نتائج البحث - "genomic disorders"

1

Genome diversity and instability in human germ cells and preimplantation embryos

المؤلفون: Miya Kudo Høffding, Eva Hoffmann, Vallari Shukla

المصدر: Shukla, V, Høffding, M K & Hoffmann, E R 2021, ' Genome diversity and instability in human germ cells and preimplantation embryos ', Seminars in Cell and Developmental Biology, vol. 113, pp. 132-147 . https://doi.org/10.1016/j.semcdb.2020.12.007Test
Seminars in Cell & Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::993ccc5178d17c191d6f8a25e2f2ca12Test
https://doi.org/10.1016/j.semcdb.2020.12.007Test

2

Chromosome Transplantation: A Possible Approach to Treat Human X-linked Disorders

المؤلفون: Elena Caldana, Marianna Paulis, Takahiko Hara, Alessandra Castelli, Paolo Vezzoni, Stefano Mantero, Letizia Straniero, Lucia Sergi Sergi, Stefano Duga, Anna Villa, Lucia Susani, Teruhiko Suzuki, Dario Strina

المصدر: Molecular Therapy. Methods & Clinical Development
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss, Pp 369-377 (2020)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b471f95de550c0d42cc86fcb06387b92Test
https://doi.org/10.1016/j.omtm.2020.01.003Test

3

Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation

المؤلفون: Catherine J. Chu, Naomi Meeks, Feyza Yilmaz, Yulia Mostovoy, Chin Lin, Pui-Yan Kwok, Curtis R. Coughlin, Elizabeth A. Geiger, Tamim H. Shaikh, Stephen K. Chow, Urvashi Surti, Kathryn C. Chatfield

المساهمون: Shendure, J

المصدر: Genetics, vol 217, iss 2
Genetics

مصطلحات موضوعية: Heart Defects, Congenital, Williams Syndrome, Developmental Disabilities, Population, Locus (genetics), Chromosome Disorders, Biology, Chromosomes, Structural variation, Craniofacial Abnormalities, 03 medical and health sciences, Congenital, Chromosome Breakpoints, Segmental Duplications, Genomic, 0302 clinical medicine, Gene mapping, Seizures, Intellectual Disability, Genotype, Genetics, Humans, 2.1 Biological and endogenous factors, Aetiology, Repeated sequence, education, genomic disorders, segmental duplications, 030304 developmental biology, Segmental duplication, Heart Defects, Investigation, Chromosomes, Human, Pair 15, 0303 health sciences, education.field_of_study, Pair 16, Mental Disorders, Breakpoint, Human Genome, Pair 15, structural variation, 030220 oncology & carcinogenesis, Genomic Structural Variation, Genomic, genome mapping, Chromosome Deletion, Chromosomes, Human, Pair 16, Human, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0eaeab5762aa68104935b8aa68d68d4eTest
https://escholarship.org/uc/item/15562671Test

4

A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings

المؤلفون: Brittany Grommisch, Michele Spencer-Manzon, Qinghua Zhou, Peining Li, James L. McGrath, Allen E. Bale, Hongyan Chai, Maurice J. Mahoney, Jiadi Wen, Fang Xu, Hui Zhang, Autumn DiAdamo

المصدر: Frontiers in Genetics
Frontiers in Genetics, Vol 10 (2019)

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Down syndrome, pathogenic copy number variants, lcsh:QH426-470, Population, 03 medical and health sciences, 0302 clinical medicine, microdeletions and microduplications, DiGeorge syndrome, Turner syndrome, Genetics, medicine, diagnostic accuracy and efficacy, Copy-number variation, prenatal and pediatric diagnosis, education, Genetics (clinical), Original Research, Fetus, education.field_of_study, medicine.diagnostic_test, business.industry, recurrent genomic disorders, medicine.disease, relative frequency, lcsh:Genetics, chromosomal abnormalities, 030104 developmental biology, 030220 oncology & carcinogenesis, Molecular Medicine, abnormality detection rate, business, Fluorescence in situ hybridization, Comparative genomic hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46a0e89ec6d6e5493ca4359bb6826d1eTest
https://doi.org/10.3389/fgene.2019.01162Test

5

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes

المصدر: Clinical Genetics. 92:415-422

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Candidate gene, Adolescent, DNA Copy Number Variations, Developmental Disabilities, CNV, autism spectrum disorder, Biology, Chromosomal Position Effects, Young Adult, 03 medical and health sciences, Intellectual disability, Genetics, medicine, Humans, Copy-number variation, Child, genomic disorders, Gene, Genetic Association Studies, Genetics (clinical), Sequence Deletion, Chromosome Aberrations, Comparative Genomic Hybridization, array-CGH, developmental delay, intellectual disability, Infant, Genomics, medicine.disease, Phenotype, Pedigree, DNA-Binding Proteins, 030104 developmental biology, Autism spectrum disorder, Child, Preschool, Cohort, Female, Rare disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39a801c78f604f6776fe5565bea502f4Test
https://doi.org/10.1111/cge.13009Test

6

The copy number variation landscape of congenital anomalies of the kidney and urinary tract

المؤلفون: Adele Mitrotti, David Fasel, Nan Wu, Joanna A.E. van Wijk, Monica Bodria, Jeremiah Martino, Alejandra Perez, Marcin Tkaczyk, Loreto Gesualdo, Katarzyna Zachwieja, Marcin Zaniew, Giorgio Piaggio, Miguel Verbitsky, Brynn Levy, Virginia E. Papaioannou, Zoran Gucev, Marijan Saraga, Piotr Adamczyk, David E. Barton, Velibor Tasic, Craig S. Wong, Maria Szczepańska, Rik Westland, Valeria Manca, Jun Zhang, Alba Carrea, Fangming Lin, Robert Pawluch, Pasquale Casale, Landino Allegri, Krzysztof Kiryluk, Matthew G. Sampson, Daniele Cusi, Charlly Kao, Max Werth, Shumyle Alam, Young Ji Na, Claudia Izzi, Isabella Pisani, Mark G Dobson, Grażyna Krzemień, Giovanni Conti, Dorota Drozdz, John M Darlow, Shirlee Shril, Patricia L. Weng, Tze Y Lim, Friedhelm Hildebrandt, Monika Miklaszewska, Giuseppe Masnata, Domenico Santoro, Ana Cristina Simões-e-Silva, Byum Hee Kil, Cathy Mendelsohn, Hakon Hakonarson, Przemysław Sikora, Anna Latos-Bielenska, Simone Sanna-Cherchi, Josep M. Campistol, Anna Krakowska, Cécile Jeanpierre, Pasquale Zamboli, Débora Marques de Miranda, Hope White, Francesco Scolari, Dina Ahram, Ekaterina Batourina, Anna Materna-Kiryluk, Valentina P Capone, Eduardo A. Oliveira, Maddalena Marasa, Tomasz Jarmoliński, Jonathan Barasch, Asaf Vivante, Prem Puri, Ali G. Gharavi, Feng Zhang, Priya Krithivasan, Małgorzata Mizerska-Wasiak, Erin L. Heinzen, Maria K Borszewska-Kornacka, Lida Rodas, Bradley A. Warady, Maddalena Gigante, Agnieszka Szmigielska, Qingxue Liu, Susan L. Furth, Vladimir J Lozanovski, Gian Marco Ghiggeri, Daria Tomczyk

المساهمون: Amsterdam Reproduction & Development (AR&D), ACS - Microcirculation, Paediatric Nephrology

المصدر: Nature genetics
51 (2019): 117–+. doi:10.1038/s41588-018-0281-y
info:cnr-pdr/source/autori:Verbitsky, Miguel; Westland, Rik; Perez, Alejandra; Kiryluk, Krzysztof; Liu, Qingxue; Krithivasan, Priya; Mitrotti, Adele; Fasel, David A.; Batourina, Ekaterina; Sampson, Matthew G.; Bodria, Monica; Werth, Max; Kao, Charlly; Martino, Jeremiah; Capone, Valentina P.; Vivante, Asaf; Shril, Shirlee; Kil, Byum Hee; Marasa, Maddalena; Zhang, Jun Y.; Na, Young-Ji; Lim, Tze Y.; Ahram, Dina; Weng, Patricia L.; Heinzen, Erin L.; Carrea, Alba; Piaggio, Giorgio; Gesualdo, Loreto; Manca, Valeria; Masnata, Giuseppe; Gigante, Maddalena; Cusi, Daniele; Izzi, Claudia; Scolari, Francesco; van Wijk, Joanna A. E.; Saraga, Marijan; Santoro, Domenico; Conti, Giovanni; Zamboli, Pasquale; White, Hope; Drozdz, Dorota; Zachwieja, Katarzyna; Miklaszewska, Monika; Tkaczyk, Marcin; Tomczyk, Daria; Krakowska, Anna; Sikora, Przemyslaw; Jarmolinski, Tomasz; Borszewska-Kornacka, Maria K.; Pawluch, Robert; Szczepanska, Maria; Adamczyk, Piotr; Mizerska-Wasiak, Malgorzata; Krzemien, Grazyna; Szmigielska, Agnieszka; Zaniew, Marcin; Dobson, Mark G.; Darlow, John M.; Puri, Prem; Barton, David E.; Furth, Susan L.; Warady, Bradley A.; Gucev, Zoran; Lozanovski, Vladimir J.; Tasic, Velibor; Pisani, Isabella; Allegri, Landino; Rodas, Lida M.; Campistol, Josep M.; Jeanpierre, Cecile; Alam, Shumyle; Casale, Pasquale; Wong, Craig S.; Lin, Fangming; Miranda, Debora M.; Oliveira, Eduardo A.; Simoes-e-Silva, Ana Cristina; Barasch, Jonathan M.; Levy, Brynn; Wu, Nan; Hildebrandt, Friedhelm; Ghiggeri, Gian Marco; Latos-Bielenska, Anna; Materna-Kiryluk, Anna; Zhang, Feng; Hakonarson, Hakon; Papaioannou, Virginia E.; Mendelsohn, Cathy L.; Gharavi, Ali G.; Sanna-Cherchi, Simone/titolo:The copy number variation landscape of congenital anomalies of the kidney and urinary tract/doi:10.1038%2Fs41588-018-0281-y/rivista:Nature genetics (Print)/anno:2019/pagina_da:117/pagina_a:+/intervallo_pagine:117–+/volume:51
Volume 51
Issue 1
Nature Genetics, 51(1), 117-127. Nature Publishing Group
Nature genetics, 51(1), 117-127. Nature Publishing Group

مصطلحات موضوعية: Male, BIOMEDICINE AND HEALTHCARE. Clinical Medical Sciences, endocrine system diseases, Kidney, 0302 clinical medicine, Copy-number variation, deletion, Urinary Tract, Obstructive uropathy, Genetics, 0303 health sciences, BIOMEDICINA I ZDRAVSTVO. Kliničke medicinske znanosti, Genomics, digeorge-syndrome, Microdeletion syndrome, 3. Good health, medicine.anatomical_structure, Female, vitamin-a, branching morphogenesis, Chromosome Deletion, candidate genes, renal replacement therapy, congenital, hereditary, and neonatal diseases and abnormalities, DNA Copy Number Variations, Urinary system, Locus (genetics), Biology, Vesicoureteral reflux, Article, 03 medical and health sciences, mental disorders, medicine, Humans, Genetic Predisposition to Disease, genomic disorders, 030304 developmental biology, Vesico-Ureteral Reflux, disease, Extramural, rare variants, medicine.disease, mutations, Urogenital Abnormalities, 030217 neurology & neurosurgery, Genome-Wide Association Study

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a48219869787b36614865b1a53822277Test
https://ruj.uj.edu.pl/xmlui/handle/item/108818Test

7

Significant transcriptional changes in 15q duplication but not Angelman syndrome deletion stem cell-derived neurons

المؤلفون: Lawrence T. Reiter, Kevin A. Hope, Nora Urraca, T. Grant Belgard, Juanma Ramirez, Dave Bridges, Quynh T. Tran, Colleen Valdez, A. Kaitlyn Victor, Sarita Goorha, Silvia Sánchez, Rawaha Memon, Martin Donaldson

المصدر: Molecular Autism, Vol 9, Iss 1, Pp 1-16 (2018)
Molecular Autism

مصطلحات موضوعية: 0301 basic medicine, Ubiquitin-Protein Ligases, Autism, Trisomy, Stem cells, Biology, Dup15q, medicine.disease_cause, lcsh:RC346-429, mRNAseq, Transcriptome, 03 medical and health sciences, 0302 clinical medicine, Neural Stem Cells, Developmental Neuroscience, Neurogenetic syndrome, Gene duplication, Gene expression, Basic Helix-Loop-Helix Transcription Factors, medicine, UBE3A, Guanine Nucleotide Exchange Factors, Humans, Molecular Biology, Gene, Cells, Cultured, Dental Pulp, lcsh:Neurology. Diseases of the nervous system, Genetics, Chromosomes, Human, Pair 15, Genomic disorders, Mutation, Forkhead Box Protein O1, Research, Nuclear Receptor Subfamily 1, Group F, Member 1, Phenotype, Psychiatry and Mental health, 030104 developmental biology, Angelman Syndrome, Chromosome Deletion, 030217 neurology & neurosurgery, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9b8734232b423ad8edf14676c7b3dccTest
https://doi.org/10.1186/s13229-018-0191-yTest

8

Identification of novel candidate disease genes from de novo exonic copy number variants

المؤلفون: Christian P. Schaaf, Janice L. Smith, Rachel Westman, Ronit Marom, Laurence Faivre, Pawel Stankiewicz, Patricia I. Bader, Myla Ashfaq, Hsiao-Tuan Chao, Monica Proud, Hope Northrup, Lindsay E. Elton, Seema R. Lalani, Yaping Yang, Chester W. Brown, Kimberly Nugent, Lauren Dengle, James R. Lupski, Sandesh C.S. Nagamani, Heather G. Petrie, Bo Yuan, Robert Wildin, Carlos A. Bacino, Chad A. Shaw, Tomasz Gambin, Hannele Koillinen, La Donna Immken, Edward P. Buchanan, Zeynep Coban-Akdemir, Ankita Patel, Lisa Emrick, Diane Treadwell-Deering, Anita E. Beck, Nora Urraca, Sau Wai Cheung, Elizabeth Roeder, Amy M. Breman, Mathilde Lefebvre, Arthur L. Beaudet, Amber N. Pursley, Gary Bellus, Sung Hae L. Kang, Sailaja Golla, Jill A. Rosenfeld, Reuben Matalon, Michael P. Cummings, Pengfei Liu, Roya Mostafavi, Saunder Bernes, Shaun Varghese, Magdalena Walkiewicz, Weimin Bi

المساهمون: Department of Medical and Clinical Genetics, Medicum, Clinicum

المصدر: Genome Medicine
Genome Medicine, Vol 9, Iss 1, Pp 1-15 (2017)

مصطلحات موضوعية: 0301 basic medicine, INTELLECTUAL DISABILITY, lcsh:Medicine, Serine-Threonine Kinase 3, Cohort Studies, CHROMOSOMAL MICROARRAY, Copy-number variation, de novo variants, Genetics (clinical), Genetics, education.field_of_study, Intracellular Signaling Peptides and Proteins, 1184 Genetics, developmental biology, physiology, Exons, 3. Good health, Exon targeted array CGH, Molecular Medicine, Intragenic copy number variants, DNA microarray, lcsh:QH426-470, DNA Copy Number Variations, Population, ARRAY CGH, Protein Serine-Threonine Kinases, Biology, COGNITIVE PHENOTYPES, GENOMIC DISORDERS, 03 medical and health sciences, MENDELIAN DISORDERS, Humans, CLINICAL DIAGNOSTIC-TEST, education, Molecular Biology, Gene, PERSISTENT GASTROESOPHAGEAL-REFLUX, Retrospective Studies, Homeodomain Proteins, CNVs, Whole genome sequencing, Autosome, Whole Genome Sequencing, Genome, Human, Research, AUTISM SPECTRUM DISORDER, SYNDROMIC DEVELOPMENTAL DELAY, lcsh:R, Genetic Diseases, Inborn, Membrane Proteins, Human genetics, lcsh:Genetics, 030104 developmental biology, Neurodevelopmental Disorders, Human genome, 3111 Biomedicine, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6841ce88eed7ab54836bbf1749248db4Test
https://doi.org/10.1186/s13073-017-0472-7Test

9

Genotype-Specific Abnormalities in Mitochondrial Function Associate with Distinct Profiles of Energy Metabolism and Catecholamine Content in Pheochromocytoma and Paraganglioma

المؤلفون: Arjen R. Mensenkamp, Ron A. Wevers, Jyotsna U. Rao, Angelina G. Goudswaard, Henricus P.M. Kunst, Udo F. H. Engelke, Karel Pacak, Graeme Eisenhofer, Nan Qin, Ad Hermus, Jacques W. M. Lenders, Richard J. Rodenburg, Henri J. L. M. Timmers, Benno Kusters, Fred C.G.J. Sweep

المصدر: Clinical Cancer Research; Vol 19
Clinical Cancer Research, 19, 3787-95
Clinical Cancer Research, 19, 14, pp. 3787-95

مصطلحات موضوعية: Male, Cancer Research, SDHB, Adrenal Gland Neoplasms, Succinic Acid, DCN PAC - Perception action and control, Mitochondrion, Catecholamines, 0302 clinical medicine, Paraganglioma, Citrate synthase, 0303 health sciences, Cardiovascular diseases [NCEBP 14], Electron Transport Complex II, Succinate dehydrogenase, Middle Aged, Mitochondria, 3. Good health, Mitochondrial medicine [IGMD 8], Oncology, 030220 oncology & carcinogenesis, Female, medicine.drug, Adult, medicine.medical_specialty, Adolescent, Genotype, Pheochromocytoma, Biology, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, 03 medical and health sciences, Internal medicine, ONCOL 3 - Translational research DCN MP - Plasticity and memory, medicine, Humans, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], DCN NN - Brain networks and neuronal communication, 030304 developmental biology, Translational research Genomic disorders and inherited multi-system disorders [ONCOL 3], Hormonal regulation [IGMD 6], Glycostation disorders [IGMD 4], medicine.disease, Endocrinology, Hereditary cancer and cancer-related syndromes Genomic disorders and inherited multi-system disorders [ONCOL 1], biology.protein, Catecholamine, Hormonal regulation Aetiology, screening and detection [IGMD 6], SDHD, Energy Metabolism

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a8b55612d5f34a85347800592c9f568Test
https://doi.org/10.1158/1078-0432.ccr-12-3922Test

10

Phospholipase A2 Receptor (PLA2R1) Sequence Variants in Idiopathic Membranous Nephropathy

المؤلفون: S. H. Powis, Robert Kleta, Marieke J H Coenen, Anne Boland-Augé, Peter W. Mathieson, Paul Brenchley, Hanna Debiec, Jack F.M. Wetzels, Johanne M. Groothuismink, Bénédicte Stengel, Horia Stanescu, Alan Medlar, Julia M. Hofstra, Pierre Ronco, Detlef Bockenhauer

المساهمون: Department of Human Genetics [Nijmegen], Radboud University Medical Center [Nijmegen], Department of Nephrology [Nijmegen, The Netherlands], Des Maladies Rénales Rares aux Maladies Fréquentes, Remodelage et Réparation, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre for Nephrology [London, UK], University College of London [London] (UCL), Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Academic Renal Unit [Bristol, UK], University of Bristol [Bristol], School of Biomedicine [Manchester, UK], University of Manchester [Manchester], The research leading to these results has received funding from the European Community’s Seventh Framework Programme under grant agreement 2012-305608 'European Consortium for High-Throughput Research in Rare Kidney Diseases' (EURenOmics)' (to P.W.M., P.E.B., R.K., J.F.M.W., P.R.), by the David and Elaine Potter Charitable Foundation (to S.H.P., R.K.), by the Dutch Kidney Foundation (J.M.H., grant KJPB11.021), and by the FrenchFoundation for Medical Research (H.D., P.R., grant 2012). The French Gn-Progress cohort was supported by grants from the French Ministry of Health (PHRC AOM 00022), the Ministry of Research (Decision d’aide 01P0513), and the Biomedicine Agency (AO Recherche et Greffes 2005)., Department of Human Genetics, Department of nephrology, Remodelage et Reparation du Tissu Renal, Centre for Nephrology, Equipe 10, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Academic Renal Unit, School of Biomedicine, Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), The research leading to these results has received funding from the European Community's Seventh Framework Programme under grant agreement 2012-305608 'European Consortium for High-Throughput Research in Rare Kidney Diseases' (EURenOmics)'(to P.W.M., P.E.B., R.K., J.F.M.W., P.R.), by the David and Elaine Potter Charitable Foundation (to S.H.P., R.K.), by the Dutch Kidney Foundation (J.M.H., grant KJPB11.021), and by the French Foundation for Medical Research (H.D., P.R., grant 2012). The French Gn-Progress cohort was supported by grants from the French Ministry of Health (PHRC AOM 00022), the Ministry of Research (Decision d'aide 01P0513), and the Biomedicine Agency (AO Recherche et Greffes 2005)., RONCO, Pierre, Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Département de Néphrologie = Service de Néphrologie et Dialyses [CHU Tenon], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Radboud University Medical Centre [Nijmegen, The Netherlands], Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Service de Néphrologie et Dialyses [CHU Tenon], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)

المصدر: Journal of the American Society of Nephrology
Journal of the American Society of Nephrology, 2013, 24 (4), pp.677-683. ⟨10.1681/ASN.2012070730⟩
Journal of the American Society of Nephrology, American Society of Nephrology, 2013, 24 (4), pp.677-83. ⟨10.1681/ASN.2012070730⟩
Journal of the American Society of Nephrology, 2013, 24 (4), pp.677-83. ⟨10.1681/ASN.2012070730⟩
Journal of the American Society of Nephrology, American Society of Nephrology, 2013, 24 (4), pp.677-683. ⟨10.1681/ASN.2012070730⟩
Journal of the American Society of Nephrology, 24, 4, pp. 677-83
Journal of the American Society of Nephrology; Vol 24
Journal of the American Society of Nephrology, 24, 677-83

مصطلحات موضوعية: Male, MESH: Sequence Analysis, DNA, MESH: Glomerulonephritis, Membranous, 030232 urology & nephrology, Glomerulonephritis, Membranous, Exon, 0302 clinical medicine, Coding region, MESH: Genomic Structural Variation, Renal disorder [IGMD 9], MESH: Aged, Genetics, Sanger sequencing, 0303 health sciences, MESH: Middle Aged, MESH: Polymorphism, Single Nucleotide, MESH: Genetic Predisposition to Disease, General Medicine, Middle Aged, 3. Good health, Nephrology, symbols, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Female, Adult, dbSNP, Sequence analysis, Biology, Polymorphism, Single Nucleotide, Mental health [NCEBP 9], Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, symbols.namesake, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], MESH: Receptors, Phospholipase A2, Humans, Genetic Predisposition to Disease, Allele, 1000 Genomes Project, Genomic disorders and inherited multi-system disorders Molecular epidemiology [IGMD 3], Gene, Aged, 030304 developmental biology, MESH: Humans, Receptors, Phospholipase A2, MESH: Adult, Sequence Analysis, DNA, Molecular biology, MESH: Male, Genomic Structural Variation, MESH: Female

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b192b20a06677d3bf650e3bd66ad35fTest
https://doi.org/10.1681/asn.2012070730Test

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