ScienceGate
Advanced Search
Author Search
Journal Finder
Blog
Sign in / Sign up
ScienceGate
Search
Author Search
Journal Finder
Blog
Sign in / Sign up
Mutation Spectrum and Genotype-Phenotype Correlation in Cornelia de Lange Syndrome
Human Mutation
◽
10.1002/humu.22430
◽
2013
◽
Vol 34
(12)
◽
pp. 1589-1596
◽
Cited By ~ 102
Author(s):
Linda Mannini
◽
Francesco Cucco
◽
Valentina Quarantotti
◽
Ian D. Krantz
◽
Antonio Musio
Keyword(s):
Mutation Spectrum
◽
Cornelia De Lange Syndrome
◽
Phenotype Correlation
◽
Genotype Phenotype Correlation
◽
Cornelia De Lange
Download Full-text
Related Documents
Cited By
References
Mutational and genotype–phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome
American Journal of Medical Genetics Part A
◽
10.1002/ajmg.a.31305
◽
2006
◽
Vol 140A
(14)
◽
pp. 1531-1541
◽
Cited By ~ 41
Author(s):
Jiong Yan
◽
Gulam Mustafa Saifi
◽
Tomasz H. Wierzba
◽
Marjorie Withers
◽
Gabriel A. Bien-Willner
◽
...
Keyword(s):
Cornelia De Lange Syndrome
◽
Phenotype Correlation
◽
Genotype Phenotype Correlation
◽
Correlation Analyses
◽
Cornelia De Lange
Download Full-text
NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype–phenotype correlation
Genetics in Medicine
◽
10.1038/gim.2011.13
◽
2012
◽
Vol 14
(3)
◽
pp. 313-322
◽
Cited By ~ 20
Author(s):
Davut Pehlivan
◽
Melanie Hullings
◽
Claudia M.B. Carvalho
◽
Claudia G. Gonzaga-Jauregui
◽
Elizabeth Loy
◽
...
Keyword(s):
Cornelia De Lange Syndrome
◽
Phenotype Correlation
◽
Genotype Phenotype Correlation
◽
Cornelia De Lange
Download Full-text
Genetic basis of index patients with familial hypercholesterolemia in Chinese population: mutation spectrum and genotype-phenotype correlation
Lipids in Health and Disease
◽
10.1186/s12944-018-0900-8
◽
2018
◽
Vol 17
(1)
◽
Cited By ~ 6
Author(s):
Di Sun
◽
Bing-Yang Zhou
◽
Sha Li
◽
Ning-Ling Sun
◽
Qi Hua
◽
...
Keyword(s):
Familial Hypercholesterolemia
◽
Chinese Population
◽
Genetic Basis
◽
Mutation Spectrum
◽
Phenotype Correlation
◽
Genotype Phenotype Correlation
Download Full-text
Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy
Experimental Eye Research
◽
10.1016/j.exer.2020.107950
◽
2020
◽
Vol 192
◽
pp. 107950
◽
Cited By ~ 6
Author(s):
Gabrielle Wheway
◽
Andrew Douglas
◽
Diana Baralle
◽
Elsa Guillot
Keyword(s):
Retinitis Pigmentosa
◽
Mutation Spectrum
◽
Phenotype Correlation
◽
Genotype Phenotype Correlation
Download Full-text
Correction to: Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing
Osteoporosis International
◽
10.1007/s00198-017-4250-6
◽
2017
◽
Vol 29
(1)
◽
pp. 261-261
Author(s):
Y. Liu
◽
Asan
◽
D. Ma
◽
F. Lv
◽
X. Xu
◽
...
Keyword(s):
Next Generation Sequencing
◽
Osteogenesis Imperfecta
◽
Gene Mutation
◽
Mutation Spectrum
◽
Next Generation
◽
Phenotype Correlation
◽
Targeted Next Generation Sequencing
◽
Genotype Phenotype Correlation
◽
Generation Sequencing
Download Full-text
GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss
PLoS ONE
◽
10.1371/journal.pone.0128691
◽
2015
◽
Vol 10
(6)
◽
pp. e0128691
◽
Cited By ~ 16
Author(s):
Jing Zheng
◽
Zhengbiao Ying
◽
Zhaoyang Cai
◽
Dongmei Sun
◽
Zheyun He
◽
...
Keyword(s):
Hearing Loss
◽
Han Chinese
◽
Mutation Spectrum
◽
Phenotype Correlation
◽
Gjb2 Mutation
◽
Genotype Phenotype Correlation
◽
Syndromic Hearing Loss
◽
Chinese Subjects
Download Full-text
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31
Brain
◽
10.1093/brain/awn026
◽
2008
◽
Vol 131
(4)
◽
pp. 1078-1086
◽
Cited By ~ 124
Author(s):
Christian Beetz
◽
Rebecca Schüle
◽
Tine Deconinck
◽
Khanh-Nhat Tran-Viet
◽
Hui Zhu
◽
...
Keyword(s):
Hereditary Spastic Paraplegia
◽
Mutation Spectrum
◽
Spastic Paraplegia
◽
Phenotype Correlation
◽
Genotype Phenotype Correlation
Download Full-text
Distal hereditary motor neuropathies: mutation spectrum and genotype‐phenotype correlation
European Journal of Neurology
◽
10.1111/ene.14700
◽
2020
◽
Author(s):
Marina Frasquet
◽
Ricard Rojas‐García
◽
Herminia Argente‐Escrig
◽
Juan Francisco Vázquez‐Costa
◽
Nuria Muelas
◽
...
Keyword(s):
Mutation Spectrum
◽
Phenotype Correlation
◽
Hereditary Motor
◽
Genotype Phenotype Correlation
Download Full-text
Mutation spectrum of phenylketonuria in Syrian population: Genotype–phenotype correlation
Gene
◽
10.1016/j.gene.2013.07.001
◽
2013
◽
Vol 528
(2)
◽
pp. 241-247
◽
Cited By ~ 10
Author(s):
Hossam Murad
◽
Amir Dabboul
◽
Faten Moassas
◽
Diana Alasmar
◽
Walid Al-achkar
Keyword(s):
Mutation Spectrum
◽
Phenotype Correlation
◽
Genotype Phenotype Correlation
◽
Syrian Population
Download Full-text
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy
Human Mutation
◽
10.1002/humu.22067
◽
2012
◽
Vol 33
(6)
◽
pp. 949-959
◽
Cited By ~ 76
Author(s):
Johann Böhm
◽
Valérie Biancalana
◽
Elizabeth T. DeChene
◽
Marc Bitoun
◽
Christopher R. Pierson
◽
...
Keyword(s):
Autosomal Dominant
◽
Mutation Spectrum
◽
Centronuclear Myopathy
◽
Phenotype Correlation
◽
Genotype Phenotype Correlation
◽
Dynamin 2
Download Full-text
Sign in / Sign up
Close
Export Citation Format
Close
Share Document
Close