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Mast cells, cortistatin, and its receptor, MRGPRX2, are linked to the pathogenesis of chronic prurigo.
J Allergy Clin Immunol. 2022 Jun;149(6):1998-2009.e5. doi: 10.1016/j.jaci.2022.02.021. Epub 2022 Mar 10.
J Allergy Clin Immunol. 2022.
PMID: 35283140
Topical inflammasome inhibition with disulfiram prevents irritant contact dermatitis.
Bonnekoh H, Vera C, Abad-Perez A, Radetzki S, Neuenschwander M, Specker E, Mahnke NA, Frischbutter S, Latz E, Nazaré M, Kries JV, Maurer M, Scheffel J, Krause K.
Bonnekoh H, et al.
Clin Transl Allergy. 2021 Jul 22;11(5):e12045. doi: 10.1002/clt2.12045. eCollection 2021 Jul.
Clin Transl Allergy. 2021.
PMID: 34322217
Free PMC article.
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GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C-terminal third.
Sczakiel HL, Hülsemann W, Holtgrewe M, Abad-Perez AT, Elsner J, Schwartzmann S, Horn D, Spielmann M, Mundlos S, Mensah MA.
Sczakiel HL, et al. Among authors: abad perez at.
Clin Genet. 2021 Dec;100(6):758-765. doi: 10.1111/cge.14059. Epub 2021 Sep 16.
Clin Genet. 2021.
PMID: 34482537
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Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.
Suter AA, Santos-Simarro F, Toerring PM, Abad Perez A, Ramos-Mejia R, Heath KE, Huckstadt V, Parrón-Pajares M, Mensah MA, Hülsemann W, Holtgrewe M, Mundlos S, Kornak U, Bartsch O, Ehmke N.
Suter AA, et al.
Am J Med Genet A. 2020 Sep;182(9):2068-2076. doi: 10.1002/ajmg.a.61735. Epub 2020 Jun 27.
Am J Med Genet A. 2020.
PMID: 32592542
Free article.
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Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study.
Pantel JT, Hajjir N, Danyel M, Elsner J, Abad-Perez AT, Hansen P, Mundlos S, Spielmann M, Horn D, Ott CE, Mensah MA.
Pantel JT, et al. Among authors: abad perez at.
J Med Internet Res. 2020 Oct 22;22(10):e19263. doi: 10.2196/19263.
J Med Internet Res. 2020.
PMID: 33090109
Free PMC article.
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HOXD13-associated synpolydactyly: Extending and validating the genotypic and phenotypic spectrum with 38 new and 49 published families.
Gottschalk A, Sczakiel HL, Hülsemann W, Schwartzmann S, Abad-Perez AT, Grünhagen J, Ott CE, Spielmann M, Horn D, Mundlos S, Jamsheer A, Mensah MA.
Gottschalk A, et al. Among authors: abad perez at.
Genet Med. 2023 Nov;25(11):100928. doi: 10.1016/j.gim.2023.100928. Epub 2023 Jul 7.
Genet Med. 2023.
PMID: 37427568
Review.
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The importance of routine genetic testing in pediatric epilepsy surgery.
Becker LL, Makridis KL, Abad-Perez AT, Thomale UW, Tietze A, Elger CE, Horn D, Kaindl AM.
Becker LL, et al. Among authors: abad perez at.
Epilepsia Open. 2024 Apr;9(2):800-807. doi: 10.1002/epi4.12916. Epub 2024 Feb 17.
Epilepsia Open. 2024.
PMID: 38366963
Free PMC article.
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