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1دورية أكاديمية
المؤلفون: Brittany Croft, Thomas Ohnesorg, Jacqueline Hewitt, Josephine Bowles, Alexander Quinn, Jacqueline Tan, Vincent Corbin, Emanuele Pelosi, Jocelyn van den Bergen, Rajini Sreenivasan, Ingrid Knarston, Gorjana Robevska, Dung Chi Vu, John Hutson, Vincent Harley, Katie Ayers, Peter Koopman, Andrew Sinclair
المصدر: Nature Communications, Vol 9, Iss 1, Pp 1-10 (2018)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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2دورية أكاديمية
المؤلفون: Brittany Croft, Thomas Ohnesorg, Jacqueline Hewitt, Josephine Bowles, Alexander Quinn, Jacqueline Tan, Vincent Corbin, Emanuele Pelosi, Jocelyn van den Bergen, Rajini Sreenivasan, Ingrid Knarston, Gorjana Robevska, Dung Chi Vu, John Hutson, Vincent Harley, Katie Ayers, Peter Koopman, Andrew Sinclair
المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-1 (2019)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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المؤلفون: Brittany Croft, Anthony D. Bird, Makoto Ono, Stefanie Eggers, Stefan Bagheri‐Fam, Janelle M. Ryan, Alejandra P. Reyes, Jocelyn van den Bergen, Anne Baxendale, Elizabeth M. Thompson, Andrew J. Kueh, Peter Stanton, Tim Thomas, Andrew H. Sinclair, Vincent R. Harley
المصدر: Clinical geneticsREFERENCES.
مصطلحات موضوعية: Genetics, Genetics (clinical)
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المؤلفون: Stefan Bagheri-Fam, Brittany Croft, Lingyun Tang, Zhenhua Ming, Peter Koopman, Vincent R. Harley, Liang Zhao, Anthony Daniel Bird, Keiichi Akita, Masayo Harada, Zhugang Wang
المصدر: Human Molecular Genetics. 29:2148-2161
مصطلحات موضوعية: Fibroblast Growth Factor 9, Male, medicine.medical_specialty, Male sex determination, Mutation, Missense, SOX9, Biology, 010402 general chemistry, 01 natural sciences, Mice, 03 medical and health sciences, FGF9, Internal medicine, Genetics, medicine, Animals, Humans, Disorders of sex development, Receptor, Fibroblast Growth Factor, Type 2, Gonads, Molecular Biology, Genetics (clinical), 030304 developmental biology, Phenocopy, 0303 health sciences, Sexual Development, Gene Expression Regulation, Developmental, SOX9 Transcription Factor, General Medicine, Sex Determination Processes, Sex reversal, medicine.disease, Phenotype, Ovotesticular Disorders of Sex Development, 0104 chemical sciences, Disease Models, Animal, stomatognathic diseases, Endocrinology, Synostosis, Female, Development of the gonads
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ee6afbbddc363cad9f235a89e28b360
https://doi.org/10.1093/hmg/ddaa100 -
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المؤلفون: Vincent R. Harley, Peter Koopman, John M. Hutson, Vincent Corbin, Josephine Bowles, Rajini Sreenivasan, Andrew H. Sinclair, Alexander E. Quinn, Katie L. Ayers, Jacqueline K. Hewitt, Jacqueline Tan, Jocelyn van den Bergen, Brittany Croft, Dung Chi Vu, Thomas Ohnesorg, Emanuele Pelosi, Ingrid M. Knarston, Gorjana Robevska
المصدر: Nature Communications, Vol 9, Iss 1, Pp 1-10 (2018)
Nature Communicationsمصطلحات موضوعية: 0301 basic medicine, endocrine system, animal structures, Science, General Physics and Astronomy, SOX9, Biology, medicine.disease_cause, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, stomatognathic system, Gene duplication, medicine, Disorders of sex development, Enhancer, lcsh:Science, Genetics, Mutation, Multidisciplinary, Sexual differentiation, General Chemistry, Sex reversal, medicine.disease, musculoskeletal system, 030104 developmental biology, Testis determining factor, embryonic structures, lcsh:Q
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المؤلفون: Ee Ting Ng, Enya Longmuss, Emanuele Pelosi, Peter Koopman, Michael A. Weiss, Andrew H. Sinclair, Brittany Croft, Liang Zhao, Thomson E, Yen-Shan Chen, Song X, Rajini Sreenivasan
مصطلحات موضوعية: Gene Editing, Male, Genetically modified mouse, Genetics, HMG-box, Transgene, Male sex determination, Mice, Transgenic, Biology, Sex-Determining Region Y Protein, Mice, Testis determining factor, Protein Domains, Genome editing, Testis, Genetic variation, Animals, Humans, Gene, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11adf4295e95b7edbc95417f64425ea5
https://doi.org/10.1101/2021.03.04.433906 -
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المؤلفون: Brittany Croft, Ann-Charlotte Thuresson, Vincent R. Harley, Carl‐Göran Arvidsson, Yasmin D. Hailer, Eva-Lena Stattin, Gunnar Liminga
المصدر: Clinical Genetics
مصطلحات موضوعية: Fibroblast Growth Factor 9, Male, 0301 basic medicine, Heterozygote, Multiple synostosis syndrome, Adolescent, fusion of interphalangeal joints, Mutation, Missense, Short Report, 030105 genetics & heredity, Biology, SYNS, FGF9, 03 medical and health sciences, Short Reports, Multiple synostoses syndrome, Genetics, Humans, Receptor, Fibroblast Growth Factor, Type 3, Missense mutation, Abnormalities, Multiple, Functional studies, Genetics (clinical), Medicinsk genetik, Radiography, stomatognathic diseases, Phenotype, 030104 developmental biology, Synostosis, multiple synostosis syndrome, Medical Genetics, Protein Binding
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02dcccb2c7c0a3bba689f885b0099a0b
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-428638 -
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المؤلفون: Vincent R. Harley, Gunnar Liminga, Eva-Lena Stattin, Yasmin D. Hailer, Ann-Charlotte Thuresson, Brittany Croft, Carl‐Göran Arvidsson
مصطلحات موضوعية: medicine.medical_specialty, Multiple synostosis syndrome, business.industry, medicine, business, Dermatology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8c1000e57b9b3d6842de490befe6fad5
https://doi.org/10.1111/cge.13880/v2/response1 -
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المؤلفون: Anthony Daniel Bird, Andrew H. Sinclair, Vincent R. Harley, Brittany Croft, Faustine Declosmenil, Peter Koopman, Louisa Mabel Ludbrook, Francis Poulat, Ken McElreavey, Kevin Christopher Knower, Brett Daniel Fisher, Janelle Ryan, Anu Bashamboo, Rajini Sreenivasan
المساهمون: University of Melbourne, Monash University [Victoria, Australia], Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Hudson Institute of Medical Research [Clayton], Génétique du Développement humain - Human developmental genetics, Institut Pasteur [Paris] (IP), Murdoch Children’s Research Institute [Melbourne, Australia], Institute for Molecular Bioscience, University of Queensland [Brisbane], This work was supported by the National Health and Medical Research Council of Australia (NHMRC) Program Grants 334314 and 546517 to V.H., P.K., and A.S. and by the Victorian Government's Operational Infrastructure Support Program (OIS). R.S. was supported by an Australian Postgraduate Award. B.C. is supported by an Australian Government Research Training Program Scholarship, through Monash University. V.H., P.K.. and A.S. are supported by NHMRC Research Fellowships.
المصدر: Human Mutation
Human Mutation, 2018, 39 (12), pp.1861-1874. ⟨10.1002/humu.23603⟩مصطلحات موضوعية: Male, 0301 basic medicine, Steroidogenic factor 1, MESH: Sequence Analysis, DNA, testis-specific enhancer of SOX9, Mutant, sex determination, DSD, Ligands, Steroidogenic Factor 1, medicine.disease_cause, 0302 clinical medicine, MESH: Child, MESH: Ligands, Disorders of sex development, Child, Genetics (clinical), Regulation of gene expression, Genetics, Mutation, MESH: Infant, Newborn, MESH: Disorder of Sex Development, 46,XY, SOX9 Transcription Factor, MESH: Infant, MESH: Gene Expression Regulation, Enhancer Elements, Genetic, Testis determining factor, MESH: HEK293 Cells, Child, Preschool, SF-1, SOX9, Protein Binding, Adult, MESH: Mutation, Adolescent, 030209 endocrinology & metabolism, Biology, MESH: SOX9 Transcription Factor, 03 medical and health sciences, MESH: Computer Simulation, medicine, MESH: Protein Binding, Humans, Computer Simulation, Enhancer, MESH: Adolescent, MESH: Humans, Disorder of Sex Development, 46,XY, MESH: Child, Preschool, Infant, Newborn, Infant, MESH: Adult, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, Sequence Analysis, DNA, MESH: Steroidogenic Factor 1, medicine.disease, MESH: Male, HEK293 Cells, 030104 developmental biology, Gene Expression Regulation, MESH: Enhancer Elements, Genetic
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المؤلفون: Andrew H. Sinclair, Thomas Ohnesorg, Brittany Croft
المصدر: Sexual Development. 12:19-29
مصطلحات موضوعية: 0301 basic medicine, Whole genome sequencing, congenital, hereditary, and neonatal diseases and abnormalities, Embryology, DNA Copy Number Variations, endocrine system diseases, Endocrinology, Diabetes and Metabolism, Disorders of Sex Development, Chromosome Mapping, High-Throughput Nucleotide Sequencing, Computational biology, Regulatory Sequences, Nucleic Acid, Biology, medicine.disease, Open Reading Frames, 03 medical and health sciences, 030104 developmental biology, mental disorders, medicine, Humans, Disorders of sex development, Copy-number variation, Genetic diagnosis, Gene, Developmental Biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::703f6ec563ce2be06c882734023cc2b1
https://doi.org/10.1159/000481896