المؤلفون: Peyrard-Janvid, Myriam, Leslie, Elizabeth J, Kousa, Youssef A, Smith, Tiffany L, Dunnwald, Martine, Magnusson, Måns, Lentz, Brian A, Unneberg, Per, Fransson, Ingegerd, Koillinen, Hannele K, Rautio, Jorma, Pegelow, Marie, Karsten, Agneta, Basel-Vanagaite, Lina, Gordon, William, Andersen, Bogi, Svensson, Thomas, Murray, Jeffrey C, Cornell, Robert A, Kere, Juha, Schutte, Brian C

المصدر: American Journal of Human Genetics. 94(1)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Dentistry, Dental/Oral and Craniofacial Disease, Genetics, Pediatric, Rare Diseases, Clinical Research, Biotechnology, Aetiology, 2.1 Biological and endogenous factors, Congenital, Abnormalities, Multiple, Alleles, Animals, Cleft Lip, Cleft Palate, Cysts, DNA-Binding Proteins, Gene Expression Regulation, Developmental, Genotype, Humans, Hybridization, Genetic, Interferon Regulatory Factors, Lip, Mice, Mice, Knockout, Mutation, Missense, Pedigree, Phenotype, Sequence Analysis, DNA, Transcription Factors, Zebrafish, Biological Sciences, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/45g0p0vbTest

المؤلفون: Piao, Xianhua, Hill, R. Sean, Bodell, Adria, Chang, Bernard S., Basel-Vanagaite, Lina, Straussberg, Rachel, Dobyns, William B., Qasrawi, Bassam, Winter, Robin M., Innes, A. Micheil, Voit, Thomas, Ross, M. Elizabeth, Michaud, Jacques L., Déscarie, Jean-Claude, Barkovich, A. James, Walsh, Christopher A.

المصدر: Science, 2004 Mar . 303(5666), 2033-2036.

الوصول الحر: https://www.jstor.org/stable/3836350Test

المؤلفون: Akula, Shyam K., Chen, Allen Y., Neil, Jennifer E., Shao, Diane D., Mo, Alisa, Hylton, Norma K., DiTroia, Stephanie, Ganesh, Vijay S., Smith, Richard S., O’Kane, Katherine, Yeh, Rebecca C., Marciano, Jack H., Kirkham, Samantha, Kenny, Connor J., Song, Janet H. T., Al Saffar, Muna, Millan, Francisca, Harris, David J., Murphy, Andrea V., Klemp, Kara C., Braddock, Stephen R., Brand, Harrison, Wong, Isaac, Talkowski, Michael E., O’Donnell-Luria, Anne, Lai, Abbe, Hill, Robert Sean, Mochida, Ganeshwaran H., Doan, Ryan N., Barkovich, A. James, Yang, Edward, Amrom, Dina, Andermann, Eva, Poduri, Annapurna, Walsh, Christopher A., Abu-Libdeh, Bassam, Al-Gazali, Lihadh, Alva Moncayo, Edith, Anderman, Eva, Anttonen, Anna-Kaisa, Barnes, Saunder, Barnett, Sara, Barron, Todd, Barry, Brenda J., Basel-Vanagaite, Lina, Bastaki, Laila, Bello-Espinosa, Luis, Ben-Omran, Tawfeg

المصدر: JAMA Neurology ; volume 80, issue 9, page 980 ; ISSN 2168-6149

الإتاحة: https://doi.org/10.1001/jamaneurol.2023.2363Test
https://jamanetwork.com/journals/jamaneurology/articlepdf/2807207/jamaneurology_akula_2023_oi_230051_1694018368.88686.pdfTest

المؤلفون: Abbott, Jamie A., Meyer-Schuman, Rebecca, Lupo, Vincenzo, Feely, Shawna, Mademan, Inès, Oprescu, Stephanie N., Griffin, Laurie B., Alberti, M. Antonia, Casasnovas, Carlos, Aharoni, Sharon, Basel-Vanagaite, Lina, Zuchner, Stephan, De Jonghe, Peter, Baets, Jonathan, Shy, Michael E., Espinos, Carmen, Demeler, Borries, Antonellis, Anthony, Francklyn, Christopher

المصدر: 1059-7794 ; Human mutation

مصطلحات موضوعية: Human medicine

وصف الملف: pdf

العلاقة: info:eu-repo/semantics/altIdentifier/isi/000424807600011

الإتاحة: https://doi.org/10.1002/HUMU.23380Test
https://hdl.handle.net/10067/1492410151162165141Test
https://repository.uantwerpen.be/docman/irua/4ebb3e/149241_2019_03_01.pdfTest

المؤلفون: Peyrard-Janvid, Myriam, Leslie, Elizabeth J., Kousa, Youssef A., Smith, Tiffany L., Dunnwald, Martine, Magnusson, Mans, Lentz, Brian A., Unneberg, Per, Fransson, Ingegerd, Koillinen, Hannele K., Rautio, Jorma, Pegelow, Marie, Karsten, Agneta, Basel-Vanagaite, Lina, Gordon, William, Andersen, Bogi, Svensson, Thomas, Murray, Jeffrey C., Cornell, Robert A., Kere, Juha, Schutte, Brian C.

المساهمون: Department of Medical and Clinical Genetics, Plastiikkakirurgian yksikkö, Research Programs Unit, Research Programme of Molecular Medicine

مصطلحات موضوعية: POPLITEAL PTERYGIUM SYNDROME, CLEFT-PALATE, GRAINY-HEAD, GENOME-WIDE, IRF6, VARIANTS, FAMILIES, DIFFERENTIATION, DROSOPHILA, EMBRYOS, Biomedicine

وصف الملف: application/pdf

العلاقة: We greatly appreciate the many individuals affected with VWS, their family members, and clinicians for participating in this study. We would like to thank Arianna L. Smith and Mager Scientific for technical assistance; Nicole Patel for the artistic renderings of murine embryos at E13.5 and E15.5; Paivi Lahermo for providing the Finnish controls and Pat Venta for critiques. Financial support for this research was provided by the Swedish Research Council 521-2007-3133 (M.P.-J.) and 2009-5091 (J.K.), by National Institutes of Health grants DE021071 (R.A.C.), DE13513 (B.C.S.), F31DE022696 (Y.A.K.), DE08559 (J.C.M.), GM008629 (E.J.L.), AR061586 (M.D.), and AR44882 (B.A.), and by the Sigrid Juselius Foundation (J.K.).; Peyrard-Janvid , M , Leslie , E J , Kousa , Y A , Smith , T L , Dunnwald , M , Magnusson , M , Lentz , B A , Unneberg , P , Fransson , I , Koillinen , H K , Rautio , J , Pegelow , M , Karsten , A , Basel-Vanagaite , L , Gordon , W , Andersen , B , Svensson , T , Murray , J C , Cornell , R A , Kere , J & Schutte , B C 2014 , ' Dominant Mutations in GRHL3 Cause Van der Woude Syndrome and Disrupt Oral Periderm Development ' , American Journal of Human Genetics , vol. 94 , no. 1 , pp. 23-32 . https://doi.org/10.1016/j.ajhg.2013.11.009Test; http://hdl.handle.net/10138/224266Test; 30520ae9-55c2-44fb-b7bd-6cf98a2f2bbc; 84891832380; 000329888400003

الإتاحة: http://hdl.handle.net/10138/224266Test

المؤلفون: Lee, John Y. W., Hsu, Chao-Kai, Michael, Magdalene, Nanda, Arti, Liu, Lu, McMillan, James R., Pourreyron, Celine, Takeichi, Takuya, Tolar, Jakub, Reid, Evan, Hayday, Thomas, Blumen, Sergiu C., Abu-Mouch, Saif, Straussberg, Rachel, Basel-Vanagaite, Lina, Barhum, Yael, Zouabi, Yasmin, Al-Ajmi, Hejab, Huang, Hsin-Yu, Lin, Ting-Chien, Akiyama, Masashi, Lee, Julia Y. Y., McLean, W. H. Irwin, Simpson, Michael A., Parsons, Maddy, McGrath, John A.

المصدر: Lee , J Y W , Hsu , C-K , Michael , M , Nanda , A , Liu , L , McMillan , J R , Pourreyron , C , Takeichi , T , Tolar , J , Reid , E , Hayday , T , Blumen , S C , Abu-Mouch , S , Straussberg , R , Basel-Vanagaite , L , Barhum , Y , Zouabi , Y , Al-Ajmi , H , Huang , H-Y , Lin , T-C , Akiyama , M , Lee , J Y Y , McLean , W H I ....

مصطلحات موضوعية: Mutation, Deletion, DSTYK, Autosomal-recessive, Hereditary spastic paraplegia, Spastic Paraplegia 23, Gene amplification, Whole-exome sequencing, Pigmentation, Vitiligo

وصف الملف: application/pdf

العلاقة: https://discovery.dundee.ac.uk/en/publications/0605f563-a75e-4039-b760-5ab057b0aa22Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2017.01.014Test
https://discovery.dundee.ac.uk/en/publications/0605f563-a75e-4039-b760-5ab057b0aa22Test
https://discovery.dundee.ac.uk/ws/files/13137071/1_s2.0_S0002929717300149_main.pdfTest

المؤلفون: Salpietro, Vincenzo, Lin, Weichun, Delle Vedove, Andrea, Storbeck, Markus, Liu, Yun, Efthymiou, Stephanie, Manole, Andreea, Wiethoff, Sarah, Ye, Qiaohong, Saggar, Anand, Mcelreavey, Ken, Krishnakumar, Shyam, Pitt, Matthew, Bello, Oscar, Rothman, James, Basel-Vanagaite, Lina, Hubshman, Monika Weisz, Aharoni, Sharon, Manzur, Adnan, Wirth, Brunhilde, Houlden, Henry

المساهمون: University College of London London (UCL), University of Texas Southwestern Medical Center Dallas, Center for Molecular Medicine Cologne (CMMC), University of Cologne, St George’s University Hospitals, Génétique du Développement humain - Human developmental genetics, Institut Pasteur Paris (IP), Yale School of Medicine New Haven, Connecticut (YSM), Great Ormond Street Hospital for Children London (GOSH), Tel Aviv University (TAU), Schneider Children’s Medical Center of Israel Petah Tikva, Rabin Medical Center Tel Aviv, Israël, This study was supported by the Wellcome Trust (WT093205MA, WT104033AIA), Medical Research Council (H.H.), European Community's Seventh Framework Programme (FP7/2007-2013, under grant agreement No. 2012-305121, B.W., H.H.), National Institute for Health Research University College London Hospitals Biomedical Research Centre (H.H. and National Institutes of Health (NIH, NS-055028, W.L.)., SYNAPS Study Group, European Project: 305121,EC:FP7:HEALTH,FP7-HEALTH-2012-INNOVATION-1,NEUROMICS(2012)

المصدر: ISSN: 0364-5134.

مصطلحات موضوعية: MESH: Animals, MESH: Child, Preschool, MESH: Consanguinity, MESH: Disease Models, Animal, MESH: Female, MESH: Homozygote, MESH: Humans, MESH: Israel, MESH: Kuwait, MESH: Male, MESH: Mice, Transgenic, MESH: Myasthenic Syndromes, Congenital, MESH: Neuromuscular Junction, MESH: Pedigree, MESH: Vesicle-Associated Membrane Protein 1, MESH: Codon, Nonsense, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28253535; info:eu-repo/grantAgreement/EC/FP7/305121/EU/Integrated European –omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases/NEUROMICS; pasteur-03521847; https://pasteur.hal.science/pasteur-03521847Test; https://pasteur.hal.science/pasteur-03521847/documentTest; https://pasteur.hal.science/pasteur-03521847/file/Annals%20of%20Neurology%20-%202017%20-%20Salpietro%20-%20Homozygous%20mutations%20in%20VAMP1%20cause%20a%20presynaptic%20congenital%20myasthenic%20syndrome.pdfTest; PUBMED: 28253535; PUBMEDCENTRAL: PMC5413866

الإتاحة: https://doi.org/10.1002/ana.24905Test
https://pasteur.hal.science/pasteur-03521847Test
https://pasteur.hal.science/pasteur-03521847/documentTest
https://pasteur.hal.science/pasteur-03521847/file/Annals%20of%20Neurology%20-%202017%20-%20Salpietro%20-%20Homozygous%20mutations%20in%20VAMP1%20cause%20a%20presynaptic%20congenital%20myasthenic%20syndrome.pdfTest

المؤلفون: Weisz Hubshman, Monika, Broekman, Sanne, van Wijk, Erwin, Cremers, Frans, Abu-Diab, Alaa, Khateb, Samer, Tzur, Shay, Lagovsky, Irina, Smirin-Yosef, Pola, Sharon, Dror, Haer-Wigman, Lonneke, Banin, Eyal, Basel-Vanagaite, Lina, de Vrieze, Erik

المساهمون: Foundation Fighting Blindness

المصدر: Human Molecular Genetics ; volume 27, issue 4, page 614-624 ; ISSN 0964-6906 1460-2083

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, General Medicine

الإتاحة: https://doi.org/10.1093/hmg/ddx428Test
http://academic.oup.com/hmg/article-pdf/27/4/614/23760010/ddx428.pdfTest

المؤلفون: Weiss, Karin, Terhal, Paulien A., Cohen, Lior, Bruccoleri, Michael, Irving, Melita, Martinez, Ariel F., Rosenfeld, Jill A., Machol, Keren, Yang, Yaping, Liu, Pengfei, Walkiewicz, Magdalena, Beuten, Joke, Gomez-Ospina, Natalia, Haude, Katrina, Fong, Chin-To, Enns, Gregory M., Bernstein, Jonathan A., Fan, Judith, Gotway, Garrett, Ghorbani, Mohammad, van Gassen, Koen, Monroe, Glen R., van Haaften, Gijs, Basel-Vanagaite, Lina, Yang, Xiang-Jiao, Campeau, Philippe M., Muenke, Maximilian

المساهمون: Health Innovation Challenge Fund, Wellcome Trust Sanger Institute, Canadian Institutes of Health Research Grants, Fonds de Recherche du Québec Santé

المصدر: The American Journal of Human Genetics ; volume 99, issue 4, page 934-941 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2016.08.001Test
https://api.elsevier.com/content/article/PII:S000292971630324X?httpAccept=text/plainTest
https://api.elsevier.com/content/article/PII:S000292971630324X?httpAccept=text/xmlTest

المؤلفون: Kumar, Raman, Corbett, Mark A., Van Bon, Bregje W.M., Gardner, Alison, Woenig, Joshua A., Jolly, Lachlan A., Douglas, Evelyn, Friend, Kathryn, Tan, Chuan, Van Esch, Hilde, Holvoet, Maureen, Raynaud, Martine, Field, Michael, Leffler, Melanie, Budny, Bartłomiej, Wisniewska, Marzena, Badura-Stronka, Magdalena, Latos-Bieleńska, Anna, Batanian, Jacqueline, Rosenfeld, Jill A., Basel-Vanagaite, Lina, Jensen, Corinna, Bienek, Melanie, Froyen, Guy, Ullmann, Reinhard, Hu, Hao, Love, Michael I., Haas, Stefan A., Stankiewicz, Pawel, Cheung, Sau Wai, Baxendale, Anne, Nicholl, Jillian, Thompson, Elizabeth M., Haan, Eric, Kalscheuer, Vera M., Gecz, Jozef

المساهمون: Channel 7 Children's Research Foundation, MS McLeod Research Fellowship, WCH Foundation, EU FP7 project GENCODYS

المصدر: Human Molecular Genetics ; volume 24, issue 25, page 7171-7181 ; ISSN 0964-6906 1460-2083

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, General Medicine

الإتاحة: https://doi.org/10.1093/hmg/ddv414Test
http://academic.oup.com/hmg/article-pdf/24/25/7171/17262245/ddv414.pdfTest