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Results: 1 to 20 of 101

Similar articles for PubMed (Select 19684605)

1.

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.

Cordeddu V, Di Schiavi E, Pennacchio LA, Ma'ayan A, Sarkozy A, Fodale V, Cecchetti S, Cardinale A, Martin J, Schackwitz W, Lipzen A, Zampino G, Mazzanti L, Digilio MC, Martinelli S, Flex E, Lepri F, Bartholdi D, Kutsche K, Ferrero GB, Anichini C, Selicorni A, Rossi C, Tenconi R, Zenker M, Merlo D, Dallapiccola B, Iyengar R, Bazzicalupo P, Gelb BD, Tartaglia M.

Nat Genet. 2009 Sep;41(9):1022-6. doi: 10.1038/ng.425. Epub 2009 Aug 16.

2.

Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies.

Komatsuzaki S, Aoki Y, Niihori T, Okamoto N, Hennekam RC, Hopman S, Ohashi H, Mizuno S, Watanabe Y, Kamasaki H, Kondo I, Moriyama N, Kurosawa K, Kawame H, Okuyama R, Imaizumi M, Rikiishi T, Tsuchiya S, Kure S, Matsubara Y.

J Hum Genet. 2010 Dec;55(12):801-9. doi: 10.1038/jhg.2010.116. Epub 2010 Sep 30.

PMID:
20882035
3.

Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis.

Gripp KW, Zand DJ, Demmer L, Anderson CE, Dobyns WB, Zackai EH, Denenberg E, Jenny K, Stabley DL, Sol-Church K.

Am J Med Genet A. 2013 Oct;161A(10):2420-30. doi: 10.1002/ajmg.a.36098. Epub 2013 Aug 5.

4.

Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutation.

Gargano G, Guidotti I, Balestri E, Vagnarelli F, Rosato S, Comitini G, Wischmeijer A, La Sala GB, Iughetti L, Cordeddu V, Rossi C, Tartaglia M, Garavelli L.

Am J Med Genet A. 2014 Apr;164A(4):1015-20. doi: 10.1002/ajmg.a.36376. Epub 2014 Jan 23.

PMID:
24458587
5.

GH Therapy and first final height data in Noonan-like syndrome with loose anagen hair (Mazzanti syndrome).

Mazzanti L, Tamburrino F, Scarano E, Perri A, Vestrucci B, Guidetti M, Rossi C, Tartaglia M.

Am J Med Genet A. 2013 Nov;161A(11):2756-61. doi: 10.1002/ajmg.a.36255. Epub 2013 Oct 3.

PMID:
24124081
6.

Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype.

Ekvall S, Hagenäs L, Allanson J, Annerén G, Bondeson ML.

Am J Med Genet A. 2011 Jun;155A(6):1217-24. doi: 10.1002/ajmg.a.33987. Epub 2011 May 5.

PMID:
21548061
7.

Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair.

Ferrero GB, Picco G, Baldassarre G, Flex E, Isella C, Cantarella D, Corà D, Chiesa N, Crescenzio N, Timeus F, Merla G, Mazzanti L, Zampino G, Rossi C, Silengo M, Tartaglia M, Medico E.

Hum Mutat. 2012 Apr;33(4):703-9. doi: 10.1002/humu.22026. Epub 2012 Feb 14.

8.

Moyamoya syndrome in a patient with Noonan-like syndrome with loose anagen hair.

Choi JH, Oh MY, Yum MS, Lee BH, Kim GH, Yoo HW.

Pediatr Neurol. 2015 Mar;52(3):352-5. doi: 10.1016/j.pediatrneurol.2014.11.017. Epub 2014 Dec 3.

PMID:
25563136
9.

Noonan syndrome: clinical aspects and molecular pathogenesis.

Tartaglia M, Zampino G, Gelb BD.

Mol Syndromol. 2010 Feb;1(1):2-26. doi: 10.1159/000276766. Epub 2010 Jan 15.

10.

Phenotypic variability associated with the invariant SHOC2 c.4A>G (p.Ser2Gly) missense mutation.

Baldassarre G, Mussa A, Banaudi E, Rossi C, Tartaglia M, Silengo M, Ferrero GB.

Am J Med Genet A. 2014 Dec;164A(12):3120-5. doi: 10.1002/ajmg.a.36697. Epub 2014 Oct 20.

PMID:
25331583
11.

Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations.

Capalbo D, Melis D, De Martino L, Palamaro L, Riccomagno S, Bona G, Cordeddu V, Pignata C, Salerno M.

Am J Med Genet A. 2012 Apr;158A(4):856-60. doi: 10.1002/ajmg.a.35234. Epub 2012 Mar 14.

PMID:
22419608
12.

Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction.

Gelb BD, Tartaglia M.

Hum Mol Genet. 2006 Oct 15;15 Spec No 2:R220-6. Review.

13.

Shoc2 is targeted to late endosomes and required for Erk1/2 activation in EGF-stimulated cells.

Galperin E, Abdelmoti L, Sorkin A.

PLoS One. 2012;7(5):e36469. doi: 10.1371/journal.pone.0036469. Epub 2012 May 14.

14.

Noonan syndrome-like disorder with loose anagen hair: A second case with neuroblastoma.

Garavelli L, Cordeddu V, Errico S, Bertolini P, Street ME, Rosato S, Pollazzon M, Wischmeijer A, Ivanovski I, Daniele P, Bacchini E, Lombardi AA, Izzi G, Biasucci G, Del Rossi C, Corradi D, Cazzaniga G, Dominici C, Rossi C, De Luca A, Bernasconi S, Riccardi R, Legius E, Tartaglia M.

Am J Med Genet A. 2015 Apr 5. doi: 10.1002/ajmg.a.37082. [Epub ahead of print]

PMID:
25846317
15.

Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant.

Hoban R, Roberts AE, Demmer L, Jethva R, Shephard B.

Am J Med Genet A. 2012 Jun;158A(6):1411-3. doi: 10.1002/ajmg.a.35318. Epub 2012 Apr 23.

PMID:
22528146
16.

Moyamoya disease in two patients with Noonan-like syndrome with loose anagen hair.

Lo FS, Wang CJ, Wong MC, Lee NC.

Am J Med Genet A. 2015 Apr 9. doi: 10.1002/ajmg.a.37053. [Epub ahead of print]

PMID:
25858597
17.

Noonan syndrome and clinically related disorders.

Tartaglia M, Gelb BD, Zenker M.

Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):161-79. doi: 10.1016/j.beem.2010.09.002. Review.

18.

A Novel SHOC2 Variant in Rasopathy.

Hannig V, Jeoung M, Jang ER, Phillips JA 3rd, Galperin E.

Hum Mutat. 2014 Nov;35(11):1290-4. doi: 10.1002/humu.22634. Epub 2014 Sep 11.

PMID:
25137548
19.

Coarctation of the aorta in Noonan-like syndrome with loose anagen hair.

Zmolikova M, Puchmajerova A, Hecht P, Lebl J, Trkova M, Krepelova A.

Am J Med Genet A. 2014 May;164A(5):1218-21. doi: 10.1002/ajmg.a.36404. Epub 2014 Jan 23.

PMID:
24458596
20.

Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.

Aoki Y, Niihori T, Banjo T, Okamoto N, Mizuno S, Kurosawa K, Ogata T, Takada F, Yano M, Ando T, Hoshika T, Barnett C, Ohashi H, Kawame H, Hasegawa T, Okutani T, Nagashima T, Hasegawa S, Funayama R, Nagashima T, Nakayama K, Inoue S, Watanabe Y, Ogura T, Matsubara Y.

Am J Hum Genet. 2013 Jul 11;93(1):173-80. doi: 10.1016/j.ajhg.2013.05.021. Epub 2013 Jun 20.

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