Literature DB >> 4872990

Brittle cornea. A familial trait associated with blue sclera.

R Stein, M Lazar, A Adam.   

Abstract

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Mesh：

Year:  1968        PMID： 4872990

Source DB:  PubMed          Journal:  Am J Ophthalmol        ISSN： 0002-9394            Impact factor:   5.258


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  16 in total

1.  Brittle cornea syndrome: an heritable connective tissue disorder distinct from Ehlers-Danlos syndrome type VI and fragilitas oculi, with spontaneous perforations of the eye, blue sclerae, red hair, and normal collagen lysyl hydroxylation.

Authors:  P M Royce; B Steinmann; A Vogel; U Steinhorst; A Kohlschuetter
Journal:  Eur J Pediatr       Date:  1990-04       Impact factor: 3.183

2.  Blue sclerae with keratoglobus and brittle cornea.

Authors:  N D Gregoratos; C S Bartsocas; K Papas
Journal:  Br J Ophthalmol       Date:  1971-06       Impact factor: 4.638

3.  Blue sclerae and keratoglobus. Ocular signs of a systemic connective tissue disorder.

Authors:  S W Hyams; H Kar; E Neumann
Journal:  Br J Ophthalmol       Date:  1969-01       Impact factor: 4.638

4.  [Syndrome of blue sclerae and keratoglobus (ocular type of Ehlers-Danlos syndrome (author's transl)].

Authors:  W Behrens-Baumann; H J Gebauer; U Langenbeck
Journal:  Albrecht Von Graefes Arch Klin Exp Ophthalmol       Date:  1977-12-31

5.  Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome.

Authors:  Almogit Abu; Moshe Frydman; Dina Marek; Eran Pras; Uri Nir; Haike Reznik-Wolf; Elon Pras
Journal:  Am J Hum Genet       Date:  2008-05-01       Impact factor: 11.025

6.  Brittle cornea, blue sclera, and red hair syndrome (the brittle cornea syndrome).

Authors:  U Ticho; M Ivry; S Merin
Journal:  Br J Ophthalmol       Date:  1980-03       Impact factor: 4.638

7.  [Brittle cornea syndrome type 1 caused by compound heterozygosity of two mutations in the ZNF469 gene].

Authors:  Johannes Menzel-Severing; Ralph Meiller; Cornelia Kraus; Regina Trollmann; Deniz Atalay
Journal:  Ophthalmologe       Date:  2019-08       Impact factor: 1.059

8.  A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome.

Authors:  Louise F Porter; Giorgio G Galli; Sally Williamson; Julian Selley; David Knight; Nursel Elcioglu; Ali Aydin; Mustafa Elcioglu; Hanka Venselaar; Anders H Lund; Richard Bonshek; Graeme C Black; Forbes D Manson
Journal:  Hum Mol Genet       Date:  2015-09-22       Impact factor: 6.150

Review 9.  Brittle cornea syndrome: recognition, molecular diagnosis and management.

Authors:  Emma M M Burkitt Wright; Louise F Porter; Helen L Spencer; Jill Clayton-Smith; Leon Au; Francis L Munier; Sarah Smithson; Mohnish Suri; Marianne Rohrbach; Forbes D C Manson; Graeme C M Black
Journal:  Orphanet J Rare Dis       Date:  2013-05-04       Impact factor: 4.123

10.  ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.

Authors:  Marianne Rohrbach; Helen L Spencer; Louise F Porter; Emma M M Burkitt-Wright; Céline Bürer; Andreas Janecke; Madhura Bakshi; David Sillence; Hailah Al-Hussain; Matthias Baumgartner; Beat Steinmann; Graeme C M Black; Forbes D C Manson; Cecilia Giunta
Journal:  Mol Genet Metab       Date:  2013-04-26       Impact factor: 4.797
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