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Myhre Syndrome.
2017 Apr 13 [updated 2022 Nov 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
2017 Apr 13 [updated 2022 Nov 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID: 28406602
Free Books & Documents.
Review.
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.
Le Goff C, et al.
Nat Genet. 2011 Dec 11;44(1):85-8. doi: 10.1038/ng.1016.
Nat Genet. 2011.
PMID: 22158539
Item in Clipboard
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.
Caputo V, Cianetti L, Niceta M, Carta C, Ciolfi A, Bocchinfuso G, Carrani E, Dentici ML, Biamino E, Belligni E, Garavelli L, Boccone L, Melis D, Andria G, Gelb BD, Stella L, Silengo M, Dallapiccola B, Tartaglia M.
Caputo V, et al.
Am J Hum Genet. 2012 Jan 13;90(1):161-9. doi: 10.1016/j.ajhg.2011.12.011.
Am J Hum Genet. 2012.
PMID: 22243968
Free PMC article.
Item in Clipboard
Mutations of SMAD4 account for both LAPS and Myhre syndromes.
Lindor NM, Gunawardena SR, Thibodeau SN.
Lindor NM, et al.
Am J Med Genet A. 2012 Jun;158A(6):1520-1. doi: 10.1002/ajmg.a.35374. Epub 2012 May 14.
Am J Med Genet A. 2012.
PMID: 22585601
No abstract available.
Item in Clipboard
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.
Piccolo P, et al.
Eur J Hum Genet. 2014 Aug;22(8):988-94. doi: 10.1038/ejhg.2013.283. Epub 2014 Jan 8.
Eur J Hum Genet. 2014.
PMID: 24398790
Free PMC article.
Item in Clipboard
Severe constipation in a patient with Myhre syndrome: a case report.
Bassett JK, Douzgou S, Kerr B.
Bassett JK, et al.
Clin Dysmorphol. 2016 Apr;25(2):54-7. doi: 10.1097/MCD.0000000000000109.
Clin Dysmorphol. 2016.
PMID: 26636501
Item in Clipboard
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.
Lin AE, et al.
Am J Med Genet A. 2016 Oct;170(10):2617-31. doi: 10.1002/ajmg.a.37739. Epub 2016 Jun 14.
Am J Med Genet A. 2016.
PMID: 27302097
Review.
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