Format
Sort by
Items per page

Send to

Choose Destination

Links from MedGen

Items: 1 to 20 of 93

1.

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
2.

Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia.

Niihori T, Aoki Y, Ohashi H, Kurosawa K, Kondoh T, Ishikiriyama S, Kawame H, Kamasaki H, Yamanaka T, Takada F, Nishio K, Sakurai M, Tamai H, Nagashima T, Suzuki Y, Kure S, Fujii K, Imaizumi M, Matsubara Y.

J Hum Genet. 2005;50(4):192-202. Epub 2005 Apr 15.

PMID:
15834506
3.

Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.

Kalidas K, Shaw AC, Crosby AH, Newbury-Ecob R, Greenhalgh L, Temple IK, Law C, Patel A, Patton MA, Jeffery S.

J Hum Genet. 2005;50(1):21-5. Epub 2004 Dec 10.

PMID:
15690106
4.

Activating mutations of the noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia.

Bentires-Alj M, Paez JG, David FS, Keilhack H, Halmos B, Naoki K, Maris JM, Richardson A, Bardelli A, Sugarbaker DJ, Richards WG, Du J, Girard L, Minna JD, Loh ML, Fisher DE, Velculescu VE, Vogelstein B, Meyerson M, Sellers WR, Neel BG.

Cancer Res. 2004 Dec 15;64(24):8816-20.

5.

Neuronal Shp2 tyrosine phosphatase controls energy balance and metabolism.

Zhang EE, Chapeau E, Hagihara K, Feng GS.

Proc Natl Acad Sci U S A. 2004 Nov 9;101(45):16064-9. Epub 2004 Nov 1.

6.

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.

7.

Type 1 Arnold-Chiari malformation and Noonan syndrome. A new diagnostic feature?

Holder-Espinasse M, Winter RM.

Clin Dysmorphol. 2003 Oct;12(4):275.

PMID:
14564218
8.

A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome).

FORD CE, JONES KW, POLANI PE, DE ALMEIDA JC, BRIGGS JH.

Lancet. 1959 Apr 4;1(7075):711-3. No abstract available.

PMID:
13642858
9.
10.

Noonan syndrome with leukaemoid reaction and overproduction of catecholamines: a case report.

Kondoh T, Ishii E, Aoki Y, Shimizu T, Zaitsu M, Matsubara Y, Moriuchi H.

Eur J Pediatr. 2003 Jul;162(7-8):548-549. doi: 10.1007/s00431-003-1227-6. Epub 2003 May 9. No abstract available.

PMID:
12739139
11.

Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.

Tartaglia M, Niemeyer CM, Fragale A, Song X, Buechner J, Jung A, Hählen K, Hasle H, Licht JD, Gelb BD.

Nat Genet. 2003 Jun;34(2):148-50.

PMID:
12717436
12.

Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.

Musante L, Kehl HG, Majewski F, Meinecke P, Schweiger S, Gillessen-Kaesbach G, Wieczorek D, Hinkel GK, Tinschert S, Hoeltzenbein M, Ropers HH, Kalscheuer VM.

Eur J Hum Genet. 2003 Feb;11(2):201-6. Erratum in: Eur J Hum Genet. 2003 Jul;11(7):551.

13.

PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning.

Schollen E, Matthijs G, Gewillig M, Fryns JP, Legius E.

Eur J Hum Genet. 2003 Jan;11(1):85-8.

15.

Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome.

Ion A, Tartaglia M, Song X, Kalidas K, van der Burgt I, Shaw AC, Ming JE, Zampino G, Zackai EH, Dean JC, Somer M, Parenti G, Crosby AH, Patton MA, Gelb BD, Jeffery S.

Hum Genet. 2002 Oct;111(4-5):421-7. Epub 2002 Aug 24. Review.

PMID:
12384786
16.

PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.

Maheshwari M, Belmont J, Fernbach S, Ho T, Molinari L, Yakub I, Yu F, Combes A, Towbin J, Craigen WJ, Gibbs R.

Hum Mutat. 2002 Oct;20(4):298-304.

PMID:
12325025
17.

PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.

Kosaki K, Suzuki T, Muroya K, Hasegawa T, Sato S, Matsuo N, Kosaki R, Nagai T, Hasegawa Y, Ogata T.

J Clin Endocrinol Metab. 2002 Aug;87(8):3529-33.

PMID:
12161469
18.

Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.

Digilio MC, Conti E, Sarkozy A, Mingarelli R, Dottorini T, Marino B, Pizzuti A, Dallapiccola B.

Am J Hum Genet. 2002 Aug;71(2):389-94. Epub 2002 Jun 7.

19.

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, Brunner HG, Bertola DR, Crosby A, Ion A, Kucherlapati RS, Jeffery S, Patton MA, Gelb BD.

Am J Hum Genet. 2002 Jun;70(6):1555-63. Epub 2002 May 1.

20.

SHP-2 tyrosine phosphatase as an intracellular target of Helicobacter pylori CagA protein.

Higashi H, Tsutsumi R, Muto S, Sugiyama T, Azuma T, Asaka M, Hatakeyama M.

Science. 2002 Jan 25;295(5555):683-6. Epub 2001 Dec 13.

Supplemental Content

Support Center