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    Results: 1 to 20 of 55

    1.

    Noonan syndrome.

    Roberts AE, Allanson JE, Tartaglia M, Gelb BD.

    Lancet. 2013 Jan 26;381(9863):333-42. doi: 10.1016/S0140-6736(12)61023-X. Epub 2013 Jan 10. Review.

    PMID:
    23312968
    [PubMed - indexed for MEDLINE]

    Related citations

    2.

    Outcomes in children with Noonan syndrome and hypertrophic cardiomyopathy: a study from the Pediatric Cardiomyopathy Registry.

    Wilkinson JD, Lowe AM, Salbert BA, Sleeper LA, Colan SD, Cox GF, Towbin JA, Connuck DM, Messere JE, Lipshultz SE.

    Am Heart J. 2012 Sep;164(3):442-8. doi: 10.1016/j.ahj.2012.04.018. Epub 2012 Aug 9.

    PMID:
    22980313
    [PubMed - indexed for MEDLINE]

    Related citations

    3.

    A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotype.

    Yimenicioğlu S, Yakut A, Karaer K, Zenker M, Ekici A, Carman KB.

    Childs Nerv Syst. 2012 Dec;28(12):2181-3. doi: 10.1007/s00381-012-1905-7. Epub 2012 Sep 11.

    PMID:
    22965773
    [PubMed - indexed for MEDLINE]

    Related citations

    4.

    Omphalocele in a patient with Noonan syndrome.

    Longoni L, D'Apolito V, Cianci P, Selicorni A.

    Clin Dysmorphol. 2012 Oct;21(4):215-7. doi: 10.1097/MCD.0b013e3283590a5a. No abstract available.

    PMID:
    22932443
    [PubMed - indexed for MEDLINE]

    Related citations

    5.

    Peripheral muscle weakness in RASopathies.

    Stevenson DA, Allen S, Tidyman WE, Carey JC, Viskochil DH, Stevens A, Hanson H, Sheng X, Thompson BA, Okumura MJ, Reinker K, Johnson B, Rauen KA.

    Muscle Nerve. 2012 Sep;46(3):394-9. doi: 10.1002/mus.23324.

    PMID:
    22907230
    [PubMed - indexed for MEDLINE]

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    6.

    Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia.

    Kraoua L, Journel H, Bonnet P, Amiel J, Pouvreau N, Baumann C, Verloes A, Cavé H.

    Am J Med Genet A. 2012 Oct;158A(10):2407-11. doi: 10.1002/ajmg.a.35513. Epub 2012 Aug 7.

    PMID:
    22887781
    [PubMed - indexed for MEDLINE]

    Related citations

    7.

    Case report: Noonan syndrome with multiple giant cell lesions and review of the literature.

    Karbach J, Coerdt W, Wagner W, Bartsch O.

    Am J Med Genet A. 2012 Sep;158A(9):2283-9. doi: 10.1002/ajmg.a.35493. Epub 2012 Jul 27. Review.

    PMID:
    22848035
    [PubMed - indexed for MEDLINE]

    Related citations

    8.

    Two independent de novo mutations as a cause for neurofibromatosis type 1 and Noonan syndrome in a single family.

    Pasmant E, Amiel J, Rodriguez D, Vidaud M, Vidaud D, Parfait B.

    Am J Med Genet A. 2012 Sep;158A(9):2290-1. doi: 10.1002/ajmg.a.35496. Epub 2012 Jul 27.

    PMID:
    22847776
    [PubMed - indexed for MEDLINE]

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    9.

    Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants.

    Wu X, Yin J, Simpson J, Kim KH, Gu S, Hong JH, Bayliss P, Backx PH, Neel BG, Araki T.

    Mol Cell Biol. 2012 Oct;32(19):3872-90. doi: 10.1128/MCB.00751-12. Epub 2012 Jul 23.

    PMID:
    22826437
    [PubMed - indexed for MEDLINE]
    Free PMC Article

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    10.

    Prenatal diagnosis of hypoplastic left heart syndrome associated with Noonan Syndrome and de novo RAF1 mutation.

    Schulz S, Fröber R, Kraus C, Schneider U.

    Prenat Diagn. 2012 Oct;32(10):1016-8. doi: 10.1002/pd.3938. Epub 2012 Jul 23. No abstract available.

    PMID:
    22821648
    [PubMed - indexed for MEDLINE]

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    11.

    Propionic acidemia in a male newborn with Noonan syndrome: a case report.

    Bouet K, Matías I, García I, García L, González MC, Valcárcel M.

    Bol Asoc Med P R. 2012 Jan-Mar;104(1):37-9.

    PMID:
    22788076
    [PubMed - indexed for MEDLINE]

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    12.

    Microduplication of 3p25.2 encompassing RAF1 associated with congenital heart disease suggestive of Noonan syndrome.

    Luo C, Yang YF, Yin BL, Chen JL, Huang C, Zhang WZ, Wang J, Zhang H, Yang JF, Tan ZP.

    Am J Med Genet A. 2012 Aug;158A(8):1918-23. doi: 10.1002/ajmg.a.35471. Epub 2012 Jul 11.

    PMID:
    22786616
    [PubMed - indexed for MEDLINE]

    Related citations

    13.

    Cognitive functioning of adults with Noonan syndrome: a case-control study.

    Wingbermühle E, Roelofs RL, van der Burgt I, Souren PM, Verhoeven WM, Kessels RP, Egger JI.

    Genes Brain Behav. 2012 Oct;11(7):785-93. doi: 10.1111/j.1601-183X.2012.00821.x. Epub 2012 Aug 10.

    PMID:
    22783933
    [PubMed - indexed for MEDLINE]

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    14.

    Response to growth hormone therapy in children with Noonan syndrome: correlation with or without PTPN11 gene mutation.

    Choi JH, Lee BH, Jung CW, Kim YM, Jin HY, Kim JM, Kim GH, Hwang JS, Yang SW, Lee J, Yoo HW.

    Horm Res Paediatr. 2012;77(6):388-93.

    PMID:
    22777296
    [PubMed - indexed for MEDLINE]

    Related citations

    15.

    Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome.

    Martinelli S, Nardozza AP, Delle Vigne S, Sabetta G, Torreri P, Bocchinfuso G, Flex E, Venanzi S, Palleschi A, Gelb BD, Cesareni G, Stella L, Castagnoli L, Tartaglia M.

    J Biol Chem. 2012 Aug 3;287(32):27066-77. doi: 10.1074/jbc.M112.350231. Epub 2012 Jun 18.

    PMID:
    22711529
    [PubMed - indexed for MEDLINE]
    Free PMC Article

    Related citations

    16.

    Patient with a neurofibromatosis type 1 mutation but a clinical diagnosis of Noonan syndrome.

    Croonen EA, Yntema HG, van Minkelen R, van den Ouweland AM, van der Burgt I.

    Clin Dysmorphol. 2012 Oct;21(4):212-4. doi: 10.1097/MCD.0b013e3283557231. No abstract available.

    PMID:
    22664660
    [PubMed - indexed for MEDLINE]

    Related citations

    17.

    Severe congenital thrombocytopaenia--first clinical manifestation of Noonan syndrome.

    Nunes P, Aguilar S, Prado SN, Palaré MJ, Ferrão A, Morais A.

    BMJ Case Rep. 2012 Mar 20;2012. doi:pii: bcr1020114940. 10.1136/bcr.10.2011.4940.

    PMID:
    22605701
    [PubMed - indexed for MEDLINE]

    Related citations

    18.

    Bleeding disorders and Noonan syndrome.

    Sharathkumar AA.

    Pediatr Blood Cancer. 2012 Sep;59(3):592; author reply 593. doi: 10.1002/pbc.24151. Epub 2012 May 7. No abstract available.

    PMID:
    22566384
    [PubMed - indexed for MEDLINE]

    Related citations

    19.

    Decreased bone mineralization in children with Noonan syndrome: another consequence of dysregulated RAS MAPKinase pathway?

    Choudhry KS, Grover M, Tran AA, O'Brian Smith E, Ellis KJ, Lee BH.

    Mol Genet Metab. 2012 Jun;106(2):237-40. doi: 10.1016/j.ymgme.2012.04.003. Epub 2012 Apr 11.

    PMID:
    22551697
    [PubMed - indexed for MEDLINE]

    Related citations

    20.

    Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines).

    Piard J, Verloes A, Cavé H, Peuchmaur M, Bennaceur S, Leheup B.

    Am J Med Genet A. 2012 Jun;158A(6):1406-10. doi: 10.1002/ajmg.a.35329. Epub 2012 Apr 23.

    PMID:
    22528600
    [PubMed - indexed for MEDLINE]

    Related citations

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