Literature DB >> 20425842

Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies.

Preeti Bakrania1, Sibel A Ugur Iseri, Alexander W Wyatt, Dave J Bunyan, Wayne W K Lam, Alison Salt, Jacqueline Ramsay, David O Robinson, Nicola K Ragge.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2010        PMID： 20425842     DOI： 10.1002/ajmg.a.33239

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


× No keyword cloud information.
  18 in total

1.  Patients within the Broad Holoprosencephaly Spectrum have Distinct and Subtle Ophthalmologic Anomalies: Response to Khan.

Authors:  Daniel E Pineda-Alvarez; Benjamin D Solomon; Erich Roessler; Joan Z Balog; Donald W Hadley; Wadih M Zein; Brian P Brooks; Maximilian Muenke
Journal:  Am J Med Genet A       Date:  2012-02-07       Impact factor: 2.802

Review 2.  Eye development genes and known syndromes.

Authors:  Anne M Slavotinek
Journal:  Mol Genet Metab       Date:  2011-09-29       Impact factor: 4.797

3.  Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches.

Authors:  Rose Richardson; Jane Sowden; Christina Gerth-Kahlert; Anthony T Moore; Mariya Moosajee
Journal:  Eur J Hum Genet       Date:  2017-01-18       Impact factor: 4.246

4.  A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.

Authors:  Daniel E Pineda-Alvarez; Benjamin D Solomon; Erich Roessler; Joan Z Balog; Donald W Hadley; Wadih M Zein; Casey K Hadsall; Brian P Brooks; Maximilian Muenke
Journal:  Am J Med Genet A       Date:  2011-10-04       Impact factor: 2.802

Review 5.  Hedgehog signaling: networking to nurture a promalignant tumor microenvironment.

Authors:  Lillianne G Harris; Rajeev S Samant; Lalita A Shevde
Journal:  Mol Cancer Res       Date:  2011-07-20       Impact factor: 5.852

6.  Sonic Hedgehog Intron Variant Associated With an Unusual Pediatric Cortical Cataract.

Authors:  Terri L Young; Kristina N Whisenhunt; Sarah M LaMartina; Alex W Hewitt; David A Mackey; Stuart W Tompson
Journal:  Invest Ophthalmol Vis Sci       Date:  2022-06-01       Impact factor: 4.925

Review 7.  Eye development and retinogenesis.

Authors:  Whitney Heavner; Larysa Pevny
Journal:  Cold Spring Harb Perspect Biol       Date:  2012-12-01       Impact factor: 10.005

Review 8.  Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia.

Authors:  Anne Slavotinek
Journal:  Hum Genet       Date:  2018-10-30       Impact factor: 4.132

9.  Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders.

Authors:  R Holt; S A Ugur Iseri; A W Wyatt; D A Bax; D Gold Diaz; C Santos; S Broadgate; R Dunn; J Bruty; Y Wallis; D McMullan; C Ogilvie; D Gerrelli; Y Zhang; Nicola Ragge
Journal:  Hum Genet       Date:  2016-11-14       Impact factor: 4.132

10.  Phenotypic variability of a terminal 7q deletion/8q duplication in Korean siblings.

Authors:  Yoojin Kwun; Eul Ju Seo; Han Wook Yoo; Byong Sop Lee; Ki Soo Kim; Ellen Ai Rhan Kim
Journal:  Ann Lab Med       Date:  2015-09       Impact factor: 3.464
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.