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Journal Abstract Search

298 related items for PubMed ID: 27562837

  • 1. 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
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  • 2. 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
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  • 4. Recurrent pericarditis in Myhre syndrome.
    Picco P, Naselli A, Pala G, Marsciani A, Buoncompagni A, Martini A.
    Am J Med Genet A; 2013 May; 161A(5):1164-6. PubMed ID: 23610053
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  • 5. 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
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  • 7. 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
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  • 8. Myhre-LAPs syndrome and intubation related airway stenosis: keys to diagnosis and critical therapeutic interventions.
    Oldenburg MS, Frisch CD, Lindor NM, Edell ES, Kasperbauer JL, O'Brien EK.
    Am J Otolaryngol; 2015 Oct; 36(5):636-41. PubMed ID: 25940662
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  • 9. 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, TUDP.
    Am J Med Genet A; 2018 Feb; 176(2):426-430. PubMed ID: 29230941
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  • 11. 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
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  • 17. A case of Myhre syndrome mimicking juvenile scleroderma.
    Jensen B, James R, Hong Y, Omoyinmi E, Pilkington C, Sebire NJ, Howell KJ, Brogan PA, Eleftheriou D.
    Pediatr Rheumatol Online J; 2020 Sep 11; 18(1):72. PubMed ID: 32917212
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  • 18. Myhre syndrome: Clinical features and restrictive cardiopulmonary complications.
    Starr LJ, Grange DK, Delaney JW, Yetman AT, Hammel JM, Sanmann JN, Perry DA, Schaefer GB, Olney AH.
    Am J Med Genet A; 2015 Dec 11; 167A(12):2893-901. PubMed ID: 26420300
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  • 19. 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 11; 44(1):85-8. PubMed ID: 22158539
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  • 20. Myhre syndrome with ataxia and cerebellar atrophy.
    Bachmann-Gagescu R, Hisama FM, Yuen AL.
    Clin Dysmorphol; 2011 Jul 11; 20(3):156-159. PubMed ID: 21490502
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