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Results: 9

1.

Molecular characterization of a balanced rearrangement of chromosome 12 in two siblings with Noonan syndrome.

Yatsenko SA, del Valle Torrado M, Fernandes PH, Wiszniewska J, Gallego M, Herrera J, Bacino CA.

Am J Med Genet A. 2009 Dec;149A(12):2723-30. doi: 10.1002/ajmg.a.33112.

PMID:
19938085
[PubMed - indexed for MEDLINE]
2.

Chromosome rearrangements in cornelia de Lange syndrome (CdLS): report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements.

DeScipio C, Kaur M, Yaeger D, Innis JW, Spinner NB, Jackson LG, Krantz ID.

Am J Med Genet A. 2005 Sep 1;137A(3):276-82. Review.

PMID:
16075459
[PubMed - indexed for MEDLINE]
3.

[RAS/MAPK signal transduction pathway and its role in the pathogenesis of Noonan syndrome].

Gos M, Leszkiewicz M, Abramowicz A.

Postepy Biochem. 2012;58(3):255-64. Review. Polish.

PMID:
23373411
[PubMed - indexed for MEDLINE]
4.

Noonan syndrome caused by germline KRAS mutation in Taiwan: report of two patients and a review of the literature.

Lo FS, Lin JL, Kuo MT, Chiu PC, Shu SG, Chao MC, Lee YJ, Lin SP.

Eur J Pediatr. 2009 Aug;168(8):919-23. doi: 10.1007/s00431-008-0858-z. Epub 2008 Oct 29. Review.

PMID:
18958496
[PubMed - indexed for MEDLINE]
5.

Abnormal growth in noonan syndrome: genetic and endocrine features and optimal treatment.

Padidela R, Camacho-Hübner C, Attie KM, Savage MO.

Horm Res. 2008;70(3):129-36. doi: 10.1159/000145016. Epub 2008 Jul 29. Review.

PMID:
18663312
[PubMed - indexed for MEDLINE]
6.

Abnormal growth in noonan syndrome: the challenge of optimal therapy.

Savage MO, Padidela R, Kirk JM, Malaquias AC, Jorge AA.

Pediatr Endocrinol Rev. 2009 Jun;6 Suppl 4:523-8. Review.

PMID:
19550387
[PubMed - indexed for MEDLINE]
7.

[Noonan syndrome: from phenotype to growth hormone therapy].

Malaquias AC, Ferreira LV, Souza SC, Arnhold IJ, Mendonça BB, Jorge AA.

Arq Bras Endocrinol Metabol. 2008 Jul;52(5):800-8. Review. Portuguese.

PMID:
18797587
[PubMed - indexed for MEDLINE]
Free Article
8.

Analysis of a de novo complex chromosome rearrangement involving chromosomes 4, 11, 12 and 13 and eight breakpoints by conventional cytogenetic, fluorescence in situ hybridization and spectral karyotyping.

Peschka B, Leygraaf J, Hansmann D, Hansmann M, Schröck E, Ried T, Engels H, Schwanitz G, Schubert R.

Prenat Diagn. 1999 Dec;19(12):1143-9. Review.

PMID:
10590433
[PubMed - indexed for MEDLINE]
9.

Noonan syndrome: clinical features, diagnosis, and management guidelines.

Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME, Roberts AE, Robinson W, Takemoto CM, Noonan JA.

Pediatrics. 2010 Oct;126(4):746-59. doi: 10.1542/peds.2009-3207. Epub 2010 Sep 27. Review.

PMID:
20876176
[PubMed - indexed for MEDLINE]
Free Article

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