{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T06:09:55Z","timestamp":1747202995839,"version":"3.40.5"},"reference-count":27,"publisher":"Archives of Endocrinology and Metabolism","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,8,24]]},"DOI":"10.20945\/2359-3997000000278","type":"journal-article","created":{"date-parts":[[2020,11,25]],"date-time":"2020-11-25T14:46:56Z","timestamp":1606315616000},"source":"Crossref","is-referenced-by-count":0,"title":["Targeted massively parallel sequencing for congenital generalized lipodystrophy"],"prefix":"10.20945","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9799-6662","authenticated-orcid":false,"given":"Aline D.","family":"Costa-Riquetto","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0428-2386","authenticated-orcid":false,"given":"Lucas S.","family":"Santana","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4645-5858","authenticated-orcid":false,"given":"L\u00edlian A.","family":"Caetano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8336-6432","authenticated-orcid":false,"given":"Ant\u00f4nio M.","family":"Ler\u00e1rio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5347-9321","authenticated-orcid":false,"given":"Joya E. M.","family":"Correia-Deur","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4701-6777","authenticated-orcid":false,"given":"D\u00e9bora R.","family":"Bertola","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1754-1300","authenticated-orcid":false,"given":"Chong A.","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2415-9668","authenticated-orcid":false,"given":"M\u00e1rcia","family":"Nery","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2567-7360","authenticated-orcid":false,"given":"Alexander A. L.","family":"Jorge","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0303-5335","authenticated-orcid":false,"given":"Milena G.","family":"Teles","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"8510","reference":[{"key":"key20201125094650_B1","doi-asserted-by":"crossref","first-page":"3313","DOI":"10.1210\/jc.2011-1159","article-title":"Lipodystrophies: Genetic and Acquired Body Fat Disorders","volume":"96","author":"Garg","year":"2011","unstructured":"1. Garg A. Lipodystrophies: Genetic and Acquired Body Fat Disorders. J Clin Endocrinol Metab. 2011;96:3313-25.","journal-title":"J Clin Endocrinol Metab"},{"key":"key20201125094650_B2","doi-asserted-by":"crossref","first-page":"107","DOI":"10.4158\/endp.19.1.v767575m65p5mr06","article-title":"The clinical approach to the detection of lipodystrophy \u2013 an AACE consensus statement","volume":"19","author":"Handelsman","year":"2013","unstructured":"2. Handelsman Y. The clinical approach to the detection of lipodystrophy \u2013 an AACE consensus statement. Endocr Pract. 2013;19:107-16.","journal-title":"Endocr Pract"},{"key":"key20201125094650_B3","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1016\/j.ecl.2004.03.003","article-title":"Lipodystrophies: rare disorders causing metabolic syndrome","volume":"33","author":"Garg","year":"2004","unstructured":"3. Garg A, Misra A. Lipodystrophies: rare disorders causing metabolic syndrome. Endocrinol Metab Clin North Am. 2004;33:305-31.","journal-title":"Endocrinol Metab Clin North Am"},{"key":"key20201125094650_B4","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1530\/eje.0.1430565","article-title":"Discovery of a lipodystrophy gene: one answer, one hundred questions","volume":"143","author":"Shalev","year":"2000","unstructured":"4. Shalev A. Discovery of a lipodystrophy gene: one answer, one hundred questions. Eur J Endocrinol. 2000;143:565-7.","journal-title":"Eur J Endocrinol"},{"key":"key20201125094650_B5","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/S0002-9343(99)00414-3","article-title":"Lipodystrophies","volume":"108","author":"Garg","year":"2000","unstructured":"5. Garg A. Lipodystrophies. Am J Med. 2000;108:143-52.","journal-title":"Am J Med"},{"key":"key20201125094650_B6","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1038\/nrendo.2015.123","article-title":"Congenital generalized lipodystrophies \u2013 new insights into metabolic dysfunction","volume":"11","author":"Patni","year":"2015","unstructured":"6. Patni N, Garg A. Congenital generalized lipodystrophies \u2013 new insights into metabolic dysfunction. Nat Rev Endocrinol. 2015;11:522-34.","journal-title":"Nat Rev Endocrinol"},{"key":"key20201125094650_B7","doi-asserted-by":"crossref","first-page":"4500","DOI":"10.1210\/jc.2016-2466","article-title":"The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline","volume":"101","author":"Brown","year":"2016","unstructured":"7. Brown RJ, Araujo-Vilar D, Cheung PT, Dunger D, Garg A, Jack M, et al. The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline. J Clin Endocrinol Metab. 2016;101:4500-11.","journal-title":"J Clin Endocrinol Metab"},{"key":"key20201125094650_B8","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1016\/0022-2836(75)90213-2","article-title":"A rapid method for determining sequences in DNA by primed synthesis with DNA polymerase","volume":"94","author":"Sanger","year":"1975","unstructured":"8. Sanger F, Coulson AR. A rapid method for determining sequences in DNA by primed synthesis with DNA polymerase. J Mol Biol. 1975;94:441-8.","journal-title":"J Mol Biol"},{"key":"key20201125094650_B9","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1038\/nrg3463","article-title":"Disease-targeted sequencing: a cornerstone in the clinic","volume":"14","author":"Rehm","year":"2013","unstructured":"9. Rehm HL. Disease-targeted sequencing: a cornerstone in the clinic. Nat Rev Genet. 2013;14:295-300.","journal-title":"Nat Rev Genet"},{"key":"key20201125094650_B10","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1038\/nature03959","article-title":"Genome sequencing in microfabricated high-density picolitre reactors","volume":"437","author":"Margulies","year":"2005","unstructured":"10. Margulies M, Egholm M, Altman WE, Attiya S, Bader JS, Bemben LA, et al. Genome sequencing in microfabricated high-density picolitre reactors. Nature. 2005;437:376-80.","journal-title":"Nature"},{"key":"key20201125094650_B11","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1093\/nar\/16.3.1215","article-title":"A simple salting out procedure for extracting DNA from human nucleated cells","volume":"16","author":"Miller","year":"1988","unstructured":"11. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16:1215.","journal-title":"Nucleic Acids Res"},{"key":"key20201125094650_B12","author":"Li","year":"2013","unstructured":"12. Li H. Aligning sequence reads, clone sequences and assembly contigs with BWA-MEM [Internet]. 2013. Available from: http:\/\/arxiv.org\/abs\/1303.3997.","journal-title":"Aligning sequence reads, clone sequences and assembly contigs with BWA-MEM [Internet]"},{"journal-title":"Bamsort from the Biobambam2 suite from bedtools","key":"key20201125094650_B13","unstructured":"13. Bamsort from the Biobambam2 suite from bedtools. n.d. Available from: http:\/\/bedtools.readthedocs.io\/en\/latest\/content\/tools\/bamtofastq.html. Accessed on: August 1, 2016."},{"key":"key20201125094650_B14","author":"Garrison","year":"2012","unstructured":"14. Garrison E, Marth G. Haplotype-based variant detection from short-read sequencing. 2012. doi:arXiv:1207.3907 [q-bio.GN].","journal-title":"Haplotype-based variant detection from short-read sequencing"},{"key":"key20201125094650_B15","doi-asserted-by":"crossref","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data","volume":"38","author":"Wang","year":"2010","unstructured":"15. Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 2010;38:e164.","journal-title":"Nucleic Acids Res"},{"key":"key20201125094650_B16","doi-asserted-by":"crossref","first-page":"1307","DOI":"10.1093\/bioinformatics\/bts146","article-title":"CONTRA: copy number analysis for targeted resequencing","volume":"28","author":"Li","year":"2012","unstructured":"16. Li J, Lupat R, Amarasinghe KC, Thompson ER, Doyle MA, Ryland GL, et al. CONTRA: copy number analysis for targeted resequencing. Bioinformatics. 2012;28:1307-13.","journal-title":"Bioinformatics"},{"journal-title":"Babraham Bioinformatics FastQC","author":"Babraham Institute","key":"key20201125094650_B17","unstructured":"17. Babraham Institute. Babraham Bioinformatics FastQC. n.d. Available from: http:\/\/www.bioinformatics.babraham.ac.uk\/projects\/fastqc. Accessed on: April 1, 2016."},{"journal-title":"QualiMap","key":"key20201125094650_B18","unstructured":"18. QualiMap. n.d. Available from: http:\/\/qualimap.bioinfo.cipf.es. Accessed on: April 1, 2016."},{"key":"key20201125094650_B19","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","unstructured":"19. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405-23.","journal-title":"Genet Med"},{"key":"key20201125094650_B20","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1186\/gm40","article-title":"New strategies and emerging technologies for massively parallel sequencing: applications in medical research","volume":"1","author":"Mardis","year":"2009","unstructured":"20. Mardis ER. New strategies and emerging technologies for massively parallel sequencing: applications in medical research. Genome Med. 2009;1:40.","journal-title":"Genome Med"},{"key":"key20201125094650_B21","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1111\/cge.12623","article-title":"Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum","volume":"89","author":"Haghighi","year":"2016","unstructured":"21. Haghighi A, Kavehmanesh Z, Haghighi A, Salehzadeh F, Santos-Simarro F, Van Maldergem L, et al. Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum. Clin Genet. 2016;89:434-41.","journal-title":"Clin Genet"},{"key":"key20201125094650_B22","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1016\/j.mrrev.2019.03.005","article-title":"The worldwide mutational landscape of Berardinelli-Seip congenital lipodystrophy","volume":"781","author":"Craveiro Sarmento","year":"2019","unstructured":"22. Craveiro Sarmento AS, Ferreira LC, Lima JG, de Azevedo Medeiros LB, Barbosa Cunha PT, Agnez-Lima LF, et al. The worldwide mutational landscape of Berardinelli-Seip congenital lipodystrophy. Mutat Res Mutat Res. 2019;781:30-52.","journal-title":"Mutat Res Mutat Res"},{"key":"key20201125094650_B23","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1186\/s13098-016-0140-x","article-title":"Clinical and laboratory data of a large series of patients with congenital generalized lipodystrophy","volume":"8","author":"Lima","year":"2016","unstructured":"23. Lima JG, Nobrega LHC, de Lima NN, do Nascimento Santos MG, Baracho MFP, Jeronimo SMB. Clinical and laboratory data of a large series of patients with congenital generalized lipodystrophy. Diabetol Metab Syndr. 2016;8:23.","journal-title":"Diabetol Metab Syndr"},{"key":"key20201125094650_B24","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1210\/jc.2003-030415","article-title":"Mutations in the Seipin and AGPAT2 Genes Clustering in Consanguineous Families with Berardinelli-Seip Congenital Lipodystrophy from Two Separate Geographical Regions of Brazil","volume":"89","author":"Gomes","year":"2004","unstructured":"24. Gomes KB, Fernandes AP, Ferreira ACS, Pardini H, Garg A, Magr\u00e9 J, et al. Mutations in the Seipin and AGPAT2 Genes Clustering in Consanguineous Families with Berardinelli-Seip Congenital Lipodystrophy from Two Separate Geographical Regions of Brazil. J Clin Endocrinol Metab. 2004;89:357-61.","journal-title":"J Clin Endocrinol Metab"},{"key":"key20201125094650_B25","doi-asserted-by":"crossref","first-page":"2916","DOI":"10.1210\/jc.2003-030485","article-title":"Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip Congenital Lipodystrophy and Brunzell Syndrome: Phenotype Variability Suggests Important Modifier Effects","volume":"89","author":"Fu","year":"2004","unstructured":"25. Fu M, Kazlauskaite R, Paiva Baracho M de F, Nascimento Santos MG Do, Brand\u00e3o-Neto J, Villares S, et al. Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip Congenital Lipodystrophy and Brunzell Syndrome: Phenotype Variability Suggests Important Modifier Effects. J Clin Endocrinol Metab. 2004;89:2916-22.","journal-title":"J Clin Endocrinol Metab"},{"key":"key20201125094650_B26","doi-asserted-by":"crossref","first-page":"1573","DOI":"10.2337\/diabetes.52.6.1573","article-title":"Prevalence of mutations in AGPAT2 among human lipodystrophies","volume":"52","author":"Magr\u00e9","year":"2003","unstructured":"26. Magr\u00e9 J, Del\u00e9pine M, Van Maldergem L, Robert JJ, Maassen JA, Meier M, et al. Prevalence of mutations in AGPAT2 among human lipodystrophies. Diabetes. 2003;52:1573-8.","journal-title":"Diabetes"},{"key":"key20201125094650_B27","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1590\/S0004-27302011000100007","article-title":"S\u00edndrome de Berardinelli-Seip: descri\u00e7\u00e3o gen\u00e9tica e metab\u00f3lica de cinco pacientes","volume":"55","author":"Barra","year":"2011","unstructured":"27. Barra CB, Savoldelli RD, Manna TD, Kim CA, Magre J, Porta G, et al. S\u00edndrome de Berardinelli-Seip: descri\u00e7\u00e3o gen\u00e9tica e metab\u00f3lica de cinco pacientes. Arq Bras Endocrinol Metabol. 2011;55:54-9.","journal-title":"Arq Bras Endocrinol Metabol"}],"container-title":["Archives of Endocrinology and Metabolism"],"original-title":[],"language":"en","deposited":{"date-parts":[[2020,11,25]],"date-time":"2020-11-25T14:47:02Z","timestamp":1606315622000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.scielo.br\/scielo.php?script=sci_arttext&pid=S2359-39972020000500559&lng=en&nrm=iso&tlng=en"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,8,24]]},"references-count":27,"alternative-id":["10.20945\/2359-3997000000278"],"URL":"https:\/\/doi.org\/10.20945\/2359-3997000000278","relation":{},"ISSN":["2359-3997","2359-4292"],"issn-type":[{"type":"print","value":"2359-3997"},{"type":"electronic","value":"2359-4292"}],"subject":[],"published":{"date-parts":[[2020,8,24]]}}}