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Literature DB >> 5387411

Familial occurrence of congenital retinal blindness and developmental renal lesions.

A S Dekaban.

Abstract

Entities: Disease

Mesh：

Year: 1969 PMID： 5387411

Source DB: PubMed Journal: J Genet Hum ISSN： 0021-7743

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6 in total

1. Neurological abnormalities in congenital amaurosis of Leber. Review of 30 cases.

Authors: M J Vaizey; M D Sanders; K C Wybar; J Wilson
Journal: Arch Dis Child Date: 1977-05 Impact factor: 3.791

2. Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye.

Authors: Katie Weihbrecht; Wesley A Goar; Thomas Pak; Janelle E Garrison; Adam P DeLuca; Edwin M Stone; Todd E Scheetz; Val C Sheffield
Journal: Med Res Arch Date: 2017-09-18

3. Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity.

Authors: Erica R Eichers; Muhammad M Abd-El-Barr; Richard Paylor; Richard Alan Lewis; Weimin Bi; Xiaodi Lin; Thomas P Meehan; David W Stockton; Samuel M Wu; Elizabeth Lindsay; Monica J Justice; Philip L Beales; Nicholas Katsanis; James R Lupski
Journal: Hum Genet Date: 2006-06-23 Impact factor: 4.132

4. Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.

Authors: Brian P Brooks; Wadih M Zein; Amy H Thompson; Maryam Mokhtarzadeh; Daniel A Doherty; Melissa Parisi; Ian A Glass; May C Malicdan; Thierry Vilboux; Meghana Vemulapalli; James C Mullikin; William A Gahl; Meral Gunay-Aygun
Journal: Ophthalmology Date: 2018-07-25 Impact factor: 12.079

5. Electroretinographic Assessment in Joubert Syndrome: A Suggested Objective Method to Evaluate the Effectiveness of Future Targeted Treatment.

Authors: Giulio Ruberto; Vincenzo Parisi; Chiara Bertone; Sabrina Signorini; Mauro Antonini; Enza Maria Valente; Federica Manzoni; Valentina Serpieri; Riccardo Fausto; Luciano Quaranta
Journal: Adv Ther Date: 2020-07-15 Impact factor: 3.845

6. Visual Evoked Potentials in Joubert Syndrome: A Suggested Useful Method for Evaluating Future Approaches Targeted to Improve Visual Pathways' Function.

6 in total