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1
المؤلفون: Michael J. Sweeting, D. Cooper, Clare Oliver-Williams, G. Turton, C. Rodd, J.J. Earnshaw, D. Parkin, Simon G. Thompson
المصدر: British Journal of Surgery. 105:68-74
مصطلحات موضوعية: Male, Gynecology, medicine.medical_specialty, Models, Statistical, business.industry, 030204 cardiovascular system & hematology, 030230 surgery, United Kingdom, 03 medical and health sciences, 0302 clinical medicine, Family medicine, Disease Progression, Prevalence, cardiovascular system, Humans, Mass Screening, Medicine, Surgery, Population screening, business, Aged, Aortic Aneurysm, Abdominal, Follow-Up Studies, Ultrasonography, Trust fund
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2
المؤلفون: J. P. G. Turton, K. N. Humayun, Mark J. McCabe, Simon J. Rhodes, Louise C. Gregory, Mehul T. Dattani
المصدر: The Journal of Clinical Endocrinology & Metabolism. 100:2158-2164
مصطلحات موضوعية: Male, Models, Molecular, medicine.medical_specialty, Pituitary gland, dbSNP, Perinatal Death, Endocrinology, Diabetes and Metabolism, LIM-Homeodomain Proteins, Clinical Biochemistry, Mutation, Missense, Genes, Recessive, Hypopituitarism, Biology, Bioinformatics, Biochemistry, symbols.namesake, Endocrinology, Internal medicine, medicine, Humans, Missense mutation, Exome, Genetics, Sanger sequencing, Base Sequence, Siblings, Biochemistry (medical), Infant, Newborn, Heterozygote advantage, Special Features, medicine.disease, Pedigree, Ectopic Posterior Pituitary, HEK293 Cells, medicine.anatomical_structure, symbols, Female, Genes, Lethal, Transcription Factors
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f3f356fbe84f1f2bf6598bb70aadff2
https://doi.org/10.1210/jc.2014-4484 -
3
المؤلفون: Rodrigo M. Young, Mark J. McCabe, Sara Pozzi, Bradley J. Merrill, James P. G. Turton, Valeria Scagliotti, Basudha Basu, Gabriela Carreno, Carles Gaston-Massuet, Markela Koniordou, Chun I. Wu, Federica Graziola, Elisa Rahikkala, Tuija Löppönen, Mehul T. Dattani, Massimo Signore, Sujatha A. Jayakody, Seyedeh Neda Mousavy Gharavy, Louise C. Gregory, Angelica Gualtieri, Sergei Y. Sokol, Riitta Veijola, Rodrigo E Bancalari, Juan Pedro Martinez-Barbera, Stephen W. Wilson, Cynthia L. Andoniadou, Nicoletta Charolidi
المصدر: Gaston-Massuet, C, McCabe, M J, Scagliotti, V, Young, R M, Carreno, G, Gregory, L C, Jayakody, S A, Pozzi, S, Gualtieri, A, Basu, B, Koniordou, M, Wu, C-I, Bancalari, R E, Rahikkala, E, Veijola, R, Lopponen, T, Graziola, F, Turton, J, Signore, M, Mousavy Gharavy, S N, Charolidi, N, Sokol, S Y, Andoniadou, C L, Wilson, S W, Merrill, B J, Dattani, M T & Martinez-Barbera, J P 2016, ' Transcription factor 7-like 1 is involved in hypothalamo-pituitary axis development in mice and humans ', Proceedings of the National Academy of Sciences of the United States of America . https://doi.org/10.1073/pnas.1503346113
مصطلحات موضوعية: 0301 basic medicine, Hypothalamo-Hypophyseal System, Pituitary gland, medicine.medical_specialty, Transcription Factor 7-Like 1 Protein, Hypopituitarism, Biology, Cohort Studies, Mice, 03 medical and health sciences, Prosencephalon, Internal medicine, medicine, Animals, Humans, education, Transcription factor, education.field_of_study, Multidisciplinary, Transcription Factor 7, Wnt signaling pathway, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, Endocrinology, PNAS Plus, Hypothalamus, Pituitary Gland, Forebrain
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::489990bf9fe05fbe0256ad9326da327c
https://kclpure.kcl.ac.uk/en/publications/7ce20e71-c58a-4587-a3ad-c31ad2845f63 -
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المؤلفون: James P. G. Turton, Mehul T. Dattani, P. Le Tissier, Molly Strom, S. Langham
المصدر: Clinical Endocrinology. 76:387-393
مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Point mutation, Biology, Compound heterozygosity, Null allele, Prolactin, Exon, Endocrinology, medicine.anatomical_structure, Anterior pituitary, Internal medicine, medicine, Gene, Loss function
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5
المؤلفون: Ameeta Mehta, Hiten Mehta, James P. G. Turton, Wui K. Chong, Peter C. Hindmarsh, David Taylor, Mehul T. Dattani, Isabelle Russell-Eggitt
المصدر: Clinical Endocrinology. 71:376-382
مصطلحات موضوعية: Male, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Hypopituitarism, Growth hormone deficiency, Cohort Studies, DOT 5, Endocrinology, DOT 3, Internal medicine, medicine, Humans, Child, Retrospective Studies, Optic nerve hypoplasia, business.industry, Optic Nerve, medicine.disease, Magnetic Resonance Imaging, Growth hormone secretion, Radiography, Diabetes insipidus, IGHD, Female, business
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المؤلفون: Andrée Eblé, Didier Lochmatter, James P. G. Turton, Peter E. Clayton, Primus E. Mullis, Mehul T. Dattani, Iain C. A. F. Robinson, Peter J Trainer, Vibor Petkovic, Christa E. Flück
المصدر: The Journal of Clinical Endocrinology & Metabolism. 92:4427-4435
مصطلحات موضوعية: Adult, Male, Gene isoform, medicine.medical_specialty, Adolescent, Cell Survival, Endocrinology, Diabetes and Metabolism, Blotting, Western, Genetic Vectors, Clinical Biochemistry, Mutant, Golgi Apparatus, Chromosome Disorders, Biology, Endoplasmic Reticulum, Biochemistry, Exon, Endocrinology, Internal medicine, medicine, Humans, Protein Isoforms, splice, RNA, Messenger, Enhancer, Gene, Cells, Cultured, Cell Proliferation, Genes, Dominant, Microscopy, Confocal, Human Growth Hormone, Secretory Vesicles, Colforsin, Biochemistry (medical), Exons, Molecular biology, Body Height, Pedigree, Mutation, RNA splicing, IGHD, Female
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83e3c451753ee1ad629cb24e6b5a2e05
https://doi.org/10.1210/jc.2007-0857 -
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المؤلفون: Nele Haufs, James P. G. Turton, Anastasios Papadimitriou, David E. G. McNay, Daniel Kelberman, Stephen M Shalet, Kathryn S. Woods, Heiko Krude, Eberhard Keller, A. Keller, Mehul T. Dattani, Raja Brauner
المصدر: The Journal of Clinical Endocrinology & Metabolism. 92:691-697
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pathology, Endocrinology, Diabetes and Metabolism, Molecular Sequence Data, Clinical Biochemistry, Context (language use), CHO Cells, Hypopituitarism, Biology, medicine.disease_cause, Biochemistry, Genetic analysis, Cricetulus, Endocrinology, Septo-Optic Dysplasia, Cricetinae, Internal medicine, medicine, Animals, Humans, Point Mutation, Polymorphism, Single-Stranded Conformational, Homeodomain Proteins, Mutation, Optic nerve hypoplasia, Base Sequence, Point mutation, Biochemistry (medical), Infant, Newborn, Optic Nerve, Septo-optic dysplasia, medicine.disease, Pedigree, Phenotype, Dysplasia, Pituitary Gland, Female, Maternal Age
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6650e332eb141876224b36c5c55497c6
https://doi.org/10.1210/jc.2006-1609 -
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المؤلفون: Mehul T. Dattani, Ameeta Mehta, Michael A. Preece, James P. G. Turton, Tim J Cole, Richard Stanhope, Peter C. Hindmarsh
المصدر: Clinical Endocrinology. 63:223-231
مصطلحات موضوعية: Male, medicine.medical_specialty, Pituitary gland, Endocrinology, Diabetes and Metabolism, Birth weight, Thyrotropin, Hypopituitarism, Models, Biological, Group A, Group B, Child Development, Endocrinology, Adrenocorticotropic Hormone, Internal medicine, medicine, Birth Weight, Body Size, Humans, Retrospective Studies, Human Growth Hormone, business.industry, Infant, Newborn, Brain, Infant, Delivery, Obstetric, medicine.disease, Body Height, Pituitary Hormones, medicine.anatomical_structure, Mutation, IGHD, Female, Congenital Growth Hormone Deficiency, Adrenocorticotropic hormone deficiency, business
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المؤلفون: M. Eunice, Paul Q. Thomas, James P. G. Turton, Jerzy Starzyk, Ariachery C. Ammini, Jamal Raza, Pierre Bouloux, Ameeta Mehta, Joseph Cassar, Anatoly Tiulpakov, Kling Chong, Mehul T. Dattani, Kathryn S. Woods, Peter C. Hindmarsh
المصدر: Clinical Endocrinology. 63:10-18
مصطلحات موضوعية: Adult, Male, Hypothalamo-Hypophyseal System, endocrine system, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Pituitary-Adrenal System, Hypopituitarism, Biology, medicine.disease_cause, Cohort Studies, Endocrinology, Polymorphism (computer science), Internal medicine, medicine, Humans, Endocrine system, Involution (medicine), Family history, Child, Family Health, Homeodomain Proteins, Genetics, Mutation, Polymorphism, Genetic, Infant, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Phenotype, Child, Preschool, Cohort, Female, Transcription Factors
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المؤلفون: Iain C. A. F. Robinson, Mehul T. Dattani, Juan Pedro Martinez-Barbera, Karen Woodward, Paul Q. Thomas, Karine Rizotti, Robin Lovell-Badge, Mahmoud Al-Zyoud, Maria Cundall, Maryam El-Ali, Ameeta Mehta, Jacqueline Wong, Kathryn S. Woods, James P. G. Turton, Rodger Palmer, Timo Otonkoski, Wui K. Chong
المصدر: The American Journal of Human Genetics. 76(5):833-849
مصطلحات موضوعية: Male, medicine.medical_specialty, Pituitary gland, Adolescent, Molecular Sequence Data, 030209 endocrinology & metabolism, Hypopituitarism, Choristoma, Gene mutation, Biology, Growth hormone deficiency, Infundibulum, 03 medical and health sciences, 0302 clinical medicine, Pituitary Gland, Posterior, Pituitary Gland, Anterior, Gene Duplication, Internal medicine, medicine, Genetics, Humans, Genetics(clinical), Child, Genetics (clinical), 030304 developmental biology, Chromosomes, Human, X, 0303 health sciences, Polymorphism, Genetic, Base Sequence, Human Growth Hormone, SOXB1 Transcription Factors, High Mobility Group Proteins, Infant, Septo-optic dysplasia, Articles, medicine.disease, Hypoplasia, Pedigree, Ectopic Posterior Pituitary, DNA-Binding Proteins, Phenotype, Endocrinology, medicine.anatomical_structure, Child, Preschool, Mutation, Transcription Factors
وصف الملف: application/octet-stream
