385 related articles for article (PubMed ID: 19169477)
1. Atypical generalized lipoatrophy and severe insulin resistance due to a heterozygous LMNA p.T10I mutation.
Mory PB; Crispim F; Kasamatsu T; Gabbay MA; Dib SA; Moisés RS
Arq Bras Endocrinol Metabol; 2008 Nov; 52(8):1252-6. PubMed ID: 19169477
[TBL] [Abstract][Full Text] [Related]
2. Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations.
Mory PB; Crispim F; Freire MB; Salles JE; Valério CM; Godoy-Matos AF; Dib SA; Moisés RS
Eur J Endocrinol; 2012 Sep; 167(3):423-31. PubMed ID: 22700598
[TBL] [Abstract][Full Text] [Related]
3. 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
J Clin Endocrinol Metab; 2018 Mar; 103(3):1005-1014. PubMed ID: 29267953
[TBL] [Abstract][Full Text] [Related]
4. 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.
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
Diabetes; 2000 Nov; 49(11):1958-62. PubMed ID: 11078466
[TBL] [Abstract][Full Text] [Related]
5. A subtype of laminopathies: Generalized lipodystrophy-associated progeroid syndrome caused by LMNA gene c.29C>T mutation.
Huang S; Zhang Y; Zhan Z; Gong S
J Diabetes Investig; 2023 Oct; 14(10):1221-1225. PubMed ID: 37448194
[TBL] [Abstract][Full Text] [Related]
6. A novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin resistance, aortic stenosis and hypertrophic cardiomyopathy.
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
Clin Endocrinol (Oxf); 2008 Jul; 69(1):61-8. PubMed ID: 18031308
[TBL] [Abstract][Full Text] [Related]
7. Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalities.
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
J Clin Endocrinol Metab; 2004 Nov; 89(11):5337-46. PubMed ID: 15531479
[TBL] [Abstract][Full Text] [Related]
8. Familial partial lipodystrophy associated with the heterozygous LMNA mutation 1445G>A (Arg482Gln) in a Polish family.
Drac H; Madej-Pilarczyk A; Gospodarczyk-Szot K; Gaweł M; Kwieciński H; Hausmanowa-Petrusewicz I
Neurol Neurochir Pol; 2010; 44(3):291-6. PubMed ID: 20625965
[TBL] [Abstract][Full Text] [Related]
9. New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome.
Decaudain A; Vantyghem MC; Guerci B; Hécart AC; Auclair M; Reznik Y; Narbonne H; Ducluzeau PH; Donadille B; Lebbé C; Béréziat V; Capeau J; Lascols O; Vigouroux C
J Clin Endocrinol Metab; 2007 Dec; 92(12):4835-44. PubMed ID: 17711925
[TBL] [Abstract][Full Text] [Related]
10. Juvenile-onset generalized lipodystrophy due to a novel heterozygous missense LMNA mutation affecting lamin C.
Patni N; Xing C; Agarwal AK; Garg A
Am J Med Genet A; 2017 Sep; 173(9):2517-2521. PubMed ID: 28686329
[TBL] [Abstract][Full Text] [Related]
11. A case of familial partial lipodystrophy caused by a novel lamin A/C (LMNA) mutation in exon 1 (D47N).
Kutbay NO; Yurekli BS; Onay H; Altay CT; Atik T; Hekimsoy Z; Saygili F; Akinci B
Eur J Intern Med; 2016 Apr; 29():37-9. PubMed ID: 26775134
[TBL] [Abstract][Full Text] [Related]
12. A-type lamin-linked lipodystrophies.
Vigouroux C; Capeau J
Novartis Found Symp; 2005; 264():166-77; discussion 177-82, 227-30. PubMed ID: 15773753
[TBL] [Abstract][Full Text] [Related]
13. Clinical presentations, metabolic abnormalities and end-organ complications in patients with familial partial lipodystrophy.
Akinci B; Onay H; Demir T; Savas-Erdeve Ş; Gen R; Simsir IY; Keskin FE; Erturk MS; Uzum AK; Yaylali GF; Ozdemir NK; Atik T; Ozen S; Yurekli BS; Apaydin T; Altay C; Akinci G; Demir L; Comlekci A; Secil M; Oral EA
Metabolism; 2017 Jul; 72():109-119. PubMed ID: 28641778
[TBL] [Abstract][Full Text] [Related]
14. A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy.
Caux F; Dubosclard E; Lascols O; Buendia B; Chazouillères O; Cohen A; Courvalin JC; Laroche L; Capeau J; Vigouroux C; Christin-Maitre S
J Clin Endocrinol Metab; 2003 Mar; 88(3):1006-13. PubMed ID: 12629077
[TBL] [Abstract][Full Text] [Related]
15. Phenotypic heterogeneity in patients with familial partial lipodystrophy (dunnigan variety) related to the site of missense mutations in lamin a/c gene.
Garg A; Vinaitheerthan M; Weatherall PT; Bowcock AM
J Clin Endocrinol Metab; 2001 Jan; 86(1):59-65. PubMed ID: 11231979
[TBL] [Abstract][Full Text] [Related]
16. Familial partial lipodystrophy: a monogenic form of the insulin resistance syndrome.
Hegele RA
Mol Genet Metab; 2000 Dec; 71(4):539-44. PubMed ID: 11136544
[TBL] [Abstract][Full Text] [Related]
17. [A complex case of diabetes due to LMNA mutation].
Ambonville C; Bouldouyre MA; Laforêt P; Richard P; Benveniste O; Vigouroux C
Rev Med Interne; 2017 Oct; 38(10):695-699. PubMed ID: 28545855
[TBL] [Abstract][Full Text] [Related]
18. Dunnigan-type familial partial lipodystrophy associated with the heterozygous R482W mutation in LMNA gene - case study of three women from one family.
Nabrdalik K; Strózik A; Minkina-Pędras M; Jarosz-Chobot P; Młynarski W; Grzeszczak W; Gumprecht J
Endokrynol Pol; 2013; 64(4):306-11. PubMed ID: 24002959
[TBL] [Abstract][Full Text] [Related]
19. Potential association of LMNA-associated generalized lipodystrophy with juvenile dermatomyositis.
Sahinoz M; Khairi S; Cuttitta A; Brady GF; Rupani A; Meral R; Tayeh MK; Thomas P; Riebschleger M; Camelo-Piragua S; Innis JW; Bishr Omary M; Michele DE; Oral EA
Clin Diabetes Endocrinol; 2018; 4():6. PubMed ID: 29610677
[TBL] [Abstract][Full Text] [Related]
20. Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy.
Hegele RA; Cao H; Anderson CM; Hramiak IM
J Clin Endocrinol Metab; 2000 Sep; 85(9):3431-5. PubMed ID: 10999845
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]