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All publications related to disease Familial partial lipodystrophy (Dunnigan type). To link directly to a specific first author surname click on the required letter below.
ACGHIKLMORSV A Araújo-Vilar D, Lado-Abeal J, Palos-Paz F, Lattanzi G, Bandín MA, Bellido D, Domínguez-Gerpe L, Calvo C, Pérez O, Ramazanova A, Martínez-Sánchez N, Victoria B, Costa-Freitas AT
A novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin-resistance, aortic stenosis and hypertrophic cardiomyopathy.
Clin Endocrinol (Oxf) 2007 () - PubMed: 18031308 Araújo-Vilar D, Loidi L, Domínguez F, Cabezas-Cerrato J
Phenotypic gender differences in subjects with familial partial lipodystrophy (Dunnigan variety) due to a nuclear lamin A/C R482W mutation.
Horm Metab Res 2003 35(1) 29-35 PubMed: 12669268 Back to index C Cao H, Hegele RA
Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.
Hum Mol Genet 2000 9(1) 109-112 PubMed: 10587585 Back to index G Gambineri A, Semple RK, Forlani G, Genghini S, Grassi I, Hyden CS, Pagotto U, O'Rahilly S, Pasquali R
Monogenic polycystic ovary syndrome due to a mutation in the lamin A/C gene is sensitive to thiazolidinediones but not to metformin.
Eur J Endocrinol 2008 159(3) 347-353 PubMed: 18728124 Garg A, Speckman RA, Bowcock AM
Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene.
Am J Med 2002 112(7) 549-555 PubMed: 12015247 Back to index H Hegele RA, Al-Attar SA, Rutt BK
Obstructive sleep apnea in 2 women with familial partial lipodystrophy due to a heterozygous LMNA R482Q mutation.
CMAJ 2007 177(7) 743-745 PubMed: 17893350 Hegele RA, Anderson CM, Cao H
Lamin A/C mutation in a woman and her two daughters with Dunnigan-type partial lipodystrophy and insulin resistance.
Diabetes Care 2000 23(2) 258-259 PubMed: 10868844 Hegele RA, Cao H, Anderson CM, Hramiak IM
Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy.
J Clin Endocrinol Metab 2000 85(9) 3431-3435 PubMed: 10999845 Back to index I Imachi H, Murao K, Ohtsuka S, Fujiwara M, Muraoka T, Hosokawa H, Ishida T
A case of Dunnigan-type familial partial lipodystrophy (FPLD) due to lamin A/C (LMNA) mutations complicated by end-stage renal disease.
Endocrine 2008 () - PubMed: 19011997 Back to index K Keller J, Subramanyam L, Simha V, Gustofson R, Minjarez D, Garg A
Lipodystrophy: an unusual diagnosis in a case of oligomenorrhea and hirsutism.
Obstet Gynecol 2009 114(2 Pt 2) 427-431 PubMed: 19622949 Back to index L Lanktree M, Cao H, Rabkin SW, Hanna A, Hegele RA
Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660).
Clin Genet 2007 71(2) 183-186 PubMed: 17250669 Lüdtke A, Genschel J, Brabant G, Bauditz J, Taupitz M, Koch M, Wermke W, Worman HJ, Schmidt HH
Hepatic steatosis in Dunnigan-type familial partial lipodystrophy.
Am J Gastroenterol 2005 100(10) 2218-2224 PubMed: 16181372 Back to index M Moreau F, Boullu-Sanchis S, Vigouroux C, Lucescu C, Lascols O, Sapin R, Ruimy D, Guerci B, Pinget M, Jeandidier N
Efficacy of pioglitazone in familial partial lipodystrophy of the Dunnigan type: a case report.
Diabetes Metab 2007 33(5) 385-389 PubMed: 17936664 Morel CF, Thomas MA, Cao H, O'Neil CH, Pickering JG, Foulkes WD, Hegele RA
A LMNA splicing mutation in two sisters with severe Dunnigan-type familial partial lipodystrophy type 2.
J Clin Endocrinol Metab 2006 91(7) 2689-2695 PubMed: 16636128 Muchir A, Medioni J, Laluc M, Massart C, Arimura T, van der Kooi AJ, Desguerre I, Mayer M, Ferrer X, Briault S, Hirano M, Worman HJ, Mallet A, Wehnert M, Schwartz K, Bonne G
Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.
Muscle Nerve 2004 30(4) 444-450 PubMed: 15372542 Muschke P, Kölsch U, Jakubiczka S, Wieland I, Brune T, Wieacker P
The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy.
Am J Med Genet A 2007 143(23) 2810-2814 PubMed: 18041775 Back to index O Owen KR, Donohoe M, Ellard S, Hattersley AT
Response to treatment with rosiglitazone in familial partial lipodystrophy due to a mutation in the LMNA gene.
Diabet Med 2003 20(10) 823-827 PubMed: 14510863 Owen KR, Stride A, Ellard S, Hattersley AT
Etiological investigation of diabetes in young adults presenting with apparent type 2 diabetes.
Diabetes Care 2003 26(7) 2088-2093 PubMed: 12832318 Back to index R Rankin J, Auer-Grumbach M, Bagg W, Colclough K, Nguyen TD, Fenton-May J, Hattersley A, Hudson J, Jardine P, Josifova D, Longman C, McWilliam R, Owen K, Walker M, Wehnert M, Ellard S
Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C.
Am J Med Genet A 2008 146A(12) 1530-1542 PubMed: 18478590 Back to index S Schmidt HH, Genschel J, Baier P, Schmidt M, Ockenga J, Tietge UJ, Pröpsting M, Büttner C, Manns MP, Lochs H, Brabant G
Dyslipemia in familial partial lipodystrophy caused by an R482W mutation in the LMNA gene.
J Clin Endocrinol Metab 2001 86(5) 2289-2295 PubMed: 11344241 Shackleton S, Lloyd DJ, Jackson SN, Evans R, Niermeijer MF, Singh BM, Schmidt H, Brabant G, Kumar S, Durrington PN, Gregory S, O'Rahilly S, Trembath RC
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.
Nat Genet 2000 24(2) 153-156 PubMed: 10655060 Speckman RA, Garg A, Du F, Bennett L, Veile R, Arioglu E, Taylor SI, Lovett M, Bowcock AM
Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C.
Am J Hum Genet 2000 66(4) 1192-1198 PubMed: 10739751 Back to index V van der Kooi AJ, Bonne G, Eymard B, Duboc D, Talim B, Van der Valk M, Reiss P, Richard P, Demay L, Merlini L, Schwartz K, Busch HF, de Visser M
Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy.
Neurology 2002 59(4) 620-623 PubMed: 12196663 Vantyghem MC, Faivre-Defrance F, Marcelli-Tourvieille S, Fermon C, Evrard A, Bourdelle-Hego MF, Vigouroux C, Defebvre L, Delemer B, Wemeau JL
Familial partial lipodystrophy due to the LMNA R482W mutation with multinodular goitre, extrapyramidal syndrome and primary hyperaldosteronism.
Clin Endocrinol (Oxf) 2007 67(2) 247-249 PubMed: 17524034 Vantyghem MC, Pigny P, Maurage CA, Rouaix-Emery N, Stojkovic T, Cuisset JM, Millaire A, Lascols O, Vermersch P, Wemeau JL, Capeau J, Vigouroux C
Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalities.
J Clin Endocrinol Metab 2004 89(11) 5337-5346 PubMed: 15531479 Vigouroux C, Magré J, Vantyghem MC, Bourut C, Lascols O, Shackleton S, Lloyd DJ, Guerci B, Padova G, Valensi P, Grimaldi A, Piquemal R, Touraine P, Trembath RC, Capeau J
Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy.
Diabetes 2000 49(11) 1958-1962 PubMed: 11078466 Back to index This page was last modified: April 17 2009 14:28:35. |
