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Items: 1 to 20 of 113

1.

Noonan syndrome.

Bhambhani V, Muenke M.

Am Fam Physician. 2014 Jan 1;89(1):37-43.

2.

Noonan syndrome.

van der Burgt I.

Orphanet J Rare Dis. 2007 Jan 14;2:4. Review.

3.

Noonan syndrome.

Turner AM.

J Paediatr Child Health. 2014 Oct;50(10):E14-20. doi: 10.1111/j.1440-1754.2010.01970.x. Epub 2011 Jul 19. Review.

PMID:
21771153
4.

[Variability in clinical expression of Noonan syndrome--the report of two familial cases].

Klapecki J, Obersztyn E, Łaniewski-Wołłk M, Szpecht-Potocka A, Mazurczak T.

Wiad Lek. 2008;61(1-3):74-81. Polish.

PMID:
18717048
5.

Noonan syndrome: a clinical and genetic study of 31 patients.

Bertola DR, Sugayama SM, Albano LM, Kim CA, Gonzalez CH.

Rev Hosp Clin Fac Med Sao Paulo. 1999 Sep-Oct;54(5):147-50.

6.

Prenatal features of Noonan syndrome: prevalence and prognostic value.

Baldassarre G, Mussa A, Dotta A, Banaudi E, Forzano S, Marinosci A, Rossi C, Tartaglia M, Silengo M, Ferrero GB.

Prenat Diagn. 2011 Oct;31(10):949-54. doi: 10.1002/pd.2804. Epub 2011 Jul 11.

PMID:
21744363
7.

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.

8.

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
9.

Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome.

Shchelochkov OA, Patel A, Weissenberger GM, Chinault AC, Wiszniewska J, Fernandes PH, Eng C, Kukolich MK, Sutton VR.

Am J Med Genet A. 2008 Apr 15;146A(8):1042-8. doi: 10.1002/ajmg.a.32215.

PMID:
18348260
10.

Noonan syndrome and its related disorders.

Fukushima Y.

Acta Paediatr Jpn. 1996 Feb;38(1):102-4. Review.

PMID:
8992851
11.

Noonan syndrome: the changing phenotype.

Allanson JE, Hall JG, Hughes HE, Preus M, Witt RD.

Am J Med Genet. 1985 Jul;21(3):507-14.

PMID:
4025385
12.

[A patient with Noonan syndrome].

Bins A, Gortzak RA.

Ned Tijdschr Tandheelkd. 2013 Dec;120(12):671-5. Dutch.

PMID:
24555250
13.

The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria.

Gunay-Aygun M, Schwartz S, Heeger S, O'Riordan MA, Cassidy SB.

Pediatrics. 2001 Nov;108(5):E92.

PMID:
11694676
14.

Genetic counselling in Noonan syndrome.

Sharland M, Morgan M, Smith G, Burch M, Patton MA.

Am J Med Genet. 1993 Feb 15;45(4):437-40.

PMID:
8465845
15.

Twin infant with lymphatic dysplasia diagnosed with Noonan syndrome by molecular genetic testing.

Mathur D, Somashekar S, Navarrete C, Rodriguez MM.

Fetal Pediatr Pathol. 2014 Aug;33(4):253-7. doi: 10.3109/15513815.2014.904026. Epub 2014 Apr 22.

16.

[Clinical symptoms and molecular pathogenesis of Noonan syndrome--current concepts].

Klapecki J, Obersztyn E, Laniewski-Wollk M, Szpecht-Potocka A, Mazurczak T.

Med Wieku Rozwoj. 2006 Jan-Mar;10(1 Pt 2):289-308. Review. Polish.

PMID:
17028394
17.

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
18.

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.

19.

Further evidence of the importance of RIT1 in Noonan syndrome.

Bertola DR, Yamamoto GL, Almeida TF, Buscarilli M, Jorge AA, Malaquias AC, Kim CA, Takahashi VN, Passos-Bueno MR, Pereira AC.

Am J Med Genet A. 2014 Nov;164A(11):2952-7. doi: 10.1002/ajmg.a.36722. Epub 2014 Aug 13.

PMID:
25124994
20.

Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome.

Smpokou P, Tworog-Dube E, Kucherlapati RS, Roberts AE.

Am J Med Genet A. 2012 Dec;158A(12):3106-11. doi: 10.1002/ajmg.a.35639. Epub 2012 Nov 19.

PMID:
23165751
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