These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

211 related articles for article (PubMed ID: 31856865)

  • 21. 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]  

  • 22. Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype.
    Lombardi F; Gullotta F; Columbaro M; Filareto A; D'Adamo M; Vielle A; Guglielmi V; Nardone AM; Azzolini V; Grosso E; Lattanzi G; D'Apice MR; Masala S; Maraldi NM; Sbraccia P; Novelli G
    J Clin Endocrinol Metab; 2007 Nov; 92(11):4467-71. PubMed ID: 17848409
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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]  

  • 24. 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]  

  • 25. New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.
    Navarro CL; Esteves-Vieira V; Courrier S; Boyer A; Duong Nguyen T; Huong le TT; Meinke P; Schröder W; Cormier-Daire V; Sznajer Y; Amor DJ; Lagerstedt K; Biervliet M; van den Akker PC; Cau P; Roll P; Lévy N; Badens C; Wehnert M; De Sandre-Giovannoli A
    Eur J Hum Genet; 2014 Aug; 22(8):1002-11. PubMed ID: 24169522
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia.
    Simha V; Garg A
    J Clin Endocrinol Metab; 2002 Feb; 87(2):776-85. PubMed ID: 11836320
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology.
    Elouej S; Harhouri K; Le Mao M; Baujat G; Nampoothiri S; Kayserili H; Menabawy NA; Selim L; Paneque AL; Kubisch C; Lessel D; Rubinsztajn R; Charar C; Bartoli C; Airault C; Deleuze JF; Rötig A; Bauer P; Pereira C; Loh A; Escande-Beillard N; Muchir A; Martino L; Gruenbaum Y; Lee SH; Manivet P; Lenaers G; Reversade B; Lévy N; De Sandre-Giovannoli A
    Nat Commun; 2020 Sep; 11(1):4589. PubMed ID: 32917887
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Analysis of a non-lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons.
    Kaufmann L; Pilic J; Auinger L; Mayer AL; Blatterer J; Semmler-Bruckner J; Abbas S; Rehman K; Ayaz M; Graier WF; Malli R; Petek E; Wagner K; Al Kaissi A; Khan MA; Windpassinger C
    Clin Genet; 2023 Oct; 104(4):491-496. PubMed ID: 37270786
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. A novel MTX2 gene splice site variant resulting in exon skipping, causing the recently described mandibuloacral dysplasia progeroid syndrome.
    Yeter Doğan B; Günay N; Ada Y; Doğan ME
    Am J Med Genet A; 2023 Jan; 191(1):173-182. PubMed ID: 36269149
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity.
    Ahmad Z; Phadke SR; Arch E; Glass J; Agarwal AK; Garg A
    Clin Genet; 2012 Feb; 81(2):158-64. PubMed ID: 21108632
    [TBL] [Abstract][Full Text] [Related]  

  • 32. A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism.
    Shastry S; Simha V; Godbole K; Sbraccia P; Melancon S; Yajnik CS; Novelli G; Kroiss M; Garg A
    J Clin Endocrinol Metab; 2010 Oct; 95(10):E192-7. PubMed ID: 20631028
    [TBL] [Abstract][Full Text] [Related]  

  • 33. A novel autosomal recessive lipodystrophy syndrome due to homozygous
    Patni N; Hatab S; Xing C; Zhou Z; Quittner C; Garg A
    J Med Genet; 2020 Jun; 57(6):422-426. PubMed ID: 31857427
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Mandibuloacral dysplasia type B in an infant: a rare progeroid genodermatosis.
    Kwan JM
    JAMA Dermatol; 2015 May; 151(5):561-2. PubMed ID: 25629449
    [No Abstract]   [Full Text] [Related]  

  • 35. LMNA mutations resulting in lipodystrophy and HIV protease inhibitors trigger vascular smooth muscle cell senescence and calcification: Role of ZMPSTE24 downregulation.
    Afonso P; Auclair M; Boccara F; Vantyghem MC; Katlama C; Capeau J; Vigouroux C; Caron-Debarle M
    Atherosclerosis; 2016 Feb; 245():200-11. PubMed ID: 26724531
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. Proteomic profiling of adipose tissue from Zmpste24-/- mice, a model of lipodystrophy and premature aging, reveals major changes in mitochondrial function and vimentin processing.
    Peinado JR; Quirós PM; Pulido MR; Mariño G; Martínez-Chantar ML; Vázquez-Martínez R; Freije JM; López-Otín C; Malagón MM
    Mol Cell Proteomics; 2011 Nov; 10(11):M111.008094. PubMed ID: 21828285
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A newly identified splice site mutation in ZMPSTE24 causes restrictive dermopathy in the Middle East.
    Sander CS; Salman N; van Geel M; Broers JL; Al-Rahmani A; Chedid F; Hausser I; Oji V; Al Nuaimi K; Berger TG; Verstraeten VL
    Br J Dermatol; 2008 Sep; 159(4):961-7. PubMed ID: 18671782
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy.
    Moulson CL; Go G; Gardner JM; van der Wal AC; Smitt JH; van Hagen JM; Miner JH
    J Invest Dermatol; 2005 Nov; 125(5):913-9. PubMed ID: 16297189
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Microcephalia with mandibular and dental dysplasia in adult Zmpste24-deficient mice.
    de Carlos F; Varela I; Germanà A; Montalbano G; Freije JM; Vega JA; López-Otin C; Cobo JM
    J Anat; 2008 Nov; 213(5):509-19. PubMed ID: 19014358
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.