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Items: 1 to 20 of 218

1.

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.

2.

A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.

Gripp KW, Aldinger KA, Bennett JT, Baker L, Tusi J, Powell-Hamilton N, Stabley D, Sol-Church K, Timms AE, Dobyns WB.

Am J Med Genet A. 2016 Sep;170(9):2237-47. doi: 10.1002/ajmg.a.37781. Epub 2016 Jun 5.

3.

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
4.

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
5.

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
6.

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 Jun;167(6):1285-8. doi: 10.1002/ajmg.a.37053. Epub 2015 Apr 9.

PMID:
25858597
7.

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
8.

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
9.

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
10.

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
11.

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 Aug;167A(8):1902-7. doi: 10.1002/ajmg.a.37082. Epub 2015 Apr 5.

PMID:
25846317
12.

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.

13.

Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation.

Capalbo D, Scala MG, Melis D, Minopoli G, Improda N, Palamaro L, Pignata C, Salerno M.

Ital J Pediatr. 2012 Sep 20;38:48. doi: 10.1186/1824-7288-38-48.

14.

Noonan-like syndrome with loose anagen hair: a new syndrome?

Mazzanti L, Cacciari E, Cicognani A, Bergamaschi R, Scarano E, Forabosco A.

Am J Med Genet A. 2003 Apr 30;118A(3):279-86.

PMID:
12673660
15.

Clinical and molecular analysis of RASopathies in a group of Turkish patients.

Şimşek-Kiper PÖ, Alanay Y, Gülhan B, Lissewski C, Türkyilmaz D, Alehan D, Cetin M, Utine GE, Zenker M, Boduroğlu K.

Clin Genet. 2013 Feb;83(2):181-6. doi: 10.1111/j.1399-0004.2012.01875.x. Epub 2012 Apr 9.

PMID:
22420426
16.

Severe craniosynostosis with Noonan syndrome phenotype associated with SHOC2 mutation: clinical evidence of crosslink between FGFR and RAS signaling pathways.

Takenouchi T, Sakamoto Y, Miwa T, Torii C, Kosaki R, Kishi K, Takahashi T, Kosaki K.

Am J Med Genet A. 2014 Nov;164A(11):2869-72. doi: 10.1002/ajmg.a.36705. Epub 2014 Aug 13.

PMID:
25123707
17.

Co-occurrence of hypertrophic cardiomyopathy and myeloproliferative disorder in a neonate with Noonan syndrome carrying Thr73Ile mutation in PTPN11.

Yagasaki H, Nakane T, Hasebe Y, Watanabe A, Kise H, Toda T, Koizumi K, Hoshiai M, Sugita K.

Am J Med Genet A. 2015 Dec;167A(12):3144-7. doi: 10.1002/ajmg.a.37295. Epub 2015 Aug 19.

PMID:
26286251
18.

The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.

Bertola D, Yamamoto G, Buscarilli M, Jorge A, Passos-Bueno MR, Kim C.

Am J Med Genet A. 2017 Mar;173(3):824-828. doi: 10.1002/ajmg.a.38070. Review.

PMID:
28211982
19.

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.

20.

New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations.

Čizmárová M, Hlinková K, Bertok S, Kotnik P, Duba HC, Bertalan R, Poločková K, Košťálová Ľ, Pribilincová Z, Hlavatá A, Kovács L, Ilenčíková D.

Ann Hum Genet. 2016 Jan;80(1):50-62. doi: 10.1111/ahg.12140. Epub 2015 Nov 26.

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