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Year Number of Results
1986 1
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1992 1
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1995 1
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1998 1
2001 2
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2004 1
2006 5
2007 1
2008 3
2009 3
2010 8
2011 5
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2016 7
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132 results

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Page 1
Mechanisms of structural chromosomal rearrangement formation.
Burssed B, Zamariolli M, Bellucco FT, Melaragno MI. Burssed B, et al. Among authors: melaragno mi. Mol Cytogenet. 2022 Jun 14;15(1):23. doi: 10.1186/s13039-022-00600-6. Mol Cytogenet. 2022. PMID: 35701783 Free PMC article. Review.
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Lesmann H, Hustinx A, Moosa S, Klinkhammer H, Marchi E, Caro P, Abdelrazek IM, Pantel JT, Hagen MT, Thong MK, Binti Mazlan RA, Tae SK, Kamphans T, Meiswinkel W, Li JM, Javanmardi B, Knaus A, Uwineza A, Knopp C, Tkemaladze T, Elbracht M, Mattern L, Jamra RA, Velmans C, Strehlow V, Jacob M, Peron A, Dias C, Nunes BC, Vilella T, Pinheiro IF, Kim CA, Melaragno MI, Weiland H, Kaptain S, Chwiałkowska K, Kwasniewski M, Saad R, Wiethoff S, Goel H, Tang C, Hau A, Barakat TS, Panek P, Nabil A, Suh J, Braun F, Gomy I, Averdunk L, Ekure E, Bergant G, Peterlin B, Graziano C, Gaboon N, Fiesco-Roa M, Spinelli AM, Wilpert NM, Phowthongkum P, Güzel N, Haack TB, Bitar R, Tzschach A, Rodriguez-Palmero A, Brunet T, Rudnik-Schöneborn S, Contreras-Capetillo SN, Oberlack A, Samango-Sprouse C, Sadeghin T, Olaya M, Platzer K, Borovikov A, Schnabel F, Heuft L, Herrmann V, Oegema R, Elkhateeb N, Kumar S, Komlosi K, Mohamed K, Kalantari S, Sirchia F, Martinez-Monseny AF, Höller M, Toutouna L, Mohamed A, Lasa-Aranzasti A, Sayer JA, Ehmke N, Danyel M, Sczakiel H, Schwartzmann S, Boschann F, Zhao M, Adam R, Einicke L, Horn D, Chew KS, Kam CC, Karakoyun M, Pode-Shakked B, Eliyahu A, Rock R, Carrion T, Cho… See abstract for full author list ➔ Lesmann H, et al. Among authors: melaragno mi. Res Sq [Preprint]. 2024 Jun 10:rs.3.rs-4438861. doi: 10.21203/rs.3.rs-4438861/v1. Res Sq. 2024. PMID: 38903062 Free PMC article. Preprint.
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Lesmann H, Hustinx A, Moosa S, Klinkhammer H, Marchi E, Caro P, Abdelrazek IM, Pantel JT, Hagen MT, Thong MK, Mazlan RAB, Tae SK, Kamphans T, Meiswinkel W, Li JM, Javanmardi B, Knaus A, Uwineza A, Knopp C, Tkemaladze T, Elbracht M, Mattern L, Jamra RA, Velmans C, Strehlow V, Jacob M, Peron A, Dias C, Nunes BC, Vilella T, Pinheiro IF, Kim CA, Melaragno MI, Weiland H, Kaptain S, Chwiałkowska K, Kwasniewski M, Saad R, Wiethoff S, Goel H, Tang C, Hau A, Barakat TS, Panek P, Nabil A, Suh J, Braun F, Gomy I, Averdunk L, Ekure E, Bergant G, Peterlin B, Graziano C, Gaboon N, Fiesco-Roa M, Spinelli AM, Wilpert NM, Phowthongkum P, Güzel N, Haack TB, Bitar R, Tzschach A, Rodriguez-Palmero A, Brunet T, Rudnik-Schöneborn S, Contreras-Capetillo SN, Oberlack A, Samango-Sprouse C, Sadeghin T, Olaya M, Platzer K, Borovikov A, Schnabel F, Heuft L, Herrmann V, Oegema R, Elkhateeb N, Kumar S, Komlosi K, Mohamed K, Kalantari S, Sirchia F, Martinez-Monseny AF, Höller M, Toutouna L, Mohamed A, Lasa-Aranzasti A, Sayer JA, Ehmke N, Danyel M, Sczakiel H, Schwartzmann S, Boschann F, Zhao M, Adam R, Einicke L, Horn D, Chew KS, Kam CC, Karakoyun M, Pode-Shakked B, Eliyahu A, Rock R, Carrion T, Chorin O… See abstract for full author list ➔ Lesmann H, et al. Among authors: melaragno mi. medRxiv [Preprint]. 2024 Oct 8:2023.06.06.23290887. doi: 10.1101/2023.06.06.23290887. medRxiv. 2024. PMID: 37503210 Free PMC article. Preprint.
Response to Bassett et al.
Zamariolli M, Auwerx C, Sadler MC, van der Graaf A, Lepik K, Schoeler T, Moysés-Oliveira M, Dantas AG, Melaragno MI, Kutalik Z. Zamariolli M, et al. Among authors: melaragno mi. Am J Hum Genet. 2023 Jul 6;110(7):1219-1220. doi: 10.1016/j.ajhg.2023.05.017. Am J Hum Genet. 2023. PMID: 37419093 Free PMC article. No abstract available.
Variants in Candidate Genes for Phenotype Heterogeneity in Patients with the 22q11.2 Deletion Syndrome.
Nunes N, Carvalho Nunes B, Zamariolli M, Cordeiro de Queiroz Soares D, Caires Dos Santos L, Gollo Dantas A, Ayres Meloni V, Iole Belangero S, Gil-Da-Silva-Lopes VL, Ae Kim C, Melaragno MI. Nunes N, et al. Among authors: melaragno mi. Genet Res (Camb). 2024 Mar 30;2024:5549592. doi: 10.1155/2024/5549592. eCollection 2024. Genet Res (Camb). 2024. PMID: 38586596 Free PMC article.
The impact of 22q11.2 copy-number variants on human traits in the general population.
Zamariolli M, Auwerx C, Sadler MC, van der Graaf A, Lepik K, Schoeler T, Moysés-Oliveira M, Dantas AG, Melaragno MI, Kutalik Z. Zamariolli M, et al. Among authors: melaragno mi. Am J Hum Genet. 2023 Feb 2;110(2):300-313. doi: 10.1016/j.ajhg.2023.01.005. Epub 2023 Jan 26. Am J Hum Genet. 2023. PMID: 36706759 Free PMC article.
Clinical and cytogenomic findings in OAV spectrum.
Bragagnolo S, Colovati MES, Souza MZ, Dantas AG, F de Soares MF, Melaragno MI, Perez AB. Bragagnolo S, et al. Among authors: melaragno mi. Am J Med Genet A. 2018 Mar;176(3):638-648. doi: 10.1002/ajmg.a.38576. Epub 2018 Jan 25. Am J Med Genet A. 2018. PMID: 29368383
Rare single-nucleotide variants in oculo-auriculo-vertebral spectrum (OAVS).
Zamariolli M, Colovati M, Moysés-Oliveira M, Nunes N, Caires Dos Santos L, Alvarez Perez AB, Bragagnolo S, Melaragno MI. Zamariolli M, et al. Among authors: melaragno mi. Mol Genet Genomic Med. 2019 Oct;7(10):e00959. doi: 10.1002/mgg3.959. Epub 2019 Aug 30. Mol Genet Genomic Med. 2019. PMID: 31469246 Free PMC article.
132 results