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Academic Journal

Prevalence of complications in eyes with nanophthalmos or microphthalmos: protocol for a systematic review and meta-analysis.

  • Authors : Ally N; Department of Neurosciences, Division of Ophthalmology, University of the Witwatersrand, 7 York Road, Parktown, Johannesburg, Gauteng, 2193, South Africa. .; Ismail S

Subjects: Hyperopia*/Hyperopia*/Hyperopia*/complications ; Hyperopia*/Hyperopia*/Hyperopia*/diagnosis ; Hyperopia*/Hyperopia*/Hyperopia*/epidemiology

  • Source: Systematic reviews [Syst Rev] 2022 Feb 09; Vol. 11 (1), pp. 25. Date of Electronic Publication: 2022 Feb 09.Publisher: BioMed Central Country of Publication: England NLM ID: 101580575 Publication Model: Electronic Cited Medium:

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Academic Journal

Management of anophthalmia, microphthalmia and coloboma in the newborn, shared care between neonatologist and ophthalmologist: a literature review.

  • Authors : Russo M; Operative Unit of Neonatology, IRCCS Ospedale Policlinico San Martino, Genoa, 16132, Italy. .; Palmeri S

Subjects: Coloboma*/Coloboma*/Coloboma*/therapy ; Coloboma*/Coloboma*/Coloboma*/diagnosis ; Coloboma*/Coloboma*/Coloboma*/epidemiology

  • Source: Italian journal of pediatrics [Ital J Pediatr] 2025 Mar 05; Vol. 51 (1), pp. 65. Date of Electronic Publication: 2025 Mar 05.Publisher: BioMed Central Country of Publication: England NLM ID: 101510759 Publication Model: Electronic Cited Medium:

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Academic Journal

Identification of a pathogenic SMCHD1 variant in a Chinese patient with bosma arhinia microphthalmia syndrome: a case report.

  • Authors : Yang JL; Department of Cardiovascular Surgery, the Second Xiangya Hospital of Central South University, Changsha, China.; Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University, Changsha, Hunan, 410011, China.

Subjects: Microphthalmos*/Microphthalmos*/Microphthalmos*/genetics ; Chromosomal Proteins, Non-Histone*/Chromosomal Proteins, Non-Histone*/Chromosomal Proteins, Non-Histone*/genetics ; Choanal Atresia*/Choanal Atresia*/Choanal Atresia*/geneticsArhinia, choanal atresia, and microphthalmia

  • Source: BMC medical genomics [BMC Med Genomics] 2024 May 21; Vol. 17 (1), pp. 136. Date of Electronic Publication: 2024 May 21.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium:

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Academic Journal

Oculo-facio-cardio-dental (OFCD) syndrome: a case report.

  • Authors : Nguyen TT; Department of Maxillofacial Surgery and Dental, Franco-Vietnamese Hospital, Ho Chi Minh City, Vietnam. .; Truong ATH

Subjects: Eye Abnormalities* ; Microphthalmos*/Microphthalmos*/Microphthalmos*/genetics ; Heart Defects, Congenital*/Heart Defects, Congenital*/Heart Defects, Congenital*/diagnosis Microphthalmia, syndromic 2

  • Source: Journal of medical case reports [J Med Case Rep] 2024 Jan 04; Vol. 18 (1), pp. 18. Date of Electronic Publication: 2024 Jan 04.Publisher: BioMed Central Country of Publication: England NLM ID: 101293382 Publication Model: Electronic Cited Medium:

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Academic Journal

Genome-wide screening reveals the genetic basis of mammalian embryonic eye development.

Subjects: Eye Abnormalities*/Eye Abnormalities*/Eye Abnormalities*/genetics ; Anophthalmos*/Anophthalmos*/Anophthalmos*/genetics ; Microphthalmos*/Microphthalmos*/Microphthalmos*/genetics

  • Source: BMC biology [BMC Biol] 2023 Feb 03; Vol. 21 (1), pp. 22. Date of Electronic Publication: 2023 Feb 03.Publisher: BioMed Central Country of Publication: England NLM ID: 101190720 Publication Model: Electronic Cited Medium:

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Academic Journal

Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia.

  • Authors : Taylor RL; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology Medicine and Health, The University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), 6Th Floor St Mary's Hospital, Oxford Road, Manchester, M13 9WL, UK.

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

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Mar 04; Vol. 17 (1), pp. 110. Date of Electronic Publication: 2022 Mar 04.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium:

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Academic Journal

Rapid resolution of severe exudation in uveal effusion syndrome with anti-vascular endothelial growth factor alone in a case of bilateral nanophthalmos: a case report.

  • Authors : Song L; ChaoJiu Ankang Ophthalmic Hospital, DaTong, 037006, Shan Xi Province, People's Republic of China.; Dong F

Subjects: Choroid Diseases*/Choroid Diseases*/Choroid Diseases*/complications ; Choroid Diseases*/Choroid Diseases*/Choroid Diseases*/drug therapy ; Microphthalmos*

  • Source: Journal of medical case reports [J Med Case Rep] 2021 Oct 19; Vol. 15 (1), pp. 515. Date of Electronic Publication: 2021 Oct 19.Publisher: BioMed Central Country of Publication: England NLM ID: 101293382 Publication Model: Electronic Cited Medium:

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Academic Journal

A novel mutation in the CRYAA gene associated with congenital cataract and microphthalmia in a Chinese family.

  • Authors : Song Z; Department of Ophthalmology, Shengjing Hospital, China Medical University, Shenyang, 110004, Liaoning, China.; Si N

Subjects: Mutation, Missense*; Cataract/Cataract/Cataract/*genetics ; Chromosome Disorders/Chromosome Disorders/Chromosome Disorders/*genetics Microphthalmia, Isolated, with Cataract 3

  • Source: BMC medical genetics [BMC Med Genet] 2018 Oct 19; Vol. 19 (1), pp. 190. Date of Electronic Publication: 2018 Oct 19.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium:

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Academic Journal

Prenatal diagnosis and implications of microphthalmia and anophthalmia with a review of current ultrasound guidelines: two case reports.

  • Authors : Searle A; Westmead Institute for Maternal and Fetal Medicine, Westmead Hospital, Corner Hawkesbury Road and Darcy Road, Westmead, NSW, 2145, Australia. .; Shetty P

Subjects: Anophthalmos/Anophthalmos/Anophthalmos/*diagnostic imaging ; Microphthalmos/Microphthalmos/Microphthalmos/*diagnostic imaging; Adult

  • Source: Journal of medical case reports [J Med Case Rep] 2018 Aug 29; Vol. 12 (1), pp. 250. Date of Electronic Publication: 2018 Aug 29.Publisher: BioMed Central Country of Publication: England NLM ID: 101293382 Publication Model: Electronic Cited Medium:

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Academic Journal

New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review.

  • Authors : Pichiecchio A; Department of Neuroradiology, IRCCS Mondino Foundation, via Mondino 2, 27100, Pavia, Italy.; University of Pavia, Corso Strada Nuova 65, 27100, Pavia, Italy.

Subjects: Chromosomes, Human, Pair 14*; Anophthalmos/Anophthalmos/Anophthalmos/*diagnosis ; Microphthalmos/Microphthalmos/Microphthalmos/*diagnosis

  • Source: BMC medical genomics [BMC Med Genomics] 2018 Sep 29; Vol. 11 (1), pp. 87. Date of Electronic Publication: 2018 Sep 29.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium:

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