Looking for the Missing Links Challenges in the Search for Genotype-Phenotype Correlation in Marfan Syndrome

被引:13
作者
De Backer, Julie [1 ,2 ]
Campens, Laurence [2 ]
Mosquera, Laura Muino [1 ,3 ]
机构
[1] Ghent Univ Hosp, Ctr Med Genet, C Heymanslaan 10, B-9000 Ghent, Belgium
[2] Ghent Univ Hosp, Dept Cardiol, Ghent, Belgium
[3] Ghent Univ Hosp, Div Pediat Cardiol, Ghent, Belgium
来源
CIRCULATION-GENOMIC AND PRECISION MEDICINE | 2018年 / 11卷 / 06期
关键词
Editorials; aneurysm; aorta; genetics; Marfan syndrome; FBN1; MUTATIONS; LOSARTAN; DISEASE;
D O I
10.1161/CIRCGEN.118.002185
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页数:4
相关论文
共 50 条
  • [21] Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome
    Sheikhzadeh, S.
    Kade, C.
    Keyser, B.
    Stuhrmann, M.
    Arslan-Kirchner, M.
    Rybczynski, M.
    Bernhardt, A. M.
    Habermann, C. R.
    Hillebrand, M.
    Mir, T.
    Robinson, P. N.
    Berger, J.
    Detter, C.
    Blankenberg, S.
    Schmidtke, J.
    von Kodolitsch, Y.
    CLINICAL GENETICS, 2012, 82 (03) : 240 - 247
  • [22] Genotype-phenotype correlation in pseudoxanthoma elasticum
    Bartstra, Jonas W.
    Risseeuw, Sara
    de Jong, Pim A.
    van Os, Bram
    Kalsbeek, Lianne
    Mol, Chris
    Baas, Annette F.
    Verschuere, Shana
    Vanakker, Olivier
    Florijn, Ralph J.
    Hendrikse, Jeroen
    Mali, Willem
    Imhof, Saskia
    Ossewaarde-van Norel, Jeannette
    van Leeuwen, Redmer
    Spiering, Wilko
    ATHEROSCLEROSIS, 2021, 324 : 18 - 26
  • [23] Genotype-Phenotype Correlation in Children: The Impact of FBN1 Variants on Pediatric Marfan Care
    Stark, Veronika C.
    Hensen, Flemming
    Kutsche, Kerstin
    Kortuem, Fanny
    Olfe, Jakob
    Wiegand, Peter
    von Kodolitsch, Yskert
    Kozlik-Feldmann, Rainer
    Mueller, Gotz C.
    Mir, Thomas S.
    GENES, 2020, 11 (07) : 1 - 15
  • [24] Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia
    Arbiv, O. A.
    Cuvelier, G.
    Klaassen, R. J.
    Fernandez, C. V.
    Robitaille, N.
    Steele, M.
    Breakey, V.
    Abish, S.
    Wu, J.
    Sinha, R.
    Silva, M.
    Goodyear, L.
    Jardine, L.
    Lipton, J. H.
    Corriveau-Bourque, C.
    Brossard, J.
    Michon, B.
    Ghemlas, I.
    Waespe, N.
    Zlateska, B.
    Sung, L.
    Cada, M.
    Dror, Y.
    CLINICAL GENETICS, 2018, 93 (02) : 320 - 328
  • [25] Detection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport Syndrome
    Horinouchi, Tomoko
    Nozu, Kandai
    Yamamura, Tomohiko
    Minamikawa, Shogo
    Omori, Takashi
    Nakanishi, Keita
    Fujimura, Junya
    Ashida, Akira
    Kitamura, Mineaki
    Kawano, Mitsuhiro
    Shimabukuro, Wataru
    Kitabayashi, Chizuko
    Imafuku, Aya
    Tamagaki, Keiichi
    Kamei, Koichi
    Okamoto, Kenjirou
    Fujinaga, Shuichiro
    Oka, Masafumi
    Igarashi, Toru
    Miyazono, Akinori
    Sawanobori, Emi
    Fujimaru, Rika
    Nakanishi, Koichi
    Shima, Yuko
    Matsuo, Masafumi
    Ye, Ming Juan
    Nozu, Yoshimi
    Morisada, Naoya
    Kaito, Hiroshi
    Iijima, Kazumoto
    JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2018, 29 (08): : 2244 - 2254
  • [26] A case of G1013R FBN1 mutation: A potential genotype-phenotype correlation in severe Marfan syndrome
    Willis, Brooke R.
    Lee, Mianne
    Rethanavelu, Kavitha
    Fung, Jasmine L. F.
    Wong, Rosanna M. S.
    Hui, Peter
    Yeung, Kit S.
    Lo, Ivan F. M.
    Chung, Brian H. Y.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2020, 182 (06) : 1329 - 1335
  • [27] Cancer risk and genotype-phenotype correlation in Japanese patients with Cowden syndrome
    Teramae, Satoshi
    Muguruma, Naoki
    Okamoto, Koichi
    Oseto, Kumiko
    Nishikawa, Ryutaro
    Tanoue, Takayuki
    Hirata, Keiji
    Yanai, Shunichi
    Matsumoto, Takayuki
    Shimizu, Seiji
    Miwa, Jun
    Sasaki, Yu
    Yashima, Kazuo
    Ohnuma, Hiroyuki
    Sato, Yasushi
    Kitayama, Yoshitaka
    Ohda, Yoshio
    Yamauchi, Atsushi
    Sanomura, Yoji
    Tanaka, Kumiko
    Kubo, Yoshiaki
    Ishikawa, Hideki
    Bando, Yoshimi
    Sonoda, Tomoko
    Takayama, Tetsuji
    INTERNATIONAL JOURNAL OF CLINICAL ONCOLOGY, 2022, 27 (04) : 639 - 647
  • [28] Ophthalmological and Orthoptic Findings in Down Syndrome: Is Genotype-Phenotype Correlation Possible?
    Koyuncuoglu, Melisa Akgoz
    Sekeroglu, Hande Taylan
    Demir, Gizem Urel
    Kiper, Ozlem Simsek
    Karakaya, Jale
    Utine, Gulen Eda
    MOLECULAR SYNDROMOLOGY, 2025,
  • [29] Genotype-Phenotype Correlation for Predicting Cochlear Implant Outcome: Current Challenges and Opportunities
    Eshraghi, Adrien A.
    Polineni, Sai P.
    Davies, Camron
    Shahal, David
    Mittal, Jeenu
    Al-Zaghal, Zaid
    Sinha, Rahul
    Jindal, Urmi
    Mittal, Rahul
    FRONTIERS IN GENETICS, 2020, 11
  • [30] Genotype-Phenotype Correlations in Angelman Syndrome
    Yang, Lili
    Shu, Xiaoli
    Mao, Shujiong
    Wang, Yi
    Du, Xiaonan
    Zou, Chaochun
    GENES, 2021, 12 (07)