Congenital generalized lipodystrophy (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Congenital generalized lipodystrophy" in English language version.

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21nih.gov

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14doi.org

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3semanticscholar.org

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2endojournals.org

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1rarediseases.org

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1nordphysicianguides.org

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Berardinelli, W (February 1954). "An undiagnosed endocrinometabolic syndrome: Report of 2 cases". Journal of Clinical Endocrinology and Metabolism. 14 (2): 193–204. doi:10.1210/jcem-14-2-193. PMID 13130666. Archived from the original on 2013-04-14.

doi.org

Garg, A (Mar 2004). "Acquired and inherited lipodystrophies". The New England Journal of Medicine. 350 (12): 1220–1234. doi:10.1056/NEJMra025261. PMID 15028826.
Friguls, B; Coroleu, W; del Alcazar, R; Hilbert, P; et al. (2009). "Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation". Eur J Med Genet. 52 (1): 14–6. doi:10.1016/j.ejmg.2008.10.006. hdl:2268/21539. PMID 19041432.
Viégas, RF; Diniz, RV; Viégas, TM; Lira, EB; et al. (September 2000). "Cardiac involvement in total generalized lipodystrophy (Berardinelli- Seip syndrome)". Arq. Bras. Cardiol. 75 (3): 243–8. doi:10.1590/s0066-782x2000000900006. PMID 11018810. Archived from the original (PDF) on 2021-10-17. Retrieved 2019-08-18.
Khandpur, S (2011). "Congenital generalized lipodystrophy of Berardinelli-Seip type: A rare case". Indian Journal of Dermatology, Venereology and Leprology. 77 (3): 402. doi:10.4103/0378-6323.79740. PMID 21508592.
Agarwal, AK; Arioglu, E; de Almeida, S; Akkoc, N; et al. (May 2002). "AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34". Nature Genetics. 31 (1): 21–23. doi:10.1038/ng880. PMID 11967537.
Parton, RG; Simons, K (2007). "The multiple faces of caveolae". Nature Reviews Molecular Cell Biology. 8 (3): 185–94. doi:10.1038/nrm2122. PMID 17318224. S2CID 10830810.
Kim, CA; Delépine, M; Boutet, E; et al. (April 2008). "Association of a Homozygous Nonsense Caveolin-1 Mutation with Berardinelli-Seip Congenital Lipodystrophy". Journal of Clinical Endocrinology & Metabolism. 93 (4): 1129–1134. doi:10.1210/jc.2007-1328. PMID 18211975.
Petersen, KF; Oral, EA; Dufour, S; Befroy, Douglas; et al. (May 2002). "Leptin reverses insulin resistance and hepatic steatosis in patients with severe lipodystrophy". Journal of Clinical Investigation. 109 (10): 1345–1350. doi:10.1172/JCI15001. PMC 150981. PMID 12021250.
Gomes, K; Pardini, VC; Fernandes, AP (April 2009). "Clinical and molecular aspects of Berardinelli–Seip Congenital Lipodystrophy (BSCL)". Clinica Chimica Acta. 402 (1–2): 1–6. doi:10.1016/j.cca.2008.12.032. PMID 19167372.
Berardinelli, W (February 1954). "An undiagnosed endocrinometabolic syndrome: Report of 2 cases". Journal of Clinical Endocrinology and Metabolism. 14 (2): 193–204. doi:10.1210/jcem-14-2-193. PMID 13130666. Archived from the original on 2013-04-14.
Seip, M (November 1959). "Lipodystrophy and gigantism with associated endocrine manifestations. A new diencephalic syndrome?". Acta Paediatrica. 48: 555–74. doi:10.1111/j.1651-2227.1959.tb17558.x. PMID 14444642. S2CID 27039847.
Garg, A; Ross, W; Barnes, R; et al. (1999). "A gene for congenital generalized lipodystrophy maps to chromosome 9q34". Journal of Clinical Endocrinology and Metabolism. 84 (9): 3390–3394. doi:10.1210/jcem.84.9.6103. PMID 10487716.
Magre, J; Delepine, M; Khallouf, E; et al. (2001). "Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13". Nature Genetics. 28 (4): 365–370. doi:10.1038/ng585. PMID 11479539. S2CID 7718256.
Shastry, S; Delgado, MR; Dirik, E; Turkmen, M; et al. (2010). "Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations". American Journal of Medical Genetics Part A. 152A (9): 2245–53. doi:10.1002/ajmg.a.33578. PMC 2930069. PMID 20684003.

endojournals.org

jcem.endojournals.org

Kim, CA; Delépine, M; Boutet, E; et al. (April 2008). "Association of a Homozygous Nonsense Caveolin-1 Mutation with Berardinelli-Seip Congenital Lipodystrophy". Journal of Clinical Endocrinology & Metabolism. 93 (4): 1129–1134. doi:10.1210/jc.2007-1328. PMID 18211975.
Berardinelli, W (February 1954). "An undiagnosed endocrinometabolic syndrome: Report of 2 cases". Journal of Clinical Endocrinology and Metabolism. 14 (2): 193–204. doi:10.1210/jcem-14-2-193. PMID 13130666. Archived from the original on 2013-04-14.

handle.net

hdl.handle.net

Friguls, B; Coroleu, W; del Alcazar, R; Hilbert, P; et al. (2009). "Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation". Eur J Med Genet. 52 (1): 14–6. doi:10.1016/j.ejmg.2008.10.006. hdl:2268/21539. PMID 19041432.

nih.gov

pubmed.ncbi.nlm.nih.gov

Garg, A (Mar 2004). "Acquired and inherited lipodystrophies". The New England Journal of Medicine. 350 (12): 1220–1234. doi:10.1056/NEJMra025261. PMID 15028826.
Friguls, B; Coroleu, W; del Alcazar, R; Hilbert, P; et al. (2009). "Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation". Eur J Med Genet. 52 (1): 14–6. doi:10.1016/j.ejmg.2008.10.006. hdl:2268/21539. PMID 19041432.
Gürakan, F; Koçak, N; Yüce, A (1995). "Congenital generalized lipodystrophy: Berardinelli syndrome. Report of two siblings". The Turkish Journal of Pediatrics. 37 (3): 241–6. PMID 7502362.
Viégas, RF; Diniz, RV; Viégas, TM; Lira, EB; et al. (September 2000). "Cardiac involvement in total generalized lipodystrophy (Berardinelli- Seip syndrome)". Arq. Bras. Cardiol. 75 (3): 243–8. doi:10.1590/s0066-782x2000000900006. PMID 11018810. Archived from the original (PDF) on 2021-10-17. Retrieved 2019-08-18.
Khandpur, S (2011). "Congenital generalized lipodystrophy of Berardinelli-Seip type: A rare case". Indian Journal of Dermatology, Venereology and Leprology. 77 (3): 402. doi:10.4103/0378-6323.79740. PMID 21508592.
Van Maldergem, Lionel (1993). "Berardinelli-Seip Congenital Lipodystrophy". University of Washington, Seattle. PMID 20301391. Retrieved September 5, 2012.
Agarwal, AK; Arioglu, E; de Almeida, S; Akkoc, N; et al. (May 2002). "AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34". Nature Genetics. 31 (1): 21–23. doi:10.1038/ng880. PMID 11967537.
Parton, RG; Simons, K (2007). "The multiple faces of caveolae". Nature Reviews Molecular Cell Biology. 8 (3): 185–94. doi:10.1038/nrm2122. PMID 17318224. S2CID 10830810.
Kim, CA; Delépine, M; Boutet, E; et al. (April 2008). "Association of a Homozygous Nonsense Caveolin-1 Mutation with Berardinelli-Seip Congenital Lipodystrophy". Journal of Clinical Endocrinology & Metabolism. 93 (4): 1129–1134. doi:10.1210/jc.2007-1328. PMID 18211975.
Petersen, KF; Oral, EA; Dufour, S; Befroy, Douglas; et al. (May 2002). "Leptin reverses insulin resistance and hepatic steatosis in patients with severe lipodystrophy". Journal of Clinical Investigation. 109 (10): 1345–1350. doi:10.1172/JCI15001. PMC 150981. PMID 12021250.
Gomes, K; Pardini, VC; Fernandes, AP (April 2009). "Clinical and molecular aspects of Berardinelli–Seip Congenital Lipodystrophy (BSCL)". Clinica Chimica Acta. 402 (1–2): 1–6. doi:10.1016/j.cca.2008.12.032. PMID 19167372.
Berardinelli, W (February 1954). "An undiagnosed endocrinometabolic syndrome: Report of 2 cases". Journal of Clinical Endocrinology and Metabolism. 14 (2): 193–204. doi:10.1210/jcem-14-2-193. PMID 13130666. Archived from the original on 2013-04-14.
Seip, M (November 1959). "Lipodystrophy and gigantism with associated endocrine manifestations. A new diencephalic syndrome?". Acta Paediatrica. 48: 555–74. doi:10.1111/j.1651-2227.1959.tb17558.x. PMID 14444642. S2CID 27039847.
Garg, A; Ross, W; Barnes, R; et al. (1999). "A gene for congenital generalized lipodystrophy maps to chromosome 9q34". Journal of Clinical Endocrinology and Metabolism. 84 (9): 3390–3394. doi:10.1210/jcem.84.9.6103. PMID 10487716.
Magre, J; Delepine, M; Khallouf, E; et al. (2001). "Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13". Nature Genetics. 28 (4): 365–370. doi:10.1038/ng585. PMID 11479539. S2CID 7718256.
Shastry, S; Delgado, MR; Dirik, E; Turkmen, M; et al. (2010). "Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations". American Journal of Medical Genetics Part A. 152A (9): 2245–53. doi:10.1002/ajmg.a.33578. PMC 2930069. PMID 20684003.

ncbi.nlm.nih.gov

Van Maldergem, Lionel (1993). "Berardinelli-Seip Congenital Lipodystrophy". University of Washington, Seattle. PMID 20301391. Retrieved September 5, 2012.
Petersen, KF; Oral, EA; Dufour, S; Befroy, Douglas; et al. (May 2002). "Leptin reverses insulin resistance and hepatic steatosis in patients with severe lipodystrophy". Journal of Clinical Investigation. 109 (10): 1345–1350. doi:10.1172/JCI15001. PMC 150981. PMID 12021250.
Shastry, S; Delgado, MR; Dirik, E; Turkmen, M; et al. (2010). "Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations". American Journal of Medical Genetics Part A. 152A (9): 2245–53. doi:10.1002/ajmg.a.33578. PMC 2930069. PMID 20684003.

ghr.nlm.nih.gov

Reference, Genetics Home. "congenital generalized lipodystrophy". Genetics Home Reference. Retrieved 2017-05-01.
"PTRF". Genetics Home Reference. U.S. National Library of Medicine. Retrieved November 7, 2012.

nordphysicianguides.org

"Lipodystrophy Disorders – Inherited Lipodystrophies – NORD Physician Guides – Rare Disease Resources for Medical Professionals". NORD Physician Guides – Rare Disease Resources for Medical Professionals. Archived from the original on 2017-03-10. Retrieved 2017-05-01.

rarediseases.org

"Congenital Generalized Lipodystrophy".

semanticscholar.org

api.semanticscholar.org

Parton, RG; Simons, K (2007). "The multiple faces of caveolae". Nature Reviews Molecular Cell Biology. 8 (3): 185–94. doi:10.1038/nrm2122. PMID 17318224. S2CID 10830810.
Seip, M (November 1959). "Lipodystrophy and gigantism with associated endocrine manifestations. A new diencephalic syndrome?". Acta Paediatrica. 48: 555–74. doi:10.1111/j.1651-2227.1959.tb17558.x. PMID 14444642. S2CID 27039847.
Magre, J; Delepine, M; Khallouf, E; et al. (2001). "Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13". Nature Genetics. 28 (4): 365–370. doi:10.1038/ng585. PMID 11479539. S2CID 7718256.

ulg.ac.be

orbi.ulg.ac.be

Friguls, B; Coroleu, W; del Alcazar, R; Hilbert, P; et al. (2009). "Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation". Eur J Med Genet. 52 (1): 14–6. doi:10.1016/j.ejmg.2008.10.006. hdl:2268/21539. PMID 19041432.

unifesp.br

repositorio.unifesp.br

Viégas, RF; Diniz, RV; Viégas, TM; Lira, EB; et al. (September 2000). "Cardiac involvement in total generalized lipodystrophy (Berardinelli- Seip syndrome)". Arq. Bras. Cardiol. 75 (3): 243–8. doi:10.1590/s0066-782x2000000900006. PMID 11018810. Archived from the original (PDF) on 2021-10-17. Retrieved 2019-08-18.

web.archive.org

"Lipodystrophy Disorders – Inherited Lipodystrophies – NORD Physician Guides – Rare Disease Resources for Medical Professionals". NORD Physician Guides – Rare Disease Resources for Medical Professionals. Archived from the original on 2017-03-10. Retrieved 2017-05-01.
Viégas, RF; Diniz, RV; Viégas, TM; Lira, EB; et al. (September 2000). "Cardiac involvement in total generalized lipodystrophy (Berardinelli- Seip syndrome)". Arq. Bras. Cardiol. 75 (3): 243–8. doi:10.1590/s0066-782x2000000900006. PMID 11018810. Archived from the original (PDF) on 2021-10-17. Retrieved 2019-08-18.