116 related articles for article (PubMed ID: 34504925)
1. Mandibuloacral dysplasia in a young Vietnamese girl caused by homozygous missense variant c.1579C>T in the LMNA gene with progeria and severe skin lesions.
Doanh LH; Phuong HT; Phuong NTT; Thu LTH; Thuong NV
JAAD Case Rep; 2021 Oct; 16():5-8. PubMed ID: 34504925
[No Abstract] [Full Text] [Related]
2. Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China.
Luo DQ; Wang XZ; Meng Y; He DY; Chen YM; Ke ZY; Yan M; Huang Y; Chen DF
BMC Pediatr; 2014 Oct; 14():256. PubMed ID: 25286833
[TBL] [Abstract][Full Text] [Related]
3. Case report: A novel splice-site mutation of
Fu X; Chen S; Huang X; Lu Q; Cui Y; Lin W; Yang Q
Front Endocrinol (Lausanne); 2024; 15():1345067. PubMed ID: 38544690
[TBL] [Abstract][Full Text] [Related]
4. A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report.
Carvalho AA; Machado RA; Maia CMF; Santos LAND; Martelli DRB; Coletta RD; Martelli Júnior H
Rev Paul Pediatr; 2024; 42():e2022189. PubMed ID: 38808865
[TBL] [Abstract][Full Text] [Related]
5. Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy.
Zirn B; Kress W; Grimm T; Berthold LD; Neubauer B; Kuchelmeister K; Müller U; Hahn A
Am J Med Genet A; 2008 Apr; 146A(8):1049-54. PubMed ID: 18348272
[TBL] [Abstract][Full Text] [Related]
6. Two Decades after Mandibuloacral Dysplasia Discovery: Additional Cases and Comprehensive View of Disease Characteristics.
Jéru I; Nabil A; El-Makkawy G; Lascols O; Vigouroux C; Abdalla E
Genes (Basel); 2021 Sep; 12(10):. PubMed ID: 34680903
[TBL] [Abstract][Full Text] [Related]
7. Mandibuloacral dysplasia and LMNA A529V mutation in Turkish patients with severe skeletal changes and absent breast development.
Ozer L; Unsal E; Aktuna S; Baltaci V; Celikkol P; Akyigit F; Sen A; Ayvaz O; Balci S
Clin Dysmorphol; 2016 Jul; 25(3):91-7. PubMed ID: 27100822
[TBL] [Abstract][Full Text] [Related]
8. Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines.
Hitzert MM; van der Crabben SN; Baldewsingh G; van Amstel HKP; van den Wijngaard A; van Ravenswaaij-Arts CMA; Zijlmans CWR
Orphanet J Rare Dis; 2019 Dec; 14(1):294. PubMed ID: 31856865
[TBL] [Abstract][Full Text] [Related]
9. Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy.
Bai S; Lozada A; Jones MC; Dietz HC; Dempsey M; Das S
Case Rep Genet; 2014; 2014():508231. PubMed ID: 24639906
[TBL] [Abstract][Full Text] [Related]
10. Osteoblasts from a mandibuloacral dysplasia patient induce human blood precursors to differentiate into active osteoclasts.
Avnet S; Pallotta R; Perut F; Baldini N; Pittis MG; Saponari A; Lucarelli E; Dozza B; Greggi T; Maraldi NM; Capanni C; Mattioli E; Columbaro M; Lattanzi G
Biochim Biophys Acta; 2011 Jul; 1812(7):711-8. PubMed ID: 21419220
[TBL] [Abstract][Full Text] [Related]
11. A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome.
Al-Haggar M; Madej-Pilarczyk A; Kozlowski L; Bujnicki JM; Yahia S; Abdel-Hadi D; Shams A; Ahmad N; Hamed S; Puzianowska-Kuznicka M
Eur J Hum Genet; 2012 Nov; 20(11):1134-40. PubMed ID: 22549407
[TBL] [Abstract][Full Text] [Related]
12. A novel homozygous LMNA mutation (p.Met540Ile) causes mandibuloacral dysplasia type A.
Yassaee VR; Khojaste A; Hashemi-Gorji F; Ravesh Z; Toosi P
Gene; 2016 Feb; 577(1):8-13. PubMed ID: 26602028
[TBL] [Abstract][Full Text] [Related]
13. A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia.
Garg A; Cogulu O; Ozkinay F; Onay H; Agarwal AK
J Clin Endocrinol Metab; 2005 Sep; 90(9):5259-64. PubMed ID: 15998779
[TBL] [Abstract][Full Text] [Related]
14. Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.
Novelli G; Muchir A; Sangiuolo F; Helbling-Leclerc A; D'Apice MR; Massart C; Capon F; Sbraccia P; Federici M; Lauro R; Tudisco C; Pallotta R; Scarano G; Dallapiccola B; Merlini L; Bonne G
Am J Hum Genet; 2002 Aug; 71(2):426-31. PubMed ID: 12075506
[TBL] [Abstract][Full Text] [Related]
15. Mandibuloacral dysplasia type A in five tunisian patients.
R S; H M; M T; A A; M G; I H; E K; K M; F M; R M
Eur J Med Genet; 2021 Feb; 64(2):104138. PubMed ID: 33422685
[TBL] [Abstract][Full Text] [Related]
16. Gene expression profiling of fibroblasts from a human progeroid disease (mandibuloacral dysplasia, MAD #248370) through cDNA microarrays.
Amati F; Biancolella M; D'Apice MR; Gambardella S; Mango R; Sbraccia P; D'Adamo M; Margiotti K; Nardone A; Lewis M; Novelli G
Gene Expr; 2004; 12(1):39-47. PubMed ID: 15473259
[TBL] [Abstract][Full Text] [Related]
17. Failure of ossification of the occipital bone in mandibuloacral dysplasia type B.
Haye D; Dridi H; Levy J; Lambert V; Lambert M; Agha M; Adjimi F; Kohlhase J; Lipsker D; Verloes A
Am J Med Genet A; 2016 Oct; 170(10):2750-5. PubMed ID: 27410998
[TBL] [Abstract][Full Text] [Related]
18. A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features.
Van Esch H; Agarwal AK; Debeer P; Fryns JP; Garg A
J Clin Endocrinol Metab; 2006 Feb; 91(2):517-21. PubMed ID: 16278265
[TBL] [Abstract][Full Text] [Related]
19. Mandibuloacral dysplasia: A premature ageing disease with aspects of physiological ageing.
Cenni V; D'Apice MR; Garagnani P; Columbaro M; Novelli G; Franceschi C; Lattanzi G
Ageing Res Rev; 2018 Mar; 42():1-13. PubMed ID: 29208544
[TBL] [Abstract][Full Text] [Related]
20. Mandibuloacral dysplasia type A in childhood.
Garavelli L; D'Apice MR; Rivieri F; Bertoli M; Wischmeijer A; Gelmini C; De Nigris V; Albertini E; Rosato S; Virdis R; Bacchini E; Dal Zotto R; Banchini G; Iughetti L; Bernasconi S; Superti-Furga A; Novelli G
Am J Med Genet A; 2009 Oct; 149A(10):2258-64. PubMed ID: 19764019
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
