نتائج البحث - "Gail Maconachie"

Relation: Strabismus; Cataracts; Prematurity; Astigmatism; Evaluation of vision loss; Ptosis; Conversion and somatization disorders; Ophthalmology; Pediatrics and adolescent medicine

View record at BMJ Best Practice

4

Eye movement defects in KO zebrafish reveals SRPK3 as a causative gene for an X-linked intellectual disability

المؤلفون: Cheol-Hee Kim, Yu-Ri Lee, Mervyn Thomas, Arkaprava Roychaudhury, Cindy Skinner, Gail Maconachie, Moira Crosier, Holli Horak, Cris Constantinescu, Tae-Ik Choi, Jae-Jun Kyung, Tao Wang, Bonsu Ku, Bernard Chodirker, Michael Hammer, Irene Gottlob, William Norton, Albert Chudley, Charles Schwartz

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4f138ec91670f4339dddad2a2245db59
https://doi.org/10.21203/rs.3.rs-2683050/v1

5

Retinal development in infants and young children with albinism: evidence for plasticity in early childhood

المؤلفون: Helena Lee, Ravi Purohit, Viral Sheth, Gail Maconachie, Zhanhan Tu, Mervyn G. Thomas, Anastasia Pilat, Rebecca J. McLean, Frank A. Proudlock, Irene Gottlob

مصطلحات موضوعية: Ophthalmology, Fovea Centralis, Cross-Sectional Studies, Albinism, Child, Preschool, Infant, Newborn, Infant, Humans, Prospective Studies, Child, Tomography, Optical Coherence

وصف الملف: text

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::168dee3168a2a0a0affa90db78d43e28
https://eprints.soton.ac.uk/469898/

6

Current and emerging treatments for albinism

المؤلفون: Helen J Kuht, Gail Maconachie, Siyin Liu, Mervyn G Thomas, Emily Haejoon Moon

المصدر: Survey of Ophthalmology. 66:362-377

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8626df5e9f582fabd4f4116397ae5b04
https://doi.org/10.1016/j.survophthal.2020.10.007

View record from ScienceDirect

Full Text via ClinicalKey

7

SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization

المؤلفون: Jinu Han, Seung-Tae Lee, Rebecca J. McLean, Nicolas Sylvius, Hyun Taek Lim, Usman Mahmood, Sung Eun Park, Viral Sheth, Helen J Kuht, Gail Maconachie, Mervyn G Thomas, Michael Hisaund, Basu Dawar, Irene Gottlob, Frank A Proudlock

المصدر: Human Molecular Genetics

مصطلحات موضوعية: Male, AcademicSubjects/SCI01140, 0301 basic medicine, Fovea Centralis, PAX6 Transcription Factor, genetic structures, Visual Acuity, medicine.disease_cause, chemistry.chemical_compound, 0302 clinical medicine, Foveal, Eye Abnormalities, Child, Genetics (clinical), Mutation, High-Throughput Nucleotide Sequencing, Cell Differentiation, General Medicine, Photoreceptor outer segment, Pedigree, medicine.anatomical_structure, Child, Preschool, Retinal Cone Photoreceptor Cells, Optic nerve, Albinism, Female, General Article, Nystagmus, Congenital, Tomography, Optical Coherence, Adult, Ocular albinism, medicine.medical_specialty, Adolescent, Biology, Retina, Young Adult, 03 medical and health sciences, Anterior Eye Segment, Ophthalmology, Genetics, medicine, Humans, Genetic Predisposition to Disease, Molecular Biology, Infant, Retinal, medicine.disease, eye diseases, Amino Acid Transport Systems, Neutral, 030104 developmental biology, chemistry, 030221 ophthalmology & optometry, sense organs

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ff4877f4444bc42219067585d969e51
https://doi.org/10.1093/hmg/ddaa166

8

Ocular Manifestations of PNPT1-Related Neuropathy

المؤلفون: Mervyn G Thomas, Kevin A Thomas, Gail Maconachie, Michael Hisaund, Helen J Kuht

المصدر: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society. 41(3)

مصطلحات موضوعية: Male, medicine.medical_specialty, Fovea Centralis, business.industry, DNA Mutational Analysis, MEDLINE, Optic Nerve, DNA, Optic Atrophy, Hereditary, Leber, Dermatology, Pedigree, Ophthalmology, Exoribonucleases, Mutation, Medicine, Humans, Female, Neurology (clinical), Visual Fields, business, Tomography, Optical Coherence

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::652572a790a368fd391f76b4d0da5d3f
https://pubmed.ncbi.nlm.nih.gov/34415280

9

Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus

المؤلفون: Elfride De Baere, Gail Maconachie, Abdussalam Azem, Peter Bauer, Yuval Cohen, Martin Schulze, Birgit Lorenz, Bernd Wissinger, Rajech Sharkia, Basamat Almoallem, Irene Gottlob, Muhammad Mahajnah, Anja K. Mayer, Susanne Kohl, Elias I. Traboulsi, Adib Habib, Mervyn G Thomas

المصدر: Brain. 142:1528-1534

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, genetic structures, Consanguinity, Nystagmus, Nervous System Malformations, Article, Mice, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Basic Helix-Loop-Helix Transcription Factors, Electroretinography, medicine, Animals, Humans, Optic Nerve Hypoplasia, Child, Exome sequencing, biology, business.industry, Homozygote, Genetic disorder, medicine.disease, Aryl hydrocarbon receptor, eye diseases, Hypoplasia, Pedigree, 030104 developmental biology, Endocrinology, Receptors, Aryl Hydrocarbon, Mutation, biology.protein, Albinism, Female, Neurology (clinical), medicine.symptom, business, Nystagmus, Congenital, 030217 neurology & neurosurgery, Horizontal pendular nystagmus

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f33da5a8400e6e0ec889f72e95b9e16a
https://doi.org/10.1093/brain/awz098

10

Clinical utility gene card for FRMD7-related infantile nystagmus

المؤلفون: Helen J Kuht, Jinu Han, Basu Dawar, Mervyn G Thomas, Gail Maconachie

المصدر: Eur J Hum Genet

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Infantile nystagmus, MEDLINE, Membrane Proteins, Genetic Diseases, X-Linked, Sensitivity and Specificity, Cytoskeletal Proteins, Clinical Utility Gene Card, Mutation, Genetics, Medicine, Humans, Genetic Testing, business, Gene, Nystagmus, Congenital, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b715741513d36876e00db6521eefd5a9
https://europepmc.org/articles/PMC8484540/

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