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2015 1
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Page 1
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denommé-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H; Undiagnosed Diseases Network; Bacino CA, Lee BH, Chao HT. Paul MS, et al. Among authors: lerma vc. Am J Hum Genet. 2024 Jan 4;111(1):96-118. doi: 10.1016/j.ajhg.2023.12.004. Am J Hum Genet. 2024. PMID: 38181735 Free PMC article.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Perne C, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denommé-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Banos-Pinero B, Pagnamenta AT, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H; Undiagnosed Diseases Network; Bacino CA, Lee BH, Chao 趙孝端 HT. Paul MS, et al. Among authors: lerma vc. Am J Hum Genet. 2024 Jun 6;111(6):1239. doi: 10.1016/j.ajhg.2024.04.022. Epub 2024 May 8. Am J Hum Genet. 2024. PMID: 38723631 Free PMC article. No abstract available.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Perne C, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denommé-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Banos-Pinero B, Pagnamenta AT, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H; Undiagnosed Diseases Network; Bacino CA, Lee BH, Chao HT. Paul MS, et al. Among authors: lerma vc. Am J Hum Genet. 2024 Apr 4;111(4):805. doi: 10.1016/j.ajhg.2024.03.009. Epub 2024 Mar 20. Am J Hum Genet. 2024. PMID: 38508193 Free PMC article. No abstract available.
Proinflammatory phenotype of iPS cell-derived JAK2 V617F megakaryocytes induces fibrosis in 3D in vitro bone marrow niche.
Flosdorf N, Böhnke J, de Toledo MAS, Lutterbach N, Lerma VG, Graßhoff M, Olschok K, Gupta S, Tharmapalan V, Schmitz S, Götz K, Schüler HM, Maurer A, Sontag S, Küstermann C, Seré K, Wagner W, Costa IG, Brümmendorf TH, Koschmieder S, Chatain N, Castilho M, Schneider RK, Zenke M. Flosdorf N, et al. Among authors: lerma vg. Stem Cell Reports. 2024 Feb 13;19(2):224-238. doi: 10.1016/j.stemcr.2023.12.011. Epub 2024 Jan 25. Stem Cell Reports. 2024. PMID: 38278152 Free PMC article.
Cyclosporine Use in Epidermal Necrolysis Is Associated with an Important Mortality Reduction: Evidence from Three Different Approaches.
González-Herrada C, Rodríguez-Martín S, Cachafeiro L, Lerma V, González O, Lorente JA, Rodríguez-Miguel A, González-Ramos J, Roustan G, Ramírez E, Bellón T, de Abajo FJ; PIELenRed Therapeutic Management Working Group. González-Herrada C, et al. Among authors: lerma v. J Invest Dermatol. 2017 Oct;137(10):2092-2100. doi: 10.1016/j.jid.2017.05.022. Epub 2017 Jun 17. J Invest Dermatol. 2017. PMID: 28634032 Free article. Review.
PAK1 c.1409 T > a (p. Leu470Gln) de novo variant affects the protein kinase domain, leading to epilepsy, macrocephaly, spastic quadriplegia, and hydrocephalus: Case report and review of the literature.
Corriveau ML, Amaya SI, Koebel MC, Lerma VC, Michener SL, Turner A, Schultz RJ, Seto ES, Diaz-Medina GE, Craigen WJ, Swann JW, Xue M, Chao HT. Corriveau ML, et al. Among authors: lerma vc. Am J Med Genet A. 2023 Jun;191(6):1619-1625. doi: 10.1002/ajmg.a.63177. Epub 2023 Mar 10. Am J Med Genet A. 2023. PMID: 36905087 Review.
IL-15/IL-15Rα in SJS/TEN: Relevant Expression of IL15 and IL15RA in Affected Skin.
Bellón T, González-Valle O, Sendagorta E, Lerma V, Martínez Del Río J, Martínez C, Servera G, González-Herrada C, Cachafeiro L, Lorente JA, Cabañas R, Herranz P, de Abajo F; PIELenRed Study. Bellón T, et al. Among authors: lerma v. Biomedicines. 2022 Aug 2;10(8):1868. doi: 10.3390/biomedicines10081868. Biomedicines. 2022. PMID: 36009415 Free PMC article.
Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy.
Paul MS, Michener SL, Pan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Pichon JL, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Pichon AD, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H, Network UD, Bacino CA, Lee BH, Chao HT. Paul MS, et al. Among authors: lerma vc. medRxiv [Preprint]. 2023 Mar 29:2023.03.27.23287689. doi: 10.1101/2023.03.27.23287689. medRxiv. 2023. PMID: 37034625 Free PMC article. Preprint.
HLA-A∗68, -A∗11:01, and -A∗29:02 alleles are strongly associated with benznidazole-induced maculopapular exanthema (MPE)/DRESS.
Balas A, Ramírez E, Trigo E, Cabañas R, Fiandor A, Arsuaga M, Lerma V, Sanz B, LuisVicario J, Herranz P, de Abajo F, Bellón T. Balas A, et al. Among authors: lerma v. J Allergy Clin Immunol Pract. 2020 Oct;8(9):3198-3200.e3. doi: 10.1016/j.jaip.2020.05.004. Epub 2020 May 14. J Allergy Clin Immunol Pract. 2020. PMID: 32417447 No abstract available.
23 results