Genotype-phenotype correlations in caveolinopathy patients including two Japanese families with novel CAV3 gene mutations

被引：0
|
作者：
Sugie, K
Murayama, K
Noguchi, S
Hayashi, YK
Ueno, S
Nonaka, I
Nishino, I
机构：
来源：
ANNALS OF NEUROLOGY | 2005年 / 58卷
关键词：
D O I：
暂无
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：S30 / S30
页数：1
相关论文
共 50 条
  • [21] Genotype-phenotype correlations of UBA2 mutations in patients with ectrodactyly
    Aerden, Mio
    Bauters, Marijke
    Van Den Bogaert, Kris
    Vermeesch, Joris R.
    Holvoet, Maureen
    Plasschaert, Frank
    Devriendt, Koenraad
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2020, 63 (11)
  • [22] Identification of the mutations in BTD gene in Iranian patients with biotinidase deficiency and evaluating their genotype-phenotype correlations
    Azizinejad, Fatemeh
    Aminzadeh, Majid
    Tahmasebi-Birgani, Maryam
    Heidari, Solmaz
    Ghandil, Pegah
    GENE, 2025, 935
  • [23] Genotype-phenotype correlations in patients with Hyperinsulinaemic Hypoglycaemia due to mutations in the HNF4A gene
    Kapoor, Ritika
    Locke, Jonathan
    Colclough, Kevin
    Barrett, Timothy
    Shield, Julian
    Ellard, Sian
    Hussain, Khalid
    HORMONE RESEARCH, 2008, 70 : 40 - 41
  • [24] Genotype-Phenotype Correlations of KCNJ2 Mutations in Japanese Patients With Andersen-Tawil Syndrome
    Haruna, Yoshisumi
    Kobori, Atsushi
    Makiyama, Takeru
    Yoshida, Hidetada
    Akao, Masaharu
    Doi, Takahiro
    Tsuji, Keiko
    Ono, Seiko
    Nishio, Yukiko
    Shimizu, Wataru
    Inoue, Takehiko
    Murakami, Tomoaki
    Tsuboi, Naoya
    Yamanouchi, Hideo
    Ushinohama, Hiroya
    Nakamura, Yoshihide
    Yoshinaga, Masao
    Horigome, Hitoshi
    Aizawa, Yoshifusa
    Kita, Toru
    Horie, Minoru
    HUMAN MUTATION, 2007, 28 (02) : 208
  • [25] RET mutations in Macedonian patients with pheochromocytoma and paraganglioma: Genotype-phenotype correlations
    Jovanovic, R.
    Kostadinova-Kunovska, S.
    Janevska, V.
    Bogoeva, B.
    Spasevska, L.
    Trajkov, D.
    Petrusevska, G.
    VIRCHOWS ARCHIV, 2015, 467 : S14 - S15
  • [26] Genotype-phenotype correlations and effect of mutation location in Japanese CADASIL patients
    Mukai, Mao
    Mizuta, Ikuko
    Watanabe-Hosomi, Akiko
    Koizumi, Takashi
    Matsuura, Jun
    Hamano, Ai
    Tomimoto, Hidekazu
    Mizuno, Toshiki
    JOURNAL OF HUMAN GENETICS, 2020, 65 (08) : 637 - 646
  • [27] Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations
    Hewamadduma, Channa A.
    Hoggard, Nigel
    O'Malley, Ronan
    Robinson, Megan K.
    Beauchamp, Nick J.
    Segamogaite, Ruta
    Martindale, Jo
    Rodgers, Tobias
    Rao, Ganesh
    Sarrigiannis, Ptolemaios
    Shanmugarajah, Priya
    Zis, Panagiotis
    Sharrack, Basil
    McDermott, Christopher J.
    Shaw, Pamela J.
    Hadjivassiliou, Marios
    NEUROLOGY-GENETICS, 2018, 4 (06)
  • [28] Patients with a Wide Range of Disorders Related to WFS1 Gene Variants: Novel Mutations and Genotype-Phenotype Correlations
    Grzybowska-Adamowicz, Julia
    Gadzalska, Karolina
    Jakiel, Paulina
    Juscinska, Ewa
    Gorzadek, Monika
    Skoczylas, Sebastian
    Ploszaj, Tomasz
    Jarosz-Chobot, Przemyslawa
    Kowalska, Irina
    Mysliwiec, Malgorzata
    Szadkowska, Agnieszka
    Zmyslowska, Agnieszka
    GENES, 2024, 15 (12)
  • [29] The roles of two novel FBN1 gene mutations in the genotype-phenotype correlations of Marfan syndrome and ectopia lentis patients with marfanoid habitus
    Li, Dan
    Yu, Jie
    Gu, Feng
    Pang, Xiuqin
    Ma, Xixin
    Li, Rong
    Liu, Ningpu
    Ma, Xu
    GENETIC TESTING, 2008, 12 (02): : 325 - 330
  • [30] Identification of novel ACAN mutations in two Chinese families and genotype-phenotype correlation in patients with 74 pathogenic ACAN variations
    Wei, Ming
    Ying, Yanqin
    Li, Zhuxi
    Weng, Ying
    Luo, Xiaoping
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2021, 9 (11):
12345