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    Results: 20

    1.

    From tall to short: the role of TGFβ signaling in growth and its disorders.

    Le Goff C, Cormier-Daire V.

    Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):145-53. doi: 10.1002/ajmg.c.31337. Epub 2012 Jul 12. Review.

    PMID:
    22791552
    [PubMed - indexed for MEDLINE]
    2.

    First case of a Japanese girl with Myhre syndrome due to a heterozygous SMAD4 mutation.

    Asakura Y, Muroya K, Sato T, Kurosawa K, Nishimura G, Adachi M.

    Am J Med Genet A. 2012 Aug;158A(8):1982-6. doi: 10.1002/ajmg.a.35440. Epub 2012 Jun 18.

    PMID:
    22711472
    [PubMed - indexed for MEDLINE]
    3.

    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.

    Am J Hum Genet. 2012 Jan 13;90(1):161-9. doi: 10.1016/j.ajhg.2011.12.011.

    PMID:
    22243968
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    4.

    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. doi: 10.1038/ng.1016.

    PMID:
    22158539
    [PubMed - indexed for MEDLINE]
    5.

    Clinical features and respiratory complications in Myhre syndrome.

    McGowan R, Gulati R, McHenry P, Cooke A, Butler S, Keng WT, Murday V, Whiteford M, Dikkers FG, Sikkema-Raddatz B, van Essen T, Tolmie J.

    Eur J Med Genet. 2011 Nov-Dec;54(6):e553-9. doi: 10.1016/j.ejmg.2011.07.001. Epub 2011 Jul 21.

    PMID:
    21816239
    [PubMed - indexed for MEDLINE]
    6.

    Myhre syndrome with ataxia and cerebellar atrophy.

    Bachmann-Gagescu R, Hisama FM, Yuen AL.

    Clin Dysmorphol. 2011 Jul;20(3):156-9. doi: 10.1097/MCD.0b013e3283468043. No abstract available.

    PMID:
    21490502
    [PubMed - indexed for MEDLINE]
    7.

    LAPS syndrome and Myhre syndrome: two disorders or one?

    Lindor NM.

    Am J Med Genet A. 2009 Feb 15;149A(4):798-9. doi: 10.1002/ajmg.a.32719. No abstract available.

    PMID:
    19267408
    [PubMed - indexed for MEDLINE]
    8.

    The fifth female patient with Myhre syndrome: further delineation.

    Becerra-Solano LE, Díaz-Rodriguez M, Nastasi-Catanese JA, Toscano-Flores JJ, Bañuelos-Robles O, Figuera LE, Matute E, de Lourdes Ramírez-Dueñas M.

    Clin Dysmorphol. 2008 Apr;17(2):113-7. doi: 10.1097/MCD.0b013e3282f52828.

    PMID:
    18388781
    [PubMed - indexed for MEDLINE]
    9.

    Myhre syndrome in a female with previously undescribed symptoms: further delineation of the phenotype.

    van Steensel MA, Vreeburg M, Steijlen PM, de Die-Smulders C.

    Am J Med Genet A. 2005 Dec 1;139A(2):127-30.

    PMID:
    16278892
    [PubMed - indexed for MEDLINE]
    10.

    Second female case of Myhre syndrome.

    Lopez-Cardona MG, Garcia-Cruz D, Garcia-Ortiz JE, Davalos NO, Feria-Velasco A, Rodriguez-Rojas LX, Garcia-Cruz MO, Figuera-Villanueva LE, Stephens A, Larios-Arceo F, Sanchez-Corona J.

    Clin Dysmorphol. 2004 Apr;13(2):91-4.

    PMID:
    15057124
    [PubMed - indexed for MEDLINE]
    11.

    Myhre syndrome: first female case.

    Dávalos NO, García-Ortiz JE, García-Cruz D, Feria-Velasco A, Sánchez-Corona J.

    Clin Dysmorphol. 2003 Apr;12(2):119-21.

    PMID:
    12868475
    [PubMed - indexed for MEDLINE]
    12.

    Myhre syndrome: new reports, review, and differential diagnosis.

    Burglen L, Héron D, Moerman A, Dieux-Coeslier A, Bourguignon JP, Bachy A, Carel JC, Cormier-Daire V, Manouvrier S, Verloes A.

    J Med Genet. 2003 Jul;40(7):546-51. Review. No abstract available.

    PMID:
    12843331
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    13.

    Probable identity of Goltz syndrome and Van Allen-Myhre syndrome: evidence from phenotypic evolution.

    Hancock S, Pryde P, Fong C, Brazy JE, Stewart K, Favour A, Pauli RM.

    Am J Med Genet. 2002 Jul 15;110(4):370-9. Review.

    PMID:
    12116212
    [PubMed - indexed for MEDLINE]
    14.

    Confirmation of existence of a new syndrome: LAPS syndrome.

    Lindor NM, Kasperbauer JL, Hoffman AD, Parisi JE, Wang H, Warman M.

    Am J Med Genet. 2002 Apr 22;109(2):93-9. Review.

    PMID:
    11977156
    [PubMed - indexed for MEDLINE]
    15.

    Case of Myhre syndrome with autism and peculiar skin histological findings.

    Titomanlio L, Marzano MG, Rossi E, D'Armiento M, De Brasi D, Vega GR, Andreucci MV, Orsini AV, Santoro L, Sebastio G.

    Am J Med Genet. 2001 Oct 1;103(2):163-5.

    PMID:
    11568925
    [PubMed - indexed for MEDLINE]
    16.

    A new case of Myhre syndrome.

    Whiteford ML, Doig WB, Raine PA, Hollman AS, Tolmie JL.

    Clin Dysmorphol. 2001 Apr;10(2):135-40. Review.

    PMID:
    11310994
    [PubMed - indexed for MEDLINE]
    17.

    Geleophysic dysplasia vs. Myhre syndrome.

    Figuera LE.

    Am J Med Genet. 1996 Nov 11;65(4):361-2. No abstract available.

    PMID:
    8923952
    [PubMed - indexed for MEDLINE]
    18.

    The Myhre syndrome: report of two cases.

    García-Cruz D, Figuera LE, Feria-Velazco A, Sánchez-Corona J, García-Cruz MO, Ramírez-Duenãs RM, Hernandez-Córdova A, Ruiz MX, Bitar-Alatorre WE, Ramírez-Dueñas ML, et al.

    Clin Genet. 1993 Oct;44(4):203-7.

    PMID:
    8261650
    [PubMed - indexed for MEDLINE]
    19.

    Bannayan-Riley-Ruvalcaba syndrome.

    Gorlin RJ, Cohen MM Jr, Condon LM, Burke BA.

    Am J Med Genet. 1992 Oct 1;44(3):307-14.

    PMID:
    1336932
    [PubMed - indexed for MEDLINE]
    20.

    Understanding Proteus syndrome, unmasking the elephant man, and stemming elephant fever.

    Cohen MM Jr.

    Neurofibromatosis. 1988;1(5-6):260-80.

    PMID:
    3152479
    [PubMed - indexed for MEDLINE]

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