Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2005 2
2007 1
2008 1
2009 1
2010 2
2012 1
2013 6
2014 4
2015 2
2016 2
2017 2
2018 4
2019 2
2020 2
2022 3
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

32 results

Results by year

Filters applied: . Clear all
Page 1
The worldwide mutational landscape of Berardinelli-Seip congenital lipodystrophy.
Craveiro Sarmento AS, Ferreira LC, Lima JG, de Azevedo Medeiros LB, Barbosa Cunha PT, Agnez-Lima LF, Galvão Ururahy MA, de Melo Campos JTA. Craveiro Sarmento AS, et al. Mutat Res Rev Mutat Res. 2019 Jul-Sep;781:30-52. doi: 10.1016/j.mrrev.2019.03.005. Epub 2019 Mar 23. Mutat Res Rev Mutat Res. 2019. PMID: 31416577 Review.
Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare disease characterized by the near total absence of body fat at birth. ...
Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare disease characterized by the near total absence of b …
Berardinelli-Seip Congenital Generalised Lipodystrophy.
Cheema HA, Malik HS, Waheed N, Mushtaq I, Fayyaz Z, Anjum MN. Cheema HA, et al. J Coll Physicians Surg Pak. 2018 May;28(5):406-408. doi: 10.29271/jcpsp.2018.05.406. J Coll Physicians Surg Pak. 2018. PMID: 29690976
Berardinelli-Seip congenital lipodystrophy (BSCL) syndrome is a rare genetic disorder caused by dysregulation of glycemic and lipid metabolism. ...
Berardinelli-Seip congenital lipodystrophy (BSCL) syndrome is a rare genetic disorder caused by dysregulation of …
Berardinelli-Seip Congenital Lipodystrophy - A Case Report and Review of Literature.
Munir A, Haider M, Chachar AZK. Munir A, et al. J Coll Physicians Surg Pak. 2022 Jun;32(6):817-819. doi: 10.29271/jcpsp.2022.06.817. J Coll Physicians Surg Pak. 2022. PMID: 35686420 Review.
Berardinelli-Seip Congenital Lipodystrophy (BSCL), also known as congenital generalised lipodystrophy, is a genetic disorder where there is an absolute deficiency of adipose tissue. ...
Berardinelli-Seip Congenital Lipodystrophy (BSCL), also known as congenital generalised lipodystrophy, is a gene …
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy.
Van Maldergem L, Magré J, Khallouf TE, Gedde-Dahl T Jr, Delépine M, Trygstad O, Seemanova E, Stephenson T, Albott CS, Bonnici F, Panz VR, Medina JL, Bogalho P, Huet F, Savasta S, Verloes A, Robert JJ, Loret H, De Kerdanet M, Tubiana-Rufi N, Mégarbané A, Maassen J, Polak M, Lacombe D, Kahn CR, Silveira EL, D'Abronzo FH, Grigorescu F, Lathrop M, Capeau J, O'Rahilly S. Van Maldergem L, et al. J Med Genet. 2002 Oct;39(10):722-33. doi: 10.1136/jmg.39.10.722. J Med Genet. 2002. PMID: 12362029 Free PMC article.
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.
Auer-Grumbach M, Schlotter-Weigel B, Lochmüller H, Strobl-Wildemann G, Auer-Grumbach P, Fischer R, Offenbacher H, Zwick EB, Robl T, Hartl G, Hartung HP, Wagner K, Windpassinger C; Austrian Peripheral Neuropathy Study Group. Auer-Grumbach M, et al. Ann Neurol. 2005 Mar;57(3):415-24. doi: 10.1002/ana.20410. Ann Neurol. 2005. PMID: 15732094
Recently, two missense mutations (N88S, S90L) in the Berardinelli-Seip congenital lipodystrophy gene have been identified in autosomal dominant distal hereditary motor neuropathy and Silver syndrome. ...Our study indicates that the dominant N88S mutati …
Recently, two missense mutations (N88S, S90L) in the Berardinelli-Seip congenital lipodystrophy gene have been i …
Berardinelli Seip Syndrome: A rare case report.
Ashraf S, Masood S, Naz F, Rashid J. Ashraf S, et al. J Pak Med Assoc. 2022 May;72(5):969-971. doi: 10.47391/JPMA.3182. J Pak Med Assoc. 2022. PMID: 35713067 Free article.
Berardinelli Seip Congenital Lipodystrophy (BSCL) or Congenital Generalized Lipodystrophy (CGL) is one of the four subgroups of lipodystrophy syndrome which is characterized by varying degrees of loss of adipose mass in the body. ...
Berardinelli Seip Congenital Lipodystrophy (BSCL) or Congenital Generalized Lipodystrophy (CGL) is one of the fo …
Berardinelli-Seip congenital lipodystrophy: an autosomal recessive disorder with rare association of duodenocolonic polyps.
Agrawala RK, Choudhury AK, Mohanty BK, Baliarsinha AK. Agrawala RK, et al. J Pediatr Endocrinol Metab. 2014 Sep;27(9-10):989-91. doi: 10.1515/jpem-2013-0399. J Pediatr Endocrinol Metab. 2014. PMID: 24825083
Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare autosomal recessive disorder characterized by a nearly complete absence of adipose tissue and generalized muscular appearance. ...
Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare autosomal recessive disorder characterized by a near …
Resistance to leptin-replacement therapy in Berardinelli-Seip congenital lipodystrophy: an immunological origin.
Beltrand J, Lahlou N, Le Charpentier T, Sebag G, Leka S, Polak M, Tubiana-Rufi N, Lacombe D, de Kerdanet M, Huet F, Robert JJ, Chevenne D, Gressens P, Lévy-Marchal C. Beltrand J, et al. Eur J Endocrinol. 2010 Jun;162(6):1083-91. doi: 10.1530/EJE-09-1027. Epub 2010 Mar 17. Eur J Endocrinol. 2010. PMID: 20236991 Clinical Trial.
CONTEXT: Recently, in a 4-month proof-of-concept trial, beneficial metabolic effects were reported in non-diabetic children with Berardinelli-Seip congenital lipodystrophy (BSCL); this information prompted us to hypothesize that long-term leptin-replac …
CONTEXT: Recently, in a 4-month proof-of-concept trial, beneficial metabolic effects were reported in non-diabetic children with Berardin …
32 results