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Wyszukujesz frazę ""Mutation genetics"" wg kryterium: Temat


Tytuł :
Comprehensive Genomic and Epigenomic Analyses on Transcriptomic Regulation in Stomach Adenocarcinoma
Autorzy :
Junxing Chen
Weinan Liu
Jiabin Du
Pengcheng Wang
Jintian Wang
Kai Ye
Pokaż więcej
Temat :
stomach adenocarcinoma
integrative analysis of genomic and epigenomic regulation
DNA copy number–correlated genes
methylation-correlated genes
mutationgenetics
Genetics
QH426-470
Źródło :
Frontiers in Genetics, Vol 12 (2022)
Opis pliku :
electronic resource
Relacje :
https://www.frontiersin.org/articles/10.3389/fgene.2021.778095/full; https://doaj.org/toc/1664-8021
Dostęp URL :
https://doaj.org/article/02af5032dc3f40878f9a4165b94b96b8
Czasopismo naukowe
Tytuł :
Genomic Surveillance and Phylodynamic Analyses Reveal the Emergence of Novel Mutations and Co-mutation Patterns Within SARS-CoV-2 Variants Prevalent in India
Autorzy :
Nupur Biswas
Priyanka Mallick
Sujay Krishna Maity
Debaleena Bhowmik
Arpita Ghosh Mitra
Soumen Saha
Aviral Roy
Partha Chakrabarti
Sandip Paul
Saikat Chakrabarti
Pokaż więcej
Temat :
genome sequencing
India
mutationgenetics
phylodynamic analyses
SARS-CoV-2
COVID-19
Microbiology
QR1-502
Źródło :
Frontiers in Microbiology, Vol 12 (2021)
Opis pliku :
electronic resource
Relacje :
https://www.frontiersin.org/articles/10.3389/fmicb.2021.703933/full; https://doaj.org/toc/1664-302X
Dostęp URL :
https://doaj.org/article/26ab8dbc3e2e4758b3a6d709f570c31e
Czasopismo naukowe
Tytuł :
The contribution of X-linked coding variation to severe developmental disorders
Autorzy :
Martin, Hilary C.
Gardner, Eugene J.
Samocha, Kaitlin E.
Kaplanis, Joanna
Akawi, Nadia
Sifrim, Alejandro
Eberhardt, Ruth Y.
Tavares, Ana Lisa Taylor
Neville, Matthew D. C.
Niemi, Mari E. K.
Gallone, Giuseppe
McRae, Jeremy
Wright, Caroline F.
FitzPatrick, David R.
Firth, Helen V.
Hurles, Matthew E.
Borras, Silvia
Clark, Caroline
Dean, John
Miedzybrodzka, Zosia
Ross, Alison
Tennant, Stephen
Dabir, Tabib
Donnelly, Deirdre
Humphreys, Mervyn
Magee, Alex
McConnell, Vivienne
McKee, Shane
McNerlan, Susan
Morrison, Patrick J.
Rea, Gillian
Stewart, Fiona
Cole, Trevor
Cooper, Nicola
Cooper-Charles, Lisa
Cox, Helen
Islam, Lily
Jarvis, Joanna
Keelagher, Rebecca
Lim, Derek
McMullan, Dominic
Morton, Jenny
Naik, Swati
O’Driscoll, Mary
Ong, Kai-Ren
Osio, Deborah
Ragge, Nicola
Turton, Sarah
Vogt, Julie
Williams, Denise
Bodek, Simon
Donaldson, Alan
Hills, Alison
Low, Karen
Newbury-Ecob, Ruth
Norman, Andrew M.
Roberts, Eileen
Scurr, Ingrid
Smithson, Sarah
Tooley, Madeleine
Abbs, Steve
Armstrong, Ruth
Dunn, Carolyn
Holden, Simon
Park, Soo-Mi
Paterson, Joan
Raymond, Lucy
Reid, Evan
Sandford, Richard
Simonic, Ingrid
Tischkowitz, Marc
Woods, Geoff
Bradley, Lisa
Comerford, Joanne
Green, Andrew
Lynch, Sally
McQuaid, Shirley
Mullaney, Brendan
Berg, Jonathan
Goudie, David
Mavrak, Eleni
McLean, Joanne
McWilliam, Catherine
Reavey, Eleanor
Azam, Tara
Cleary, Elaine
Jackson, Andrew
Lam, Wayne
Lampe, Anne
Moore, David
Porteous, Mary
Baple, Emma
Baptista, Júlia
Brewer, Carole
Castle, Bruce
Kivuva, Emma
Owens, Martina
Rankin, Julia
Shaw-Smith, Charles
Turner, Claire
Turnpenny, Peter
Tysoe, Carolyn
Bradley, Therese
Davidson, Rosemarie
Gardiner, Carol
Joss, Shelagh
Kinning, Esther
Longman, Cheryl
McGowan, Ruth
Murday, Victoria
Pilz, Daniela
Tobias, Edward
Whiteford, Margo
Williams, Nicola
Barnicoat, Angela
Clement, Emma
Faravelli, Francesca
Hurst, Jane
Jenkins, Lucy
Jones, Wendy
Kumar, V.K.Ajith
Lees, Melissa
Loughlin, Sam
Male, Alison
Morrogh, Deborah
Rosser, Elisabeth
Scott, Richard
Wilson, Louise
Beleza, Ana
Deshpande, Charu
Flinter, Frances
Holder, Muriel
Irving, Melita
Izatt, Louise
Josifova, Dragana
Mohammed, Shehla
Molenda, Aneta
Robert, Leema
Roworth, Wendy
Ruddy, Deborah
Ryten, Mina
Yau, Shu
Bennett, Christopher
Blyth, Moira
Campbell, Jennifer
Coates, Andrea
Dobbie, Angus
Hewitt, Sarah
Hobson, Emma
Jackson, Eilidh
Jewell, Rosalyn
Kraus, Alison
Prescott, Katrina
Sheridan, Eamonn
Thomson, Jenny
Bradshaw, Kirsty
Dixit, Abhijit
Eason, Jacqueline
Haines, Rebecca
Harrison, Rachel
Mutch, Stacey
Sarkar, Ajoy
Searle, Claire
Shannon, Nora
Sharif, Abid
Suri, Mohnish
Vasudevan, Pradeep
Canham, Natalie
Ellis, Ian
Greenhalgh, Lynn
Howard, Emma
Stinton, Victoria
Swale, Andrew
Weber, Astrid
Banka, Siddharth
Breen, Catherine
Briggs, Tracy
Burkitt-Wright, Emma
Chandler, Kate
Clayton-Smith, Jill
Donnai, Dian
Douzgou, Sofia
Gaunt, Lorraine
Jones, Elizabeth
Kerr, Bronwyn
Langley, Claire
Metcalfe, Kay
Smith, Audrey
Wright, Ronnie
Bourn, David
Burn, John
Fisher, Richard
Hellens, Steve
Henderson, Alex
Montgomery, Tara
Splitt, Miranda
Straub, Volker
Wright, Michael
Zwolinski, Simon
Allen, Zoe
Bernhard, Birgitta
Brady, Angela
Brooks, Claire
Busby, Louise
Clowes, Virginia
Ghali, Neeti
Holder, Susan
Ibitoye, Rita
Wakeling, Emma
Blair, Edward
Carmichael, Jenny
Cilliers, Deirdre
Clasper, Susan
Gibbons, Richard
Kini, Usha
Lester, Tracy
Nemeth, Andrea
Poulton, Joanna
Price, Sue
Shears, Debbie
Stewart, Helen
Wilkie, Andrew
Albaba, Shadi
Baker, Duncan
Balasubramanian, Meena
Johnson, Diana
Parker, Michael
Quarrell, Oliver
Stewart, Alison
Willoughby, Josh
Crosby, Charlene
Elmslie, Frances
Homfray, Tessa
Jin, Huilin
Lahiri, Nayana
Mansour, Sahar
Marks, Karen
McEntagart, Meriel
Saggar, Anand
Tatton-Brown, Kate
Butler, Rachel
Clarke, Angus
Corrin, Sian
Fry, Andrew
Kamath, Arveen
McCann, Emma
Mugalaasi, Hood
Pottinger, Caroline
Procter, Annie
Sampson, Julian
Sansbury, Francis
Varghese, Vinod
Baralle, Diana
Callaway, Alison
Cassidy, Emma J.
Daniels, Stacey
Douglas, Andrew
Foulds, Nicola
Hunt, David
Kharbanda, Mira
Lachlan, Katherine
Mercer, Catherine
Side, Lucy
Temple, I. Karen
Wellesley, Diana
Pokaż więcej
Temat :
Chromosomes, Human, X/genetics
Developmental Disabilities/genetics
Female
Genes, Recessive
Genes, X-Linked
Genetic Diseases, X-Linked/genetics
Genetic Variation
Humans
Inheritance Patterns/genetics
Male
Multifactorial Inheritance/genetics
Mutation/genetics
Phenotype
Sex Characteristics
lcsh:Science
lcsh:Q
Article
Genetic association study
Medical genetics
Neurodevelopmental disorders
Deciphering Developmental Disorders Study
Chromosomes, Human, X
Genetic Diseases, X-Linked
Developmental Disabilities
Inheritance Patterns
Multifactorial Inheritance
Mutation
631/208/205
631/208/1516
631/208/366
49/23
General Physics and Astronomy
General Biochemistry, Genetics and Molecular Biology
General Chemistry
Developmental disorder
medicine.disease
medicine
Proband
Genetics
Missense mutation
Text mining
business.industry
business
Gene
Coding (social sciences)
Statistical analysis
Biology
Inference
MENTAL-RETARDATION
NOVO MUTATIONS
GENES
IDENTIFICATION
INDIVIDUALS
DISCOVERY
FRAMEWORK
VARIANTS
TRAITS
1184 Genetics, developmental biology, physiology
3111 Biomedicine
Źródło :
Deciphering Developmental Disorders Study 2021, ' The contribution of X-linked coding variation to severe developmental disorders ', Nature Communications, vol. 12, no. 1, 627 . https://doi.org/10.1038/s41467-020-20852-3
Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
Nature Communications
Crossref
Opis pliku :
application/pdf; Electronic
Dostępność :
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34f7ce6aa3e38d977912db1eeda30114
https://www.research.manchester.ac.uk/portal/en/publications/the-contribution-of-xlinked-coding-variation-to-severe-developmental-disorders(f6570c6e-13b0-40e2-9448-28afa04b8f48).html
Tytuł :
Induced Pluripotent Stem Cells to Understand Mucopolysaccharidosis. I: Demonstration of a Migration Defect in Neural Precursors
Autorzy :
Matthias R. Baumgartner
Adama Sidibé
Sten Ilmjärv
Silvin Lito
Bernhard Wehrle-Haller
Antoine Marteyn
Patricie Burda
Karl-Heinz Krause
Pokaż więcej
Temat :
Article
induced pluripotent stem cells
neuronal differentiation
disease modelling
mucopolysaccharidosis I
neural migration
neurite outgrowth
lcsh:Biology (General)
lcsh:QH301-705.5
ddc:616.07
ddc:612
Cell Differentiation/genetics
Cell Movement/genetics
Cells
Cultured
Gene Expression/genetics
Glycosaminoglycans/genetics/metabolism
Humans
Iduronidase/genetics/metabolism
Induced Pluripotent Stem Cells/metabolism
Lysosomes/genetics/metabolism
Mucopolysaccharidosis I/genetics/metabolism
Mutation/genetics
Neurons/metabolism
Phenotype
Medical Clinic
610 Medicine & health
General Medicine
Allele
Mucopolysaccharidosis I
Neurodegeneration
medicine.disease
medicine
Cell biology
Induced pluripotent stem cell
Gene expression
Biology
Gene
Mucopolysaccharidosis
Źródło :
Cells
Cells, Vol 9, Iss 2593, p 2593 (2020)
Cells, Vol. 9, No 12 (2020) P. 2593
Lito, Silvin; Sidibe, Adama; Ilmjarv, Sten; Burda, Patricie; Baumgartner, Matthias; Wehrle-Haller, Bernhard; Krause, Karl-Heinz; Marteyn, Antoine (2020). Induced pluripotent stem cells to understand mucopolysaccharidosis. I: demonstration of a migration defect in neural precursors. Cells, 9(12):2593.
Crossref
Volume 9
Issue 12
Opis pliku :
application/pdf
Dostępność :
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5339141b498e3433fdc221a55707396
http://europepmc.org/articles/PMC7761689
Tytuł :
Olaparib and durvalumab in patients with germline BRCA-mutated metastatic breast cancer (MEDIOLA):an open-label, multicentre, phase 1/2, basket study
Autorzy :
Saiama N. Waqar
Ding Wang
Haiyan Gao
Sakshi Gulati
Emma V. Jones
Iwanka Kozarewa
Matthew G Krebs
Helen K. Angell
Jean Pierre Delord
Sophie Postel-Vinay
Joon Rhee
Vidalba Rocher-Ros
Antoine Italiano
Susan M. Domchek
Zhongwu Lai
Benoit You
Anna M. L. Coenen-Stass
Sara Bastian
Bella Kaufman
P. Herbolsheimer
Jérôme Alexandre
Yeon Hee Park
Seock-Ah Im
L Opincar
M. Lanasa
Pokaż więcej
Temat :
Adolescent
Adult
Aged
Antibodies, Monoclonal/administration & dosage
B7-H1 Antigen/antagonists & inhibitors
BRCA1 Protein/genetics
BRCA2 Protein/genetics
Breast Neoplasms/drug therapy
Female
Germ-Line Mutation/genetics
Humans
Middle Aged
Neoplasm Metastasis
Neoplasm Recurrence, Local/drug therapy
Phthalazines/administration & dosage
Piperazines/administration & dosage
Young Adult
Oncology
Metastatic breast cancer
medicine.disease
medicine
Olaparib
chemistry.chemical_compound
chemistry
Lung cancer
Durvalumab
Breast cancer
Internal medicine
medicine.medical_specialty
Adverse effect
business.industry
business
Tolerability
Clinical trial
Źródło :
Domchek, S M, Postel-Vinay, S, Im, S-A, Park, Y H, Delord, J-P, Italiano, A, Alexandre, J, You, B, Bastian, S, Krebs, M G, Wang, D, Waqar, S N, Lanasa, M, Rhee, J, Gao, H, Rocher-Ros, V, Jones, E V, Gulati, S, Coenen-Stass, A, Kozarewa, I, Lai, Z, Angell, H K, Opincar, L, Herbolsheimer, P & Kaufman, B 2020, ' Olaparib and durvalumab in patients with germline BRCA-mutated metastatic breast cancer (MEDIOLA) : an open-label, multicentre, phase 1/2, basket study ', The Lancet. Oncology, vol. 21, no. 9, pp. 1155-1164 . https://doi.org/10.1016/S1470-2045(20)30324-7
Crossref
Opis pliku :
application/vnd.openxmlformats-officedocument.wordprocessingml.document
Dostępność :
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c34416fb3adf2a299c05113cf960a2c
https://www.research.manchester.ac.uk/portal/en/publications/olaparib-and-durvalumab-in-patients-with-germline-brcamutated-metastatic-breast-cancer-mediola(5e0b81c7-c58f-4a44-98f4-47d6ec2731f4).html
Tytuł :
Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk
Autorzy :
Liu, Jingjing
Prager - Van Der Smissen, Wendy J. C.
Collée, J. Margriet
Bolla, Manjeet K.
Wang, Qin
Michailidou, Kyriaki
Dennis, Joe
Ahearn, Thomas U.
Aittomäki, Kristiina
Ambrosone, Christine B.
Andrulis, Irene L.
Anton-Culver, Hoda
Antonenkova, Natalia N.
Arndt, Volker
Arnold, Norbert
Aronson, Kristan J.
Augustinsson, Annelie
Auvinen, Päivi
Becher, Heiko
Beckmann, Matthias W.
Behrens, Sabine
Bermisheva, Marina
Bernstein, Leslie
Bogdanova, Natalia V.
Bogdanova-Markov, Nadja
Bojesen, Stig E.
Brauch, Hiltrud
Brenner, Hermann
Briceno, Ignacio
Brucker, Sara Y.
Brüning, Thomas
Burwinkel, Barbara
Cai, Qiuyin
Cai, Hui
Campa, Daniele
Canzian, Federico
Castelao, Jose E.
Chang-Claude, Jenny
Chanock, Stephen J.
Choi, Ji-Yeob
Christiaens, Melissa
Clarke, Christine L.
Couch, Fergus J.
Czene, Kamila
Daly, Mary B.
Devilee, Peter
Dos-Santos-Silva, Isabel
Dwek, Miriam
Eccles, Diana M.
Eliassen, A. Heather
Fasching, Peter A.
Figueroa, Jonine
Flyger, Henrik
Fritschi, Lin
Gago-Dominguez, Manuela
Gapstur, Susan M.
García-Closas, Montserrat
García-Sáenz, José A.
Gaudet, Mia M.
Giles, Graham G.
Goldberg, Mark S.
Goldgar, David E.
Guénel, Pascal
Haiman, Christopher A.
Håkansson, Niclas
Hall, Per
Harrington, Patricia A.
Hart, Steven N.
Hartman, Mikael
Hillemanns, Peter
Hopper, John L.
Hou, Ming-Feng
Hunter, David J.
Huo, Dezheng
Ito, Hidemi
Iwasaki, Motoki
Jakimovska, Milena
Jakubowska, Anna
John, Esther M.
Kaaks, Rudolf
Kang, Daehee
Keeman, Renske
Khusnutdinova, Elza
Kim, Sung-Won
Kraft, Peter
Kristensen, Vessela N.
Kurian, Allison W.
Le Marchand, Loic
Li, Jingmei
Lindblom, Annika
Lophatananon, Artitaya
Luben, Robert N.
Lubiński, Jan
Mannermaa, Arto
Manoochehri, Mehdi
Manoukian, Siranoush
Margolin, Sara
Mariapun, Shivaani
Matsuo, Keitaro
Maurer, Tabea
Mavroudis, Dimitrios
Meindl, Alfons
Menon, Usha
Milne, Roger L.
Muir, Kenneth
Mulligan, Anna Marie
Neuhausen, Susan L.
Nevanlinna, Heli
Offit, Kenneth
Olopade, Olufunmilayo I.
Olson, Janet E.
Olsson, Håkan
Orr, Nick
Park, Sue K.
Peterlongo, Paolo
Peto, Julian
Plaseska-Karanfilska, Dijana
Presneau, Nadege
Rack, Brigitte
Rau-Murthy, Rohini
Rennert, Gad
Rennert, Hedy S.
Rhenius, Valerie
Romero, Atocha
Ruebner, Matthias
Saloustros, Emmanouil
Schmutzler, Rita K.
Schneeweiss, Andreas
Scott, Christopher
Shah, Mitul
Shen, Chen-Yang
Shu, Xiao-Ou
Simard, Jacques
Sohn, Christof
Southey, Melissa C.
Spinelli, John J.
Tamimi, Rulla M.
Tapper, William J.
Teo, Soo H.
Terry, Mary Beth
Torres, Diana
Truong, Thérèse
Untch, Michael
Vachon, Celine M.
Van Asperen, Christi J.
Wolk, Alicja
Yamaji, Taiki
Zheng, Wei
Ziogas, Argyrios
Ziv, Elad
Torres-Mejía, Gabriela
Dörk, Thilo
Swerdlow, Anthony J.
Hamann, Ute
Schmidt, Marjanka K.
Dunning, Alison M.
Pharoah, Paul D. P.
Easton, Douglas F.
Hooning, Maartje J.
Martens, John W. M.
Hollestelle, Antoinette
Sahlberg, Kristine K.
Børresen-Dale, Anne-Lise
Ottestad, Lars
Kåresen, Rolf
Schlichting, Ellen
Holmen, Marit Muri
Sauer, Toril
Haakensen, Vilde
Engebråten, Olav
Naume, Bjørn
Fosså, Alexander
Kiserud, Cecile E.
Reinertsen, Kristin V.
Helland, Åslaug
Riis, Margit
Geisler, Jürgen
Alnæs, Grethe I. Grenaker
Bathen, Tone F.
Borgen, Elin
Fritzman, Britt
Garred, Øystein
Geitvik, Gry Aarum
Hofvind, Solveig
Langerød, Anita
Lingjærde, Ole Christian
Mælandsmo, Gunhild Mari
Russnes, Hege G
Skjerven, Helle Kristine
Sørlie, Therese
Clarke, Christine
Marsh, Deborah
Scott, Rodney
Baxter, Robert
Yip, Desmond
Carpenter, Jane
Davis, Alison
Pathmanathan, Nirmala
Simpson, Peter
Graham, Dinny
Sachchithananthan, Mythily
Pokaż więcej
Temat :
2-GENE EXPRESSION RATIO
P.GLY84GLU MUTATION
G84E MUTATION
PROSTATE
SUSCEPTIBILITY
TAMOXIFEN
GENE
ASSOCIATION
CONSORTIUM
CHROMATIN
3122 Cancers
Breast Neoplasms/genetics
Female
Genetic Predisposition to Disease/genetics
Genotyping Techniques
Germ-Line Mutation/genetics
Homeodomain Proteins/genetics
Humans
Middle Aged
Risk Factors
Journal Article
Research Support, N.I.H., Extramural
Research Support, N.I.H., Intramural
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, Non-P.H.S
Research Support, U.S. Gov't, P.H.S
Article
631/67
631/208
692/4028
692/499
Cancer
Genetics
Oncology
Risk factors
Cancer and Oncology
Cancer och onkologi
Medical Genetics
Medicinsk genetik
NBCS Collaborators
ABCTB Investigators
Breast Neoplasms
Genetic Predisposition to Disease
Homeodomain Proteins
Germ-Line Mutation
lcsh:Medicine
lcsh:R
lcsh:Science
lcsh:Q
Multidisciplinary
Germline
medicine.medical_specialty
medicine
Germline mutation
Internal medicine
Allele
business.industry
business
Correlation and dependence
Tamoxifen
medicine.drug
Prostate
medicine.anatomical_structure
Medical genetics
Breast cancer
medicine.disease
skin and connective tissue diseases
Źródło :
NBCS Collaborators 2020, ' Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk ', Scientific Reports, vol. 10, no. 1, pp. 9688 . https://doi.org/10.1038/s41598-020-65665-y
Liu, J, Prager - van der Smissen, W J C, Collée, J M, Bolla, M K, Wang, Q, Michailidou, K, Dennis, J, Ahearn, T U, Aittomäki, K, Ambrosone, C B, Andrulis, I L, Anton-Culver, H, Antonenkova, N N, Arndt, V, Arnold, N, Aronson, K J, Augustinsson, A, Auvinen, P, Becher, H, Beckmann, M W, Behrens, S, Bermisheva, M, Bernstein, L, Bogdanova, N V, Bogdanova-Markov, N, Bojesen, S E, Brauch, H, Brenner, H, Briceno, I, Brucker, S Y, Brüning, T, Burwinkel, B, Cai, Q, Cai, H, Campa, D, Canzian, F, Castelao, J E, Chang-Claude, J, Chanock, S J, Choi, J Y, Christiaens, M, Clarke, C L, Sahlberg, K K, Børresen-Dale, A L, Ottestad, L, Kåresen, R, Schlichting, E, Holmen, M M, Sauer, T, Haakensen, V, NBCS Collaborators, OSBREAC & ABCTB Investigators 2020, ' Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk ', Scientific Reports, vol. 10, no. 1, 9688 . https://doi.org/10.1038/s41598-020-65665-y
Scientific Reports, 10(1)
Scientific Reports
2020, ' Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk ', Scientific Reports, vol. 10, no. 1, pp. 9688 . https://doi.org/10.1038/s41598-020-65665-y
Scientific Reports, Vol 10, Iss 1, Pp 1-14 (2020)
Scientific reports, vol 10, iss 1
Crossref
Opis pliku :
application/pdf; text; Electronic
Dostępność :
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdcedf1605bb37d2ce370dd1c75c9bb3
http://hdl.handle.net/10138/319462
Tytuł :
Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children
Autorzy :
Attila Tar
Ken McElreavey
Joelle Bignon-Topalovic
Jean-Pierre Siffroi
Capucine Hyon
Rajpert-De Meyts E
John C. Achermann
Anu Bashamboo
Anne Jørgensen
David Rodriguez-Buritica
Laetitia Martinerie
Péter Nagy
Caroline Eozenou
Paye-Jaouen A
Sophie Lambert
Rita Bertalan
Zita Halász
János Sólyom
Pokaż więcej
Temat :
Report
sex determination
COUP-TF2
NR2F2
nuclear receptor
testicular DSD
new syndrome
MESH: 46, XX Disorders of Sex Development / genetics
MESH: Amino Acid Sequence
MESH: Humans
MESH: Loss of Function Mutation / genetics
MESH: Male
MESH: Ovary / growth & development
MESH: Ovary / metabolism
MESH: Phenotype
MESH: Testis / abnormalities
MESH: Testis / growth & development
MESH: Base Sequence
MESH: COUP Transcription Factor II / chemistry
MESH: COUP Transcription Factor II / genetics
MESH: Child
MESH: Female
MESH: Forkhead Box Protein L2 / metabolism
MESH: Frameshift Mutation / genetics
MESH: Heterozygote
[SDV]Life Sciences [q-bio]
[SDV.BDLR.RS]Life Sciences [q-bio]/Reproductive Biology/Sexual reproduction
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
Nuclear receptor
Cell biology
Loss function
Biology
Cardiac defects
Genetics(clinical)
Genetics
Androgen
medicine.drug_class
medicine
Frameshift mutation
Exome
Ovary
medicine.anatomical_structure
Population
education.field_of_study
education
Bioinformatics
Virilization
medicine.symptom
Mutation
medicine.disease_cause
Źródło :
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102 (3), pp.487-493. ⟨10.1016/j.ajhg.2018.01.021⟩
Crossref
Dostępność :
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e91d6a53f3d8867c6d02692f0689a27
http://europepmc.org/articles/PMC5985285
Tytuł :
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients
Autorzy :
Thierry Kuntzer
Nicol C. Voermans
Jean Mathieu
Joery P. Molenaar
Roberto Fernández-Torrón
Savine Vicart
Mark E. Roberts
Gaetano Vattemi
Anthony Behin
Bruno Eymard
E. Kamsteeg
Damien Sternberg
Barbara W. Brandom
Frédéric Chevessier
Armelle Magot
K. Suetterlin
Yann Péréon
Baziel G.M. van Engelen
Amaia Martínez-Arroyo
Benno Küsters
Valeria Guglielmi
Juergen Seeger
Marc M J Snoeck
Jérôme Franques
Guillaume Bassez
Susan Treves
Jamie I Verhoeven
Richard J. Rodenburg
Corrie E. Erasmus
Lucie Guyant-Maréchal
Michael G. Hanna
Pokaż więcej
Temat :
Adolescent
Adult
Calcium-Transporting ATPases/genetics
Child
Female
Humans
Male
Muscle, Skeletal/metabolism
Muscle, Skeletal/physiopathology
Muscular Diseases/genetics
Mutation/genetics
Myotonia Congenita/genetics
Phenotype
Sarcoplasmic Reticulum/metabolism
Young Adult
ATP2A1
Brody disease
calcium
genotype
phenotype
Original Articles
Editor's Choice
Clinical Neurology
Muscle biopsy
medicine.diagnostic_test
medicine
Internal medicine
medicine.medical_specialty
Atrophy
medicine.disease
Myopathy
medicine.symptom
Physical examination
Contracture
Myotonia
Muscle contracture
business.industry
business
Malignant hyperthermia
Źródło :
Brain, 143, 452-466
Brain, vol. 143, no. 2, pp. 452-466
Brain
Crossref
Opis pliku :
application/pdf
Dostępność :
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8aae815c34577eaee53ba8ee9644b0c8
http://hdl.handle.net/2066/218262

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