المؤلفون: Crispin SM; Department of Clinical Veterinary Science, Langford, Bristol., Bazeley KJ, Long SE, Gould DJ, Watts JA

المصدر: The Veterinary record [Vet Rec] 2000 Sep 23; Vol. 147 (13), pp. 364-5.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: England NLM ID: 0031164 Publication Model: Print Cited Medium: Print ISSN: 0042-4900 (Print) Linking ISSN: 00424900 NLM ISO Abbreviation: Vet Rec Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia/*veterinary , Sheep Diseases/*diagnosis, Animals ; Animals, Newborn ; Aniridia/diagnosis ; Aniridia/genetics ; Male ; Sheep ; Sheep Diseases/genetics ; Sheep Diseases/pathology

المؤلفون: Nagashima Y; Department of Pathology, Yokohama City University School of Medicine, Japan., Nishihira H, Miyagi Y, Tanaka Y, Sasaki Y, Nishi T, Imaizumi K, Aoki I, Misugi K

المصدر: Cancer [Cancer] 1996 Feb 15; Vol. 77 (4), pp. 799-804.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 0374236 Publication Model: Print Cited Medium: Print ISSN: 0008-543X (Print) Linking ISSN: 0008543X NLM ISO Abbreviation: Cancer Subsets: MEDLINE

مواضيع طبية MeSH: Chromosome Deletion* , Chromosomes, Human, Pair 11* , Genes, Wilms Tumor*, Aniridia/*pathology , Kidney Neoplasms/*pathology , Wilms Tumor/*genetics , Wilms Tumor/*pathology, Alleles ; Animals ; Aniridia/complications ; Aniridia/genetics ; Biopsy ; Chromosome Mapping ; Humans ; Immunohistochemistry ; Infant ; Keratins/analysis ; Kidney Neoplasms/genetics ; Kidney Neoplasms/surgery ; Kidney Neoplasms/ultrastructure ; Male ; Mice ; Mice, Nude ; Microscopy, Electron ; Mucin-1/analysis ; Mucoproteins/analysis ; Neoplasm Proteins/analysis ; S100 Proteins/analysis ; Transplantation, Heterologous ; Uromodulin ; Vimentin/analysis ; Wilms Tumor/surgery ; Wilms Tumor/ultrastructure

المؤلفون: Joyce JR; Department of Veterinary Large Animal Medicine and Surgery, College of Veterinary Medicine, Texas A&M University, College Station 77843, USA., Martin JE, Storts RW, Skow L

المصدر: Equine veterinary journal. Supplement [Equine Vet J Suppl] 1990 Sep (10), pp. 26-8.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 9614088 Publication Model: Print Cited Medium: Print NLM ISO Abbreviation: Equine Vet J Suppl Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia/*veterinary , Cataract/*veterinary , Dermoid Cyst/*veterinary , Eye Neoplasms/*veterinary , Horse Diseases/*genetics , Iris/*abnormalities, Animals ; Aniridia/genetics ; Aniridia/pathology ; Cataract/genetics ; Cataract/pathology ; Dermoid Cyst/genetics ; Dermoid Cyst/pathology ; Eye Neoplasms/genetics ; Eye Neoplasms/pathology ; Female ; Horse Diseases/pathology ; Horses ; Iris/pathology ; Lens, Crystalline/pathology ; Male

المؤلفون: Ueda Y; Equine Research Institute, Japan Racing Association, Tokyo, Japan.

المصدر: Equine veterinary journal. Supplement [Equine Vet J Suppl] 1990 Sep (10), pp. 29.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 9614088 Publication Model: Print Cited Medium: Print NLM ISO Abbreviation: Equine Vet J Suppl Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia/*veterinary , Horse Diseases/*pathology, Animals ; Aniridia/pathology ; Behavior, Animal ; Horses ; Iris/abnormalities ; Iris/pathology ; Male

المؤلفون: Kiely C; Department of Paediatric Dermatology, Children's University Hospital, Dublin, Ireland., Devaney D, Fischer J, Lenane P, Irvine AD

المصدر: Pediatric dermatology [Pediatr Dermatol] 2014 Jul-Aug; Vol. 31 (4), pp. 517-8. Date of Electronic Publication: 2014 May 29.

نوع المنشور: Case Reports; Journal Article; Review

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 8406799 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1525-1470 (Electronic) Linking ISSN: 07368046 NLM ISO Abbreviation: Pediatr Dermatol Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Aniridia/*genetics , Fatty Acid Transport Proteins/*genetics , Ichthyosis/*genetics , Infant, Premature, Diseases/*genetics , Kidney/*abnormalities , Psychomotor Disorders/*genetics , Skin/*pathology, Female ; Humans ; Infant, Newborn ; Male

SCR Disease Name: Ichthyosis prematurity syndrome

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Xiaoliang Liu, Yuanyuan Zhang, Bijun Zhang, Haiming Gao, Chuang Qiu

المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 5, Pp n/a-n/a (2020)

مصطلحات موضوعية: congenital aniridia, nonsense suppression therapy, nonsense‐mediated mRNA decay, PAX6, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/a14afe2a7157488caeda7c2dc2ea808a

المؤلفون: Lisa B. E. Shields, Dennis S. Peppas, Eran Rosenberg

المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)

مصطلحات موضوعية: aniridia, genetics, pediatric urology, ureteral valve, wilms tumor, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/474dbbbac7b645b9a7fa051fcc4446b6

المؤلفون: Ewelina Bukowska-Olech, Aleksander Jamsheer, Anna Sowińska-Seidler, Anna Wawrocka, Joanna Walczak-Sztulpa, Bartłomiej Budny, Magdalena Pilas-Pomykalska, Magdalena Socha, Lukasz Kuszel, Maciej R Krawczyński

المصدر: American Journal of Medical Genetics Part A. 188:642-647

مصطلحات موضوعية: Proband, Whole genome sequencing, Genetics, congenital, hereditary, and neonatal diseases and abnormalities, business.industry, Partial aniridia, medicine.disease, Asymptomatic, eye diseases, Hypoplasia, Aniridia, Medicine, sense organs, PAX6, medicine.symptom, business, Genetics (clinical), Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8d1ec07e011c8325551fb24141a3432a
https://doi.org/10.1002/ajmg.a.62559

المؤلفون: Alexandra Z. Crawford, Simone E. N. Freundlich, Joevy Lim, Charles N. J. McGhee

المصدر: Clinical & Experimental Ophthalmology. 50:490-499

مصطلحات موضوعية: Lenses, Intraocular, Prosthesis Implantation, Ophthalmology, Postoperative Complications, Lens Implantation, Intraocular, Visual Acuity, Humans, Iris, Aniridia, Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76cda5d3664716be1fa1c1486fbb4b23
https://doi.org/10.1111/ceo.14083