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  • 1-10 ل  108 نتائج ل ""Microphthalmos""

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Subject : mutation
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Academic Journal

A novel MFRP gene variant in a family with posterior microphthalmos, retinitis pigmentosa, foveoschisis, and foveal hypoplasia.

  • Authors : Godinho G; Department of Ophthalmology, Centro Hospitalar e Universitário São João , Porto, Portugal.; Madeira C

Subjects: Mutation*; Eye Diseases, Hereditary/Eye Diseases, Hereditary/Eye Diseases, Hereditary/*pathology ; Fovea Centralis/Fovea Centralis/Fovea Centralis/*abnormalities Foveal Hypoplasia, Isolated

  • Source: Ophthalmic genetics [Ophthalmic Genet] 2020 Oct; Vol. 41 (5), pp. 474-479. Date of Electronic Publication: 2020 Jul 23.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Posterior microphthalmos with retinal involvement related to MFRP gene: a report of 10 Brazilian patients

Subjects: Male; Adult; Adolescent

  • Source: Ophthalmic Genetics. 45:413-420

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Academic Journal

Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos.

  • Authors : Bacci GM; Pediatric Ophthalmology Unit, A. Meyer Children's Hospital, Firenze, Italy.; Bargiacchi S

Subjects: Mutation*; Membrane Proteins/Membrane Proteins/Membrane Proteins/*genetics ; Microphthalmos/Microphthalmos/Microphthalmos/*pathology

  • Source: Ophthalmic genetics [Ophthalmic Genet] 2020 Feb; Vol. 41 (1), pp. 49-56. Date of Electronic Publication: 2020 Mar 02.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Microphthalmos-anophthalmos-coloboma (MAC) spectrum in two brothers with Renpenning syndrome due to a truncating mutation in the polyglutamine tract binding protein 1 ( PQBP1 ) gene.

  • Authors : Mameesh MM; Department of Ophthalmology, Sultan Qaboos University Hospital, Muscat, Oman.; Department of Ophthalmology, Alexandria School of Medicine, Alexandria, Egypt.

Subjects: Mutation*; Anophthalmos/Anophthalmos/Anophthalmos/*pathology ; Cerebral Palsy/Cerebral Palsy/Cerebral Palsy/*complications Renpenning syndrome 1

  • Source: Ophthalmic genetics [Ophthalmic Genet] 2019 Dec; Vol. 40 (6), pp. 534-540. Date of Electronic Publication: 2019 Nov 13.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Posterior microphthalmos, retinitis pigmentosa, and foveoschisis caused by a mutation in the MFRP gene: a familial study.

Subjects: Genetic Predisposition to Disease* ; Mutation*; Fovea Centralis/Fovea Centralis/Fovea Centralis/*pathology

  • Source: Ophthalmic genetics [Ophthalmic Genet] 2019 Jun; Vol. 40 (3), pp. 288-292. Date of Electronic Publication: 2019 Jul 02.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Genotype-phenotype spectrum in isolated and syndromic nanophthalmos.

  • Authors : Lang E; Department of Ophthalmology, University Hospital Zurich and University of Zurich, Zurich, Switzerland.; Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland.

Subjects: Mutation*; DNA/DNA/DNA/*genetics ; Membrane Proteins/Membrane Proteins/Membrane Proteins/*genetics Nanophthalmos 3

  • Source: Acta ophthalmologica [Acta Ophthalmol] 2021 Jun; Vol. 99 (4), pp. e594-e607. Date of Electronic Publication: 2020 Sep 30.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101468102 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

A Novel Mutation p.S93R in CRYBB1 Associated with Dominant Congenital Cataract and Microphthalmia.

  • Authors : Jin A; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.; Zhang Y

Subjects: Mutation*; Cataract/Cataract/Cataract/*genetics ; DNA/DNA/DNA/*genetics

  • Source: Current eye research [Curr Eye Res] 2020 Apr; Vol. 45 (4), pp. 483-489. Date of Electronic Publication: 2019 Oct 15.Publisher: Informa Healthcare Country of Publication: England NLM ID: 8104312 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Congenital microcephaly-linked CDK5RAP2 affects eye development.

  • Authors : Zaqout S; Institute of Cell and Neurobiology, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Center for Chronically Sick Children (Sozialpädiatrisches Zentrum, SPZ), Charité - Universitätsmedizin Berlin, Berlin, Germany.

Subjects: Mutation*; Anophthalmos/Anophthalmos/Anophthalmos/*pathology ; Cell Cycle Proteins/Cell Cycle Proteins/Cell Cycle Proteins/*genetics

  • Source: Annals of human genetics [Ann Hum Genet] 2020 Jan; Vol. 84 (1), pp. 87-91. Date of Electronic Publication: 2019 Jul 29.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0416661 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Identification of PITX3 mutations in individuals with various ocular developmental defects.

  • Authors : Zazo Seco C; a UDEAR , Université de Toulouse, UMRS 1056 INSERM-Université Paul Sabatier , Toulouse , France.; Plaisancié J

Subjects: Heterozygote* ; Mutation*; Cataract/Cataract/Cataract/*genetics

  • Source: Ophthalmic genetics [Ophthalmic Genet] 2018 Jun; Vol. 39 (3), pp. 314-320. Date of Electronic Publication: 2018 Feb 06.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Vitamin A deficiency due to bi-allelic mutation of RBP4: There's more to it than meets the eye.

  • Authors : Khan KN; a University College London Institute of Ophthalmology , University College London , London , UK.; b Medical Retina Service , Moorfields Eye Hospital , London , UK.

Subjects: Mutation*; Coloboma/Coloboma/Coloboma/*genetics ; Iris/Iris/Iris/*abnormalities

  • Source: Ophthalmic genetics [Ophthalmic Genet] 2017 Sep-Oct; Vol. 38 (5), pp. 465-466. Date of Electronic Publication: 2016 Nov 28.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 ل  108 نتائج ل ""Microphthalmos""