.CAN-23-3038. Cancer Res. 2024. PMID: 37921711 Free PMC article.
A concept for integrated care pathways for atopic dermatitis-A GA2 LEN ADCARE initiative.
Zuberbier T, Abdul Latiff A, Aggelidis X, Augustin M, Balan RG, Bangert C, Beck L, Bieber T, Bernstein JA, Bertolin Colilla M, Berardi A, Bedbrook A, Bindslev-Jensen C, Bousquet J, de Bruin-Weller M, Bruscky D, Buyuktiryaki B, Canonica GW, Castro C, Chanturidze N, Chong-Neto HJ, Chu CY, Chularojanamontri L, Cork M, Criado RFJ, Barredo LC, Custovic A, Darsow U, Emurlai A, de Pablo A, Del Giacco S, Girolomoni G, Deleva Jovanova T, Deleuran M, Douladiris N, Duarte B, Dubakiene R, Eller E, Engel-Yeger B, Ensina LF, Filho NR, Flohr C, Fomina D, Francuzik W, Galimberti ML, Giménez-Arnau AM, Godse K, Mortz CG, Gotua M, Hide M, Hoetzenecker W, Hunzelmann N, Irvine A, Jack C, Kanavarou I, Katoh N, Kinaciyan T, Kocatürk E, Kulthanan K, Lapeere H, Lau S, Machado Forti Nastri M, Makris M, Mansour E, Marsland A, Morelo Rocha Felix M, Moschione Castro AP, Nettis E, Nicolas JF, Nosbaum A, Odemyr M, Papapostolou N, Parisi CAS, Paudel S, Peter J, Pokharel P, Puig L, Quint T, Ramon GD, Regateiro F, Ricci G, Rosario C, Sackesen C, Schmid-Grendelmeier P, Serra-Baldrich E, Siemens K, Smith C, Staubach P, Stevanovic K, Su-Kücük Ö, Sussman G, Tavecchio S, Teovska Mitrevska N, Thaci D, Toubi E, Traidl-Ho… See abstract for full author list ➔ Zuberbier T, et al. Among authors: van hofman i. Clin Transl Allergy. 2023 Sep;13(9):e12299. doi: 10.1002/clt2.12299. Clin Transl Allergy. 2023. PMID: 37746794 Free PMC article. Review.
31 results