Genotype-phenotype Correlation Study in a Large Series of Patients Carrying the p.Pro51Ser (p.P51S) Variant in COCH (DFNA9)

Genotype-Phenotype Correlation Study in a Large Series of Patients Carrying the p.Pro51Ser (p.P51S) Variant in COCH (DFNA9) Part II

Ear and Hearing ◽

10.1097/aud.0000000000001070 ◽

2021 ◽

Vol Publish Ahead of Print ◽

Author(s):

Sebastien P. F. JanssensdeVarebeke ◽

Julie Moyaert ◽

Erik Fransen ◽

Britt Bulen ◽

Celine Neesen ◽

...

Keyword(s):

Correlation Study ◽

Large Series ◽

Phenotype Correlation ◽

Symmetry of folds in FEVR: A genotype-phenotype correlation study

Experimental Eye Research ◽

10.1016/j.exer.2019.107720 ◽

2019 ◽

Vol 186 ◽

pp. 107720

Author(s):

Zhirong Wang ◽

Chonglin Chen ◽

Limei Sun ◽

Aiyuan Zhang ◽

Chengxi Liu ◽

...

Keyword(s):

Correlation Study ◽

Phenotype Correlation ◽

Loss of succinate dehydrogenase subunit B (SDHB) expression is limited to a distinctive subset of gastric wild-type gastrointestinal stromal tumours: a comprehensive genotype-phenotype correlation study

Histopathology ◽

10.1111/j.1365-2559.2012.04300.x ◽

2012 ◽

Vol 61 (5) ◽

pp. 801-809 ◽

Cited By ~ 66

Author(s):

Leona A Doyle ◽

Dylan Nelson ◽

Michael C Heinrich ◽

Christopher L Corless ◽

Jason L Hornick

Keyword(s):

Succinate Dehydrogenase ◽

Correlation Study ◽

Wild Type ◽

Gastrointestinal Stromal Tumours ◽

Phenotype Correlation ◽

Succinate Dehydrogenase Subunit B ◽

Subunit B

Involvement of MRE11A and XPA gene polymorphisms in the modulation of DNA double-strand break repair activity: A genotype–phenotype correlation study

DNA Repair ◽

10.1016/j.dnarep.2011.08.003 ◽

2011 ◽

Vol 10 (10) ◽

pp. 1044-1050 ◽

Cited By ~ 12

Author(s):

Fulvio Ricceri ◽

Paola Porcedda ◽

Alessandra Allione ◽

Valentina Turinetto ◽

Silvia Polidoro ◽

...

Keyword(s):

Gene Polymorphisms ◽

Strand Break ◽

Correlation Study ◽

Double Strand Break ◽

Double Strand Break Repair ◽

Phenotype Correlation ◽

Dna Double Strand Break ◽

Repair Activity ◽

Break Repair

Loss of succinate dehydrogenase subunit B (SDHB) expression is limited to a distinctive subset of gastric wild-type gastrointestinal stromal tumours: a comprehensive genotype–phenotype correlation study

Yearbook of Pathology and Laboratory Medicine ◽

10.1016/j.ypat.2012.10.009 ◽

2013 ◽

Vol 2013 ◽

pp. 143-144

Author(s):

S.S. Raab

Keyword(s):

Succinate Dehydrogenase ◽

Correlation Study ◽

Wild Type ◽

Gastrointestinal Stromal Tumours ◽

Phenotype Correlation ◽

Succinate Dehydrogenase Subunit B ◽

Subunit B

Genetic variants of the APE1 gene and the risk of vitiligo in a Chinese population: A genotype–phenotype correlation study

Free Radical Biology and Medicine ◽

10.1016/j.freeradbiomed.2013.01.009 ◽

2013 ◽

Vol 58 ◽

pp. 64-72 ◽

Cited By ~ 8

Author(s):

Chao Wei ◽

Zhe Jian ◽

Lin Wang ◽

Huini Qiang ◽

Qiong Shi ◽

...

Keyword(s):

Genetic Variants ◽

Chinese Population ◽

Correlation Study ◽

Phenotype Correlation ◽

A genotype-phenotype correlation study reveals that a non-coding RNA might be associated with cardiovascular anomalies in fetuses with WHS

Prenatal Diagnosis ◽

10.1002/pd.4884 ◽

2016 ◽

Vol 36 (10) ◽

pp. 979-981 ◽

Cited By ~ 1

Author(s):

Yi Wu ◽

Jiong Tao ◽

Yan-Lin Wang ◽

Wen-Jing Hu ◽

Xu Han ◽

...

Keyword(s):

Correlation Study ◽

Phenotype Correlation ◽

Non Coding Rna ◽

Cardiovascular Anomalies

Genotype-Phenotype Correlation Study in 529 Patients with Multiple Hereditary Exostoses: Identification of “Protective” and “Risk” Factors

The Journal of Bone and Joint Surgery (American) ◽

10.2106/jbjs.j.00949 ◽

2011 ◽

Vol 93 (24) ◽

pp. 2294-2302 ◽

Cited By ~ 68

Author(s):

Elena Pedrini ◽

Ivy Jennes ◽

Morena Tremosini ◽

Annamaria Milanesi ◽

Marina Mordenti ◽

...

Keyword(s):

Risk Factors ◽

Correlation Study ◽

Phenotype Correlation ◽

Multiple Hereditary Exostoses ◽

Genotype–phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21‐hydroxylase deficiency

Molecular Genetics & Genomic Medicine ◽

10.1002/mgg3.671 ◽

2019 ◽

Vol 7 (6) ◽

Cited By ~ 1

Author(s):

Chao Xu ◽

Wenyu Jia ◽

Xiangdeng Cheng ◽

Hui Ying ◽

Jing Chen ◽

...

Keyword(s):

Correlation Study ◽

Phenotype Correlation ◽

Hydroxylase Deficiency ◽

Chinese Cohort ◽

21 Hydroxylase Deficiency ◽

Hormonal Analysis

Genotype-Phenotype Correlation Study in 529 Patients with Multiple Hereditary Exostoses: Identification of “Protective” and “Risk” Factors

Yearbook of Orthopedics ◽

10.1016/j.yort.2012.04.001 ◽

2012 ◽

Vol 2012 ◽

pp. 371-372

Author(s):

P.S. Rose

Keyword(s):

Risk Factors ◽

Correlation Study ◽

Phenotype Correlation ◽

Multiple Hereditary Exostoses ◽