369 related articles for article (PubMed ID: 26176221)
1. A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome.
Schrauwen I; Szelinger S; Siniard AL; Kurdoglu A; Corneveaux JJ; Malenica I; Richholt R; Van Camp G; De Both M; Swaminathan S; Turk M; Ramsey K; Craig DW; Narayanan V; Huentelman MJ
PLoS One; 2015; 10(7):e0131797. PubMed ID: 26176221
[TBL] [Abstract][Full Text] [Related]
2. Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy.
Kim CA; Delépine M; Boutet E; El Mourabit H; Le Lay S; Meier M; Nemani M; Bridel E; Leite CC; Bertola DR; Semple RK; O'Rahilly S; Dugail I; Capeau J; Lathrop M; Magré J
J Clin Endocrinol Metab; 2008 Apr; 93(4):1129-34. PubMed ID: 18211975
[TBL] [Abstract][Full Text] [Related]
3. Biallelic CAV1 null variants induce congenital generalized lipodystrophy with achalasia.
Karhan AN; Zammouri J; Auclair M; Capel E; Apaydin FD; Ates F; Verpont MC; Magré J; Fève B; Lascols O; Usta Y; Jéru I; Vigouroux C
Eur J Endocrinol; 2021 Nov; 185(6):841-854. PubMed ID: 34643546
[TBL] [Abstract][Full Text] [Related]
4. Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).
Elouej S; Beleza-Meireles A; Caswell R; Colclough K; Ellard S; Desvignes JP; Béroud C; Lévy N; Mohammed S; De Sandre-Giovannoli A
Metabolism; 2017 Jun; 71():213-225. PubMed ID: 28521875
[TBL] [Abstract][Full Text] [Related]
5. Characterization of a caveolin-1 mutation associated with both pulmonary arterial hypertension and congenital generalized lipodystrophy.
Han B; Copeland CA; Kawano Y; Rosenzweig EB; Austin ED; Shahmirzadi L; Tang S; Raghunathan K; Chung WK; Kenworthy AK
Traffic; 2016 Dec; 17(12):1297-1312. PubMed ID: 27717241
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Genotype-phenotype correlations of Berardinelli-Seip congenital lipodystrophy and novel candidate genes prediction.
Ren M; Shi J; Jia J; Guo Y; Ni X; Shi T
Orphanet J Rare Dis; 2020 Apr; 15(1):108. PubMed ID: 32349771
[TBL] [Abstract][Full Text] [Related]
8. Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.
Graul-Neumann LM; Kienitz T; Robinson PN; Baasanjav S; Karow B; Gillessen-Kaesbach G; Fahsold R; Schmidt H; Hoffmann K; Passarge E
Am J Med Genet A; 2010 Nov; 152A(11):2749-55. PubMed ID: 20979188
[TBL] [Abstract][Full Text] [Related]
9. Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome.
Garg A; Kircher M; Del Campo M; Amato RS; Agarwal AK;
Am J Med Genet A; 2015 Aug; 167A(8):1796-806. PubMed ID: 25898808
[TBL] [Abstract][Full Text] [Related]
10. Further delineation of AGPAT2 and BSCL2 related congenital generalized lipodystrophy in young infants.
Liu Y; Li D; Ding Y; Kang L; Jin Y; Song J; Li H; Yang Y
Eur J Med Genet; 2019 Sep; 62(9):103542. PubMed ID: 30266686
[TBL] [Abstract][Full Text] [Related]
11. AGPAT2 gene mutation in a child with Berardinelli-Seip congenital lipodystrophy syndrome.
Rostami P; Nakhaeimoghadam M; Bijani FM; Sotoudeh A; Rabbani A; Hilbert P; Rezaei N
Ann Endocrinol (Paris); 2013 Feb; 74(1):59-61. PubMed ID: 23337016
[TBL] [Abstract][Full Text] [Related]
12. Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene.
Jacquinet A; Verloes A; Callewaert B; Coremans C; Coucke P; de Paepe A; Kornak U; Lebrun F; Lombet J; Piérard GE; Robinson PN; Symoens S; Van Maldergem L; Debray FG
Eur J Med Genet; 2014 Apr; 57(5):230-4. PubMed ID: 24613577
[TBL] [Abstract][Full Text] [Related]
13. A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL.
Beauregard-Lacroix E; Salian S; Kim H; Ehresmann S; DʹAmours G; Gauthier J; Saillour V; Bernard G; Mitchell GA; Soucy JF; Michaud JL; Campeau PM
Eur J Hum Genet; 2020 Apr; 28(4):461-468. PubMed ID: 31695177
[TBL] [Abstract][Full Text] [Related]
14. Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family.
Rahman OU; Khawar N; Khan MA; Ahmed J; Khattak K; Al-Aama JY; Naeem M; Jelani M
Diagn Pathol; 2013 May; 8():78. PubMed ID: 23659685
[TBL] [Abstract][Full Text] [Related]
15. 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
Mutat Res Rev Mutat Res; 2019; 781():30-52. PubMed ID: 31416577
[TBL] [Abstract][Full Text] [Related]
16. Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype.
Takenouchi T; Hida M; Sakamoto Y; Torii C; Kosaki R; Takahashi T; Kosaki K
Am J Med Genet A; 2013 Dec; 161A(12):3057-62. PubMed ID: 24039054
[TBL] [Abstract][Full Text] [Related]
17. Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel
Ceccarini G; Magno S; Pelosini C; Ferrari F; Sessa MR; Scabia G; Maffei M; Jéru I; Lascols O; Vigouroux C; Santini F
Front Endocrinol (Lausanne); 2020; 11():39. PubMed ID: 32117065
[TBL] [Abstract][Full Text] [Related]
18. Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects.
Fu M; Kazlauskaite R; Baracho Mde F; Santos MG; Brandão-Neto J; Villares S; Celi FS; Wajchenberg BL; Shuldiner AR
J Clin Endocrinol Metab; 2004 Jun; 89(6):2916-22. PubMed ID: 15181077
[TBL] [Abstract][Full Text] [Related]
19. A Patient with Berardinelli-Seip Syndrome, Novel
Oswiecimska J; Dawidziuk M; Gambin T; Ziora K; Marek M; Rzonca S; Guilbride DL; Jhangiani SN; Obuchowicz A; Sikora A; Lupski JR; Wiszniewski W; Gawlinski P
J Clin Res Pediatr Endocrinol; 2019 Sep; 11(3):319-326. PubMed ID: 30563316
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
