In search of the Holy Grail:: NF1 mutation analysis and genotype-phenotype correlation

被引:0
|
作者
Viskochil, D [1 ]
机构
[1] Univ Utah, Div Med Genet, Salt Lake City, UT 84112 USA
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:245 / 247
页数:3
相关论文
共 50 条
  • [41] Mutation Spectrum and Genotype-Phenotype Correlation in Cornelia de Lange Syndrome
    Mannini, Linda
    Cucco, Francesco
    Quarantotti, Valentina
    Krantz, Ian D.
    Musio, Antonio
    HUMAN MUTATION, 2013, 34 (12) : 1589 - 1596
  • [42] Mutation spectrum and genotype-phenotype correlation of inherited retinal dystrophy in Taiwan
    Chen, Zhen-Ji
    Lin, Keng-Hung
    Lee, Shi-Huang
    Shen, Ren-Juan
    Feng, Zhuo-Kun
    Wang, Xiao-Fang
    Huang, Xiu-Feng
    Huang, Zhi-Qin
    Jin, Zi-Bing
    CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 2020, 48 (04): : 486 - 499
  • [43] Mutation screening and genotype-phenotype correlation in 32 families with Wilson disease
    Bost, M
    Lachaux, A
    Accominotti, M
    Vandenberghe, A
    JOURNAL OF TRACE ELEMENTS IN EXPERIMENTAL MEDICINE, 1999, 12 (04): : 321 - 329
  • [44] Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation
    Frasquet, Marina
    Rojas-Garcia, Ricard
    Argente-Escrig, Herminia
    Vazquez-Costa, Juan Francisco
    Muelas, Nuria
    Vilchez, Juan Jesus
    Sivera, Rafael
    Millet, Elvira
    Barreiro, Marisa
    Diaz-Manera, Jordi
    Turon-Sans, Janina
    Cortes-Vicente, Elena
    Querol, Luis
    Ramirez-Jimenez, Laura
    Martinez-Rubio, Dolores
    Sanchez-Monteagudo, Ana
    Espinos, Carmen
    Sevilla, Teresa
    Lupo, Vincenzo
    EUROPEAN JOURNAL OF NEUROLOGY, 2021, 28 (04) : 1334 - 1343
  • [45] Genotype-phenotype correlation analysis in Japanese patients with pachydermoperiostosis
    Tanaka, R.
    Niizeki, H.
    Nomura, T.
    Seki, A.
    Narumi, S.
    Nakabayashi, K.
    Yoshida, K.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2023, 143 (05) : S73 - S73
  • [46] Genotype-Phenotype Correlation in Neurofibromatosis Type 1: Evidence for a Mild Phenotype Associated with Splicing Variants Leading to In-Frame Skipping of NF1 Exon 24 [19a]
    Chen, Yunjia
    Fu, Yulong
    Koczkowska, Magdalena
    Callens, Tom
    Gomes, Alicia
    Liu, Jian
    Bradley, William
    Brown, Bryce
    Shaw, Brandon
    D'Agostino, Daniela
    Fu, Chuanhua
    Wallis, Deeann
    CANCERS, 2024, 16 (13)
  • [47] Mutation spectrum and genotype-phenotype correlation of pediatric patients with methylmalonic acidemia
    Lu, Fengying
    Zhang, Bin
    Yang, Yuqi
    Shi, Ye
    Zheng, Fangxiu
    Zhou, Qin
    Chen, Yingping
    Zhou, Lingna
    Yu, Bin
    PEDIATRIC RESEARCH, 2024,
  • [48] Genotype-Phenotype Correlation in a New Fabry-Disease-Causing Mutation
    Cerkauskaite, Agne
    Cerkauskiene, Rimante
    Miglinas, Marius
    Laurinavicius, Arvydas
    Ding, Can
    Rolfs, Arndt
    Venceviciene, Lina
    Barysiene, Jurate
    Kazenaite, Edita
    Sadauskiene, Egle
    MEDICINA-LITHUANIA, 2019, 55 (05):
  • [49] NF1 Microdeletions in Neurofibromatosis Type 1: From Genotype to Phenotype
    Pasmant, Eric
    Sabbagh, Audrey
    Spurlock, Gill
    Laurendeau, Ingrid
    Grillo, Elisa
    Hamel, Marie-Jose
    Martin, Ludovic
    Barbarot, Sebastien
    Leheup, Bruno
    Rodriguez, Diana
    Lacombe, Didier
    Dollfus, Helene
    Pasquier, Laurent
    Isidor, Bertrand
    Ferkal, Salah
    Soulier, Jean
    Sanson, Marc
    Dieux-Coeslier, Anne
    Bieche, Ivan
    Parfait, Beatrice
    Vidaud, Michel
    Wolkenstein, Pierre
    Upadhyaya, Meena
    Vidaud, Dominique
    HUMAN MUTATION, 2010, 31 (06) : E1506 - E1518
  • [50] The analysis of genotype-phenotype correlation in familial Mediterranean fever
    Ozturk, Kubra
    Cakan, Mustafa
    PEDIATRICS INTERNATIONAL, 2022, 64 (01)