Literature DB >> 5362879

Hereditary syndrome of congenital retinal blindness (Leber), polycystic kidneys and maldevelopment of the brain.

A S Dekaban.   

Abstract

Entities:  

Mesh：

Year:  1969        PMID： 5362879     DOI： 10.1016/0002-9394(69)93443-6

Source DB:  PubMed          Journal:  Am J Ophthalmol        ISSN： 0002-9394            Impact factor:   5.258


× No keyword cloud information.
  19 in total

Review 1.  Joubert Syndrome and related disorders.

Authors:  Francesco Brancati; Bruno Dallapiccola; Enza Maria Valente
Journal:  Orphanet J Rare Dis       Date:  2010-07-08       Impact factor: 4.123

2.  A novel locus for Leber congenital amaurosis maps to chromosome 6q.

Authors:  S Dharmaraj; Y Li; J M Robitaille; E Silva; D Zhu; T N Mitchell; L P Maltby; A B Baffoe-Bonnie; I H Maumenee
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

Review 3.  Clinical and molecular features of Joubert syndrome and related disorders.

Authors:  Melissa A Parisi
Journal:  Am J Med Genet C Semin Med Genet       Date:  2009-11-15       Impact factor: 3.908

4.  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

5.  Vermian agenesis without posterior fossa cyst.

Authors:  C Adamsbaum; V Moreau; C Bulteau; J Burstyn; F Lair Milan; G Kalifa
Journal:  Pediatr Radiol       Date:  1994

6.  Senior-Løken syndrome with marbelized fundus and unusual skeletal abnormalities. A case report.

Authors:  B Lauweryns; A Leys; E Van Haesendonck; L Missotten
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1993-04       Impact factor: 3.117

7.  Defect of cerebellar Purkinje cell histogenesis associated with type I and type II renal cystic disease.

Authors:  S Kornguth; L Knobeloch; C Viseskul; E Gilbert; J Opitz
Journal:  Acta Neuropathol       Date:  1977-09-26       Impact factor: 17.088

8.  Joubert syndrome: a clinico-radiological study.

Authors:  B Kendall; D Kingsley; S R Lambert; D Taylor; P Finn
Journal:  Neuroradiology       Date:  1990       Impact factor: 2.804

9.  A syndrome of congenital retinal dystrophy and saccade palsy--a subset of Leber's amaurosis.

Authors:  A T Moore; D S Taylor
Journal:  Br J Ophthalmol       Date:  1984-06       Impact factor: 4.638

10.  The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.

Authors:  Melissa A Parisi; Craig L Bennett; Melissa L Eckert; William B Dobyns; Joseph G Gleeson; Dennis W W Shaw; Ruth McDonald; Allison Eddy; Phillip F Chance; Ian A Glass
Journal:  Am J Hum Genet       Date:  2004-05-11       Impact factor: 11.025
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.