نتائج البحث - "Fabiola Ceroni"

المساهمون: Cameli C, Viggiano M, Rochat MJ, Maresca A, Caporali L, Fiorini C, Palombo F, Magini P, Duardo RC, Ceroni F, Scaduto MC, Posar A, Seri M, Carelli V, Visconti P, Bacchelli E, Maestrini E.

المصدر: Journal of Cellular and Molecular Medicine

مصطلحات موضوعية: 0301 basic medicine, Proband, Male, Autism Spectrum Disorder, 0302 clinical medicine, Gene Regulatory Networks, Neural Cell Adhesion Molecules, Sequence Deletion, Genetics, Comparative Genomic Hybridization, mtDNA, Exons, Genomics, Phenotype, Penetrance, Heteroplasmy, Autism spectrum disorder, 030220 oncology & carcinogenesis, Molecular Medicine, Original Article, Female, Adult, Mitochondrial DNA, Heterozygote, DNA Copy Number Variations, Biology, ASD, Deep sequencing, 03 medical and health sciences, NRXN1, Exome Sequencing, medicine, Humans, Genetic Predisposition to Disease, penetrance, Gene, Genetic Association Studies, Gene Expression Profiling, Calcium-Binding Proteins, rare variants, Computational Biology, Genetic Variation, Infant, Cell Biology, Original Articles, medicine.disease, 030104 developmental biology, Genome, Mitochondrial

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff61dcabffe3e239ad59cd1950740299
http://hdl.handle.net/11585/795590

8

Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits

المؤلفون: Alison Kraus, Arif O. Khan, Fanny Thuriot, Fowzan S. Alkuraya, Fabiola Ceroni, Wayne S. Sossin, Nicola K. Ragge, Rana Helaby, Carole A. Farah, Sébastien Lévesque, Richard J. Holt, Congyao Zha, Lama Al-Abdi

المساهمون: Zha C., Farah C.A., Holt R.J., Ceroni F., Al-Abdi L., Thuriot F., Khan A.O., Helaby R., Levesque S., Alkuraya F.S., Kraus A., Ragge N.K., Sossin W.S.

المصدر: Hum Mol Genet

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8de5ffeada4647234ff5d08344e7f2d5
https://hdl.handle.net/11585/808292

9

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

المساهمون: Holt R.J., Young R.M., Crespo B., Ceroni F., Curry C.J., Bellacchio E., Bax D.A., Ciolfi A., Simon M., Fagerberg C.R., van Binsbergen E., De Luca A., Memo L., Dobyns W.B., Mohammed A.A., Clokie S.J.H., Zazo Seco C., Jiang Y.-H., Sorensen K.P., Andersen H., Sullivan J., Powis Z., Chassevent A., Smith-Hicks C., Petrovski S., Antoniadi T., Shashi V., Gelb B.D., Wilson S.W., Gerrelli D., Tartaglia M., Chassaing N., Calvas P., Ragge N.K.

المصدر: Holt, R J, Young, R M, Crespo, B, Ceroni, F, Curry, C J, Bellacchio, E, Bax, D A, Ciolfi, A, Simon, M, Fagerberg, C R, van Binsbergen, E, De Luca, A, Memo, L, Dobyns, W B, Mohammed, A A, Clokie, S J H, Zazo Seco, C, Jiang, Y H, Sørensen, K P, Andersen, H, Sullivan, J, Powis, Z, Chassevent, A, Smith-Hicks, C, Petrovski, S, Antoniadi, T, Shashi, V, Gelb, B D, Wilson, S W, Gerrelli, D, Tartaglia, M, Chassaing, N, Calvas, P & Ragge, N K 2019, ' De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies ', American Journal of Human Genetics, vol. 105, no. 3, pp. 640-657 . https://doi.org/10.1016/j.ajhg.2019.07.005
American Journal of Human Genetics

وصف الملف: application/pdf; STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1ac6035c7582657339b72496940ad80
https://findresearcher.sdu.dk:8443/ws/files/153983581/De_Novo_Missense_Variants_in_FBXW11_Cause_Diverse_Developmental_Phenotypes_Including_Brain_Eye_and_Digit_Anomalies.pdf

10

New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies

المساهمون: Oxford Brookes University, Universidad Autónoma de Madrid (UAM), CIBER de Enfermedades Raras (CIBERER), Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Oxford University Hospitals NHS Trust, University of Oxford, University College of London [London] (UCL), University Hospital Murcia, Partenaires INRAE, Birmingham Women's and Children's NHS Foundation Trust, Salisbury District Hospital, Sheffield Children's NHS Foundation Trust, University Hospital Southampton NHS Foundation Trust, University of Southampton, Liverpool Women's NHS Foundation Trust, CHI Poissy-Saint-Germain, Fondation Ophtalmologique Adolphe de Rothschild [Paris], St George's, University of London, The Wellcome Trust Sanger Institute [Cambridge], CP12/03256/Spanish Institute of Health Carlos III SAF2013-46943-R/Spanish Ministry of Economy and CompetitivenessHICF-1009-003/Health Innovation Challenge Fund, Pistre, Karine, Ceroni F., Aguilera-Garcia D., Chassaing N., Bax D.A., Blanco-Kelly F., Ramos P., Tarilonte M., Villaverde C., da Silva L.R.J., Ballesta-Martinez M.J., Sanchez-Soler M.J., Holt R.J., Cooper-Charles L., Bruty J., Wallis Y., McMullan D., Hoffman J., Bunyan D., Stewart A., Stewart H., Lachlan K., Fryer A., McKay V., Roume J., Dureau P., Saggar A., Griffiths M., Calvas P., Ayuso C., Corton M., Ragge N.K.

المصدر: Human Genetics
Human Genetics, 2019, 138 (8-9), pp.1027-1042. ⟨10.1007/s00439-018-1875-2⟩

مصطلحات موضوعية: Male, MESH: Mutation, Missense / genetics, Human eye development, genetic structures, MESH: Lens, Crystalline / pathology, medicine.disease_cause, Microphthalmia, Connexins, Cohort Studies, Missense mutation, Eye Abnormalities, MESH: Cohort Studies, Genetics (clinical), MESH: Heterozygote, Genetics, 0303 health sciences, Coloboma, Mutation, 030305 genetics & heredity, Gap Junctions, MESH: Gap Junctions / genetics, Pedigree, GJA8, Phenotype, MESH: Connexins / genetics, [SDV.IMM]Life Sciences [q-bio]/Immunology, Female, Gap Junction, Heterozygote, [SDV.IMM] Life Sciences [q-bio]/Immunology, MESH: Pedigree, MESH: Eye Proteins / genetics, Mutation, Missense, Biology, Connexin, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, MESH: Phenotype, Cataract, 03 medical and health sciences, Cataracts, MESH: Genetic Association Studies / methods, Lens, Crystalline, medicine, Humans, Sclerocornea, Eye Proteins, Genetic Association Studies, 030304 developmental biology, Anophthalmia, MESH: Humans, aphakia, Len, medicine.disease, eye diseases, MESH: Male, MESH: Cataract / genetics, microphthalmia, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, MESH: Eye Abnormalities / genetics, Eye development, sense organs, MESH: Female

وصف الملف: application/pdf; STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::122f27747b3dc12ebac73973e54e0086
https://ut3-toulouseinp.hal.science/hal-03542896

Find this article in full text from Springer Verlag.

Find this article in full text from ProQuest

تنقيح النتائج