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 *

139 related articles for article (PubMed ID: 33630210)

  • 1. Lack of resemblance between Myhre syndrome and other "segmental progeroid" syndromes warrants restraint in applying this classification.
    Lin AE; Brunetti-Pierri N; Callewaert B; Cormier-Daire V; Douzgou S; Kinane TB; Lindsay ME; Starr LJ;
    Geroscience; 2021 Apr; 43(2):459-461. PubMed ID: 33630210
    [No Abstract]   [Full Text] [Related]  

  • 2. SMAD4 mutations and cross-talk between TGF-β/IFNγ signaling accelerate rates of DNA damage and cellular senescence, resulting in a segmental progeroid syndrome-the Myhre syndrome.
    Kandhaya-Pillai R; Hou D; Zhang J; Yang X; Compoginis G; Mori T; Tchkonia T; Martin GM; Hisama FM; Kirkland JL; Oshima J
    Geroscience; 2021 Jun; 43(3):1481-1496. PubMed ID: 33428109
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutations of SMAD4 account for both LAPS and Myhre syndromes.
    Lindor NM; Gunawardena SR; Thibodeau SN
    Am J Med Genet A; 2012 Jun; 158A(6):1520-1. PubMed ID: 22585601
    [No Abstract]   [Full Text] [Related]  

  • 4. Myhre and LAPS syndromes: clinical and molecular review of 32 patients.
    Michot C; Le Goff C; Mahaut C; Afenjar A; Brooks AS; Campeau PM; Destree A; Di Rocco M; Donnai D; Hennekam R; Heron D; Jacquemont S; Kannu P; Lin AE; Manouvrier-Hanu S; Mansour S; Marlin S; McGowan R; Murphy H; Raas-Rothschild A; Rio M; Simon M; Stolte-Dijkstra I; Stone JR; Sznajer Y; Tolmie J; Touraine R; van den Ende J; Van der Aa N; van Essen T; Verloes A; Munnich A; Cormier-Daire V
    Eur J Hum Genet; 2014 Nov; 22(11):1272-7. PubMed ID: 24424121
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome.
    Lin AE; Alali A; Starr LJ; Shah N; Beavis A; Pereira EM; Lindsay ME; Klugman S
    Am J Med Genet A; 2020 Feb; 182(2):328-337. PubMed ID: 31837202
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.
    Lin AE; Michot C; Cormier-Daire V; L'Ecuyer TJ; Matherne GP; Barnes BH; Humberson JB; Edmondson AC; Zackai E; O'Connor MJ; Kaplan JD; Ebeid MR; Krier J; Krieg E; Ghoshhajra B; Lindsay ME
    Am J Med Genet A; 2016 Oct; 170(10):2617-31. PubMed ID: 27302097
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
    Le Goff C; Mahaut C; Abhyankar A; Le Goff W; Serre V; Afenjar A; Destrée A; di Rocco M; Héron D; Jacquemont S; Marlin S; Simon M; Tolmie J; Verloes A; Casanova JL; Munnich A; Cormier-Daire V
    Nat Genet; 2011 Dec; 44(1):85-8. PubMed ID: 22158539
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Myhre syndrome: a report of six Chinese patients and literature review.
    Yu KP; Luk HM; Chung BH; Lo IF
    Clin Dysmorphol; 2019 Jul; 28(3):145-150. PubMed ID: 30921096
    [No Abstract]   [Full Text] [Related]  

  • 9. Severe constipation in a patient with Myhre syndrome: a case report.
    Bassett JK; Douzgou S; Kerr B
    Clin Dysmorphol; 2016 Apr; 25(2):54-7. PubMed ID: 26636501
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The first two Chinese Myhre syndrome patients with the recurrent SMAD4 pathogenic variants: Functional consequences and clinical diversity.
    Li H; Cheng B; Hu X; Li C; Su J; Zhang S; Li L; Li M; Yang K; He S; Chen S; Wang H; Liu G; Shen Y
    Clin Chim Acta; 2020 Jan; 500():128-134. PubMed ID: 31654632
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Autism Spectrum Disorder and Psychiatric Comorbidity in a Patient with Myhre Syndrome.
    Artemios P; Areti S; Katerina P; Helen F; Eirini T; Charalambos P
    J Autism Dev Disord; 2019 Jul; 49(7):3031-3035. PubMed ID: 30968316
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Myhre syndrome with novel findings: bilateral congenital cortical cataract, bilateral papilledema, accessory nipple, and adenoid hypertrophy.
    Erdem HB; Sahin I; Tatar A
    Clin Dysmorphol; 2018 Jan; 27(1):12-14. PubMed ID: 28562390
    [No Abstract]   [Full Text] [Related]  

  • 13. Myhre syndrome.
    Le Goff C; Michot C; Cormier-Daire V
    Clin Genet; 2014 Jun; 85(6):503-13. PubMed ID: 24580733
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Novel SMAD4 mutation causing Myhre syndrome.
    Caputo V; Bocchinfuso G; Castori M; Traversa A; Pizzuti A; Stella L; Grammatico P; Tartaglia M
    Am J Med Genet A; 2014 Jul; 164A(7):1835-40. PubMed ID: 24715504
    [TBL] [Abstract][Full Text] [Related]  

  • 15. SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan.
    Piccolo P; Mithbaokar P; Sabatino V; Tolmie J; Melis D; Schiaffino MC; Filocamo M; Andria G; Brunetti-Pierri N
    Eur J Hum Genet; 2014 Aug; 22(8):988-94. PubMed ID: 24398790
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Myhre Syndrome Misdiagnosed as Marfan Syndrome: an Educational Presentation.
    Li J; Zhu T; Yang S; Yang F; Wu J; Xiong F
    Braz J Cardiovasc Surg; 2021 Oct; 36(5):700-702. PubMed ID: 34236823
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Myhre syndrome with facial paralysis and branch pulmonary stenosis.
    Hawkes L; Kini U
    Clin Dysmorphol; 2015 Apr; 24(2):84-5. PubMed ID: 25486016
    [No Abstract]   [Full Text] [Related]  

  • 18. A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot.
    Alagia M; Cappuccio G; Pinelli M; Torella A; Brunetti-Pierri R; Simonelli F; Limongelli G; Oppido G; Nigro V; Brunetti-Pierri N;
    Am J Med Genet A; 2018 Feb; 176(2):426-430. PubMed ID: 29230941
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Natural history and life-threatening complications in Myhre syndrome and review of the literature.
    Garavelli L; Maini I; Baccilieri F; Ivanovski I; Pollazzon M; Rosato S; Iughetti L; Unger S; Superti-Furga A; Tartaglia M
    Eur J Pediatr; 2016 Oct; 175(10):1307-15. PubMed ID: 27562837
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Retinal involvement in two unrelated patients with Myhre syndrome.
    Al Ageeli E; Mignot C; Afenjar A; Whalen S; Dorison N; Mayer M; Esteva B; Dubern B; Momtchilova M; Le Gargasson JF; Bursztyn J; Héron D
    Eur J Med Genet; 2012 Oct; 55(10):541-7. PubMed ID: 22683461
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.