المؤلفون: Holt, Richard, Goudie, David, Verde, Alejandra Damián, Gardham, Alice, Ramond, Francis, Putoux, Audrey, Sarkar, Ajoy, Clowes, Virginia, Clayton-Smith, Jill, Banka, Siddharth, Cortazar Galarza, Laura, Thuret, Gilles, Ubeda Erviti, Marta, Zurutuza Ibarguren, Ane, Sáez Villaverde, Raquel, Tamayo Durán, Alejandra, Ayuso, Carmen, Bax, Dorine A., Plaisancie, Julie, Corton, Marta, Chassaing, Nicolas, Calvas, Patrick, Ragge, Nicola K.

المصدر: Holt , R , Goudie , D , Verde , A D , Gardham , A , Ramond , F , Putoux , A , Sarkar , A , Clowes , V , Clayton-Smith , J , Banka , S , Cortazar Galarza , L , Thuret , G , Ubeda Erviti , M , Zurutuza Ibarguren , A , Sáez Villaverde , R , Tamayo Durán , A , Ayuso , C , Bax , D A , Plaisancie , J , Corton , M , Chassaing , N , Calvas , P & Ragge , N K ....

مصطلحات موضوعية: coloboma, FZD5, genetic testing, microphthalmia, patient care, penetrance, Wnt signalling pathway, /dk/atira/pure/subjectarea/asjc/2700/2735, name=Pediatrics, Perinatology, and Child Health, /dk/atira/pure/subjectarea/asjc/2700/2731, name=Ophthalmology, /dk/atira/pure/subjectarea/asjc/2700/2716, name=Genetics(clinical)

وصف الملف: application/pdf

العلاقة: https://discovery.dundee.ac.uk/en/publications/45060b1a-099c-4e3c-bc12-72b84ee0df0fTest

الإتاحة: https://doi.org/10.1080/13816810.2022.2144905Test
https://discovery.dundee.ac.uk/en/publications/45060b1a-099c-4e3c-bc12-72b84ee0df0fTest
https://discovery.dundee.ac.uk/ws/files/96639074/Individuals_with_heterozygous_variants_in_the_Wnt_signalling_pathway_gene_FZD5_delineate_a_phenotype_characterized_by_isolated_coloboma_and_variable.pdfTest
http://www.scopus.com/inward/record.url?scp=85147047753&partnerID=8YFLogxKTest

المؤلفون: Goudie, David, Verde, Alejandra Damián, Gardham, Alice, Ramond, Francis, Putoux, Audrey, Sarkar, Ajoy, Clowes, Virginia, Clayton-Smith, Jill, Banka, Siddharth, Cortazar Galarza, Laura, Thuret, Gilles, Ubeda Erviti, Marta, Zurutuza Ibarguren, Ane, Sáez Villaverde, Raquel, Tamayo Durán, Alejandra, Ayuso, Carmen, Bax, Dorine A, Plaisancie, Julie, Corton, Marta, Chassaing, Nicolas, Calvas, Patrick, Ragge, Nicola K

المصدر: Goudie , D , Verde , A D , Gardham , A , Ramond , F , Putoux , A , Sarkar , A , Clowes , V , Clayton-Smith , J , Banka , S , Cortazar Galarza , L , Thuret , G , Ubeda Erviti , M , Zurutuza Ibarguren , A , Sáez Villaverde , R , Tamayo Durán , A , Ayuso , C , Bax , D A , Plaisancie , J , Corton , M , Chassaing , N , Calvas , P & Ragge , N K 2022 , ' Individuals ....

مصطلحات موضوعية: FZD5, Wnt signalling pathway, Coloboma, Genetic testing, Microphthalmia, Patient care, Penetrance

العلاقة: https://research.manchester.ac.uk/en/publications/42a262ad-4683-4db6-8bf3-9289adeb36b1Test

الإتاحة: https://doi.org/10.1080/13816810.2022.2144905Test
https://research.manchester.ac.uk/en/publications/42a262ad-4683-4db6-8bf3-9289adeb36b1Test
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=pure_starter&SrcAuth=WosAPI&KeyUT=WOS:000922727100011&DestLinkType=FullRecord&DestApp=WOSTest

المؤلفون: Marie Bernkopf, Ummi B. Abdullah, Stephen J. Bush, Katherine A. Wood, Sahar Ghaffari, Eleni Giannoulatou, Nils Koelling, Geoffrey J. Maher, Loïc M. Thibaut, Jonathan Williams, Edward M. Blair, Fiona Blanco Kelly, Angela Bloss, Emma Burkitt-Wright, Natalie Canham, Alexander T. Deng, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Alice Gardham, Eleanor Hay, Muriel Holder, Tessa Homfray, Jane A. Hurst, Diana Johnson, Wendy D. Jones, Usha Kini, Emma Kivuva, Ajith Kumar, Melissa M. Lees, Harry G. Leitch, Jenny E. V. Morton, Andrea H. Németh, Shwetha Ramachandrappa, Katherine Saunders, Deborah J. Shears, Lucy Side, Miranda Splitt, Alison Stewart, Helen Stewart, Mohnish Suri, Penny Clouston, Robert W. Davies, Andrew O. M. Wilkie, Anne Goriely

مصطلحات موضوعية: Multidisciplinary, General Physics and Astronomy, General Chemistry, General Biochemistry, Genetics and Molecular Biology, genetic testing, molecular medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76bf88920a9871c3309050087671a5e5Test
https://ora.ox.ac.uk/objects/uuid:fbd753bb-bb10-43b5-882b-7986c496db39Test

المؤلفون: Verde, AD, Gardham, A, Ramond, F, Putoux, A, Clowes, V, Clayton-Smith, J, Banka, S, Galarza, LC, Thuret, G, Erviti, MU, Ibarguren, AZ, Villaverde, RS, Durán, AT, Ayuso, C, Plaisancie, J, Corton, M, Chassaing, N, Calvas, P, Ragge, NK

المصدر: Verde , AD , Gardham , A , Ramond , F , Putoux , A , Clowes , V , Clayton-Smith , J , Banka , S , Galarza , LC , Thuret , G , Erviti , MU , Ibarguren , AZ , Villaverde , RS , Durán , AT , Ayuso , C , Plaisancie , J , Corton , M , Chassaing , N , Calvas , P & Ragge , NK 2022 , ' Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity ' ....

مصطلحات موضوعية: FZD5, Wnt signalling pathway, Coloboma, Genetic testing, Microphthalmia, Patient care, Penetrance

العلاقة: https://research.manchester.ac.uk/en/publications/fd3c8abe-998e-4ea0-b17c-d3c299621cdcTest

الإتاحة: https://doi.org/10.1080/13816810.2022.2144905Test
https://research.manchester.ac.uk/en/publications/fd3c8abe-998e-4ea0-b17c-d3c299621cdcTest
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=pure_starter&SrcAuth=WosAPI&KeyUT=WOS:000922727100011&DestLinkType=FullRecord&DestApp=WOSTest

المؤلفون: Holt, Richard, Goudie, David, Verde, Alejandra Damián, Gardham, Alice, Ramond, Francis, Putoux, Audrey, Sarkar, Ajoy, Clowes, Virginia, Clayton-Smith, Jill, Banka, Siddharth, Cortazar Galarza, Laura, Thuret, Gilles, Ubeda Erviti, Marta, Zurutuza Ibarguren, Ane, Sáez Villaverde, Raquel, Tamayo Durán, Alejandra, Ayuso, Carmen, Bax, Dorine A, Plaisancie, Julie, Corton, Marta

المصدر: Ophthalmic Genetics; Dec2022, Vol. 43 Issue 6, p809-816, 8p

مصطلحات موضوعية: GENETIC variation, EXOMES, SELF-expression, PHENOTYPES, MICROPHTHALMIA, GENETIC testing, GENES

مصطلحات جغرافية: SPAIN

المؤلفون: Neeti Ghali, Vinod Varghese, Frances Gibbon, Andrew E. Fry, Andrew G. L. Douglas, Meena Balasubramanian, Catharina (Nienke) M.L. Volker-Touw, Sally Ann Lynch, Mayy El Gamal, Michael Parker, Anna Durkin, Katherine Lachlan, Denise Williams, Alice Gardham, Volker Straub, Ruth Newbury-Ecob, Virginia Clowes, Ana Beleza, Shadi Albaba, Jenny Morton, Natalie Canham, Peter D Turnpenny

المصدر: American journal of medical genetics. Part AREFERENCES. 182(7)

مصطلحات موضوعية: 0301 basic medicine, Proband, Male, Pediatrics, medicine.medical_specialty, Microcephaly, Adolescent, Haploinsufficiency, Heterogeneous-Nuclear Ribonucleoprotein U, 030105 genetics & heredity, Craniofacial Abnormalities, 03 medical and health sciences, Pregnancy, Seizures, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Craniofacial, Child, Genetics (clinical), Exome sequencing, Genetic testing, medicine.diagnostic_test, business.industry, Brain, Infant, Syndrome, medicine.disease, 030104 developmental biology, Palpebral fissure, Neurodevelopmental Disorders, Child, Preschool, Female, business

وصف الملف: text; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb739e04574a88b3a701d9876f21a8a7Test
https://pubmed.ncbi.nlm.nih.gov/32319732Test

المؤلفون: Elizabeth Forsythe, Nick Goulden, Alice Gardham

المصدر: Clinical dysmorphology. 21(3)

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Mutation, Missense, Dentistry, Core Binding Factor Alpha 1 Subunit, Pathology and Forensic Medicine, Medicine, Humans, Genetic Testing, Genetics (clinical), Germ-Line Mutation, Gene Rearrangement, Cleidocranial Dysplasia, Proto-Oncogene Proteins c-ets, business.industry, Infant, General Medicine, Exons, Precursor Cell Lymphoblastic Leukemia-Lymphoma, Repressor Proteins, Child, Preschool, Pediatrics, Perinatology and Child Health, Core Binding Factor Alpha 2 Subunit, Lymphoblastic leukaemia, Anatomy, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37b266dee331b120d80fd9e537383d08Test
https://pubmed.ncbi.nlm.nih.gov/22569278Test