Literature DB >> 11403040

Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly.

A Vincent, G Billingsley, M Priston, D Williams-Lyn, J Sutherland, T Glaser, E Oliver, M A Walter, G Heathcote, A Levin, E Héon.   

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Year:  2001        PMID： 11403040      PMCID： PMC1734880          DOI： 10.1136/jmg.38.5.324

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  27 in total

1.  A case of 22q11.2 deletion syndrome with Peters anomaly, congenital glaucoma, and heterozygous mutation in CYP1B1.

Authors:  Linda M Reis; Rebecca C Tyler; Roberto Zori; Jennifer Burgess; Jennifer Mueller; Elena V Semina
Journal:  Ophthalmic Genet       Date:  2013-09-11       Impact factor: 1.803

Review 2.  Glaucoma genetics.

Authors:  Pratap Challa
Journal:  Int Ophthalmol Clin       Date:  2008

3.  Mutation spectrum of the CYP1B1 gene for congenital glaucoma in the Japanese population.

Authors:  Nobuo Fuse; Akiko Miyazawa; Kana Takahashi; Michiru Noro; Toru Nakazawa; Kohji Nishida
Journal:  Jpn J Ophthalmol       Date:  2010-02-12       Impact factor: 2.447

Review 4.  Genetics of anterior segment dysgenesis disorders.

Authors:  Linda M Reis; Elena V Semina
Journal:  Curr Opin Ophthalmol       Date:  2011-09       Impact factor: 3.761

Review 5.  Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital Glaucoma.

Authors:  Leila Chouiter; Sellama Nadifi
Journal:  J Pediatr Genet       Date:  2017-04-21

6.  Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.

Authors:  Ivan Prokudin; Cas Simons; John R Grigg; Rebecca Storen; Vikrant Kumar; Zai Y Phua; James Smith; Maree Flaherty; Sonia Davila; Robyn V Jamieson
Journal:  Eur J Hum Genet       Date:  2013-11-27       Impact factor: 4.246

7.  Phenotypic characterisation and ZEB1 mutational analysis in posterior polymorphous corneal dystrophy in a New Zealand population.

Authors:  Andrea L Vincent; Rachael L Niederer; Amanda Richards; Betina Karolyi; Dipika V Patel; Charles N J McGhee
Journal:  Mol Vis       Date:  2009-12-03       Impact factor: 2.367

8.  Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1.

Authors:  Latifa Hilal; Soraya Boutayeb; Aziza Serrou; Loubna Refass-Buret; Hafsa Shisseh; Fatiha Bencherifa; Mohammed El Mzibri; Bouchra Benazzouz; Amina Berraho
Journal:  Mol Vis       Date:  2010-07-02       Impact factor: 2.367

9.  Axenfeld-Rieger Syndrome Associated with Congenital Glaucoma and Cytochrome P4501B1 Gene Mutations.

Authors:  Mukesh Tanwar; Tanuj Dada; Rima Dada
Journal:  Case Rep Med       Date:  2010-08-09

10.  Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.

Authors:  Anouk Dansault; Gabriel David; Claire Schwartz; Carolina Jaliffa; Véronique Vieira; Guillaume de la Houssaye; Karine Bigot; Françise Catin; Laurent Tattu; Catherine Chopin; Philippe Halimi; Olivier Roche; Nicole Van Regemorter; Francis Munier; Daniel Schorderet; Jean-Louis Dufier; Cécile Marsac; Daniel Ricquier; Maurice Menasche; Alfred Penfornis; Marc Abitbol
Journal:  Mol Vis       Date:  2007-04-02       Impact factor: 2.367
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