Literature DB >> 5444583

Frontonasal dysplasia.

H O Sedano, M M Cohen, J Jirasek, R J Gorlin.   

Abstract

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Mesh：

Year:  1970        PMID： 5444583     DOI： 10.1016/s0022-3476(70)80374-2

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  35 in total

1.  Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia.

Authors:  Elif Uz; Yasemin Alanay; Dilek Aktas; Ibrahim Vargel; Safak Gucer; Gokhan Tuncbilek; Ferdinand von Eggeling; Engin Yilmaz; Ozgur Deren; Nicole Posorski; Hilal Ozdag; Thomas Liehr; Sevim Balci; Mehmet Alikasifoglu; Bernd Wollnik; Nurten A Akarsu
Journal:  Am J Hum Genet       Date:  2010-05-06       Impact factor: 11.025

2.  Aristaless-Like Homeobox protein 1 (ALX1) variant associated with craniofacial structure and frontonasal dysplasia in Burmese cats.

Authors:  Leslie A Lyons; Carolyn A Erdman; Robert A Grahn; Michael J Hamilton; Michael J Carter; Christopher R Helps; Hasan Alhaddad; Barbara Gandolfi
Journal:  Dev Biol       Date:  2015-12-02       Impact factor: 3.582

3.  [Morning glory disc anomaly und frontonasal dysplasia].

Authors:  E Papageorgiou; U Schiefer; M Warmuth-Metz; P Weckerle
Journal:  Ophthalmologe       Date:  2007-08       Impact factor: 1.059

4.  Misexpression of Six2 is associated with heritable frontonasal dysplasia and renal hypoplasia in 3H1 Br mice.

Authors:  Ben Fogelgren; Mari C Kuroyama; Brandeis McBratney-Owen; Allyson A Spence; Laura E Malahn; Mireille K Anawati; Chantelle Cabatbat; Vernadeth B Alarcon; Yusuke Marikawa; Scott Lozanoff
Journal:  Dev Dyn       Date:  2008-07       Impact factor: 3.780

Review 5.  Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology.

Authors:  Peter G Farlie; Naomi L Baker; Patrick Yap; Tiong Y Tan
Journal:  Mol Syndromol       Date:  2016-10-29

6.  Frontonasal dysplasia with severe occipital lobe hypoplasia.

Authors:  Sunita Vegesna; Lakshmiprasanna Gutthi; Pundarikaksha Varanasi; T P Gandhi
Journal:  Indian J Pediatr       Date:  2014-04-24       Impact factor: 1.967

7.  Exome sequencing revealed a novel nonsense variant in ALX3 gene underlying frontorhiny.

Authors:  Asmat Ullah; Muhammad Umair; Umm E-Kalsoom; Shaheen Shahzad; Sulman Basit; Wasim Ahmad
Journal:  J Hum Genet       Date:  2017-11-16       Impact factor: 3.172

8.  Midline craniofacial malformations with a lipomatous cephalocele are associated with insufficient closure of the neural tube in the tuft mouse.

Authors:  Keith S K Fong; Dana A T Adachi; Shaun B Chang; Scott Lozanoff
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2014-06-13

9.  Fronto-nasal dysplasia and lipoma of the corpus callosum.

Authors:  I Pascual-Castroviejo; S I Pascual-Pascual; A Pérez-Higueras
Journal:  Eur J Pediatr       Date:  1985-05       Impact factor: 3.183

10.  Median cleft face syndrome in association with hydrocephalus, agenesis of the corpus callosum, holoprosencephaly and choanal atresia.

Authors:  T Bömelburg; W Lenz; T Eusterbrock
Journal:  Eur J Pediatr       Date:  1987-05       Impact factor: 3.183
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