المؤلفون: Ansari, Morad, Faour, Kamli N. W., Shimamura, Akiko, Grimes, Graeme, Kao, Emeline M., Denhoff, Erica R., Blatnik, Ana, Ben-Isvy, Daniel, Wang, Lily, Helm, Benjamin M., Firth, Helen, Breman, Amy M., Bijlsma, Emilia K., Iwata-Otsubo, Aiko, de Ravel, Thomy J. L., Fusaro, Vincent, Fryer, Alan, Nykamp, Keith, Stühn, Lara G., Haack, Tobias B., Korenke, G. Christoph, Constantinou, Panayiotis, Bujakowska, Kinga M., Low, Karen J., Place, Emily, Humberson, Jennifer, Napier, Melanie P., Hoffman, Jessica, Juusola, Jane, Deardorff, Matthew A., Shao, Wanqing, Rockowitz, Shira, Krantz, Ian, Kaur, Maninder, Raible, Sarah, Dortenzio, Victoria, Kliesch, Sabine, Singer-Berk, Moriel, Groopman, Emily, DiTroia, Stephanie, Ballal, Sonia, Srivastava, Siddharth, Rothfelder, Kathrin, Biskup, Saskia, Rzasa, Jessica, Kerkhof, Jennifer, McConkey, Haley, Sadikovic, Bekim, Hilton, Sarah, Banka, Siddharth, Tüttelmann, Frank, Conrad, Donald F., O'Donnell-Luria, Anne, Talkowski, Michael E., FitzPatrick, David R., Boone, Philip M.

المساهمون: Medical and Molecular Genetics, School of Medicine

المصدر: PMC

مصطلحات موضوعية: Cornelia de Lange syndrome, SMC3, Loss-of-function, Cohesin, CdLS3, LoF

وصف الملف: application/pdf

العلاقة: Human Genetics and Genomics Advances; Ansari M, Faour KNW, Shimamura A, et al. Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features. HGG Adv. 2024;5(2):100273. doi:10.1016/j.xhgg.2024.100273; https://hdl.handle.net/1805/41518Test

الإتاحة: https://doi.org/10.1016/j.xhgg.2024.100273Test
https://hdl.handle.net/1805/41518Test

المؤلفون: Fountain, Michael D, Oleson, David S, Rech, Megan E, Segebrecht, Lara, Hunter, Jill V, McCarthy, John M, Lupo, Philip J, Holtgrewe, Manuel, Moran, Rocio, Rosenfeld, Jill A, Isidor, Bertrand, Le Caignec, Cédric, Saenz, Margarita S, Pedersen, Robert C, Morgan, Thomas M, Pfotenhauer, Jean P, Xia, Fan, Bi, Weimin, Kang, Sung-Hae L, Patel, Ankita, Krantz, Ian D, Raible, Sarah E, Smith, Wendy, Cristian, Ingrid, Torti, Erin, Juusola, Jane, Millan, Francisca, Wentzensen, Ingrid M, Person, Richard E, Küry, Sébastien, Bézieau, Stéphane, Uguen, Kévin, Férec, Claude, Munnich, Arnold, van Haelst, Mieke, Lichtenbelt, Klaske D, van Gassen, Koen, Hagelstrom, Tanner, Chawla, Aditi, Perry, Denise L, Taft, Ryan J, Jones, Marilyn, Masser-Frye, Diane, Dyment, David, Venkateswaran, Sunita, Li, Chumei, Escobar, Luis F, Horn, Denise, Spillmann, Rebecca C, Peña, Loren, Wierzba, Jolanta, Strom, Tim M, Parenti, Ilaria, Kaiser, Frank J, Ehmke, Nadja, Schaaf, Christian P

المصدر: Genetics in Medicine. 21(8)

مصطلحات موضوعية: Biological Sciences, Genetics, Brain Disorders, Neurosciences, Behavioral and Social Science, Clinical Research, Pediatric, Congenital Structural Anomalies, Intellectual and Developmental Disabilities (IDD), Mental Health, Autism, Aetiology, 2.1 Biological and endogenous factors, Mental health, Adolescent, Autism Spectrum Disorder, Child, Child, Preschool, Chromosome Deletion, DNA-Binding Proteins, Genome, Human, Haploinsufficiency, Humans, Infant, Infant, Newborn, Intellectual Disability, Language Development Disorders, Neurodevelopmental Disorders, Nuclear Proteins, Phenotype, Problem Behavior, Proteins, Exome Sequencing, USP7, neurodevelopment, speech delay, white matter paucity, corpus callosum thinning, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0h47s4s0Test

المؤلفون: Kline, Antonie D, Krantz, Ian D, Bando, Masashige, Shirahige, Katsuhiko, Chea, Stephenson, Sakata, Toyonori, Rao, Suhas, Dorsett, Dale, Singh, Vijay Pratap, Gerton, Jennifer L, Horsfield, Julia A, Calof, Anne L, Katz, Olivia, Grados, Marco, Raible, Sarah, Barañano, Kristin, Lyon, Gholson, Musio, Antonio, Carrico, Cheri S, Clemens, Douglas K, Caudill, Patti, Massa, Valentina, McGill, Bryan E, Dommestrup, Aila, O'Connor, Julia, Haaland, Richard E

المصدر: American Journal of Medical Genetics Part A. 179(6)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Neurosciences, Rare Diseases, Pediatric, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Aetiology, 2.1 Biological and endogenous factors, Congenital, Cell Cycle Proteins, Chromosomal Proteins, Non-Histone, De Lange Syndrome, Genetic Association Studies, Genetic Predisposition to Disease, Humans, behavior, CdLS, cohesin complex, de Lange syndrome, loop domains, transcription regulation, Clinical Sciences, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/361874t8Test

المؤلفون: Dowsett, Leah, Porras, Antonio R, Kruszka, Paul, Davis, Brandon, Hu, Tommy, Honey, Engela, Badoe, Eben, Thong, Meow‐Keong, Leon, Eyby, Girisha, Katta M, Shukla, Anju, Nayak, Shalini S, Shotelersuk, Vorasuk, Megarbane, Andre, Phadke, Shubha, Sirisena, Nirmala D, Dissanayake, Vajira HW, Ferreira, Carlos R, Kisling, Monisha S, Tanpaiboon, Pranoot, Uwineza, Annette, Mutesa, Leon, Tekendo‐Ngongang, Cedrik, Wonkam, Ambroise, Fieggen, Karen, Batista, Leticia Cassimiro, Moretti‐Ferreira, Danilo, Stevenson, Roger E, Prijoles, Eloise J, Everman, David, Clarkson, Kate, Worthington, Jessica, Kimonis, Virginia, Hisama, Fuki, Crowe, Carol, Wong, Paul, Johnson, Kisha, Clark, Robin D, Bird, Lynne, Masser‐Frye, Diane, McDonald, Marie, Willems, Patrick, Roeder, Elizabeth, Saitta, Sulgana, Anyane‐Yeoba, Kwame, Demmer, Laurie, Hamajima, Naoki, Stark, Zornitza, Gillies, Greta, Hudgins, Louanne, Dave, Usha, Shalev, Stavit, Siu, Victoria, Gupta, Neerja, Kabra, Madhulika, Ades, Ann, Dubbs, Holly, Raible, Sarah, Kaur, Maninder, Salzano, Emanuela, Jackson, Laird, Deardorff, Matthew, Kline, Antonie, Summar, Marshall, Muenke, Maximilian, Linguraru, Marius George, Krantz, Ian D

المصدر: American Journal of Medical Genetics Part A. 179(2)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Brain Disorders, Rare Diseases, Clinical Research, Intellectual and Developmental Disabilities (IDD), Pediatric, Neurosciences, Congenital, Abnormalities, Multiple, Adolescent, Adult, Cell Cycle Proteins, Child, Child, Preschool, Chondroitin Sulfate Proteoglycans, Chromosomal Proteins, Non-Histone, De Lange Syndrome, Face, Female, Humans, Image Processing, Computer-Assisted, Infant, Infant, Newborn, Intellectual Disability, Male, Mutation, Phenotype, Racial Groups, Young Adult, CdLS, Cornelia de Lange syndrome, diverse populations, facial analysis technology, NIPBL, underrepresented minorities, Clinical Sciences, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6w35196fTest

المؤلفون: Kaur, Maninder, Blair, Justin, Devkota, Batsal, Fortunato, Sierra, Clark, Dinah, Lawrence, Audrey, Kim, Jiwoo, Do, Wonwook, Semeo, Benjamin, Katz, Olivia, Mehta, Devanshi, Yamamoto, Nobuko, Schindler, Emma, Al Rawi, Zayd, Wallace, Nina, Wilde, Jonathan J., McCallum, Jennifer, Liu, Jinglan, Xu, Dongbin, Jackson, Marie, Rentas, Stefan, Tayoun, Ahmad Abou, Zhe, Zhang, Abdul-Rahman, Omar, Allen, Bill, Angula, Moris A., Anyane-Yeboa, Kwame, Argente, Jesús, Arn, Pamela H., Armstrong, Linlea, Basel-Salmon, Lina, Baynam, Gareth, Bird, Lynne M., Bruegger, Daniel, Ch'ng, Gaik-Siew, Chitayat, David, Clark, Robin, Cox, Gerald F., Dave, Usha, DeBaere, Elfrede, Field, Michael, Graham Jr, John M., Gripp, Karen W., Greenstein, Robert, Gupta, Neerja, Heidenreich, Randy, Hoffman, Jodi, Hopkin, Robert J., Jones, Kenneth L., Jones, Marilyn C., Kariminejad, Ariana, Kogan, Jillene, Lace, Baiba, Leroy, Julian, Lynch, Sally Ann, McDonald, Marie, Meagher, Kirsten, Mendelsohn, Nancy, Micule, Ieva, Moeschler, John, Nampoothiri, Sheela, Ohashi, Kaoru, Powell, Cynthia M., Ramanathan, Subhadra, Raskin, Salmo, Roeder, Elizabeth, Rio, Marlene, Rope, Alan F., Sangha, Karan, Scheuerle, Angela E., Schneider, Adele, Shalev, Stavit, Siu, Victoria, Smith, Rosemarie, Stevens, Cathy, Tkemaladze, Tinatin, Toimie, John, Toriello, Helga, Turner, Anne, Wheeler, Patricia G., White, Susan M., Young, Terri, Loomes, Kathleen M., Pipan, Mary, Harrington, Ann Tokay, Zackai, Elaine, Rajagopalan, Ramakrishnan, Conlin, Laura, Deardorff, Matthew A., McEldrew, Deborah, Pie, Juan, Ramos, Feliciano, Musio, Antonio, Kline, Antonie D., Izumi, Kosuke, Raible, Sarah E., Krantz, Ian D.

وصف الملف: application/pdf

العلاقة: http://zaguan.unizar.es/record/127785Test

الإتاحة: https://doi.org/10.1002/ajmg.a.63247Test
http://zaguan.unizar.es/record/127785Test

المؤلفون: Niggl, Eva, Bouman, Arjan, Briere, Lauren C, Hoogenboezem, Remco M, Wallaard, Ilse, Park, Joohyun, Admard, Jakob, Wilke, Martina, Harris-Mostert, Emilio D R O, Elgersma, Minetta, Balasubramanian, Meena, Banka, Siddharth, Benke, Paul J, Bertrand, Miriam, Blesson, Alyssa E, Clayton-Smith, Jill, Ellingford, Jamie M, Gillentine, Madelyn A, Goodloe, Dana H, Haack, Tobias B, Jain, Mahim, Krantz, Ian, Luu, Sharon M, McPheron, Molly, Muss, Candace L, Raible, Sarah E, Robin, Nathaniel H, Sweetser, David A, Thiffault, Isabelle, Vetrini, Francesco, Witt, Dennis, Woods, Emily, Zhou, Dihong, Elgersma, Ype, van Esbroeck, Annelot C M

المصدر: Genomics England Research Consortium , Undiagnosed Diseases Network , Niggl , E , Bouman , A , Briere , L C , Hoogenboezem , R M , Wallaard , I , Park , J , Admard , J , Wilke , M , Harris-Mostert , E D R O , Elgersma , M , Balasubramanian , M , Banka , S , Benke , P J , Bertrand , M , Blesson , A E , Clayton-Smith , J , Ellingford , J M , Gillentine , M A , Goodloe , D H , Haack , T B ....

مصطلحات موضوعية: Humans, Intellectual Disability/genetics, Alternative Splicing/genetics, Heterogeneous-Nuclear Ribonucleoprotein Group C/genetics, Haploinsufficiency/genetics, Neurodevelopmental Disorders/genetics, Heterogeneous-Nuclear Ribonucleoproteins/genetics

العلاقة: https://research.manchester.ac.uk/en/publications/20dfa96c-7935-4341-8245-a4003ce04e04Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2023.07.005Test
https://research.manchester.ac.uk/en/publications/20dfa96c-7935-4341-8245-a4003ce04e04Test
http://www.scopus.com/inward/record.url?scp=85166598997&partnerID=8YFLogxKTest
https://www.mendeley.com/catalogue/b68f3a81-7e4e-3069-afa6-1e772c118567Test/

المؤلفون: Ansari, Morad, Faour, Kamli N. W., Shimamura, Akiko, Grimes, Graeme, Kao, Emeline M., Denhoff, Erica R., Blatnik, Ana, Ben-Isvy, Daniel, Wang, Lily, Helm, Benjamin M., Firth, Helen, Breman, Amy M., Bijlsma, Emilia K., Iwata-Otsubo, Aiko, de Ravel, Thomy J. L., Fusaro, Vincent, Fryer, Alan, Nykamp, Keith, Stühn, Lara G., Haack, Tobias B., Korenke, G. Christoph, Constantinou, Panayiotis, Bujakowska, Kinga M., Low, Karen J., Place, Emily, Humberson, Jennifer, Napier, Melanie P., Hoffman, Jessica, Juusola, Jane, Deardorff, Matthew A., Shao, Wanqing, Rockowitz, Shira, Krantz, Ian, Kaur, Maninder, Raible, Sarah, Kliesch, Sabine, Singer-Berk, Moriel, Groopman, Emily, DiTroia, Stephanie, Ballal, Sonia, Srivastava, Siddharth, Rothfelder, Kathrin, Biskup, Saskia, Rzasa, Jessica, Kerkhof, Jennifer, McConkey, Haley, O'Donnell-Luria, Anne, Sadikovic, Bekim, Hilton, Sarah, Banka, Siddharth, Tüttelmann, Frank, Conrad, Donald, Talkowski, Michael E., FitzPatrick, David R., Boone, Philip M.

المساهمون: Medical and Molecular Genetics, School of Medicine

المصدر: PMC

مصطلحات موضوعية: Cornelia de Lange syndrome (CdLS), Cohesin, Loss-of-function

وصف الملف: application/pdf

العلاقة: Ansari M, Faour KNW, Shimamura A, et al. Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features. Preprint. medRxiv. 2023;2023.09.27.23294269. Published 2023 Sep 28. doi:10.1101/2023.09.27.23294269; https://hdl.handle.net/1805/39578Test

الإتاحة: https://doi.org/10.1101/2023.09.27.23294269Test
https://hdl.handle.net/1805/39578Test

المؤلفون: Osko, Jeremy, Porter, Nicholas, Decroos, Christophe, Lee, Matthew, Watson, Paris, Raible, Sarah, Krantz, Ian, Deardorff, Matthew, Christianson, David

المساهمون: University of Pennsylvania Philadelphia, Children’s Hospital of Philadelphia (CHOP ), Department of Pediatrics (Perelman School of Medicine), Children’s Hospital Los Angeles Los Angeles, Keck School of Medicine Los Angeles, University of Southern California (USC)

المصدر: ISSN: 1047-8477.

مصطلحات موضوعية: X-ray crystallography, Zinc enzyme, Cohesin, Birth defect, [SDV.BBM.BS]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Structural Biology [q-bio.BM]

العلاقة: hal-03106173; https://hal.archives-ouvertes.fr/hal-03106173Test; https://hal.archives-ouvertes.fr/hal-03106173/documentTest; https://hal.archives-ouvertes.fr/hal-03106173/file/CdLS_HDAC8_FINAL.pdfTest

الإتاحة: https://doi.org/10.1016/j.jsb.2020.107681Test
https://hal.archives-ouvertes.fr/hal-03106173Test
https://hal.archives-ouvertes.fr/hal-03106173/documentTest
https://hal.archives-ouvertes.fr/hal-03106173/file/CdLS_HDAC8_FINAL.pdfTest

المؤلفون: Vissers, Lisenka E L M, Kalvakuri, Sreehari, de Boer, Elke, Geuer, Sinje, Oud, Machteld, van Outersterp, Inge, Kwint, Michael, Witmond, Melde, Kersten, Simone, Polla, Daniel L, Weijers, Dilys, Begtrup, Amber, McWalter, Kirsty, Ruiz, Anna, Gabau, Elisabeth, Morton, Jenny E V, Griffith, Christopher, Weiss, Karin, Gamble, Candace, Bartley, James, Vernon, Hilary J, Brunet, Kendra, Ruivenkamp, Claudia, Kant, Sarina G, Kruszka, Paul, Larson, Austin, Afenjar, Alexandra, Billette de Villemeur, Thierry, Nugent, Kimberly, DDD Study, Raymond, F Lucy, Venselaar, Hanka, Demurger, Florence, Soler-Alfonso, Claudia, Li, Dong, Bhoj, Elizabeth, Hayes, Ian, Hamilton, Nina Powell, Ahmad, Ayesha, Fisher, Rachel, van den Born, Myrthe, Willems, Marjolaine, Sorlin, Arthur, Delanne, Julian, Moutton, Sebastien, Christophe, Philippe, Mau-Them, Frederic Tran, Vitobello, Antonio, Goel, Himanshu, Massingham, Lauren, Phornphutkul, Chanika, Schwab, Jennifer, Keren, Boris, Charles, Perrine, Vreeburg, Maaike, De Simone, Lenika, Hoganson, George, Iascone, Maria, Milani, Donatella, Evenepoel, Lucie, Revencu, Nicole, Ward, D Isum, Burns, Kaitlyn, Krantz, Ian, Raible, Sarah E, Murrell, Jill R, Wood, Kathleen, Cho, Megan T, van Bokhoven, Hans, Muenke, Maximilian, Kleefstra, Tjitske, Bodmer, Rolf, de Brouwer, Arjan P M

المساهمون: UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL

المصدر: American journal of human genetics, Vol. 107, no.1, p. 164-172 (2020)

مصطلحات موضوعية: Alleles, Developmental Disabilities, Female, Gene Expression, Genetic Variation, Haploinsufficiency, Heterozygote, Humans, Male, Nervous System Malformations, Neurodevelopmental Disorders, Nuclear Receptor Subfamily 4, Group A, Member 2, Phenotype, Protein Stability, RNA, Receptors, CCR4, Transcription Factors, CCR4-NOT complex, CNOT1, Drosophila, de novo mutations, developmental delay, exome sequencing, genomics, intellectual disability, neurodevelopment

العلاقة: boreal:260411; http://hdl.handle.net/2078.1/260411Test; info:pmid/32553196; urn:ISSN:0002-9297; urn:EISSN:1537-6605

الإتاحة: https://doi.org/10.1016/j.ajhg.2020.05.017Test
http://hdl.handle.net/2078.1/260411Test

المؤلفون: Fountain, Michael D., Oleson, David S., Rech, Megan E., Segebrecht, Lara, Hunter, Jill V., McCarthy, John M., Lupo, Philip J., Holtgrewe, Manuel, Moran, Rocio, Rosenfeld, Jill A., Isidor, Bertrand, le Caignec, C. dric, Saenz, Margarita S., Pedersen, Robert C., Morgan, Thomas M., Pfotenhauer, Jean P., Xia, Fan, Bi, Weimin, Kang, Sung-Hae L., Patel, Ankita, Krantz, Ian D., Raible, Sarah E., Smith, Wendy, Cristian, Ingrid, Torti, Erin, Juusola, Jane, Millan, Francisca, Wentzensen, Ingrid M., Person, Richard E., Küry, S. bastien, Bézieau, Stéphane, Uguen, K. vin, Férec, Claude, Munnich, Arnold, van Haelst, Mieke, Lichtenbelt, Klaske D., van Gassen, Koen, Hagelstrom, Tanner, Chawla, Aditi, Perry, Denise L., Taft, Ryan J., Jones, Marilyn, Masser-Frye, Diane, Dyment, David, Venkateswaran, Sunita, Li, Chumei, Escobar, Luis F., Horn, Denise, Spillmann, Rebecca C., Peña, Loren, Wierzba, Jolanta, Strom, Tim M., Parenti, Ilaria, Kaiser, Frank J., Ehmke, Nadja, Schaaf, Christian P.

المصدر: Fountain , M D , Oleson , D S , Rech , M E , Segebrecht , L , Hunter , J V , McCarthy , J M , Lupo , P J , Holtgrewe , M , Moran , R , Rosenfeld , J A , Isidor , B , le Caignec , C D , Saenz , M S , Pedersen , R C , Morgan , T M , Pfotenhauer , J P , Xia , F , Bi , W , Kang , S-H L , Patel , A , Krantz , I D , ....

العلاقة: https://research.vumc.nl/en/publications/c4760739-e720-4b20-8dd1-80b90cf6cf68Test

الإتاحة: https://doi.org/10.1038/s41436-019-0433-1Test
https://research.vumc.nl/en/publications/c4760739-e720-4b20-8dd1-80b90cf6cf68Test
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85060682012&origin=inwardTest
https://www.ncbi.nlm.nih.gov/pubmed/30679821Test