Item request has been placed! ×
Item request cannot be made. ×
loading  Processing Request

نتائج البحث

Display Settings
النتائج لكل صفحة: 10
Sort By: Relevance
Filter
  • 1-10 ل  88 نتائج ل ""Microphthalmos""

فلترة النتائج

Publisher : informa healthcare
إعادة تعيين خيارات الفبترة
Item request has been placed! ×
Item request cannot be made. ×
loading  Processing Request
Academic Journal

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

  • Authors : Amaral RAS; Department of Ophthalmology, Federal University of São Paulo, São Paulo, Brazil.; Instituto de Genética Ocular (IGO), São Paulo, Brazil.

Subjects: Microphthalmos*/Microphthalmos*/Microphthalmos*/genetics ; Microphthalmos*/Microphthalmos*/Microphthalmos*/pathology; Humans

  • Source: Ophthalmic genetics [Ophthalmic Genet] 2024 Aug; Vol. 45 (4), pp. 413-420. Date of Electronic Publication: 2024 Apr 01.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Dilemmas in the management of lacrimal drainage anomalies in BOSMA (congenital arhinia-microphthalmia) syndrome.

  • Authors : Varde MA; Ophthalmology, Cantonal Hospital St. Gallen, St. Gallen, Switzerland.; Ali MJ

Subjects: Dacryocystorhinostomy*/Dacryocystorhinostomy*/Dacryocystorhinostomy*/methods ; Microphthalmos*/Microphthalmos*/Microphthalmos*/surgery ; Microphthalmos*/Microphthalmos*/Microphthalmos*/diagnosis

  • Source: Orbit (Amsterdam, Netherlands) [Orbit] 2025 Feb; Vol. 44 (1), pp. 121-124. Date of Electronic Publication: 2024 May 07.Publisher: Informa Healthcare Country of Publication: England NLM ID: 8301221 Publication Model: Print-Electronic Cited

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×
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

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Monoallelic missense variants in MAB21L1 cause a novel autosomal dominant microphthalmia.

  • Authors : Li J; Reproductive Medicine Center, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, Shanghai, China.; Wang Q

Subjects: Alleles* ; Genes, Dominant* ; Microphthalmos*/Microphthalmos*/Microphthalmos*/genetics

  • Source: Ophthalmic genetics [Ophthalmic Genet] 2024 Dec; Vol. 45 (6), pp. 650-656. Date of Electronic Publication: 2024 Jul 17.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×
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

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×
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

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×
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

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Characteristics and management of congenital anophthalmos and microphthalmos at a tertiary eye hospital.

  • Authors : Galindo-Ferreiro A; a Department of Ophthalmology , Rio Hortega University Hospital , Valladolid , Spain.; b Oculoplastics and Orbit Division , King Khaled Eye Specialist Hospital , Riyadh , Saudi Arabia.

Subjects: Eye, Artificial* ; Orbital Implants*; Anophthalmos/Anophthalmos/Anophthalmos/*surgery

  • Source: Orbit (Amsterdam, Netherlands) [Orbit] 2019 Jun; Vol. 38 (3), pp. 192-198. Date of Electronic Publication: 2018 Oct 04.Publisher: Informa Healthcare Country of Publication: England NLM ID: 8301221 Publication Model: Print-Electronic Cited

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Microphthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report.

  • Authors : Boysen KB; Department of Ophthalmology, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

Subjects: Arthritis*/Arthritis*/Arthritis*/genetics ; Arthritis*/Arthritis*/Arthritis*/diagnosis ; Cataract*/Cataract*/Cataract*/genetics Stickler syndrome, type 2

  • Source: Ophthalmic genetics [Ophthalmic Genet] 2024 Jun; Vol. 45 (3), pp. 313-318. Date of Electronic Publication: 2024 Feb 01.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×
Editorial & Opinion

Exome sequencing reveals novel homozygous FOXE3 mutation in microphthalmos with staphylomatous malformation.

  • Authors : Saboo US; a Department of Ophthalmology , University of Texas Southwestern Medical Center , Dallas , Texas , USA.; Penke D

Subjects: Mutation, Missense*; Ciliary Body/Ciliary Body/Ciliary Body/*pathology ; Forkhead Transcription Factors/Forkhead Transcription Factors/Forkhead Transcription Factors/*genetics

  • Source: Ophthalmic genetics [Ophthalmic Genet] 2017 May-Jun; Vol. 38 (3), pp. 295-297. Date of Electronic Publication: 2016 Sep 26.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×
  • 1-10 ل  88 نتائج ل ""Microphthalmos""