SCOPUS 정보 검색 플랫폼

Pediatric Research

Volumn 52, Issue 4, 2002, Pages 471-

The first Noonan syndrome gene: PTPN11, which encodes the protein tyrosine phosphatase SHP-2

(1) Allanson, Judith a

a CHILDREN S HOSPITAL OF EASTERN ONTARIO (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN TYROSINE PHOSPHATASE;

AMINO ACID SUBSTITUTION; GENE FUNCTION; GENE INTERACTION; GENE LOCATION; GENETIC ANALYSIS; MARKER GENE; MISSENSE MUTATION; NOONAN SYNDROME; NOTE; PRIORITY JOURNAL; PTPN11 GENE;

EID: 0036788832 PISSN: 00313998 EISSN: None Source Type: Journal
DOI: 10.1203/00006450-200210000-00001 Document Type: Note

Times cited : (10)

References (5)

1
- 0023133725
- Noonan syndrome
- Allanson JE 1987 Noonan syndrome. J Med Genet 24:9-13
- (1987) J Med Genet , vol.24 , pp. 9-13
- Allanson, J.E.¹

2
- 0010536809
- Noonan syndrome
- Cassidy SB, Allanson JE (eds). Wiley, New York
- Allanson JE 2001 Noonan syndrome. In: Cassidy SB, Allanson JE (eds) Management of Genetic Syndromes. Wiley, New York, pp 253-268
- (2001) Management of Genetic Syndromes , pp. 253-268
- Allanson, J.E.¹

3
- 0028077697
- Mapping a gene for Noonan syndrome to the long arm of chromosome 12
- Jamieson CR, van der Burgt I, Brady AF, van Reen M, Elsawi MM, Hol F, Jeffery S, Patton MA, Mariman E 1994 Mapping a gene for Noonan syndrome to the long arm of chromosome 12. Nat Genet 8:357-360
- (1994) Nat Genet , vol.8 , pp. 357-360
- Jamieson, C.R.¹ Van der Burgt, I.² Brady, A.F.³ Van Reen, M.⁴ Elsawi, M.M.⁵ Hol, F.⁶ Jeffery, S.⁷ Patton, M.A.⁸ Mariman, E.⁹

4
- 18344385476
- 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 2001 Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 29:465-468
- (2001) Nat Genet , vol.29 , pp. 465-468
- Tartaglia, M.¹ Mehler, E.L.² Goldberg, R.³ Zampino, G.⁴ Brunner, H.G.⁵ Kremer, H.⁶ Van der Burgt, I.⁷ Crosby, A.H.⁸ Ion, A.⁹ Jeffery, S.¹⁰ Kalidas, K.¹¹ Patton, M.A.¹² Kucherlapati, R.S.¹³ Gelb, B.D.¹⁴

5
- 18344370436
- 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 2002 PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet 70:1555-1563
- (2002) Am J Hum Genet , vol.70 , pp. 1555-1563
- Tartaglia, M.¹ Kalidas, K.² Shaw, A.³ Song, X.⁴ Musat, D.L.⁵ Van der Burgt, I.⁶ Brunner, H.G.⁷ Bertola, D.R.⁸ Crosby, A.⁹ Ion, A.¹⁰ Kucherlapati, R.S.¹¹ Jeffery, S.¹² Patton, M.A.¹³ Gelb, B.D.¹⁴

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.