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Congenital generalized lipodystrophies--new insights into metabolic dysfunction.
Patni N, Garg A. Patni N, et al. Nat Rev Endocrinol. 2015 Sep;11(9):522-34. doi: 10.1038/nrendo.2015.123. Epub 2015 Aug 4. Nat Rev Endocrinol. 2015. PMID: 26239609 Review.
A Novel Syndrome of Generalized Lipodystrophy Associated With Pilocytic Astrocytoma.
Patni N, Alves C, von Schnurbein J, Wabitsch M, Tannin G, Rakheja D, Garg A. Patni N, et al. J Clin Endocrinol Metab. 2015 Oct;100(10):3603-6. doi: 10.1210/jc.2015-2476. Epub 2015 Aug 7. J Clin Endocrinol Metab. 2015. PMID: 26252356 Free PMC article.
The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline.
Brown RJ, Araujo-Vilar D, Cheung PT, Dunger D, Garg A, Jack M, Mungai L, Oral EA, Patni N, Rother KI, von Schnurbein J, Sorkina E, Stanley T, Vigouroux C, Wabitsch M, Williams R, Yorifuji T. Brown RJ, et al. Among authors: patni n. J Clin Endocrinol Metab. 2016 Dec;101(12):4500-4511. doi: 10.1210/jc.2016-2466. Epub 2016 Oct 6. J Clin Endocrinol Metab. 2016. PMID: 27710244 Free PMC article. Review.
Juvenile-onset generalized lipodystrophy due to a novel heterozygous missense LMNA mutation affecting lamin C.
Patni N, Xing C, Agarwal AK, Garg A. Patni N, et al. Am J Med Genet A. 2017 Sep;173(9):2517-2521. doi: 10.1002/ajmg.a.38341. Epub 2017 Jul 7. Am J Med Genet A. 2017. PMID: 28686329 Free PMC article.
A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation.
Hussain I, Patni N, Ueda M, Sorkina E, Valerio CM, Cochran E, Brown RJ, Peeden J, Tikhonovich Y, Tiulpakov A, Stender SRS, Klouda E, Tayeh MK, Innis JW, Meyer A, Lal P, Godoy-Matos AF, Teles MG, Adams-Huet B, Rader DJ, Hegele RA, Oral EA, Garg A. Hussain I, et al. Among authors: patni n. J Clin Endocrinol Metab. 2018 Mar 1;103(3):1005-1014. doi: 10.1210/jc.2017-02078. J Clin Endocrinol Metab. 2018. PMID: 29267953 Free PMC article.
Orlistat Therapy for Children With Type 1 Hyperlipoproteinemia: A Randomized Clinical Trial.
Patni N, Quittner C, Garg A. Patni N, et al. J Clin Endocrinol Metab. 2018 Jun 1;103(6):2403-2407. doi: 10.1210/jc.2018-00369. J Clin Endocrinol Metab. 2018. PMID: 29659879 Free PMC article. Clinical Trial.
Regional Body Fat Changes and Metabolic Complications in Children With Dunnigan Lipodystrophy-Causing LMNA Variants.
Patni N, Li X, Adams-Huet B, Vasandani C, Gomez-Diaz RA, Garg A. Patni N, et al. J Clin Endocrinol Metab. 2019 Apr 1;104(4):1099-1108. doi: 10.1210/jc.2018-01922. J Clin Endocrinol Metab. 2019. PMID: 30418556 Free PMC article.
Postmortem Findings in a Young Man With Congenital Generalized Lipodystrophy, Type 4 Due to CAVIN1 Mutations.
Patni N, Vuitch F, Garg A. Patni N, et al. J Clin Endocrinol Metab. 2019 Mar 1;104(3):957-960. doi: 10.1210/jc.2018-01331. J Clin Endocrinol Metab. 2019. PMID: 30476128 Free PMC article.
Lipodystrophies, dyslipidaemias and atherosclerotic cardiovascular disease.
Hussain I, Patni N, Garg A. Hussain I, et al. Among authors: patni n. Pathology. 2019 Feb;51(2):202-212. doi: 10.1016/j.pathol.2018.11.004. Epub 2018 Dec 27. Pathology. 2019. PMID: 30595509 Free PMC article. Review.
A novel autosomal recessive lipodystrophy syndrome due to homozygous LMNA variant.
Patni N, Hatab S, Xing C, Zhou Z, Quittner C, Garg A. Patni N, et al. J Med Genet. 2020 Jun;57(6):422-426. doi: 10.1136/jmedgenet-2019-106395. Epub 2019 Dec 19. J Med Genet. 2020. PMID: 31857427
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