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

被引：15

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

页数：4

共 50 条

[31] Genotype-Phenotype Correlations in Angelman Syndrome [J].

Yang, Lili ;

Shu, Xiaoli ;

Mao, Shujiong ;

Wang, Yi ;

Du, Xiaonan ;

Zou, Chaochun .

GENES, 2021, 12 (07)

[32] Genotype-Phenotype Correlations in Bardet-Biedl Syndrome [J].

Daniels, Anthony B. ;

Sandberg, Michael A. ;

Chen, Jianjun ;

Weigel-DiFranco, Carol ;

Hejtmancik, J. Fielding ;

Berson, Eliot L. .

ARCHIVES OF OPHTHALMOLOGY, 2012, 130 (07) :901-907

[33] Potential predictors of severe cardiovascular involvement in Marfan syndrome: the emphasized role of genotype-phenotype correlations in improving risk stratification-a literature review [J].

Stengl, Roland ;

Agg, Bence ;

Polos, Miklos ;

Matyas, Gabor ;

Szabo, Gabor ;

Merkely, Bela ;

Radovits, Tamas ;

Szabolcs, Zoltan ;

Benke, Kalman .

ORPHANET JOURNAL OF RARE DISEASES, 2021, 16 (01)

[34] NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation [J].

Pehlivan, Davut ;

Hullings, Melanie ;

Carvalho, Claudia M. B. ;

Gonzaga-Jauregui, Claudia G. ;

Loy, Elizabeth ;

Jackson, Laird G. ;

Krantz, Ian D. ;

Deardorff, Matthew A. ;

Lupski, James R. .

GENETICS IN MEDICINE, 2012, 14 (03) :313-322

[35] Genotype-Phenotype Correlation in Primary Carnitine Deficiency [J].

Rose, Emily C. ;

di San Filippo, Cristina Amat ;

Erlingsson, Uzochi C. Ndukwe ;

Ardon, Orly ;

Pasquali, Marzia ;

Longo, Nicola .

HUMAN MUTATION, 2012, 33 (01) :118-123

[36] Genotype-phenotype correlation in clubfoot (talipes equinovarus) [J].

Hordyjewska-Kowalczyk, Ewa ;

Nowosad, Karol ;

Jamsheer, Aleksander ;

Tylzanowski, Przemko .

JOURNAL OF MEDICAL GENETICS, 2022, 59 (03) :209-219

[37] Exploring genotype-phenotype correlation in nucleoporin nephropathy [J].

Pei, Yuxin ;

Jiang, Mengjie ;

Zhilang, Lin ;

Rong, Liping ;

Chen, Lizhi ;

Jiang, Xiaoyun .

PEDIATRIC RESEARCH, 2025,

[38] Genotype-phenotype correlation in patients with bicuspid aortic valve and aneurysm [J].

Kent, Kathleen C. ;

Crenshaw, Melissa L. ;

Goh, Denise L. M. ;

Dietz, Harry C. .

JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY, 2013, 146 (01) :158-+

[39] Genotype-phenotype correlation of Parkinson's disease with PRKN variants [J].

Yoshino, Hiroyo ;

Li, Yuanzhe ;

Nishioka, Kenya ;

Daida, Kensuke ;

Hayashida, Arisa ;

Ishiguro, Yuta ;

Yamada, Daisuke ;

Izawa, Nana ;

Nishi, Katsunori ;

Nishikawa, Noriko ;

Oyama, Genko ;

Hatano, Taku ;

Nakamura, Shinichiro ;

Yoritaka, Asako ;

Motoi, Yumiko ;

Funayama, Manabu ;

Hattori, Nobutaka .

NEUROBIOLOGY OF AGING, 2022, 114 :117-128

[40] Genotype-phenotype correlation in Tunisian patients with Amyotrophic Lateral Sclerosis [J].

Kacem, Imen ;

Sghaier, Ikram ;

Peverelli, Silvia ;

Souissi, Emira ;

Ticozzi, Nicola ;

Gharbi, Alya ;

Ratti, Antonia ;

Berrechid, Amina Gargouri ;

Silani, Vincenzo ;

Gouider, Riadh .

NEUROBIOLOGY OF AGING, 2022, 120 :27-33

← 1 2 3 4 5 →