Literature DB >> 4805907

Megalocornea associated with multiple skeletal anomalies: a new genetic syndrome?

Y Frank, M Ziprkowski, A Romano, R Stein, M B Katznelson, B Cohen, R M Goodman.   

Abstract

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Mesh：

Year:  1973        PMID： 4805907

Source DB:  PubMed          Journal:  J Genet Hum        ISSN： 0021-7743


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  14 in total

1.  Anterior segment dysgenesis and early-onset glaucoma in nee mice with mutation of Sh3pxd2b.

Authors:  Mao Mao; Adam Hedberg-Buenz; Demelza Koehn; Simon W M John; Michael G Anderson
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-04-01       Impact factor: 4.799

2.  A corneal abnormality associated with trisomy 8 mosaicism syndrome.

Authors:  D J Stark; D W Gilmore; J C Vance; J H Pearn
Journal:  Br J Ophthalmol       Date:  1987-01       Impact factor: 4.638

3.  Megalocornea. Clinical and genetic aspects.

Authors:  F M Meire
Journal:  Doc Ophthalmol       Date:  1994       Impact factor: 2.379

4.  Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome.

Authors:  Zafar Iqbal; Pilar Cejudo-Martin; Arjan de Brouwer; Bert van der Zwaag; Pilar Ruiz-Lozano; M Cecilia Scimia; James D Lindsey; Robert Weinreb; Beate Albrecht; Andre Megarbane; Yasemin Alanay; Ziva Ben-Neriah; Mariangela Amenduni; Rosangela Artuso; Joris A Veltman; Ellen van Beusekom; Astrid Oudakker; José Luis Millán; Raoul Hennekam; Ben Hamel; Sara A Courtneidge; Hans van Bokhoven
Journal:  Am J Hum Genet       Date:  2010-02-04       Impact factor: 11.025

5.  Syndrome of mental retardation, seizures, hypotonic cerebral palsy and megalocorneae, recessively inherited.

Authors:  G Neuhäuser; E G Kaveggia; T D France; J M Opitz
Journal:  Z Kinderheilkd       Date:  1975-07-01

6.  Congenital glaucoma as an ophthalmic manifestation of Frank-Ter Haar syndrome.

Authors:  Zeynep Aktas; Emine Esra Karaca; Nurcan Dogan; Tugba Çakmak; Metin Unlu; Levent Tok; Murat Hasanreisoglu
Journal:  Int Ophthalmol       Date:  2013-05-25       Impact factor: 2.031

7.  Common dental features and craniofacial development of three siblings with Ter Haar syndrome.

Authors:  K Parker; R Pabla; N Hay; P Ayliffe
Journal:  Eur Arch Paediatr Dent       Date:  2013-10-02

8.  Frank-ter Haar syndrome--additional findings?

Authors:  Taha Emre Köse; Cemil İşler; Ş Neslihan Şenel; Tolga Şitilci; İlknur Özcan; Nihan Aksakallı
Journal:  Dentomaxillofac Radiol       Date:  2016       Impact factor: 2.419

9.  Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure.

Authors:  Charlotte L Bendon; Aimée L Fenwick; Jane A Hurst; Gudrun Nürnberg; Peter Nürnberg; Steven A Wall; Andrew O M Wilkie; David Johnson
Journal:  BMC Med Genet       Date:  2012-11-09       Impact factor: 2.103

10.  Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.

Authors:  Gabrielle R Wilson; Jasmine Sunley; Katherine R Smith; Kate Pope; Catherine J Bromhead; Elizabeth Fitzpatrick; Maja Di Rocco; Maurice van Steensel; David J Coman; Richard J Leventer; Martin B Delatycki; David J Amor; Melanie Bahlo; Paul J Lockhart
Journal:  Eur J Hum Genet       Date:  2013-10-09       Impact factor: 4.246
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