المؤلفون: Nathalia G B P Ferreira, Joao L O Madeira, Peter Gergics, Renata Kertsz, Juliana M Marques, Nicholas S S Trigueiro, Anna Flavia Figueredo Benedetti, Bruna V Azevedo, Bianca H V Fernandes, Debora D Bissegatto, Isabela P Biscotto, Qing Fang, Qianyi Ma, Asye B Ozel, Jun Li, Sally A Camper, Alexander A L Jorge, Berenice B Mendonça, Ivo J P Arnhold, Luciani R Carvalho

المصدر: Endocrine Connections, Vol 12, Iss 8, Pp 1-12 (2023)

مصطلحات موضوعية: whole exome sequencing, cell adhesion, growth insufficiency, cdh2, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

العلاقة: https://ec.bioscientifica.com/view/journals/ec/12/8/EC-22-0473.xmlTest; https://doaj.org/toc/2049-3614Test

الوصول الحر: https://doaj.org/article/61bdf034805c413e97b2ca2ea28e0932Test

المؤلفون: Elizabeth J. Adams, Rami Khoriaty, Anna Kiseleva, Audrey C. A. Cleuren, Kärt Tomberg, Martijn A. van der Ent, Peter Gergics, Vi T. Tang, Guojing Zhu, Mark J. Hoenerhoff, K. Sue O’Shea, Thomas L. Saunders, David Ginsburg

المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2045-2322Test

الوصول الحر: https://doaj.org/article/4bcbdf66d6ff48cf95ab2150fccf4a2bTest

المؤلفون: Rami Khoriaty, Anna Kiseleva, Thomas L. Saunders, Vi T. Tang, Guojing Zhu, Peter Gergics, Audrey C. A. Cleuren, Mark J. Hoenerhoff, Elizabeth J. Adams, Kärt Tomberg, David Ginsburg, K. Sue O'Shea, Martijn A. van der Ent

المصدر: Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)

مصطلحات موضوعية: Multidisciplinary, Science, Recombinase-mediated cassette exchange, Genetic Complementation Test, Embryogenesis, Vesicular Transport Proteins, Embryonic Development, Mice, Transgenic, Coat complexes, Biology, Embryonic stem cell, Article, Transmembrane protein, Cell biology, Mice, Medicine, Animals, Coding region, Allele, Gene, COPII, Endoplasmic reticulum

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbaa1bb7b592a33a7326874be5f61d5cTest
https://doi.org/10.1038/s41598-021-00579-xTest

المؤلفون: Thierry Brue, Jacob O. Kitzman, Frédérique Albarel, Cathy Smith, Julian Martinez Mayer, Hironori Bando, Peter Gergics, Mariam Maksutova, Debora Braslavsky, Julia Hoppmann, Sebastián Alexis Vishnopolska, Rami Abou Jamra, Qianyi Ma, Ignacio Bergadá, Berenice B. Mendonca, Frederic Castinetti, Sally A. Camper, Qing Fang, Marilena Nakaguma, Alexander A. L. Jorge, María Inés Pérez Millán, Ivo J.P. Arnhold, Michael H. Guo, Ana Keselman, Anne Barlier, Luciani R. Carvalho, A. Bilge Ozel, Roland Pfaeffle, Sajini Jayakody, Denise Rockstroh-Lippold, Andrew Dauber, Jun Li, Alexandru Saveanu, Marcelo A. Martí

المساهمون: University of Michigan [Ann Arbor], University of Michigan System, Universidade de São Paulo = University of São Paulo (USP), University Hospital Leipzig, Universidad de Buenos Aires [Buenos Aires] (UBA), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Marseille Maladies Rares (MarMaRa), Aix Marseille Université (AMU), Service d'endocrinologie, diabète, maladies métaboliques [Hôpital de la Conception - APHM], University of Luebeck, Hospital de Niños 'Ricardo Gutiérrez', Laboratoire de Biochimie et de Biologie Moléculaire [Hôpital de la Conception - APHM], Hôpital de la Conception [CHU - APHM] (LA CONCEPTION), Leipzig University, West Chester University of Pennsylvania (WCUPA), National Children's Hospital, National Institutes of Health (R01HD097096to SAC, R01GM129123 to JOK), the Japan Society for Promotion of Science (HB), Grant 2013/03236-5 from the São Paulo Research Foundation (FAPESP) (IJPA), a grant from Pfizer (RP), and the Argentinean National Agency of Scientific and Technical Promotion, PICT 2016-2913 and PICT 2017-0002 (MIPM), Universidade de São Paulo (USP), University of Leipzig Medical Center, Gall, Valérie

المصدر: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2021, 108 (8), pp.1526-1539. ⟨10.1016/j.ajhg.2021.06.013⟩
Am J Hum Genet

مصطلحات موضوعية: Adult, Male, Gene isoform, growth hormone deficiency, PIT-1, variants of uncertain significance, Adolescent, RNA Splicing, [SDV]Life Sciences [q-bio], Repressor, 030209 endocrinology & metabolism, [SDV.GEN] Life Sciences [q-bio]/Genetics, Biology, Article, Growth hormone deficiency, 03 medical and health sciences, alternative splicing, 0302 clinical medicine, multiplexed assays of variant effects, Genetics, medicine, Humans, Missense mutation, splice, transcriptional regulation, Child, massively parallel splicing assay, Genetics (clinical), Loss function, 030304 developmental biology, 0303 health sciences, [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Alternative splicing, medicine.disease, High-Throughput Screening Assays, Pedigree, [SDV] Life Sciences [q-bio], Pituitary Hormones, hypopituitarism, Child, Preschool, Mutation, RNA splicing, Transcription Factor Pit-1, General Economics, Econometrics and Finance, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e3a2583e4d44ed020745730261e348eTest
https://hal-amu.archives-ouvertes.fr/hal-03293410/documentTest

المؤلفون: Jacob O. Kitzman, Frederic Castinetti, Andrew Dauber, Julia Hoppmann, Ana Keselman, I J P Arnhold, Luciani R. Carvalho, Alexandru Saveanu, Denise Rockstroh-Lippold, Rami Abou Jamra, Jun Li, Alexander A. L. Jorge, Anne Barlier, Qing Fang, Sebastián Alexis Vishnopolska, Cathy Smith, Debora Braslavsky, Ignacio Bergadá, A. Bilge Ozel, Hironori Bando, Thierry Brue, Sally A. Camper, Frédérique Albarel, Peter Gergics, Julian Martinez Mayer, Marilena Nakaguma, María Inés Pérez Millán, Qianyi Ma, Roland Pfaeffle, Marcelo A. Martí, Berenice B. Mendonca, Mariam Maksutova, Michael H. Guo

مصطلحات موضوعية: Genetics, Gene isoform, RNA splicing, medicine, Repressor, Missense mutation, splice, Hypopituitarism, Biology, medicine.disease, Gene, Loss function

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::902e1f4c3904140e4d8b2e8f7b772631Test
https://doi.org/10.1101/2021.02.04.21249469Test

المؤلفون: Anna Flavia Figueredo Benedetti, Michele Moreira Poina, Mohamad Maghnie, Ivo J.P. Arnhold, Mehul T. Dattani, Hironori Bando, Mark J. McCabe, Qing Fang, Berenice B. Mendonca, Marilena Nakaguma, Alexander A. L. Jorge, Ayse Bilge Ozel, Louise C. Gregory, Antonio M. Lerario, Giuseppa Patti, Sally A. Camper, Luciani R. Carvalho, Peter Gergics, Qianyi Ma, Jun Li

المصدر: European Journal of Endocrinology

مصطلحات موضوعية: Male, Pathology, Endocrinology, Diabetes and Metabolism, Adolescent, Animals, Animals, Genetically Modified, Brazil, Cell Line, Child, Child, Preschool, Cohort Studies, Female, Humans, Hypopituitarism, Hypothalamus, Infant, Mice, Microphthalmos, Mutation, Neurons, Otx Transcription Factors, Pedigree, Pituitary Gland, Septo-Optic Dysplasia, United Kingdom, medicine.disease_cause, 0302 clinical medicine, Endocrinology, Missense mutation, General Medicine, Phenotype, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Haploinsufficiency, medicine.medical_specialty, 030209 endocrinology & metabolism, Genetically Modified, Biology, 03 medical and health sciences, Anterior pituitary, Posterior pituitary, Internal medicine, medicine, Preschool, Anophthalmia, medicine.disease, eye diseases, Clinical Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3575fa9e5e8aa52f70ccabc922e4273Test
http://hdl.handle.net/11567/1057642Test

المؤلفون: Hironori Bando, Jun Li, Thierry Brue, Peter Gergics, Amanda H. Mortensen, Ayse Bilge Ozel, Frederic Castinetti, Qianyi Ma, Michelle L. Brinkmeier, Sally A. Camper

المصدر: Journal of the Endocrine Society

مصطلحات موضوعية: Neuroendocrinology and Pituitary, Endocrinology, Diabetes and Metabolism, embryonic structures, sense organs, Biology, Hypothalamic-Pituitary Development and Function, Neuroscience, AcademicSubjects/MED00250

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f03a6e681761be17a8273d79190acb03Test
http://europepmc.org/articles/PMC7207704Test

المؤلفون: Giuseppa Patti, Mohamad Maghnie, Mehul T. Dattani, Mark J. McCabe, Peter Gergics, Emanuela Spadoni, Sally A. Camper, Louise C. Gregory

المصدر: Journal of the Endocrine Society

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Neuroendocrinology and Pituitary, business.industry, Endocrinology, Diabetes and Metabolism, medicine, Congenital hypopituitarism, sense organs, Hypothalamic-Pituitary Development and Function, medicine.disease, business, eye diseases, AcademicSubjects/MED00250

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea1c3594dfddaece93e1efb53364012dTest
http://europepmc.org/articles/PMC7207633Test

المؤلفون: Berenice B. Mendonca, Jun Li, Alexander A. L. Jorge, Ivo J.P. Arnhold, Peter Gergics, Luciani R. Carvalho, Bilge A. Ozel, Renata Kertsz, Sally A. Camper, Anna Flavia Figueredo Benedetti, Qing Fang, Nathalia Garcia Bianchi Pereira Ferreira, Joao Luiz do Oliveira Madeira, Qianyi Ma, Isabela Peixoto Biscotto

المصدر: Journal of the Endocrine Society

مصطلحات موضوعية: Genetics, Neuroendocrinology and Pituitary, Recessive inheritance, business.industry, Endocrinology, Diabetes and Metabolism, Medicine, Congenital hypopituitarism, Hypothalamic-Pituitary Development and Function, business, medicine.disease, Exome sequencing, AcademicSubjects/MED00250

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb2263cc1dbff4cc42392742566cf2eeTest
http://europepmc.org/articles/PMC7208499Test

المؤلفون: Peter, Gergics

المصدر: Experientia supplementum (2012). 111

مصطلحات موضوعية: Mice, Pituitary Gland, Holoprosencephaly, Mutation, Animals, Humans, Hypopituitarism, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::7e9d8ef4ba7e5744fb4a74895efda51bTest
https://pubmed.ncbi.nlm.nih.gov/31588536Test