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Items: 1 to 20 of 42

1.

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.

PMID:
16987887
2.

Stops along the RAS pathway in human genetic disease.

Bentires-Alj M, Kontaridis MI, Neel BG.

Nat Med. 2006 Mar;12(3):283-5. No abstract available.

PMID:
16520774
3.

Germline KRAS mutations cause Noonan syndrome.

Schubbert S, Zenker M, Rowe SL, Böll S, Klein C, Bollag G, van der Burgt I, Musante L, Kalscheuer V, Wehner LE, Nguyen H, West B, Zhang KY, Sistermans E, Rauch A, Niemeyer CM, Shannon K, Kratz CP.

Nat Genet. 2006 Mar;38(3):331-6. Epub 2006 Feb 12. Erratum in: Nat Genet. 2006 May;38(5):598.

PMID:
16474405
4.

Noonan syndrome: relationships between genotype, growth, and growth factors.

Limal JM, Parfait B, Cabrol S, Bonnet D, Leheup B, Lyonnet S, Vidaud M, Le Bouc Y.

J Clin Endocrinol Metab. 2006 Jan;91(1):300-6. Epub 2005 Nov 1.

PMID:
16263833
5.

Improved final height with long-term growth hormone treatment in Noonan syndrome.

Osio D, Dahlgren J, Wikland KA, Westphal O.

Acta Paediatr. 2005 Sep;94(9):1232-7.

PMID:
16203673
6.

Noonan syndrome and related disorders: genetics and pathogenesis.

Tartaglia M, Gelb BD.

Annu Rev Genomics Hum Genet. 2005;6:45-68. Review.

PMID:
16124853
7.

Prenatal DNA diagnosis of Noonan syndrome in a fetus with massive hygroma colli, pleural effusion and ascites.

Schlüter G, Steckel M, Schiffmann H, Harms K, Viereck V, Emons G, Burfeind P, Pauer HU.

Prenat Diagn. 2005 Jul;25(7):574-6.

PMID:
16032767
8.

The use of recombinant factor VIIa in a patient with Noonan syndrome and life-threatening bleeding.

Tofil NM, Winkler MK, Watts RG, Noonan J.

Pediatr Crit Care Med. 2005 May;6(3):352-4.

PMID:
15857538
9.

Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature.

Jongmans M, Sistermans EA, Rikken A, Nillesen WM, Tamminga R, Patton M, Maier EM, Tartaglia M, Noordam K, van der Burgt I.

Am J Med Genet A. 2005 Apr 15;134A(2):165-70.

PMID:
15723289
10.

Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome.

Lee JS, Tartaglia M, Gelb BD, Fridrich K, Sachs S, Stratakis CA, Muenke M, Robey PG, Collins MT, Slavotinek A.

J Med Genet. 2005 Feb;42(2):e11. No abstract available.

11.

Psychological profile of children with Noonan syndrome.

Lee DA, Portnoy S, Hill P, Gillberg C, Patton MA.

Dev Med Child Neurol. 2005 Jan;47(1):35-8.

PMID:
15686287
12.

Chylothorax after surgery for thoracic deformity in Noonan syndrome.

Bottner F, Sandmann C, Semik M, Ramm O, Winkelmann W, Liljenqvist U.

Orthopedics. 2005 Jan;28(1):71-3. No abstract available.

PMID:
15682581
13.

Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome.

Tartaglia M, Cordeddu V, Chang H, Shaw A, Kalidas K, Crosby A, Patton MA, Sorcini M, van der Burgt I, Jeffery S, Gelb BD.

Am J Hum Genet. 2004 Sep;75(3):492-7. Epub 2004 Jul 9.

14.

Ocular manifestations of Noonan syndrome in the pediatric patient.

Reynolds DJ, Rubin SE, Fox J, Kodsi SR.

J AAPOS. 2004 Jun;8(3):282-3.

PMID:
15226733
15.

The 'Shp'ing news: SH2 domain-containing tyrosine phosphatases in cell signaling.

Neel BG, Gu H, Pao L.

Trends Biochem Sci. 2003 Jun;28(6):284-93. Review.

PMID:
12826400
16.

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, van der Burgt I, Crosby AH, Ion A, Jeffery S, Kalidas K, Patton MA, Kucherlapati RS, Gelb BD.

Nat Genet. 2001 Dec;29(4):465-8. Erratum in: Nat Genet 2002 Jan;30(1):123. Nat Genet 2001 Dec;29(4):491.

PMID:
11704759
17.

Growth hormone treatment in children with Noonan's syndrome: four year results of a partly controlled trial.

Noordam C, Van der Burgt I, Sengers RC, Delemarre-van de Waal HA, Otten BJ.

Acta Paediatr. 2001 Aug;90(8):889-94.

PMID:
11529537
18.

Genetic heterogeneity in Noonan syndrome: evidence for an autosomal recessive form.

van Der Burgt I, Brunner H.

Am J Med Genet. 2000 Sep 4;94(1):46-51.

PMID:
10982482
19.

Patterns of cognitive functioning in school-aged children with Noonan syndrome associated with variability in phenotypic expression.

van der Burgt I, Thoonen G, Roosenboom N, Assman-Hulsmans C, Gabreels F, Otten B, Brunner HG.

J Pediatr. 1999 Dec;135(6):707-13.

PMID:
10586173
20.

Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal.

Marino B, Digilio MC, Toscano A, Giannotti A, Dallapiccola B.

J Pediatr. 1999 Dec;135(6):703-6.

PMID:
10586172

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