Related references
Note: Only part of the references are listed.Geographical Variability in CYP1B1 Mutations in Primary Congenital Glaucoma
Manali Shah et al.
JOURNAL OF CLINICAL MEDICINE (2022)
Meta-analysis of CYP1B1 gene mutations in primary congenital glaucoma patients
Amine Haddad et al.
EUROPEAN JOURNAL OF OPHTHALMOLOGY (2021)
VarSome: the human genomic variant search engine
Christos Kopanos et al.
BIOINFORMATICS (2019)
Mutational analysis of the CYP1B1 gene in Pakistani primary congenital glaucoma patients: Identification of four known and a novel causative variant at the 3′ splice acceptor site of intron 2
Rabia Afzal et al.
CONGENITAL ANOMALIES (2019)
In silico analysis of five missense mutations in CYP1B1 gene in Pakistani families affected with primary congenital glaucoma
Sabika Firasat et al.
INTERNATIONAL OPHTHALMOLOGY (2018)
Modifier variant of METTL13 suppresses human GAB1-associated profound deafness
Rizwan Yousaf et al.
JOURNAL OF CLINICAL INVESTIGATION (2018)
Visual field loss and vision-related quality of life in the Italian Primary Open Angle Glaucoma Study
Eliana Rulli et al.
SCIENTIFIC REPORTS (2018)
Angiopoietin receptor TEK interacts with CYP1B1 in primary congenital glaucoma
Meha Kabra et al.
HUMAN GENETICS (2017)
Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital Glaucoma
Leila Chouiter et al.
JOURNAL OF PEDIATRIC GENETICS (2017)
Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity
Tomokazu Souma et al.
JOURNAL OF CLINICAL INVESTIGATION (2016)
Identification of novel CYP1B1 gene mutations in patients with primary congenital and primary open-angle glaucoma
Shazia Micheal et al.
CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY (2015)
被撤回的出版物: World Medical Association Declaration of Helsinki Ethical Principles for Medical Research Involving Human Subjects (Retracted article. See vol. 135, pg. 2149, 2021)
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2013)
Predicting the Functional Effect of Amino Acid Substitutions and Indels
Yongwook Choi et al.
PLOS ONE (2012)
Overview of Cytochrome P450 1B1 gene mutations in patients with primary congenital glaucoma
Ni Li et al.
EXPERIMENTAL EYE RESEARCH (2011)
Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega
Fabian Sievers et al.
MOLECULAR SYSTEMS BIOLOGY (2011)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
NATURE METHODS (2010)
MutationTaster evaluates disease-causing potential of sequence alterations
Jana Marie Schwarz et al.
NATURE METHODS (2010)
Null Mutations in LTBP2 Cause Primary Congenital Glaucoma
Manir Ali et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
The Transcription Factor Gene FOXC1 Exhibits a Limited Role in Primary Congenital Glaucoma
Subhabrata Chakrabarti et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2009)
Role of CYP1B1 in glaucoma
Vasills Vasiliou et al.
ANNUAL REVIEW OF PHARMACOLOGY AND TOXICOLOGY (2008)
Improving sequence variant descriptions in mutation Databases and literature using the mutalyzer sequence variation nomenclature checker
Martin Wildeman et al.
HUMAN MUTATION (2008)
Disease-causing mutations in proteins: Structural analysis of the CYP1b1 mutations causing primary congenital glaucoma in humans
Malkaram S. Achary et al.
BIOPHYSICAL JOURNAL (2006)
Prediction of protein stability changes for single-site mutations using support vector machines
JL Cheng et al.
PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS (2006)
HaploPainter:: a tool for drawing pedigrees with complex haplotypes
H Thiele et al.
BIOINFORMATICS (2005)
Myocilin gene implicated in primary congenital glaucoma
K Kaur et al.
CLINICAL GENETICS (2005)
WebLogo: A sequence logo generator
GE Crooks et al.
GENOME RESEARCH (2004)
SIFT: predicting amino acid changes that affect protein function
PC Ng et al.
NUCLEIC ACIDS RESEARCH (2003)
Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus
BA Bejjani et al.
HUMAN MOLECULAR GENETICS (2000)
Share Paper
