Ophthalmic Genetics, Volume 8, Issue 3 (1987)

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Ophthalmic Paediatrics and Genetics, Volume 8, Issue 3 (1987)

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Original Article

Article
Choroideremia, congenital deafness and mental retardation in a family with an X chromosomal deletion
T. Rosenberg, E. Niebuhr, H.-M. Yang, A. Parving & M. Schwartz
Pages: 139-143
Published online: 08 Jul 2009
AbstractforChoroideremia, congenital deafness and mental retardation in a family with an X chromosomal deletion | References | PDF (592.3 KB)
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Article
High resolution G-banding analysis in aniridia
Yoshihiro Hotta, Keiko Fujiki, Nobuo Ishida, Kazuo Kato, Akira Nakajima & Hideo Takamatsu
Pages: 145-150
Published online: 08 Jul 2009
AbstractforHigh resolution G-banding analysis in aniridia | References | PDF (767.1 KB)
  • 3 Views
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Article
Retinoblastoma extension into the choroid: Pathological study of the neoplastic process and thoughts about its prognostic significance
J. Reimer Wolter
Pages: 151-157
Published online: 08 Jul 2009
AbstractforRetinoblastoma extension into the choroid: Pathological study of the neoplastic process and thoughts about its prognostic significance | References | PDF (1.9 MB)
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Article
The Weissenbacher-Zweymüller phenotype in the neonatal period as an expression in the continuum of manifestations of the hereditary arthroophthalmopathies
Nina Scribanu, John O'neill & David Rimoin
Pages: 159-163
Published online: 08 Jul 2009
AbstractforThe Weissenbacher-Zweymüller phenotype in the neonatal period as an expression in the continuum of manifestations of the hereditary arthroophthalmopathies | References | PDF (1.4 MB)
  • 7 Views
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Article
Waardenburg syndrome: A variant with neurological involvement
E. Kawabata, N. Ohba, A. Nakamura, S. Izumo & M. Osame
Pages: 165-170
Published online: 08 Jul 2009
AbstractforWaardenburg syndrome: A variant with neurological involvement | References | PDF (1.4 MB)
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Article
Ophthalmic midline dysgenesis in Kallmann syndrome
M. J. Jaffe, J. Currie, J. D. Schwankhaus & R. J. Sherins
Pages: 171-174
Published online: 08 Jul 2009
AbstractforOphthalmic midline dysgenesis in Kallmann syndrome | References | PDF (526.5 KB)
  • 18 Views
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Article
Ocular involvement in histidinaemia
S. P. Dhir, M. W. Shisku & A. Krewi
Pages: 175-176
Published online: 08 Jul 2009
AbstractforOcular involvement in histidinaemia | References | PDF (135.3 KB)
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Article
Cryptophthalmos syndrome: Clinical and histopathological findings
Jacob Pe'er, David Benezra, Mordechai Sela & Itzhak Hemo
Pages: 177-182
Published online: 08 Jul 2009
AbstractforCryptophthalmos syndrome: Clinical and histopathological findings | References | PDF (985.5 KB)
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Article
Peroxisomal dysfunction in chondrodysplasia punctata, rhizomelic type
J. W. E. Oorthuys, D. H. Loewer-Sieger, R. B. H. Schutgens, R. J. A. Wanders, H. S. A. Heymans & E. M. Bleeker-Wagemakers
Pages: 183-185
Published online: 08 Jul 2009
AbstractforPeroxisomal dysfunction in chondrodysplasia punctata, rhizomelic type | References | PDF (151.7 KB)
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Article
Galactose-1-P-uridyl transferase activity in patients with congenital and infantile cataract
F. Simonelli, L. Cotticelli, S. Russo, A. Di Meo & E. Rinaldi
Pages: 187-190
Published online: 08 Jul 2009
AbstractforGalactose-1-P-uridyl transferase activity in patients with congenital and infantile cataract | References | PDF (231.2 KB)
  • 5 Views
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Article
Superoxide dismutase activity and reduced glutathione content in cataractous lens of patients with glucose-6-phosphate dehydrogenase deficiency
A. Vanella, G. Gorgone, N. Cavallaro, C. Castorina, A. Campisi, C. Di Giacomo, E. Bousquet, S. Li Volti & F. Mollica
Pages: 191-195
Published online: 08 Jul 2009
AbstractforSuperoxide dismutase activity and reduced glutathione content in cataractous lens of patients with glucose-6-phosphate dehydrogenase deficiency | References | PDF (333.1 KB)
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Article
Screening for red blood cell sorbitol dehydrogenase deficiency in patients with diabetes or cataracts
C. Medina, G. Vaca, J. Ríos, E. Chávez-Anaya, R. Ocampo, S. García-Maravilla, R. Arreola & J. M. Cantú
Pages: 197-202
Published online: 08 Jul 2009
AbstractforScreening for red blood cell sorbitol dehydrogenase deficiency in patients with diabetes or cataracts | References | PDF (338.7 KB)
  • 17 Views
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Article
Traumatic cataracts in young children: Correction of aphakia by intraocular lens implantation
Yitzchak Hemo & David Benezra
Pages: 203-207
Published online: 08 Jul 2009
AbstractforTraumatic cataracts in young children: Correction of aphakia by intraocular lens implantation | References | PDF (290 KB)
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