Literature DB >> 5936364

Chorioretinopathy with hereditary microcephaly.

V A McKusick, M Stauffer, D L Knox, D B Clark.   

Abstract

Entities:  

Mesh：

Year:  1966        PMID： 5936364     DOI： 10.1001/archopht.1966.00970050599003

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN： 0003-9950


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  10 in total

1.  Autosomal recessive microcephaly associated with chorioretinopathy.

Authors:  J M Cantú; J A Rojas; D García-Cruz; A Hernández; P Pagán; R Fragoso; C Manzano
Journal:  Hum Genet       Date:  1977-04-15       Impact factor: 4.132

2.  Syndrome of pigmentary retinal degeneration, cataract, microcephaly, and severe mental retardation.

Authors:  S A Mirhosseini; L B Holmes; D S Walton
Journal:  J Med Genet       Date:  1972-06       Impact factor: 6.318

3.  Genetical aspects of severe visual impairment in childhood.

Authors:  G R Fraser
Journal:  J Med Genet       Date:  1970-09       Impact factor: 6.318

4.  Zika virus infects cells lining the blood-retinal barrier and causes chorioretinal atrophy in mouse eyes.

Authors:  Pawan Kumar Singh; John-Michael Guest; Mamta Kanwar; Joseph Boss; Nan Gao; Mark S Juzych; Gary W Abrams; Fu-Shin Yu; Ashok Kumar
Journal:  JCI Insight       Date:  2017-02-23

Review 5.  Genetics of microphthalmos.

Authors:  M Warburg
Journal:  Int Ophthalmol       Date:  1981-08       Impact factor: 2.031

6.  Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.

Authors:  Sophie Scheidecker; Christelle Etard; Laurence Haren; Corinne Stoetzel; Sarah Hull; Gavin Arno; Vincent Plagnol; Séverine Drunat; Sandrine Passemard; Annick Toutain; Cathy Obringer; Mériam Koob; Véronique Geoffroy; Vincent Marion; Uwe Strähle; Pia Ostergaard; Alain Verloes; Andreas Merdes; Anthony T Moore; Hélène Dollfus
Journal:  Am J Hum Genet       Date:  2015-03-26       Impact factor: 11.025

7.  Genetic mapping and exome sequencing identify variants associated with five novel diseases.

Authors:  Erik G Puffenberger; Robert N Jinks; Carrie Sougnez; Kristian Cibulskis; Rebecca A Willert; Nathan P Achilly; Ryan P Cassidy; Christopher J Fiorentini; Kory F Heiken; Johnny J Lawrence; Molly H Mahoney; Christopher J Miller; Devika T Nair; Kristin A Politi; Kimberly N Worcester; Roni A Setton; Rosa Dipiazza; Eric A Sherman; James T Eastman; Christopher Francklyn; Susan Robey-Bond; Nicholas L Rider; Stacey Gabriel; D Holmes Morton; Kevin A Strauss
Journal:  PLoS One       Date:  2012-01-17       Impact factor: 3.240

8.  No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.

Authors:  Matthieu J Schlögel; Antonella Mendola; Elodie Fastré; Pradeep Vasudevan; Koen Devriendt; Thomy J L de Ravel; Hilde Van Esch; Ingele Casteels; Ignacio Arroyo Carrera; Francesca Cristofoli; Karen Fieggen; Katheryn Jones; Mark Lipson; Irina Balikova; Ami Singer; Maria Soller; María Mercedes Villanueva; Nicole Revencu; Laurence M Boon; Pascal Brouillard; Miikka Vikkula
Journal:  Orphanet J Rare Dis       Date:  2015-05-02       Impact factor: 4.123

9.  Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy.

Authors:  Maria F Shurygina; Joseph M Simonett; Maria A Parker; Amanda Mitchell; Florin Grigorian; Jacob Lifton; Aaron Nagiel; Alexander A Shpak; Elena L Dadali; Irina A Mishina; Richard G Weleber; Paul Yang; Mark E Pennesi
Journal:  Invest Ophthalmol Vis Sci       Date:  2020-11-02       Impact factor: 4.799

10.  Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.

Authors:  Gabriela E Jones; Pia Ostergaard; Anthony T Moore; Fiona C Connell; Denise Williams; Oliver Quarrell; Angela F Brady; Isabel Spier; Filiz Hazan; Oana Moldovan; Dagmar Wieczorek; Barbara Mikat; Florence Petit; Christine Coubes; Robert A Saul; Glen Brice; Kristiana Gordon; Steve Jeffery; Peter S Mortimer; Pradeep C Vasudevan; Sahar Mansour
Journal:  Eur J Hum Genet       Date:  2013-11-27       Impact factor: 4.246
  10 in total

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