Literature DB >> 9125347

Congenital eye malformations: a descriptive epidemiologic study in about one million newborns in Italy.

M Clementi1, R Tenconi, F Bianchi, L Botto, A Calabro, E Calzolari, D Cianciulli, I Mammi, P Mastroiacovo, P Meli, A Spagnolo, L Turolla, S Volpato.   

Abstract

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Year:  1996        PMID： 9125347

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN： 0547-6844


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  6 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.  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

3.  Whole-genome copy number variation analysis in anophthalmia and microphthalmia.

Authors:  K F Schilter; L M Reis; A Schneider; T M Bardakjian; O Abdul-Rahman; B A Kozel; H H Zimmerman; U Broeckel; E V Semina
Journal:  Clin Genet       Date:  2013-06-17       Impact factor: 4.438

4.  Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.

Authors:  Adele Schneider; Tanya Bardakjian; Linda M Reis; Rebecca C Tyler; Elena V Semina
Journal:  Am J Med Genet A       Date:  2009-12       Impact factor: 2.802

5.  Distinguishing risk factors between congenital anophthalmia and microphthalmia using multivariable logistic regression.

Authors:  Yang Li; Zhijia Hou; Jingwen Ding; Ying Cui; Bixuan Qin; Dongmei Li
Journal:  Ann Transl Med       Date:  2020-06

6.  Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes.

Authors:  Tanya M Bardakjian; Adele S Schneider; David Ng; Jennifer J Johnston; Leslie G Biesecker
Journal:  BMC Med Genet       Date:  2009-12-16       Impact factor: 2.103
  6 in total

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