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Academic Journal

PHACE Syndrome (Posterior Fossa Malformations, Hemangioma, Arterial Anomalies, Coarctation of the Aorta/ Cardiac Defects, and Eye Abnormalities) /Cutaneous Hemangioma-Vascular Complex Syndrome/Pascual-Castroviejo Type II Syndrome.

  • Authors : Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Near NIMHANS, Bengaluru, Karnataka, 560029, India. .; Srinivasan VM

Subjects: Aortic Coarctation*/Aortic Coarctation*/Aortic Coarctation*/diagnostic imaging ; Hemangioma*/Hemangioma*/Hemangioma*/diagnosis ; Eye Abnormalities*/Eye Abnormalities*/Eye Abnormalities*/diagnosis

  • Source: Indian journal of pediatrics [Indian J Pediatr] 2024 Jan; Vol. 91 (1), pp. 86-87. Date of Electronic Publication: 2023 Jun 09.Publisher: Dr. K. C. Chaudhuri Foundation, co-published by Springer India Country of Publication: India NLM ID: 0417442 Publication Model: Print-Electronic

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Academic Journal

Prevalence and prenatal diagnosis of congenital eye anomalies: A population-based study.

  • Authors : Maillet C; Department of Fetal Medicine, Sorbonne University, AP-HP Sorbonne University, Trousseau Hospital, Paris, France.; Guilbaud L

Subjects: Eye Abnormalities*/Eye Abnormalities*/Eye Abnormalities*/epidemiology ; Eye Abnormalities*/Eye Abnormalities*/Eye Abnormalities*/diagnosis ; Prenatal Diagnosis*/Prenatal Diagnosis*/Prenatal Diagnosis*/statistics & numerical data

  • Source: BJOG : an international journal of obstetrics and gynaecology [BJOG] 2024 Sep; Vol. 131 (10), pp. 1385-1391. Date of Electronic Publication: 2024 Mar 25.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 100935741 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Evaluating neural crest cell migration in a Col4a1 mutant mouse model of ocular anterior segment dysgenesis.

  • Authors : Cozzitorto C; Department of Ophthalmology, University of California, San Francisco, CA 94158, United States. Electronic address: .; Peltz Z

Subjects: Neural Crest*/Neural Crest*/Neural Crest*/metabolism ; Neural Crest*/Neural Crest*/Neural Crest*/pathology ; Collagen Type IV*/Collagen Type IV*/Collagen Type IV*/genetics Anterior segment mesenchymal dysgenesis

  • Source: Cells & development [Cells Dev] 2024 Sep; Vol. 179, pp. 203926. Date of Electronic Publication: 2024 May 09.Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101775611 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Adult PHACE Syndrome Presenting With Visual Field Loss: A Case Report and Review of the Literature.

  • Authors : Chen YT; Department of Medical Imaging (Y-TC, KL-CH), Taipei Medical University Hospital, Taipei, Taiwan; Department of Pediatrics (Y-LL), School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan

Subjects: Visual Fields*/Visual Fields*/Visual Fields*/physiology ; Neurocutaneous Syndromes*/Neurocutaneous Syndromes*/Neurocutaneous Syndromes*/diagnosis ; Neurocutaneous Syndromes*/Neurocutaneous Syndromes*/Neurocutaneous Syndromes*/complications PHACE association

  • Source: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society [J Neuroophthalmol] 2024 Sep 01; Vol. 44 (3), pp. e317-e319. Date of Electronic Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 9431308 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Pleiotropy in FOXC1-attributable phenotypes involves altered ciliation and cilia-dependent signaling.

  • Authors : Havrylov S; Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada.; Department of Ophthalmology, 829 Medical Sciences Building, University of Alberta, Edmonton, AB, T6G 2H7, Canada.

Subjects: Cilia*/Cilia*/Cilia*/metabolism ; Cilia*/Cilia*/Cilia*/pathology ; Forkhead Transcription Factors*/Forkhead Transcription Factors*/Forkhead Transcription Factors*/metabolism Axenfeld-Rieger syndrome

  • Source: Scientific reports [Sci Rep] 2024 Aug 31; Vol. 14 (1), pp. 20278. Date of Electronic Publication: 2024 Aug 31.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

In vivo angle dysgenesis in PHACE syndrome with developmental glaucoma.

  • Authors : Varshney T; Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, Delhi, Delhi, India.; Maddu SV

Subjects: Neurocutaneous Syndromes*/Neurocutaneous Syndromes*/Neurocutaneous Syndromes*/diagnostic imaging ; Neurocutaneous Syndromes*/Neurocutaneous Syndromes*/Neurocutaneous Syndromes*/complications ; Neurocutaneous Syndromes*/Neurocutaneous Syndromes*/Neurocutaneous Syndromes*/diagnosis PHACE association

  • Source: BMJ case reports [BMJ Case Rep] 2024 Aug 30; Vol. 17 (8). Date of Electronic Publication: 2024 Aug 30.Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 101526291 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-790X

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Academic Journal

Defects in diffusion barrier function of ciliary transition zone caused by ciliopathy variations of TMEM218.

  • Authors : Fujii T; Department of Physiological Chemistry, Graduate School of Pharmaceutical Sciences, Kyoto University, Sakyo-ku, Kyoto 606-8501, Japan.; Liang L

Subjects: Cilia*/Cilia*/Cilia*/metabolism ; Cilia*/Cilia*/Cilia*/genetics ; Cilia*/Cilia*/Cilia*/pathology Meckel syndrome type 1; Agenesis of Cerebellar Vermis

  • Source: Human molecular genetics [Hum Mol Genet] 2024 Aug 06; Vol. 33 (16), pp. 1442-1453.Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

LAMB2 gene: broad clinical spectrum in Pierson syndrome.

  • Authors : Leventoğlu E; Department of Pediatric Nephrology, Faculty of Medicine, Gazi University, Ankara, Turkey. .; Dönmez E

Subjects: Laminin*/Laminin*/Laminin*/genetics ; Nephrotic Syndrome*/Nephrotic Syndrome*/Nephrotic Syndrome*/genetics ; Nephrotic Syndrome*/Nephrotic Syndrome*/Nephrotic Syndrome*/diagnosis Pierson syndrome

  • Source: CEN case reports [CEN Case Rep] 2024 Aug; Vol. 13 (4), pp. 258-263. Date of Electronic Publication: 2023 Dec 01.Publisher: Springer Japan Country of Publication: Japan NLM ID: 101636244 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Expanding the Phenotypic Spectrum of Pathogenic KIAA0586 Variants: From Joubert Syndrome to Hydrolethalus Syndrome.

  • Authors : Deconte D; Programa de Pós-Graduação em Patologia, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre 90050-170, Brazil.; Diniz BL

Subjects: Eye Abnormalities*/Eye Abnormalities*/Eye Abnormalities*/genetics ; Eye Abnormalities*/Eye Abnormalities*/Eye Abnormalities*/pathology ; Kidney Diseases, Cystic*/Kidney Diseases, Cystic*/Kidney Diseases, Cystic*/genetics Agenesis of Cerebellar Vermis

  • Source: International journal of molecular sciences [Int J Mol Sci] 2024 Jul 19; Vol. 25 (14). Date of Electronic Publication: 2024 Jul 19.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

Congenital versus acquired optic disc pit maculopathy: An OCT based study.

  • Authors : Prabhu V; Department of Retina and Vitreous, Narayana Nethralaya, Bengaluru, India.; Venkatesh R

Subjects: Tomography, Optical Coherence*/Tomography, Optical Coherence*/Tomography, Optical Coherence*/methods ; Optic Disk*/Optic Disk*/Optic Disk*/abnormalities ; Visual Acuity*/Visual Acuity*/Visual Acuity*/physiology

  • Source: European journal of ophthalmology [Eur J Ophthalmol] 2024 Jul; Vol. 34 (4), pp. 1183-1190. Date of Electronic Publication: 2023 Oct 26.Publisher: SAGE Publishing Country of Publication: United States NLM ID: 9110772 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  25,940 results for ""Eye Abnormalities""