المؤلفون: HA, Thoa, MORGAN, Angela, BARTOS, Meghan N, BEATTY, Katelyn, COGNÉ, Benjamin, BRAUN, Dominique, GERBER, Céline B, GASPAR, Harald, KOPPS, Anna M, RIEUBLAND, Claudine, HURST, Anna C E, AMOR, David J, NIZON, Mathilde, PASQUIER, Laurent, PFUNDT, Rolph, REIS, André, SIU, Victoria Mok, TESSARECH, Marine, THOMPSON, Michelle L, VINCENT, Marie, DE VRIES, Bert B A, WALSH, Matthew B, WECHSLER, Stephanie Burns, ZWEIER, Christiane, SCHNUR, Rhonda E, GUILLEN SACOTO, Maria J, MARGOT, Henri, MASOTTO, Barbara, PALAFOLL, Maria Irene Valenzuela, NAWAZ, Urwah, VOINEAGU, Irina, SLAVOTINEK, Anne

مصطلحات موضوعية: Developmental delay, DIP2, DIP2C, Intellectual disability, Speech articulation, Speech delay, Sciences du Vivant [q-bio]/Génétique

الاتاحة: https://oskar-bordeaux.fr/handle/20.500.12278/204056
https://hdl.handle.net/20.500.12278/204056
https://doi.org/10.1002/ajmg.a.63559

المؤلفون: Padhye, Bhavna D., Nawaz, Urwah, Hains, Peter G., Reddel, Roger R., Robinson, Phillip J., Zhong, Qing, Poulos, Rebecca C.

المساهمون: Australian Cancer Research Foundation, NSW Ministry of Health, University of Sydney, Cancer Council NSW, Ian Potter Foundation, National Health and Medical Research Council, National Breast Cancer Foundation, Cancer Institute NSW

المصدر: Pediatric Blood & Cancer ; volume 71, issue 6 ; ISSN 1545-5009 1545-5017

الاتاحة: http://dx.doi.org/10.1002/pbc.30980
https://onlinelibrary.wiley.com/doi/pdf/10.1002/pbc.30980

المؤلفون: Ha, Thoa, Morgan, Angela, Bartos, Meghan N, Beatty, Katelyn, Cogné, Benjamin, Braun, Dominique, Gerber, Céline B, Gaspar, Harald, Kopps, Anna M, Rieubland, Claudine, Hurst, Anna C E, Amor, David J, Nizon, Mathilde, Pasquier, Laurent, Pfundt, Rolph, Reis, André, Siu, Victoria Mok, Tessarech, Marine, Thompson, Michelle L, Vincent, Marie, de Vries, Bert B A, Walsh, Matthew B, Wechsler, Stephanie Burns, Zweier, Christiane, Schnur, Rhonda E, Guillen Sacoto, Maria J, Margot, Henri, Masotto, Barbara, Palafoll, Maria Irene Valenzuela, Nawaz, Urwah, Voineagu, Irina, Slavotinek, Anne

المصدر: Ha, Thoa; Morgan, Angela; Bartos, Meghan N; Beatty, Katelyn; Cogné, Benjamin; Braun, Dominique; Gerber, Céline B; Gaspar, Harald; Kopps, Anna M; Rieubland, Claudine; Hurst, Anna C E; Amor, David J; Nizon, Mathilde; Pasquier, Laurent; Pfundt, Rolph; Reis, André; Siu, Victoria Mok; Tessarech, Marine; Thompson, Michelle L; Vincent, Marie; . (2024). De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay. American journal of medical genetics. Part A, 194(7), e63559. Wiley-Liss 10.1002/ajmg.a.63559

مصطلحات موضوعية: 610 Medicine & health

وصف الملف: application/pdf

Relation: https://boris.unibe.ch/193646/

الاتاحة: https://boris.unibe.ch/193646/1/American_J_of_Med_Genetics_Pt_A_-_2024_-_Ha_-_De_novo_variants_predicting_haploinsufficiency_for_DIP2C_are_associated_with.pdf
https://boris.unibe.ch/193646/

المؤلفون: Domingo, Deepti, Nawaz, Urwah, Corbett, Mark, Espinoza, Josh, Tatton-Brown, Katrina, Coman, David, Gecz, Jozef, Jolly, Lachlan, Wilkinson, Miles

المصدر: Human Molecular Genetics. 29(15)

مصطلحات موضوعية: Cell Line, Child, Preschool, Codon, Nonsense, Gene Regulatory Networks, Humans, Infant, Loss of Function Mutation, Male, Neurodevelopmental Disorders, Nonsense Mediated mRNA Decay, RNA Splicing, RNA, Messenger, RNA-Binding Proteins, Silent Mutation, Speech Disorders

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9ck6w1nj

المؤلفون: Dias, Kerith-Raie, Carlston, Colleen M., Blok, Laura E., De Hayr, Lachlan, Nawaz, Urwah, Evans, Carey-Anne, Bayrak-Toydemir, Pinar, Htun, Stephanie, Zhu, Ying, Ma, Alan, Lynch, Sally A., Moorwood, Catherine, Stals, Karen, Ellard, Sian, Bainbridge, Matthew N., Friedman, Jennifer, Pappas, John G., Rabin, Rachel, Nowak, Catherine B., Douglas, Jessica, Wilson, Theodore E., Guillen Sacoto, Maria J., Mullegama, Sureni V., Palculict, Timothy B., Kirk, Edwin P., Pinner, Jason, Edwards, Matthew (R16367), Montanari, Francesca, Graziano, Claudio, Pippucci, Tommaso, Dingmann, Bri, Glass, Ian, Mefford, Heather C., Shimoji, Takeyoshi, Suzuki, Toshimitsu, Yamakawa, Kazuhiro, Streff, Haley, Schaaf, Christian P., Slavotinek, Anne M., Voineagu, Irina, Carey, John C., Buckley, Michael F., Schenck, Annette, Harvey, Robert J., Roscioli, Tony

مصطلحات موضوعية: 320213 - Medical genetics (excl. cancer genetics), 200101 - Diagnosis of human diseases and conditions

وصف الملف: print

Relation: NHMRC APP1117394; http://purl.org/au-research/grants/nhmrc/1117394; Genetics in Medicine--1098-3600--1530-0366 Vol. 24 Issue. 9 No. pp: 1952-1966

الاتاحة: https://doi.org/10.1016/j.gim.2022.06.001
https://hdl.handle.net/1959.7/uws:69527

المؤلفون: Dias, Kerith-Rae, Carlston, Colleen M., Blok, Laura E. R., De Hayr , Lachlan, Nawaz, Urwah, Evans, Carey-Anne, Bayrak-Toydemir, Pinar, Htun, Stephanie, Zhu, Ying, Ma, Alan, Lynch, Sally Ann, Moorwood, Catherine, Stals , Karen, Ellard, Sian, Bainbridge, Matthew N., Friedman, Jennifer, Pappas, John G., Rabin , Rachel, Nowak, Catherine B., Douglas, Jessica, Wilson, Theodore E., Guillen Sacoto, Maria J., Mullegama, Sureni V., Palculict , Timothy Blake, Kirk, Edwin P., Pinner, Jason R., Edwards, Matthew, Montanari, Francesca, Graziano, Claudio, Pippucci, Tommaso, Dingmann, Bri, Glass , Ian, Mefford , Heather C., Shimoji , Takeyoshi, Suzuki, Toshimitsu, Yamakawa, Kazuhiro, Streff, Haley, Schaaf, Christian P., Slavotinek, Anne M., Voineagu , Irina, Carey, John C., Buckley, Michael F., Schenck, Annette, Harvey, Robert J., Roscioli , Tony

المساهمون: Medical and Molecular Genetics, School of Medicine

المصدر: Publisher

مصطلحات موضوعية: Developmental delay, Intellectual disability, Protein hub, Zinc finger MYND domain-containing protein 8, ZMYND8

وصف الملف: application/pdf

Relation: Genetics in Medicine; Dias, K.-R., Carlston, C. M., Blok, L. E. R., De Hayr, L., Nawaz, U., Evans, C.-A., Bayrak-Toydemir, P., Htun, S., Zhu, Y., Ma, A., Lynch, S. A., Moorwood, C., Stals, K., Ellard, S., Bainbridge, M. N., Friedman, J., Pappas, J. G., Rabin, R., Nowak, C. B., … Roscioli, T. (2022). De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations. Genetics in Medicine, 24(9), 1952–1966. https://doi.org/10.1016/j.gim.2022.06.001; https://hdl.handle.net/1805/41415

الاتاحة: https://hdl.handle.net/1805/41415

المؤلفون: Sutton, Gavin J., Poppe, Daniel, Simmons, Rebecca K., Walsh, Kieran, Nawaz, Urwah, Lister, Ryan, Gagnon-Bartsch, Johann A., Voineagu, Irina

المصدر: Nature Communications ; volume 13, issue 1 ; ISSN 2041-1723

الاتاحة: http://dx.doi.org/10.1038/s41467-022-28655-4
https://www.nature.com/articles/s41467-022-28655-4.pdf
https://www.nature.com/articles/s41467-022-28655-4

المؤلفون: Palmer, Elizabeth E., Carroll, Renee, Shaw, Marie, Kumar, Raman, Minoche, Andre E., Leffler, Melanie, Murray, Lucinda, Macintosh, Rebecca, Wright, Dale, Troedson, Chris, McKenzie, Fiona, Townshend, Sharron, Ward, Michelle, Nawaz, Urwah, Ravine, Anja, Runke, Cassandra K., Thorland, Erik C., Hummel, Marybeth, Foulds, Nicola, Pichon, Olivier, Isidor, Bertrand, Le Caignec, Cédric, Demeer, Bénédicte, Andrieux, Joris, Albarazi, Salam Hadah, Bye, Ann, Sachdev, Rani, Kirk, Edwin P., Cowley, Mark J., Field, Mike, Gecz, Jozef

المساهمون: National Health and Medical Research Council

المصدر: The American Journal of Human Genetics ; volume 107, issue 6, page 1157-1169 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2020.10.005
https://api.elsevier.com/content/article/PII:S0002929720303633?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929720303633?httpAccept=text/plain

المؤلفون: Johnson, Jennifer L, Stoica, Loredana, Liu, Yuwei, Zhu, Ping Jun, Bhattacharya, Abhisek, Buffington, Shelly, Huq, Redwan, Eissa, N Tony, Larsson, Ola, Porse, Bo T, Domingo, Deepti, Nawaz, Urwah, Carroll, Renee, Jolly, Lachlan, Scerri, Tom S, Kim, Hyung-Goo, Brignell, Amanda, Coleman, Matthew J, Braden, Ruth, Kini, Usha, Jackson, Victoria, Baxter, Anne, Bahlo, Melanie, Scheffer, Ingrid E, Amor, David J, Hildebrand, Michael S, Bonnen, Penelope E, Beeton, Christine, Gecz, Jozef, Morgan, Angela T, Costa-Mattioli, Mauro

المصدر: Johnson , J L , Stoica , L , Liu , Y , Zhu , P J , Bhattacharya , A , Buffington , S , Huq , R , Eissa , N T , Larsson , O , Porse , B T , Domingo , D , Nawaz , U , Carroll , R , Jolly , L , Scerri , T S , Kim , H-G , Brignell , A , Coleman , M J , Braden , R , Kini , U , Jackson , V , Baxter , A , Bahlo , M , Scheffer ....

الاتاحة: https://curis.ku.dk/portal/da/publications/inhibition-of-upf2dependent-nonsensemediated-decay-leads-to-behavioral-and-neurophysiological-abnormalities-by-activating-the-immune-response(5f7abb30-36a6-495a-be6e-42dcf50f7331).html
https://doi.org/10.1016/j.neuron.2019.08.027
http://europepmc.org/articles/pmc7312756?pdf=render

المؤلفون: Dias, Kerith-Rae, Carlston, Colleen M., Blok, Laura E.R., De Hayr, Lachlan, Nawaz, Urwah, Evans, Carey-Anne, Bayrak-Toydemir, Pinar, Htun, Stephanie, Zhu, Ying, Ma, Alan, Lynch, Sally Ann, Moorwood, Catherine, Stals, Karen, Ellard, Sian, Bainbridge, Matthew N., Friedman, Jennifer, Pappas, John G., Rabin, Rachel, Nowak, Catherine B., Douglas, Jessica, Wilson, Theodore E., Guillen Sacoto, Maria J., Mullegama, Sureni V., Palculict, Timothy Blake, Kirk, Edwin P., Pinner, Jason R., Edwards, Matthew, Montanari, Francesca, Graziano, Claudio, Pippucci, Tommaso, Dingmann, Bri, Glass, Ian, Mefford, Heather C., Shimoji, Takeyoshi, Suzuki, Toshimitsu, Yamakawa, Kazuhiro, Streff, Haley, Schaaf, Christian P., Slavotinek, Anne M., Voineagu, Irina, Carey, John C., Buckley, Michael F., Schenck, Annette, Harvey, Robert J., Roscioli, Tony

المصدر: Genetics in Medicine; September 2022, Vol. 24 Issue: 9 p1952-1966, 15p