Literature DB >> 8268931

Characterization of a mutation within the NDP gene in a family with a manifesting female carrier.

Z Y Chen1, E M Battinelli, G Woodruff, I Young, X O Breakefield, I W Craig.   

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Year:  1993        PMID： 8268931     DOI： 10.1093/hmg/2.10.1727

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  6 in total

1.  Retinopathy of prematurity in infants of birth weight > 2000 g after haemorrhagic shock at birth.

Authors:  C Jandeck; U Kellner; H Kössel; M Bartsch; H T Versmold; M H Foerster
Journal:  Br J Ophthalmol       Date:  1996-08       Impact factor: 4.638

Review 2.  Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous.

Authors:  P J Rosenfeld; V A McKusick; J S Amberger; T P Dryja
Journal:  J Med Genet       Date:  1994-12       Impact factor: 6.318

3.  Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.

Authors:  Konstantinos Nikopoulos; Christian Gilissen; Alexander Hoischen; C Erik van Nouhuys; F Nienke Boonstra; Ellen A W Blokland; Peer Arts; Nienke Wieskamp; Tim M Strom; Carmen Ayuso; Mauk A D Tilanus; Sanne Bouwhuis; Arijit Mukhopadhyay; Hans Scheffer; Lies H Hoefsloot; Joris A Veltman; Frans P M Cremers; Rob W J Collin
Journal:  Am J Hum Genet       Date:  2010-02-12       Impact factor: 11.025

Review 4.  Familial exudative vitreoretinopathy and related retinopathies.

Authors:  D F Gilmour
Journal:  Eye (Lond)       Date:  2014-10-17       Impact factor: 3.775

5.  Characterization and mapping of the mouse NDP (Norrie disease) locus (Ndp).

Authors:  E M Battinelli; Y Boyd; I W Craig; X O Breakefield; Z Y Chen
Journal:  Mamm Genome       Date:  1996-02       Impact factor: 2.957

6.  Mutation spectrum of the Norrie disease pseudoglioma (NDP) gene in Indian patients with FEVR.

Authors:  Ganeswara Rao Musada; Subhadra Jalali; Anjli Hussain; Anupama Reddy Chururu; Pramod Reddy Gaddam; Subhabrata Chakrabarti; Inderjeet Kaur
Journal:  Mol Vis       Date:  2016-05-16       Impact factor: 2.367
  6 in total

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