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Wyszukujesz frazę ""Goodship, Judith A."" wg kryterium: Autor


Tytuł :
Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield
Autorzy :
Thomson, Kate L.Aff1, Aff2
Ormondroyd, Elizabeth
Harper, Andrew R.
Dent, Tim
McGuire, Karen
Baksi, John
Blair, Edward
Brennan, Paul
Buchan, RachelAff3, Aff6
Bueser, Teofila
Campbell, Carolyn
Carr-White, Gerald
Cook, StuartAff3, Aff9, Aff10, Aff11
Daniels, Matthew
Deevi, Sri V. V.Aff12, Aff13
Goodship, Judith
Hayesmoore, Jesse B. G
Henderson, Alex
Lamb, Teresa
Prasad, Sanjay
Rayner-Matthews, PaulaAff12, Aff13
Robert, Leema
Sneddon, Linda
Stark, HannahAff12, Aff13
Walsh, RoddyAff3, Aff6
Ware, James S.Aff3, Aff6, Aff11
Farrall, MartinAff1, Aff14
Watkins, Hugh C.Aff1, Aff14
NIHR BioResource – Rare Diseases Consortium
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Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(7):1576-1584
Czasopismo naukowe
Tytuł :
Mutations in Human Complement Regulator, Membrane Cofactor Protein (CD46), Predispose to Development of Familial Hemolytic Uremic Syndrome
Autorzy :
Richards, Anna
Kemp, Elizabeth J.
Liszewski, M. Kathryn
Goodship, Judith A.
Lampe, Anne K.
Decorte, Ronny
Müslümanoǧglu, M. Hamza
Kavukcu, Salih
Filler, Guido
Pirson, Yves
Wen, Leana S.
Atkinson, John P.
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Źródło :
Proceedings of the National Academy of Sciences of the United States of America. 100(22):12966-12971
Dostęp URL :
https://www.jstor.org/stable/3148070
Czasopismo naukowe
Tytuł :
Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants
Autorzy :
Griffin, Helen R.
Töpf, Ana
Glen, Elise
Zweier, Christiane
Stuart, A. Graham
Parsons, Jonathan
Peart, Ian
Deanfield, John
O'Sullivan, John
Rauch, Anita
Scambler, Peter
Burn, John
Cordell, Heather J.
Keavney, Bernard
Goodship, Judith A.
Pokaż więcej
Dostęp URL :
https://www.europeana.eu/item/2048441/item_IMXQSNOQORG3RXQ7WXDJI7UKWL46U2D7?utm_source=api&utm_medium=api&utm_campaign=YuvuWBeCa
Tytuł :
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018)
Autorzy :
Blok, Lot Snijders
Rousseau, Justine
Twist, Joanna
Ehresmann, Sophie
Takaku, Motoki
Venselaar, Hanka
Rodan, Lance H
Nowak, Catherine B
Douglas, Jessica
Swoboda, Kathryn J
Steeves, Marcie A
Sahai, Inderneel
Stumpel, Connie TRM
Stegmann, Alexander PA
Wheeler, Patricia
Willing, Marcia
Fiala, Elise
Kochhar, Aaina
Gibson, William T
Cohen, Ana SA
Agbahovbe, Ruky
Innes, A Micheil
Au, PY Billie
Rankin, Julia
Anderson, Ilse J
Skinner, Steven A
Louie, Raymond J
Warren, Hannah E
Afenjar, Alexandra
Keren, Boris
Nava, Caroline
Buratti, Julien
Isapof, Arnaud
Rodriguez, Diana
Lewandowski, Raymond
Propst, Jennifer
van Essen, Ton
Choi, Murim
Lee, Sangmoon
Chae, Jong H
Price, Susan
Schnur, Rhonda E
Douglas, Ganka
Wentzensen, Ingrid M
Zweier, Christiane
Reis, Andre
Bialer, Martin G
Moore, Christine
Koopmans, Marije
Brilstra, Eva H
Monroe, Glen R
van Gassen, Koen LI
van Binsbergen, Ellen
Newbury-Ecob, Ruth
Bownass, Lucy
Bader, Ingrid
Mayr, Johannes A
Wortmann, Saskia B
Jakielski, Kathy J
Strand, Edythe A
Kloth, Katja
Bierhals, Tatjana
Roberts, John D
Petrovich, Robert M
Machida, Shinichi
Kurumizaka, Hitoshi
Lelieveld, Stefan
Pfundt, Rolph
Jansen, Sandra
Deriziotis, Pelagia
Faivre, Laurence
Thevenon, Julien
Assoum, Mirna
Shriberg, Lawrence
Kleefstra, Tjitske
Brunner, Han G
Wade, Paul A
Fisher, Simon E
Campeau, Philippe M
McRae, Jeremy F
Clayton, Stephen
Fitzgerald, Tomas W
Kaplanis, Joanna
Prigmore, Elena
Rajan, Diana
Sifrim, Alejandro
Aitken, Stuart
Akawi, Nadia
Alvi, Mohsan
Ambridge, Kirsty
Barrett, Daniel M
Bayzetinova, Tanya
Jones, Philip
Jones, Wendy D
King, Daniel
Krishnappa, Netravathi
Mason, Laura E
Singh, Tarjinder
Tivey, Adrian R
Ahmed, Munaza
Anjum, Uruj
Archer, Hayley
Armstrong, Ruth
Awada, Jana
Balasubramanian, Meena
Banka, Siddharth
Baralle, Diana
Barnicoat, Angela
Batstone, Paul
Baty, David
Bennett, Chris
Berg, Jonathan
Bernhard, Birgitta
Bevan, A Paul
Bitner-Glindzicz, Maria
Blair, Edward
Blyth, Moira
Bohanna, David
Bourdon, Louise
Bourn, David
Bradley, Lisa
Brady, Angela
Brent, Simon
Brewer, Carole
Brunstrom, Kate
Bunyan, David J
Burn, John
Canham, Natalie
Castle, Bruce
Chandler, Kate
Chatzimichali, Elena
Cilliers, Deirdre
Clarke, Angus
Clasper, Susan
Clayton-Smith, Jill
Clowes, Virginia
Coates, Andrea
Cole, Trevor
Colgiu, Irina
Collins, Amanda
Collinson, Morag N
Connell, Fiona
Cooper, Nicola
Cox, Helen
Cresswell, Lara
Cross, Gareth
Crow, Yanick
D'Alessandro, Mariella
Dabir, Tabib
Davidson, Rosemarie
Davies, Sally
de Vries, Dylan
Dean, John
Deshpande, Charu
Devlin, Gemma
Dixit, Abhijit
Dobbie, Angus
Donaldson, Alan
Donnai, Dian
Donnelly, Deirdre
Donnelly, Carina
Douglas, Angela
Douzgou, Sofia
Duncan, Alexis
Eason, Jacqueline
Ellard, Sian
Ellis, Ian
Elmslie, Frances
Evans, Karenza
Everest, Sarah
Fendick, Tina
Fisher, Richard
Flinter, Frances
Foulds, Nicola
Fry, Andrew
Fryer, Alan
Gardiner, Carol
Gaunt, Lorraine
Ghali, Neeti
Gibbons, Richard
Gill, Harinder
Goodship, Judith
Goudie, David
Gray, Emma
Green, Andrew
Greene, Philip
Greenhalgh, Lynn
Gribble, Susan
Harrison, Rachel
Harrison, Lucy
Harrison, Victoria
Hawkins, Rose
He, Liu
Hellens, Stephen
Henderson, Alex
Hewitt, Sarah
Hildyard, Lucy
Hobson, Emma
Holden, Simon
Holder, Muriel
Holder, Susan
Hollingsworth, Georgina
Homfray, Tessa
Humphreys, Mervyn
Hurst, Jane
Hutton, Ben
Ingram, Stuart
Irving, Melita
Islam, Lily
Jackson, Andrew
Jarvis, Joanna
Jenkins, Lucy
Johnson, Diana
Jones, Elizabeth
Josifova, Dragana
Joss, Shelagh
Kaemba, Beckie
Kazembe, Sandra
Kelsell, Rosemary
Kerr, Bronwyn
Kingston, Helen
Kini, Usha
Kinning, Esther
Kirby, Gail
Kirk, Claire
Kivuva, Emma
Kraus, Alison
Kumar, Dhavendra
Kumar, VK Ajith
Lachlan, Katherine
Lam, Wayne
Lampe, Anne
Langman, Caroline
Lees, Melissa
Lim, Derek
Longman, Cheryl
Lowther, Gordon
Lynch, Sally A
Magee, Alex
Maher, Eddy
Male, Alison
Mansour, Sahar
Marks, Karen
Martin, Katherine
Maye, Una
McCann, Emma
McConnell, Vivienne
McEntagart, Meriel
McGowan, Ruth
McKay, Kirsten
McKee, Shane
McMullan, Dominic J
McNerlan, Susan
McWilliam, Catherine
Mehta, Sarju
Metcalfe, Kay
Middleton, Anna
Miedzybrodzka, Zosia
Miles, Emma
Mohammed, Shehla
Montgomery, Tara
Moore, David
Morgan, Sian
Morton, Jenny
Mugalaasi, Hood
Murday, Victoria
Murphy, Helen
Naik, Swati
Nemeth, Andrea
Nevitt, Louise
Norman, Andrew
O'Shea, Rosie
Ogilvie, Caroline
Ong, Kai-Ren
Park, Soo-Mi
Parker, Michael J
Patel, Chirag
Paterson, Joan
Payne, Stewart
Perrett, Daniel
Phipps, Julie
Pilz, Daniela T
Pollard, Martin
Pottinger, Caroline
Poulton, Joanna
Pratt, Norman
Prescott, Katrina
Pridham, Abigail
Procter, Annie
Purnell, Hellen
Quarrell, Oliver
Ragge, Nicola
Rahbari, Raheleh
Randall, Josh
Raymond, Lucy
Rice, Debbie
Robert, Leema
Roberts, Eileen
Roberts, Jonathan
Roberts, Paul
Roberts, Gillian
Ross, Alison
Rosser, Elisabeth
Saggar, Anand
Samant, Shalaka
Sampson, Julian
Sandford, Richard
Sarkar, Ajoy
Schweiger, Susann
Scott, Richard
Scurr, Ingrid
Selby, Ann
Seller, Anneke
Sequeira, Cheryl
Shannon, Nora
Sharif, Saba
Shaw-Smith, Charles
Shearing, Emma
Shears, Debbie
Sheridan, Eamonn
Simonic, Ingrid
Singzon, Roldan
Skitt, Zara
Smith, Audrey
Smith, Kath
Smithson, Sarah
Sneddon, Linda
Splitt, Miranda
Squires, Miranda
Stewart, Fiona
Stewart, Helen
Straub, Volker
Suri, Mohnish
Sutton, Vivienne
Swaminathan, Ganesh Jawahar
Sweeney, Elizabeth
Tatton-Brown, Kate
Taylor, Cat
Taylor, Rohan
Tein, Mark
Temple, I Karen
Thomson, Jenny
Tischkowitz, Marc
Tomkins, Susan
Torokwa, Audrey
Treacy, Becky
Turner, Claire
Turnpenny, Peter
Tysoe, Carolyn
Vandersteen, Anthony
Varghese, Vinod
Vasudevan, Pradeep
Vijayarangakannan, Parthiban
Vogt, Julie
Wakeling, Emma
Wallwark, Sarah
Waters, Jonathon
Weber, Astrid
Wellesley, Diana
Whiteford, Margo
Widaa, Sara
Wilcox, Sarah
Wilkinson, Emily
Williams, Denise
Williams, Nicola
Wilson, Louise
Woods, Geoff
Wragg, Christopher
Wright, Michael
Yates, Laura
Yau, Michael
Nellaker, Chris
Parker, Michael
Firth, Helen V
Wright, Caroline F
FitzPatrick, David R
Barrett, Jeffrey C
Hurles, Matthew E
Study, DDD
Pokaż więcej
Źródło :
Nature Communications, 10:2079. Nature Publishing Group
NATURE COMMUNICATIONS
Opis pliku :
application/pdf
Dostępność :
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::9d1f0fd37c1bd1863f48b624456e76f0
https://research.rug.nl/en/publications/chd3-helicase-domain-mutations-cause-a-neurodevelopmental-syndrome-with-macrocephaly-and-impaired-speech-and-language-vol-9-4619-2018(2cb74c34-77d4-40ac-8c0e-5f692009d7eb).html
Tytuł :
Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield
Autorzy :
Thomson, Kate L
Ormondroyd, Elizabeth
Harper, Andrew R
Dent, Tim
McGuire, Karen
Baksi, John
Blair, Edward
Brennan, Paul
Buchan, Rachel
Bueser, Teofila
Campbell, Carolyn
Carr-White, Gerald
Cook, Stuart
Daniels, Matthew
Deevi, Sri VV
Goodship, Judith
Hayesmoore, Jesse BG
Henderson, Alex
Lamb, Teresa
Prasad, Sanjay
Rayner-Matthews, Paula
Robert, Leema
Sneddon, Linda
Stark, Hannah
Walsh, Roddy
Ware, James S
Farrall, Martin
Watkins, Hugh C
Pokaż więcej
Temat :
Genetics(clinical)
Genetic testing
medicine.diagnostic_test
medicine
Mendelian disorders
Biology
Sarcomere
Gene
Disease
DNA sequencing
Hypertrophic cardiomyopathy
medicine.disease
Uninterpretable
Genetics
Science & Technology
Life Sciences & Biomedicine
Genetics & Heredity
HCM
genetic testing
variant interpretation
VUS
evidence-based
TASK-FORCE
MUTATIONS
VARIANTS
DISEASE
GUIDELINES
RARE
NIHR BioResource – Rare Diseases Consortium
0604 Genetics
1103 Clinical Sciences
Article
Źródło :
Crossref
NIHR BioResource – Rare Diseases Consortium 2019, ' Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 21, no. 7, pp. 1576-1584 . https://doi.org/10.1038/s41436-018-0375-z
Genetics in medicine : official journal of the American College of Medical Genetics
Dostępność :
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab57c703230e81dec84260049399048e
http://ora.ox.ac.uk/objects/uuid:
Tytuł :
Histone lysine methylases and demethylases in the landscape of human developmental disorders
Autorzy :
Faundes, Víctor
Newman, William G.
Bernardini, Laura
Canham, Natalie
Clayton-Smith, Jill
Dallapiccola, Bruno
Davies, Sally J.
Demos, Michelle K.
Goldman, Amy
Gill, Harinder
Horton, Rachel
Kerr, Bronwyn
Kumar, Dhavendra
Lehman, Anna
McKee, Shane
Morton, Jenny
Parker, Michael J.
Rankin, Julia
Robertson, Lisa
Temple, I. Karen
Banka, Siddharth
Adam, Shelin
du Souich, Christèle
Elliott, Alison M.
Mwenifumbo, Jill
Nelson, Tanya N.
van Karnebeek, Clara
Friedman, Jan M.
McRae, Jeremy F.
Clayton, Stephen
Fitzgerald, Tomas W.
Kaplanis, Joanna
Prigmore, Elena
Rajan, Diana
Sifrim, Alejandro
Aitken, Stuart
Akawi, Nadia
Alvi, Mohsan
Ambridge, Kirsty
Barrett, Daniel M.
Bayzetinova, Tanya
Jones, Philip
Jones, Wendy D.
King, Daniel
Krishnappa, Netravathi
Mason, Laura E.
Singh, Tarjinder
Tivey, Adrian R.
Ahmed, Munaza
Anjum, Uruj
Archer, Hayley
Armstrong, Ruth
Awada, Jana
Balasubramanian, Meena
Baralle, Diana
Barnicoat, Angela
Batstone, Paul
Baty, David
Bennett, Chris
Berg, Jonathan
Bernhard, Birgitta
Bevan, A. Paul
Bitner-Glindzicz, Maria
Blair, Edward
Blyth, Moira
Bohanna, David
Bourdon, Louise
Bourn, David
Bradley, Lisa
Brady, Angela
Brent, Simon
Brewer, Carole
Brunstrom, Kate
Bunyan, David J.
Burn, John
Castle, Bruce
Chandler, Kate
Chatzimichali, Elena
Cilliers, Deirdre
Clarke, Angus
Clasper, Susan
Clowes, Virginia
Coates, Andrea
Cole, Trevor
Colgiu, Irina
Collins, Amanda
Collinson, Morag N.
Connell, Fiona
Cooper, Nicola
Cox, Helen
Cresswell, Lara
Cross, Gareth
Crow, Yanick
D’Alessandro, Mariella
Dabir, Tabib
Davidson, Rosemarie
Davies, Sally
de Vries, Dylan
Dean, John
Deshpande, Charu
Devlin, Gemma
Dixit, Abhijit
Dobbie, Angus
Donaldson, Alan
Donnai, Dian
Donnelly, Deirdre
Donnelly, Carina
Douglas, Angela
Douzgou, Sofia
Duncan, Alexis
Eason, Jacqueline
Ellard, Sian
Ellis, Ian
Elmslie, Frances
Evans, Karenza
Everest, Sarah
Fendick, Tina
Fisher, Richard
Flinter, Frances
Foulds, Nicola
Fry, Andrew
Fryer, Alan
Gardiner, Carol
Gaunt, Lorraine
Ghali, Neeti
Gibbons, Richard
Goodship, Judith
Goudie, David
Gray, Emma
Green, Andrew
Greene, Philip
Greenhalgh, Lynn
Gribble, Susan
Harrison, Rachel
Harrison, Lucy
Harrison, Victoria
Hawkins, Rose
He, Liu
Hellens, Stephen
Henderson, Alex
Hewitt, Sarah
Hildyard, Lucy
Hobson, Emma
Holden, Simon
Holder, Muriel
Holder, Susan
Hollingsworth, Georgina
Homfray, Tessa
Humphreys, Mervyn
Hurst, Jane
Hutton, Ben
Ingram, Stuart
Irving, Melita
Islam, Lily
Jackson, Andrew
Jarvis, Joanna
Jenkins, Lucy
Johnson, Diana
Jones, Elizabeth
Josifova, Dragana
Joss, Shelagh
Kaemba, Beckie
Kazembe, Sandra
Kelsell, Rosemary
Kingston, Helen
Kini, Usha
Kinning, Esther
Kirby, Gail
Kirk, Claire
Kivuva, Emma
Kraus, Alison
Kumar, V.K. Ajith
Lachlan, Katherine
Lam, Wayne
Lampe, Anne
Langman, Caroline
Lees, Melissa
Lim, Derek
Longman, Cheryl
Lowther, Gordon
Lynch, Sally A.
Magee, Alex
Maher, Eddy
Male, Alison
Mansour, Sahar
Marks, Karen
Martin, Katherine
Maye, Una
McCann, Emma
McConnell, Vivienne
McEntagart, Meriel
McGowan, Ruth
McKay, Kirsten
McMullan, Dominic J.
McNerlan, Susan
McWilliam, Catherine
Mehta, Sarju
Metcalfe, Kay
Middleton, Anna
Miedzybrodzka, Zosia
Miles, Emma
Mohammed, Shehla
Montgomery, Tara
Moore, David
Morgan, Sian
Mugalaasi, Hood
Murday, Victoria
Murphy, Helen
Naik, Swati
Nemeth, Andrea
Nevitt, Louise
Newbury-Ecob, Ruth
Norman, Andrew
O’Shea, Rosie
Ogilvie, Caroline
Ong, Kai-Ren
Park, Soo-Mi
Patel, Chirag
Paterson, Joan
Payne, Stewart
Perrett, Daniel
Phipps, Julie
Pilz, Daniela T.
Pollard, Martin
Pottinger, Caroline
Poulton, Joanna
Pratt, Norman
Prescott, Katrina
Price, Sue
Pridham, Abigail
Procter, Annie
Purnell, Hellen
Quarrell, Oliver
Ragge, Nicola
Rahbari, Raheleh
Randall, Josh
Raymond, Lucy
Rice, Debbie
Robert, Leema
Roberts, Eileen
Roberts, Jonathan
Roberts, Paul
Roberts, Gillian
Ross, Alison
Rosser, Elisabeth
Saggar, Anand
Samant, Shalaka
Sampson, Julian
Sandford, Richard
Sarkar, Ajoy
Schweiger, Susann
Scott, Richard
Scurr, Ingrid
Selby, Ann
Seller, Anneke
Sequeira, Cheryl
Shannon, Nora
Sharif, Saba
Shaw-Smith, Charles
Shearing, Emma
Shears, Debbie
Sheridan, Eamonn
Simonic, Ingrid
Singzon, Roldan
Skitt, Zara
Smith, Audrey
Smith, Kath
Smithson, Sarah
Sneddon, Linda
Splitt, Miranda
Squires, Miranda
Stewart, Fiona
Stewart, Helen
Straub, Volker
Suri, Mohnish
Sutton, Vivienne
Swaminathan, Ganesh Jawahar
Sweeney, Elizabeth
Tatton-Brown, Kate
Taylor, Cat
Taylor, Rohan
Tein, Mark
Thomson, Jenny
Tischkowitz, Marc
Tomkins, Susan
Torokwa, Audrey
Treacy, Becky
Turner, Claire
Turnpenny, Peter
Tysoe, Carolyn
Vandersteen, Anthony
Varghese, Vinod
Vasudevan, Pradeep
Vijayarangakannan, Parthiban
Vogt, Julie
Wakeling, Emma
Wallwark, Sarah
Waters, Jonathon
Weber, Astrid
Wellesley, Diana
Whiteford, Margo
Widaa, Sara
Wilcox, Sarah
Wilkinson, Emily
Williams, Denise
Williams, Nicola
Wilson, Louise
Woods, Geoff
Wragg, Christopher
Wright, Michael
Yates, Laura
Yau, Michael
Nellåker, Chris
Parker, Michael
Firth, Helen V.
Wright, Caroline F.
FitzPatrick, David R.
Barrett, Jeffrey C.
Hurles, Matthew E.
Pokaż więcej
Temat :
Genetics(clinical)
Genetics
Compound heterozygosity
Dominance (genetics)
Histone lysine methylation
Overgrowth syndrome
Regulation of gene expression
Histone
biology.protein
biology
Haploinsufficiency
Chromatin remodeling
Report
ASH1L
chromatin remodeling
Developmental disorders
histone lysine demethylase
histone lysine methyltransferase
KDM5B
KMT2B
KMT2C
KMT5B
Źródło :
Crossref
Faundes, V, Newman, W G, Bernardini, L, Canham, N, Clayton-Smith, J, Dallapiccola, B, Davies, S J, Demos, M K, Goldman, A, Gill, H, Horton, R, Kerr, B, Kumar, D, Lehman, A, McKee, S, Morton, J, Parker, M J, Rankin, J, Robertson, L, Temple, I K & Banka, S 2018, ' Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders. ', American Journal of Human Genetics, vol. 102, no. 1, pp. 175-187 . https://doi.org/10.1016/j.ajhg.2017.11.013
Opis pliku :
text; application/pdf
Dostępność :
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81da092e524c6f0ac992bd9b2210f0e8
https://eprints.soton.ac.uk/417113/
Tytuł :
Genotype-phenotype correlations in Cornelia de Lange syndrome:Behavioral characteristics and changes with age
Autorzy :
Moss, Joanna
Penhallow, Jessica
Ansari, Morad
Barton, Stephanie
Bourn, David
FitzPatrick, David R.
Goodship, Judith
Hammond, Peter
Roberts, Catherine
Welham, Alice
Oliver, Chris
Pokaż więcej
Temat :
Journal Article
Genetics(clinical)
Genetics
Genetic heterogeneity
Psychology
Genetic disorder
medicine.disease
medicine
Impulsivity
medicine.symptom
NIPBL
Intellectual disability
Autism spectrum disorder
Cornelia de Lange Syndrome
Cohesin complex
Źródło :
Moss, J, Penhallow, J, Ansari, M, Barton, S, Bourn, D, FitzPatrick, D R, Goodship, J, Hammond, P, Roberts, C, Welham, A & Oliver, C 2017, ' Genotype-phenotype correlations in Cornelia de Lange syndrome : Behavioral characteristics and changes with age ', American Journal of Medical Genetics Part A, vol. 173, no. 6, pp. 1566-1574 . https://doi.org/10.1002/ajmg.a.38228
Crossref
Opis pliku :
application/vnd.openxmlformats-officedocument.wordprocessingml.document
Dostępność :
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e6bbef99dead7849cc3fd254aafb93c
https://www.pure.ed.ac.uk/ws/files/41074431/Genotype_phenotype_correlations_in_Cornelia_de_Lange_syndrome_behavioural_characteristics_and_changes_with_age.docx
Tytuł :
Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve
Autorzy :
Yang, Bo
Zhou, Wei
Jiao, Jiao
Nielsen, Jonas B.
Mathis, Michael R.
Heydarpour, Mahyar
Lettre, Guillaume
Folkersen, Lasse
Prakash, Siddharth
Schurmann, Claudia
Fritsche, Lars
Farnum, Gregory A.
Lin, Maoxuan
Othman, Mohammad
Hornsby, Whitney
Driscoll, Anisa
Levasseur, Alexandra
Thomas, Marc
Farhat, Linda
Dubé, Marie-Pierre
Isselbacher, Eric M.
Franco-Cereceda, Anders
Guo, Dong-chuan
Bottinger, Erwin P.
Deeb, G. Michael
Booher, Anna
Kheterpal, Sachin
Chen, Y. Eugene
Kang, Hyun Min
Kitzman, Jacob
Cordell, Heather J.
Keavney, Bernard D.
Goodship, Judith A.
Ganesh, Santhi K.
Abecasis, Gonçalo
Eagle, Kim A.
Boyle, Alan P.
Loos, Ruth J. F.
Eriksson, Per
Tardif, Jean-Claude
Brummett, Chad M.
Milewicz, Dianna M.
Body, Simon C.
Willer, Cristen J.
Pokaż więcej
Temat :
Chemistry(all)
Biochemistry, Genetics and Molecular Biology(all)
Physics and Astronomy(all)
Science
General Physics and Astronomy
General Biochemistry, Genetics and Molecular Biology
General Chemistry
Mesenchymal stem cell
Transcription factor
Risk factor
Internal medicine
medicine.medical_specialty
medicine
Heart valve
medicine.anatomical_structure
business.industry
business
Induced pluripotent stem cell
Gene
GATA4
Bicuspid aortic valve
medicine.disease
Endocrinology
Bioinformatics
Article
cardiovascular system
Źródło :
Nature Communications
Yang, B, Zhou, W, Jiao, J, Nielsen, J B, Mathis, M R, Heydarpour, M, Lettre, G, Folkersen, L, Prakash, S, Schurmann, C, Fritsche, L G, Farnum, G A, Lin, M, Othman, M, Hornsby, W, Driscoll, A, Levasseur, A, Thomas, M, Farhat, L, Dubé, M P, Isselbacher, E M, Franco-Cereceda, A, Guo, D C, Bottinger, E P, Deeb, G M, Booher, A, Kheterpal, S, Chen, Y E, Kang, H M, Kitzman, J, Cordell, H J, Keavney, B D, Goodship, J A, Ganesh, S K, Abecasis, G, Eagle, K A, Boyle, A P, Loos, R J F, Eriksson, P, Tardif, J C, Brummett, C M, Milewicz, D M, Body, S C & Willer, C J 2017, ' Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve ', Nature Communications, vol. 8, 15481 . https://doi.org/10.1038/ncomms15481
Nature Communications, Vol 8, Iss 1, Pp 1-10 (2017)
Crossref
Yang, B, Zhou, W-W, Jiao, J, Nielsen, J B, Mathis, M R, Heydarpour, M, Lettre, G, Folkersen, L W, Prakash, S, Schurmann, C, Fritsche, L, Farnum, G A, Lin, M, Othman, M, Hornsby, W, Driscoll, A, Levasseur, A, Thomas, M, Farhat, L, Dube, M-P, Isselbacher, E M, Franco-Cereceda, A, Guo, D-C, Bottinger, E P, Deeb, G M, Booher, A, Kheterpal, S, Chen, Y E, Kang, H M, Kitzman, J, Cordell, H J, Keavney, B D, Goodship, J A, Ganesh, S K, Abecasis, G, Eagle, K A, Boyle, A P, Loos, R J F, Eriksson, P, Tardif, J-C, Brummett, C M, Milewicz, D M, Body, S C & Willer, C J 2017, ' Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve ', Nature Communications, vol. 8, 15481 . https://doi.org/10.1038/ncomms15481
Opis pliku :
application/pdf
Dostępność :
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f00af964632ef16062651006d6fa0302
Tytuł :
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
Autorzy :
Sifrim, Alejandro
Hitz, Marc-Phillip
Wilsdon, Anna
Breckpot, Jeroen
Turki, Saeed H Al
Thienpont, Bernard
McRae, Jeremy
Fitzgerald, Tomas W
Singh, Tarjinder
Swaminathan, Ganesh Jawahar
Prigmore, Elena
Rajan, Diana
Abdul-Khaliq, Hashim
Banka, Siddharth
Bauer, Ulrike MM
Bentham, Jamie
Berger, Felix
Bhattacharya, Shoumo
Bu'Lock, Frances
Canham, Natalie
Colgiu, Irina-Gabriela
Cosgrove, Catherine
Cox, Helen
Daehnert, Ingo
Daly, Allan
Danesh, John
Fryer, Alan
Gewillig, Marc
Hobson, Emma
Hoff, Kirstin
Homfray, Tessa
INTERVAL Study
Kahlert, Anne-Karin
Ketley, Ami
Kramer, Hans-Heiner
Lachlan, Katherine
Lampe, Anne Katrin
Louw, Jacoba J
Manickara, Ashok Kumar
Manase, Dorin
McCarthy, Karen P
Metcalfe, Kay
Moore, Carmel
Newbury-Ecob, Ruth
Omer, Seham Osman
Ouwehand, Willem
Park, Soo-Mi
Parker, Michael J
Pickardt, Thomas
Pollard, Martin O
Robert, Leema
Roberts, David J
Sambrook, Jennifer
Setchfield, Kerry
Stiller, Brigitte
Thornborough, Chris
Toka, Okan
Watkins, Hugh
Williams, Denise
Wright, Michael
Mital, Seema
Daubeney, Piers EF
Keavney, Bernard
Goodship, Judith
UK10K Consortium
Abu-Sulaiman, Riyadh Mahdi
Klaassen, Sabine
Wright, Caroline F
Firth, Helen V
Barrett, Jeffrey C
Devriendt, Koenraad
FitzPatrick, David R
Brook, J David
Deciphering Developmental Disorders Study
Hurles, Matthew E
Pokaż więcej
Temat :
Clinical Genetics, Congenital Heart Defects, Genetics Research
Journal Article
Science & Technology
Life Sciences & Biomedicine
Genetics & Heredity
DE-NOVO MUTATIONS
DISEASE
RECURRENCE
DISCOVERY
FRAMEWORK
GENOTYPE
FAMILIES
INTERVAL Study
UK10K Consortium
Deciphering Developmental Disorders Study
Developmental Biology
11 Medical And Health Sciences
06 Biological Sciences
Humans
Heart Defects, Congenital
Syndrome
CDC2 Protein Kinase
Protein Kinase C
Autoantigens
Sequence Deletion
Protein Conformation
Mutation
Female
Male
Mi-2 Nucleosome Remodeling and Deacetylase Complex
Exome
Genetics
Proband
Exome sequencing
Sibling
Bioinformatics
Disease
Medical genetics
medicine.medical_specialty
medicine
Genotype
Penetrance
Biology
Article
cardiovascular diseases
Źródło :
Sifrim, A, Hitz, M-P, Wilsdon, A, Breckpot, J, Turki, S H A, Thienpont, B, McRae, J, Fitzgerald, T W, Singh, T, Swaminathan, G J, Prigmore, E, Rajan, D, Abdul-Khaliq, H, Banka, S, Bauer, U M M, Bentham, J, Berger, F, Bhattacharya, S, Bu'Lock, F, Canham, N, Colgiu, I-G, Cosgrove, C, Cox, H, Daehnert, I, Daly, A, Danesh, J, Fryer, A, Gewillig, M, Hobson, E, Hoff, K, Homfray, T, Kahlert, A-K, Ketley, A, Kramer, H-H, Lachlan, K, Lampe, A K, Louw, J J, Manickara, A K, Manase, D, McCarthy, K P, Metcalfe, K, Moore, C, Newbury-Ecob, R, Omer, S O, Ouwehand, W H, Park, S-M, Parker, M J, Pickardt, T, Pollard, M O, Keavney, B & INTERVAL Study 2016, ' Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing ', Nature Genetics, vol. 48, no. 9, pp. 1060-5 . https://doi.org/10.1038/ng.3627
Sifrim, A, Hitz, M-P, Wilsdon, A, Breckpot, J, Turki, S H A, Thienpont, B, McRae, J, Fitzgerald, T W, Singh, T, Swaminathan, G J, Prigmore, E, Rajan, D, Abdul-Khaliq, H, Banka, S, Bauer, U M M, Bentham, J, Berger, F, Bhattacharya, S, Bu'Lock, F, Canham, N, Colgiu, I-G, Cosgrove, C, Cox, H, Daehnert, I, Daly, A, Danesh, J, Fryer, A, Gewillig, M, Hobson, E, Hoff, K, Homfray, T, Kahlert, A-K, Ketley, A, Kramer, H-H, Lachlan, K, Lampe, A K, Louw, J J, Manickara, A K, Manase, D, McCarthy, K P, Metcalfe, K, Moore, C, Newbury-Ecob, R, Omer, S O, Ouwehand, W H, Park, S-M, Parker, M J, Pickardt, T & Pollard, M O & FitzPatrick, D R 2016, ' Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing ', Nature Genetics, vol. 48, no. 9, pp. 1060-5 . https://doi.org/10.1038/ng.3627
Crossref
Nature genetics
Opis pliku :
application/pdf; Archive; Print-Electronic; application/vnd.openxmlformats-officedocument.wordprocessingml.document
Dostępność :
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::782b7f587857178543be7ffb8892afae
http://eprints.nottingham.ac.uk/38584/
Tytuł :
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families
Autorzy :
Akawi, Nadia
McRae, Jeremy
Ansari, Morad
Balasubramanian, Meena
Blyth, Moira
Brady, Angela F
Clayton, Stephen
Cole, Trevor
Deshpande, Charu
Fitzgerald, Tomas W
Foulds, Nicola
Francis, Richard
Gabriel, George
Gerety, Sebastian S
Goodship, Judith
Hobson, Emma
Jones, Wendy D
Joss, Shelagh
King, Daniel
Klena, Nikolai
Kumar, Ajith
Lees, Melissa
Lelliott, Christopher
Lord, Jenny
McMullan, Dominic
O'Regan, Mary
Osio, Deborah
Piombo, Virginia
Prigmore, Elena
Rajan, Diana
Rosser, Elisabeth
Sifrim, Alejandro
Smith, Audrey
Swaminathan, Ganesh J
Turnpenny, Peter
Whitworth, James
Wright, Caroline F
Firth, Helen V
Barrett, Jeffrey C
Lo, Cecilia W
FitzPatrick, David R
Hurles, Matthew E
DDD Study
Pokaż więcej
Temat :
Genetics
Dominance (genetics)
Candidate gene
Genetic heterogeneity
Mendelian inheritance
symbols.namesake
symbols
Biology
Exome
Compound heterozygosity
Medical genetics
medicine.medical_specialty
medicine
Population
education.field_of_study
education
DDD study
Humans
Genetic Predisposition to Disease
Ubiquitin-Protein Ligases
Cell Cycle Proteins
Pedigree
Sequence Analysis, DNA
Developmental Disabilities
Genotype
Genes, Recessive
Phenotype
Family Health
Female
Male
Matrix Metalloproteinases, Secreted
Genetic Variation
Protein-Arginine N-Methyltransferases
Genetic Association Studies
United Kingdom
Article
human activities
Źródło :
Crossref
Akawi, N, McRae, J, Ansari, M, Balasubramanian, M, Blyth, M, Brady, A F, Clayton, S, Cole, T, Deshpande, C, Fitzgerald, T W, Foulds, N, Francis, R, Gabriel, G, Gerety, S S, Goodship, J, Hobson, E, Jones, W D, Joss, S, King, D, Klena, N, Kumar, A, Lees, M, Lelliott, C, Lord, J, McMullan, D, O'Regan, M, Osio, D, Piombo, V, Prigmore, E, Rajan, D, Rosser, E, Sifrim, A, Smith, A, Swaminathan, G J, Turnpenny, P, Whitworth, J, Wright, C F, Firth, H V, Barrett, J C, Lo, C W & FitzPatrick, D R & Hurles, M E 2015, ' Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families ', Nature Genetics, vol. 47, no. 11, pp. 1363-1369 . https://doi.org/10.1038/ng.3410
Nature genetics
Opis pliku :
Print-Electronic; application/pdf
Dostępność :
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24c91d0a6e441a9572fcf0cadca49592
Tytuł :
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care
Autorzy :
Wilson, Brian T.
Stark, Zornitza
Sutton, Ruth E.
Danda, Sumita
Ekbote, Alka V.
Elsayed, Solaf M.
Gibson, Louise
Goodship, Judith A.
Jackson, Andrew P.
Keng, Wee Teik
King, Mary D.
McCann, Emma
Motojima, Toshino
Murray, Jennifer E.
Omata, Taku
Pilz, Daniela
Pope, Kate
Sugita, Katsuo
White, Susan M.
Wilson, Ian J.
Pokaż więcej
Temat :
Genetics(clinical)
UV-sensitive syndrome
medicine.disease
medicine
Pediatrics
medicine.medical_specialty
Cockayne syndrome
business.industry
business
Young adult
Pathological
Medical genetics
Microcephaly
MEDLINE
Natural history
Cerebro-oculofacioskeletal syndrome
CSA (ERCC8)
CSB (ERCC6)
Clinical genetics
Neurodevelopment disorders
Prognosis
Original Research Article
cerebro-oculofacioskeletal syndrome
Źródło :
Crossref
Genetics in Medicine
Wilson, B T, Stark, Z, Sutton, R E, Danda, S, Ekbote, A V, Elsayed, S M, Gibson, L, Goodship, J A, Jackson, A P, Keng, W T, King, M D, McCann, E, Motojima, T, Murray, J E, Omata, T, Pilz, D, Pope, K, Sugita, K, White, S M & Wilson, I J 2015, ' The Cockayne Syndrome Natural History (CoSyNH) study : clinical findings in 102 individuals and recommendations for care ', Genetics in Medicine . https://doi.org/10.1038/gim.2015.110
Opis pliku :
application/pdf
Dostępność :
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a479f39027b3fc8a0ed511644cdeed86
Tytuł :
Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: meta-analysis of 7697 cases and 13,125 controls
Autorzy :
Mamasoula, Chrysovalanto
Prentice, R Reid
Pierscionek, Tomasz
Pangilinan, Faith
Mills, James L
Druschel, Charlotte
Pass, Kenneth
Russell, Mark W
Hall, Darroch
Töpf, Ana
Brown, Danielle L
Zelenika, Diana
Bentham, Jamie
Cosgrove, Catherine
Bhattacharya, Shoumo
Riveron, Javier Granados
Setchfield, Kerry
Brook, J David
Bu'Lock, Frances A
Thornborough, Chris
Rahman, Thahira J
Doza, Julian Palomino
Tan, Huay L
O'Sullivan, John
Stuart, A Graham
Blue, Gillian
Winlaw, David
Postma, Alex V
Mulder, Barbara J M
Zwinderman, Aelko H
van Engelen, Klaartje
Moorman, Antoon F M
Rauch, Anita
Gewillig, Marc
Breckpot, Jeroen
Devriendt, Koen
Lathrop, G Mark
Farrall, Martin
Goodship, Judith A
Cordell, Heather J
Brody, Lawrence C
Keavney, Bernard D
Pokaż więcej
Temat :
Institute of Medical Genetics
570 Life sciences
biology
610 Medicine & health
Źródło :
Circulation: Cardiovascular Genetics; Vol 6
Circulation. Cardiovascular genetics, 6(4), 347-353. Lippincott Williams and Wilkins
Mamasoula, Chrysovalanto; Prentice, R Reid; Pierscionek, Tomasz; Pangilinan, Faith; Mills, James L; Druschel, Charlotte; Pass, Kenneth; Russell, Mark W; Hall, Darroch; Töpf, Ana; Brown, Danielle L; Zelenika, Diana; Bentham, Jamie; Cosgrove, Catherine; Bhattacharya, Shoumo; Riveron, Javier Granados; Setchfield, Kerry; Brook, J David; Bu'Lock, Frances A; Thornborough, Chris; Rahman, Thahira J; Doza, Julian Palomino; Tan, Huay L; O'Sullivan, John; Stuart, A Graham; Blue, Gillian; Winlaw, David; Postma, Alex V; Mulder, Barbara J M; Zwinderman, Aelko H; van Engelen, Klaartje; Moorman, Antoon F M; Rauch, Anita; Gewillig, Marc; Breckpot, Jeroen; Devriendt, Koen; Lathrop, G Mark; Farrall, Martin; Goodship, Judith A; Cordell, Heather J; Brody, Lawrence C; Keavney, Bernard D (2013). Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: meta-analysis of 7697 cases and 13,125 controls. Circulation. Cardiovascular Genetics, 6(4):347-353.
Opis pliku :
application/pdf
Dostępność :
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ac6411fbb1ea9e1ff21e50e31e47ece
Tytuł :
Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus
Autorzy :
Ponting Chris P
MacArthur Katie
Campbell Jennifer
Liu Yu-Ning
Tompson Stuart
Blair Helen J
Ruiz-Perez Victor L
Goodship Judith A
Pokaż więcej
Temat :
Biology (General)
QH301-705.5
Źródło :
BMC Biology, Vol 9, Iss 1, p 14 (2011)
Opis pliku :
electronic resource
Relacje :
http://www.biomedcentral.com/1741-7007/9/14; https://doaj.org/toc/1741-7007
Dostęp URL :
https://doaj.org/article/4d867c311c3445ce9d5bb961cc43bbe9
Czasopismo naukowe

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