| 1 |
Nurses' knowledge about Berardinelli-Seip Congenital Lipodystrophy. ( 29864145
)
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CAcndido Dantas V.K....de Melo Campos J.T.A.
|
2018 |
| 2 |
Causes of death in patients with Berardinelli-Seip congenital generalized lipodystrophy. ( 29883474
)
|
Lima J.G....Jeronimo S.M.B.
|
2018 |
| 3 |
Impairment of respiratory muscle strength in Berardinelli-Seip congenital lipodystrophy subjects. ( 30208912
)
|
Dantas de Medeiros JL...Ara?jo de Melo Campos JT
|
2018 |
| 4 |
High prevalence of Berardinelli-Seip Congenital Lipodystrophy in Rio Grande do Norte State, Northeast Brazil. ( 29046728
)
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de Azevedo Medeiros L.B....de Melo Campos J.T.A.
|
2017 |
| 5 |
Conversations between insulin and bone: Potential mechanism of high bone density in patients with Berardinelli-Seip Congenital Lipodystrophy. ( 27876139
)
|
Lima J.G....Jeronimo S.M.
|
2016 |
| 6 |
Bone Density in Patients With Berardinelli-Seip Congenital Lipodystrophy Is Higher in Trabecular Sites and in Type 2 Patients. ( 27894728
)
|
Lima J.G....Jeronimo S.M.
|
2016 |
| 7 |
Berardinelli-Seip Congenital Lipodystrophy 2 (BSCL2)/SEIPIN is not required for Brown Adipogenesis but Regulates Brown Adipose Tissue Development and Function. ( 27185876
)
|
Zhou H....Chen W.
|
2016 |
| 8 |
Berardinelli-Seip congenital lipodystrophy 2 regulates adipocyte lipolysis, browning, and energy balance in adult animals. ( 26269358
)
|
Zhou H....Chen W.
|
2015 |
| 9 |
Case report: Dental management of Berardinelli-Seip congenital lipodystrophy. ( 26573975
)
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Bhujel N....Clark H.
|
2015 |
| 10 |
Berardinelli-Seip congenital lipodystrophy in two siblings. ( 25506557
)
|
Rao T.S....Chennamsetty K.
|
2014 |
| 11 |
A very rare cause of acute pancreatitis: Berardinelli-Seip congenital lipodystrophy. ( 25910311
)
|
A^A9lek A....Artan R.
|
2014 |
| 12 |
Berardinelli-Seip congenital lipodystrophy: an autosomal recessive disorder with rare association of duodenocolonic polyps. ( 24825083
)
|
Agrawala R.K....Baliarsinha A.K.
|
2014 |
| 13 |
AGPAT2 gene mutation in a child with Berardinelli-Seip congenital lipodystrophy syndrome. ( 23337016
)
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Rostami P....Rezaei N.
|
2013 |
| 14 |
An incidental finding of striking muscular hypertrophy leading to a diagnosis of Berardinelli Seip Congenital Lipodystrophy. ( 24023365
)
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Hann G....Kapila P.
|
2013 |
| 15 |
Berardinelli-seip congenital lipodystrophy 2/seipin is a cell-autonomous regulator of lipolysis essential for adipocyte differentiation. ( 22269949
)
|
Chen W....Chan L.
|
2012 |
| 16 |
Early course of Berardinelli-Seip congenital lipodystrophy (BSCL). ( 20301053
)
|
Eltermann T....Thomas W.
|
2010 |
| 17 |
Higher adiponectin levels in patients with Berardinelli-Seip congenital lipodystrophy due to seipin as compared with 1-acylglycerol-3-phosphate-o-acyltransferase-2 deficiency. ( 20097706
)
|
Antuna-Puente B....MagrAc J.
|
2010 |
| 18 |
Resistance to leptin-replacement therapy in Berardinelli-Seip congenital lipodystrophy: an immunological origin. ( 20236991
)
|
Beltrand J....LAcvy-Marchal C.
|
2010 |
| 19 |
Complementary mutations in seipin gene in a patient with Berardinelli-Seip congenital lipodystrophy and dystonia: phenotype variability suggests multiple roles of seipin gene. ( 19762912
)
|
Wu Y.R....Chung W.H.
|
2009 |
| 20 |
Clinical and molecular aspects of Berardinelli-Seip Congenital Lipodystrophy (BSCL). ( 19167372
)
|
Gomes K.B....Fernandes A.P.
|
2009 |
| 21 |
Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy. ( 19278620
)
|
Boutet E....Magre J.
|
2009 |
| 22 |
Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome. ( 19226263
)
|
Miranda D.M....De Marco L.
|
2009 |
| 23 |
Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation. ( 19041432
)
|
Friguls B....Pintos-Morell G.
|
2009 |
| 24 |
The human lipodystrophy gene product Berardinelli-Seip congenital lipodystrophy 2/seipin plays a key role in adipocyte differentiation. ( 19574402
)
|
Chen W....Chan L.
|
2009 |
| 25 |
Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy. ( 18211975
)
|
Kim C.A....Magre J.
|
2008 |
| 26 |
Founder effect of the 669insA mutation in BSCL2 gene causing Berardinelli-Seip congenital lipodystrophy in a cluster from Brazil. ( 17535271
)
|
Gomes K.B....Fernandes A.P.
|
2007 |
| 27 |
Berardinelli-Seip congenital lipodystrophy. ( 16735770
)
|
Mandal K....Khan A.
|
2006 |
| 28 |
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. ( 15732094
)
|
Auer-Grumbach M....Windpassinger C.
|
2005 |
| 29 |
Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli-Seip congenital lipodystrophy patients. ( 16435205
)
|
Gomes K.B....Fernandes A.P.
|
2005 |
| 30 |
Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects. ( 15181077
)
|
Fu M....Shuldiner A.R.
|
2004 |
| 31 |
Mutations in the seipin and AGPAT2 genes clustering in consanguineous families with Berardinelli-Seip congenital lipodystrophy from two separate geographical regions of Brazil. ( 14715872
)
|
Gomes K.B....Pardini V.C.
|
2004 |
| 32 |
Molecular analysis of Berardinelli-Seip congenital lipodystrophy in Oman: evidence for multiple loci. ( 11916958
)
|
Heathcote K....Jeffery S.
|
2002 |
| 33 |
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy. ( 12362029
)
|
Van Maldergem L....O'rahilly S.
|
2002 |
| 34 |
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. ( 11479539
)
|
Magre J....Capeau J.
|
2001 |
| 35 |
Berardinelli-Seip Congenital Lipodystrophy ( 20301391
)
|
Pagon R.A....Stephens K.
|
1993 |
