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Page 1
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.
Savige J, Storey H, Watson E, Hertz JM, Deltas C, Renieri A, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, Lipska-Ziętkiewicz BS. Savige J, et al. Among authors: van eerde a, van hoof e, van geel m. Eur J Hum Genet. 2021 Aug;29(8):1186-1197. doi: 10.1038/s41431-021-00858-1. Epub 2021 Apr 15. Eur J Hum Genet. 2021. PMID: 33854215 Free PMC article.
Guidelines for Genetic Testing and Management of Alport Syndrome.
Savige J, Lipska-Zietkiewicz BS, Watson E, Hertz JM, Deltas C, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, Renieri A, Storey H, Flinter F. Savige J, et al. Among authors: van eerde a, van hoof e, van geel m. Clin J Am Soc Nephrol. 2022 Jan;17(1):143-154. doi: 10.2215/CJN.04230321. Epub 2021 Dec 20. Clin J Am Soc Nephrol. 2022. PMID: 34930753 Free PMC article.
Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.
Savige J, Storey H, Watson E, Hertz JM, Deltas C, Renieri A, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, Lipska-Ziętkiewicz BS. Savige J, et al. Among authors: van geel m. Eur J Hum Genet. 2024 Jan;32(1):132. doi: 10.1038/s41431-023-01288-x. Eur J Hum Genet. 2024. PMID: 36721056 Free PMC article. No abstract available.
Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next-generation sequencing.
Baardman R, Lemmink HH, Yenamandra VK, Commandeur-Jan SZ, Viel M, Kooi KA, Diercks GFH, Meijer R, van Geel M, Scheffer H, Sinke RJ, Sikkema-Raddatz B, Bolling MC, van den Akker PC. Baardman R, et al. Among authors: van geel m. J Eur Acad Dermatol Venereol. 2024 Mar 11. doi: 10.1111/jdv.19938. Online ahead of print. J Eur Acad Dermatol Venereol. 2024. PMID: 38465480
Detection of PTCH1 Copy-Number Variants in Mosaic Basal Cell Nevus Syndrome.
Roemen GMJM, Theunissen TEJ, Hoezen WWJ, Steyls ARM, Paulussen ADC, Mosterd K, Rahikkala E, Zur Hausen A, Speel EJM, van Geel M. Roemen GMJM, et al. Among authors: van geel m. Biomedicines. 2024 Jan 31;12(2):330. doi: 10.3390/biomedicines12020330. Biomedicines. 2024. PMID: 38397932 Free PMC article.
Influence of pathogenic filaggrin variants on dupilumab treatment in atopic dermatitis.
Clabbers J, Boesjes C, Spekhorst L, van Gisbergen MW, Maas E, Marshall J, Janssen R, Janssen M, Zuithoff N, Steijlen P, de Graaf M, van Geel M, de Bruin-Weller M, Gostyński A. Clabbers J, et al. Among authors: van geel m. J Allergy Clin Immunol. 2024 Apr;153(4):1155-1161.e4. doi: 10.1016/j.jaci.2023.12.027. Epub 2024 Jan 23. J Allergy Clin Immunol. 2024. PMID: 38272373 Free article.
HRAS mosaicism in linear palmoplantar keratoderma.
Clabbers JMK, Roemen GMJM, Rajan N, Shah A, Woo P, Arefi M, Vreeburg M, Steijlen PM, Gostyński A, van Geel M. Clabbers JMK, et al. Among authors: van geel m. J Eur Acad Dermatol Venereol. 2024 May;38(5):e382-e384. doi: 10.1111/jdv.19613. Epub 2023 Nov 10. J Eur Acad Dermatol Venereol. 2024. PMID: 37909292 No abstract available.
Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions.
Rossel SVJ, Clabbers JMK, Steijlen PM, van den Akker PC, Spuls PI, Middelkamp Hup MA, van Maarle MC, Vreeburg M, Bolling MC, van Geel M, Gostyński A. Rossel SVJ, et al. Among authors: van geel m. J Eur Acad Dermatol Venereol. 2023 Dec;37(12):e1405-e1409. doi: 10.1111/jdv.19340. Epub 2023 Jul 24. J Eur Acad Dermatol Venereol. 2023. PMID: 37458571 No abstract available.
194 results