PTPN11, SOS1, KRAS, and RAF1 Gene Analysis, and Genotype-Phenotype Correlation, in Korean Patients with Noonan Syndrome

被引：0
|
作者：
Ko, Jung Min [1 ]
Kim, Jae-Min [2 ]
Yoo, Han-Wook [1 ]
机构：
[1] Univ Ulsan, Coll Med, Asan Med Ctr, Ulsan, South Korea
[2] Univ Ulsan, Coll Med, Asan Med Ctr, Genome Res Ctr Birth Defects & Genet Dis, Ulsan, South Korea
来源：
HORMONE RESEARCH | 2008年 / 70卷
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：18 / 18
页数：1
相关论文
共 50 条
  • [1] PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome
    Ko, Jung Min
    Kim, Jae-Min
    Kim, Gu-Hwan
    Yoo, Han-Wook
    JOURNAL OF HUMAN GENETICS, 2008, 53 (11-12) : 999 - 1006
  • [2] PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype–phenotype correlation in Korean patients with Noonan syndrome
    Jung Min Ko
    Jae-Min Kim
    Gu-Hwan Kim
    Han-Wook Yoo
    Journal of Human Genetics, 2008, 53 : 999 - 1006
  • [3] PTPN11, SOS1, KRAS and RAF: genotype-phenotype correlations in Noonan syndrome
    Heredia, Claudia E.
    Balboa, Emilia
    Castro-Feijoo, Lidia
    Rica, Itxaso
    Barreiro, Jesus
    Eiris, Jesus
    Cabanas, Paloma
    Martinez, Isabel M.
    Fernandez-Toral, J.
    Carracedo, Angel
    Pombo, Manuel
    Barros, Francisco
    HORMONE RESEARCH, 2009, 72 : 317 - 317
  • [4] Pre- and Postnatal Growth Pattern in Noonan Syndrome (NS) Patients According to PTPN11, SOS1 and RAF1 Genotypes.
    Malaquias, A. C.
    Brasil, A. S.
    Wanderley, L. T.
    Pereira, A. C.
    Bertola, D. R.
    Jorge, A. A. L.
    ENDOCRINE REVIEWS, 2010, 31 (03)
  • [5] Genotype/phenotype correlation in LEOPARD syndrome: different mutations in PTPN11 and RAF1 promote Hypertrophic Cardiomyopathy
    Francalanci, P.
    Lepri, F.
    Digilio, M. C.
    Dallapiccola, B.
    Di Carlo, D.
    Callea, F.
    HISTOPATHOLOGY, 2012, 61 : 38 - 38
  • [6] Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?
    Brasil, Amanda Salem
    Malaquias, Alexsandra C.
    Wanderley, Luciana Turolla
    Kim, Chong Ae
    Krieger, Jose Eduardo
    Jorge, Alexander A. L.
    Pereira, Alexandre C.
    Bertola, Debora Romeo
    ARQUIVOS BRASILEIROS DE ENDOCRINOLOGIA E METABOLOGIA, 2010, 54 (08) : 717 - 722
  • [7] Tumor Spectrum in Children With Noonan Syndrome and SOS1 or RAF1 Mutations
    Denayer, Ellen
    Devriendt, Koen
    de Ravel, Thomy
    Van Buggenhout, Griet
    Smeets, Eric
    Francois, Inge
    Sznajer, Yves
    Craen, Margarita
    Leventopoulos, George
    Mutesa, Leon
    Vandecasseye, Willy
    Massa, Guy
    Kayserili, Hulya
    Sciot, Raf
    Fryns, Jean-Pierre
    Legius, Eric
    GENES CHROMOSOMES & CANCER, 2010, 49 (03): : 242 - 252
  • [8] PTPN11 mutations in Noonan syndrome:: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity
    Tartaglia, M
    Kalidas, K
    Shaw, A
    Song, XL
    Musat, DL
    van der Burgt, I
    Brunner, HG
    Bertola, DR
    Crosby, A
    Ion, A
    Kucherlapati, RS
    Jeffery, S
    Patton, MA
    Gelb, BD
    AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 70 (06) : 1555 - 1563
  • [9] SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions
    Claire Beneteau
    Hélène Cavé
    Anne Moncla
    Nathalie Dorison
    Arnold Munnich
    Alain Verloes
    Bruno Leheup
    European Journal of Human Genetics, 2009, 17 : 1216 - 1221
  • [10] SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions
    Beneteau, Claire
    Cave, Helene
    Moncla, Anne
    Dorison, Nathalie
    Munnich, Arnold
    Verloes, Alain
    Leheup, Bruno
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2009, 17 (10) : 1216 - 1221
12345