Literature DB >> 31896778

CUGC for syndromic microphthalmia including next-generation sequencing-based approaches.

Jonathan Eintracht1, Marta Corton2, David FitzPatrick3, Mariya Moosajee4,5,6.   

Abstract

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Mesh：

Year:  2020        PMID： 31896778      PMCID： PMC7171178          DOI： 10.1038/s41431-019-0565-4

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  64 in total

Review 1.  Eye development genes and known syndromes.

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

2.  Microphthalmia, anophthalmia, and coloboma and associated ocular and systemic features: understanding the spectrum.

Authors:  Simon E Skalicky; Andrew J R White; John R Grigg; Frank Martin; Jeremy Smith; Michael Jones; Craig Donaldson; James E H Smith; Maree Flaherty; Robyn V Jamieson
Journal:  JAMA Ophthalmol       Date:  2013-12       Impact factor: 7.389

3.  A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency.

Authors:  Liat Ashkenazi-Hoffnung; Yael Lebenthal; Alexander W Wyatt; Nicola K Ragge; Sumito Dateki; Maki Fukami; Tsutomu Ogata; Moshe Phillip; Galia Gat-Yablonski
Journal:  Hum Genet       Date:  2010-04-16       Impact factor: 4.132

Review 4.  The genetics of anophthalmia and microphthalmia.

Authors:  Tanya M Bardakjian; Adele Schneider
Journal:  Curr Opin Ophthalmol       Date:  2011-09       Impact factor: 3.761

5.  OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters.

Authors:  Sumito Dateki; Maki Fukami; Naoko Sato; Kouji Muroya; Masanori Adachi; Tsutomu Ogata
Journal:  J Clin Endocrinol Metab       Date:  2008-07-15       Impact factor: 5.958

6.  Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2.

Authors:  O Patat; C M A van Ravenswaaij-Arts; J Tantau; N Corsten-Janssen; J P van Tintelen; T Dijkhuizen; J Kaplan; N Chassaing
Journal:  Mol Syndromol       Date:  2013-07-09

7.  Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.

Authors:  N Chassaing; A Causse; A Vigouroux; A Delahaye; J-L Alessandri; O Boespflug-Tanguy; O Boute-Benejean; H Dollfus; B Duban-Bedu; B Gilbert-Dussardier; F Giuliano; M Gonzales; M Holder-Espinasse; B Isidor; M-L Jacquemont; D Lacombe; D Martin-Coignard; M Mathieu-Dramard; S Odent; O Picone; L Pinson; C Quelin; S Sigaudy; A Toutain; C Thauvin-Robinet; Josseline Kaplan; Patrick Calvas
Journal:  Clin Genet       Date:  2013-10-07       Impact factor: 4.438

Review 8.  The genetic architecture of microphthalmia, anophthalmia and coloboma.

Authors:  Kathleen A Williamson; David R FitzPatrick
Journal:  Eur J Med Genet       Date:  2014-05-22       Impact factor: 2.708

9.  Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans.

Authors:  Daniel Kelberman; Karine Rizzoti; Ariel Avilion; Maria Bitner-Glindzicz; Stefano Cianfarani; Julie Collins; W Kling Chong; Jeremy M W Kirk; John C Achermann; Richard Ross; Danielle Carmignac; Robin Lovell-Badge; Iain C A F Robinson; Mehul T Dattani
Journal:  J Clin Invest       Date:  2006-08-24       Impact factor: 14.808

10.  Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.

Authors:  Kathleen A Williamson; Ann M Hever; Joe Rainger; R Curtis Rogers; Alex Magee; Zdenek Fiedler; Wee Teik Keng; Freddie H Sharkey; Niolette McGill; Clare J Hill; Adele Schneider; Mario Messina; Peter D Turnpenny; Judy A Fantes; Veronica van Heyningen; David R FitzPatrick
Journal:  Hum Mol Genet       Date:  2006-03-16       Impact factor: 6.150
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  2 in total

1.  Efficient embryoid-based method to improve generation of optic vesicles from human induced pluripotent stem cells.

Authors:  Jonathan Eintracht; Philippa Harding; Dulce Lima Cunha; Mariya Moosajee
Journal:  F1000Res       Date:  2022-03-17

2.  The Use of Induced Pluripotent Stem Cells as a Model for Developmental Eye Disorders.

Authors:  Jonathan Eintracht; Maria Toms; Mariya Moosajee
Journal:  Front Cell Neurosci       Date:  2020-08-20       Impact factor: 5.505
  2 in total

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