SCOPUS 정보 검색 플랫폼

Volumn 358, Issue 9298, 2001, Pages 2079-2080

PTEN mutations and Proteus syndrome [2] (multiple letters)

(11) Biesecker, Leslie G a Rosenberg, Marjorie J b Vacha, Scott b Turner, Joyce T b Cohen, M Micheal b Eng, Charis c,d Thiele, Hannelore e Zhou, Xiao Ping e Gorlin, Robert J e Hennekam, Raoul C M e Winter, Robin M e

a NATIONAL HUMAN GENOME RESEARCH INSTITUTE (United States)

b DALHOUSIE UNIVERSITY (Canada)

c OHIO STATE UNIVERSITY (United States)

d THE OHIO STATE UNIVERSITY WEXNER MEDICAL CENTER (United States)

e NONE

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PHOSPHATASE; PTEN PROTEIN, HUMAN; TUMOR SUPPRESSOR PROTEIN;

CLINICAL FEATURE; COWDEN SYNDROME; DENATURING GRADIENT GEL ELECTROPHORESIS; DIAGNOSTIC ACCURACY; DIAGNOSTIC ERROR; GENE MUTATION; GENE SEQUENCE; HUMAN; HYPEROSTOSIS; LETTER; MALFORMATION SYNDROME; MULTIPLE CANCER; NEVUS; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; DIFFERENTIAL DIAGNOSIS; GENETIC POLYMORPHISM; GENETICS; ISOLATION AND PURIFICATION; NOTE;

DIAGNOSIS, DIFFERENTIAL; HUMANS; PHOSPHORIC MONOESTER HYDROLASES; POLYMORPHISM, GENETIC; PROTEUS SYNDROME; PTEN PHOSPHOHYDROLASE; TUMOR SUPPRESSOR PROTEINS; DIAGNOSTIC ERRORS;

EID: 0035895042 PISSN: 01406736 EISSN: None Source Type: Journal
DOI: 10.1016/s0140-6736(01)07109-4 Document Type: Letter

Times cited : (53)

References (5)

1
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- GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome
- S Kang JM Graham AH Olney LG Biesecker GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome Nat Genet 15 1997 266 268
- (1997) Nat Genet , vol.15 , pp. 266-268
- Kang, S¹ Graham, JM² Olney, AH³ Biesecker, LG⁴

2
- 0032833002
- Point mutations throughout the GLI3 gene cause Greig cephalosyndactyly syndrome
- M Kalff-Suske A Wild J Topp Point mutations throughout the GLI3 gene cause Greig cephalosyndactyly syndrome Hum Mol Genet 8 1999 1769 1777
- (1999) Hum Mol Genet , vol.8 , pp. 1769-1777
- Kalff-Suske, M¹ Wild, A² Topp, J³

3
- 0031279063
- Mutation in GLI3 in postaxial polydactyly type A
- U Radhakrishna A Wild KH Gizeschik SE Antonarakis Mutation in GLI3 in postaxial polydactyly type A Nat Genet 17 1997 269 271
- (1997) Nat Genet , vol.17 , pp. 269-271
- Radhakrishna, U¹ Wild, A² Gizeschik, KH³ Antonarakis, SE⁴

4
- 0032853452
- PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome
- DJ Marsh JB Kum KL Lunetta PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome Hum Mol Genet 8 1999 1461 1472
- (1999) Hum Mol Genet , vol.8 , pp. 1461-1472
- Marsh, DJ¹ Kum, JB² Lunetta, KL³

5
- 0034677493
- Conversion of diploidy to haploidy
- H Yan N Papadopoulos G Marra Conversion of diploidy to haploidy Nature 403 2000 723 724
- (2000) Nature , vol.403 , pp. 723-724
- Yan, H¹ Papadopoulos, N² Marra, G³

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.