المؤلفون: Niyazov, Dmitriy, Juusola, Jane

المصدر: Genetics in Medicine Open ; volume 2, page 101141 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2024.101141Test
https://api.elsevier.com/content/article/PII:S2949774424002875?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424002875?httpAccept=text/plainTest

المؤلفون: Le Duc, Diana, Giulivi, Cecilia, Hiatt, Susan M, Napoli, Eleonora, Panoutsopoulos, Alexios, De Crescenzo, Angelo Harlan, Kotzaeridou, Urania, Syrbe, Steffen, Anagnostou, Evdokia, Azage, Meron, Bend, Renee, Begtrup, Amber, Brown, Natasha J, Buttner, Benjamin, Cho, Megan T, Cooper, Gregory M, Doering, Jan H, Dubourg, Christele, Everman, David B, Hildebrand, Michael S, Santos, Francis Jeshira Reynoso, Kellam, Barbara, Keller-Ramey, Jennifer, Lemke, Johannes R, Liu, Shuxi, Niyazov, Dmitriy, Payne, Katelyn, Person, Richard, Quelin, Chloe, Schnur, Rhonda E, Smith, Brooke T, Strober, Jonathan, Walker, Susan, Wallis, Mathew, Walsh, Laurence, Yang, Sandra, Yuen, Ryan KC, Ziegler, Andreas, Sticht, Heinrich, Pride, Michael C, Orosco, Lori, Martinez-Cerdeno, Veronica, Silverman, Jill L, Crawley, Jacqueline N, Scherer, Stephen W, Zarbalis, Konstantinos S, Jamra, Rami

مصطلحات موضوعية: Neurology & Neurosurgery, Medical and Health Sciences, Psychology and Cognitive Sciences

الوصول الحر: https://escholarship.org/uc/item/8cc843htTest

المؤلفون: Le Duc, Diana, Giulivi, Cecilia, Hiatt, Susan M, Napoli, Eleonora, Panoutsopoulos, Alexios, De Crescenzo, Angelo Harlan, Kotzaeridou, Urania, Syrbe, Steffen, Anagnostou, Evdokia, Azage, Meron, Bend, Renee, Begtrup, Amber, Brown, Natasha J, Büttner, Benjamin, Cho, Megan T, Cooper, Gregory M, Doering, Jan H, Dubourg, Christèle, Everman, David B, Hildebrand, Michael S, Santos, Francis Jeshira Reynoso, Kellam, Barbara, Keller-Ramey, Jennifer, Lemke, Johannes R, Liu, Shuxi, Niyazov, Dmitriy, Payne, Katelyn, Person, Richard, Quélin, Chloé, Schnur, Rhonda E, Smith, Brooke T, Strober, Jonathan, Walker, Susan, Wallis, Mathew, Walsh, Laurence, Yang, Sandra, Yuen, Ryan KC, Ziegler, Andreas, Sticht, Heinrich, Pride, Michael C, Orosco, Lori, Martínez-Cerdeño, Verónica, Silverman, Jill L, Crawley, Jacqueline N, Scherer, Stephen W, Zarbalis, Konstantinos S, Jamra, Rami

المصدر: Brain. 142(9)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Health Sciences, Psychology, Stem Cell Research, Neurosciences, Mental Health, Biotechnology, Brain Disorders, Genetics, Intellectual and Developmental Disabilities (IDD), Clinical Research, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Neurological, Mental health, Adaptor Proteins, Signal Transducing, Adolescent, Animals, Autophagy-Related Proteins, Brain, Child, Child, Preschool, Female, Genetic Variation, Humans, Male, Mice, Mice, Transgenic, Neurodevelopmental Disorders, Organ Size, Protein Structure, Secondary, WDFY3, brain size, neurodevelopmental delay, intellectual disability, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/8pr0p6tkTest

المؤلفون: Cali, Elisa, Suri, Mohnish, Scala, Marcello, Ferla, Matteo P, Alavi, Shadryar, Ali Faqeih, Eissa, Bijlsma, Emilia K, Wigby, Kristen M, Baralle, Diana, Mehrjardi, Mohammad Yahya Vahidi, Schwab, Jennifer, Platzer, Konrad, Steindl, Katharina, Hashem, Mais, Jones, Marilyn, Niyazov, Dmitriy M, Jacober, Jennifer, Littlejohn, Rebecca O., Weis, Denisa, Zadeh, Neda, Rodan, Lance, Goldenberg, Alice, Lecoquierre, Francois, Dutra-Clarke, Marina, Horvarth, Gabriella, Young, Dana, Orenstein, Naama, Bawazeer, Shahad, Vulto-van Silfhout, A.T., Herenger, Yvan, Dehghanian, M., Seyedhassani, Seyed Mohammad, Bahreini, Amir, Nasab, Mahya Ebrahimi, Ercan-Sencicek, A Gulhan, Firoozfar, Zahra, Movahedinia, Mojtaba, Efthymiou, Stephanie, Striano, Pasquale, Karimiani, Ehsan Ghayoor, Salpietro, Vincenzo, Taylor, Jenny C., Redman, Melody, Stegmann, Alexander P.A., Laner, Andrea, Abdel-Salam, Ghada, Li, Megan, Bengala, Mario, Muller, Amelie Johanna, Digilio, Maria Cristina, Rauch, Anita, Gunel, Murat, Titheradge, Hannah, Schweitzer, Daniela N, Kraus, Alison, Valenzuela, Irene, Mclean, Scott D, Phornphutkul, Chanika, Salih, Mustafa, Begtrup, Amber, Schnur, Rhonda E, Torti, Erin, Haack, Tobias B, Prada, Carlos E, Alkuraya, Fowzan S, Houlden, Henry, Maroofian, Reza

وصف الملف: text

العلاقة: https://eprints.soton.ac.uk/472172/1/Manuscript_revised_cleanversion.docxTest; https://eprints.soton.ac.uk/472172/2/PIIS1098360022009546.pdfTest; Cali, Elisa, Suri, Mohnish, Scala, Marcello, Ferla, Matteo P, Alavi, Shadryar, Ali Faqeih, Eissa, Bijlsma, Emilia K, Wigby, Kristen M, Baralle, Diana, Mehrjardi, Mohammad Yahya Vahidi, Schwab, Jennifer, Platzer, Konrad, Steindl, Katharina, Hashem, Mais, Jones, Marilyn, Niyazov, Dmitriy M, Jacober, Jennifer, Littlejohn, Rebecca O., Weis, Denisa, Zadeh, Neda, Rodan, Lance, Goldenberg, Alice, Lecoquierre, Francois, Dutra-Clarke, Marina, Horvarth, Gabriella, Young, Dana, Orenstein, Naama, Bawazeer, Shahad, Vulto-van Silfhout, A.T., Herenger, Yvan, Dehghanian, M., Seyedhassani, Seyed Mohammad, Bahreini, Amir, Nasab, Mahya Ebrahimi, Ercan-Sencicek, A Gulhan, Firoozfar, Zahra, Movahedinia, Mojtaba, Efthymiou, Stephanie, Striano, Pasquale, Karimiani, Ehsan Ghayoor, Salpietro, Vincenzo, Taylor, Jenny C., Redman, Melody, Stegmann, Alexander P.A., Laner, Andrea, Abdel-Salam, Ghada, Li, Megan, Bengala, Mario, Muller, Amelie Johanna, Digilio, Maria Cristina, Rauch, Anita, Gunel, Murat, Titheradge, Hannah, Schweitzer, Daniela N, Kraus, Alison, Valenzuela, Irene, Mclean, Scott D, Phornphutkul, Chanika, Salih, Mustafa, Begtrup, Amber, Schnur, Rhonda E, Torti, Erin, Haack, Tobias B, Prada, Carlos E, Alkuraya, Fowzan S, Houlden, Henry and Maroofian, Reza (2023) Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities. Genetics in Medicine, 25 (1), 135-142. (doi:10.1016/j.gim.2022.09.016 ).

الإتاحة: https://doi.org/10.1016/j.gim.2022.09.016Test
https://eprints.soton.ac.uk/472172Test/
https://eprints.soton.ac.uk/472172/1/Manuscript_revised_cleanversion.docxTest
https://eprints.soton.ac.uk/472172/2/PIIS1098360022009546.pdfTest

المؤلفون: Cali, Elisa, Suri, Mohnish, Scala, Marcello, Ferla, Matteo P, Alavi, Shahryar, Faqeih, Eissa Ali, Bijlsma, Emilia K, Wigby, Kristen M, Baralle, Diana, Mehrjardi, Mohammad YV, Schwab, Jennifer, Platzer, Konrad, Steindl, Katharina, Hashem, Mais, Jones, Marilyn, Niyazov, Dmitriy M, Jacober, Jennifer, Littlejohn, Rebecca Okashah, Weis, Denisa, Zadeh, Neda, Rodan, Lance, Goldenberg, Alice, Lecoquierre, François, Dutra-Clarke, Marina, Horvath, Gabriella, Young, Dana, Orenstein, Naama, Bawazeer, Shahad, Vulto-van Silfhout, Anneke T, Herenger, Yvan, Dehghani, Mohammadreza, Seyedhassani, Seyed Mohammad, Bahreini, Amir, Nasab, Mahya E, Ercan-Sencicek, A Gulhan, Firoozfar, Zahra, Movahedinia, Mojtaba, Efthymiou, Stephanie, Striano, Pasquale, Karimiani, Ehsan Ghayoor, Salpietro, Vincenzo, Taylor, Jenny C, Redman, Melody, Stegmann, Alexander PA, Laner, Andreas, Abdel-Salam, Ghada, Li, Megan, Bengala, Mario, Müller, Amelie Johanna, Digilio, Maria C, Rauch, Anita, Gunel, Murat, Titheradge, Hannah, Schweitzer, Daniela N, Kraus, Alison, Valenzuela, Irene, McLean, Scott D, Phornphutkul, Chanika, Salih, Mustafa, Begtrup, Amber, Schnur, Rhonda E, Torti, Erin, Haack, Tobias B, Prada, Carlos E, Alkuraya, Fowzan S, Houlden, Henry, Maroofian, Reza

المصدر: Genetics in Medicine (2022) (In press).

مصطلحات موضوعية: Chromatinopathy, Mendelian disorders of the epigenetic machinery, PRMT7, Syndromic neurodevelopmental disorder, Syndromic obesity

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10160152/1/Maroofian_Biallelic%20PRMT7%20pathogenic%20variants%20are%20associated%20with%20a%20recognizable%20syndromic%20neurodevelopmental%20disorder%20with%20short%20stature,%20obesity,%20and%20craniofacial%20and%20digital%20abnormalitie_AOP.pdf.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10160152Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10160152/1/Maroofian_Biallelic%20PRMT7%20pathogenic%20variants%20are%20associated%20with%20a%20recognizable%20syndromic%20neurodevelopmental%20disorder%20with%20short%20stature,%20obesity,%20and%20craniofacial%20and%20digital%20abnormalitie_AOP.pdf.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10160152Test/

المؤلفون: Coulie, Richard, Niyazov, Dmitriy M, Gambello, Michael J, Fastré, Elodie, Brouillard, Pascal, Vikkula, Miikka

المساهمون: UCL - SSS/DDUV/GEHU - Génétique

المصدر: American journal of medical genetics. Part A, Vol. 185, no. 7, p. 2153-2159 (2021)

مصطلحات موضوعية: HLTRS, HLTS, genetic, lymphangiogenesis, phenotype, transcription factor

العلاقة: boreal:248085; http://hdl.handle.net/2078.1/248085Test; info:pmid/33851505; urn:EISSN:1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.62205Test
http://hdl.handle.net/2078.1/248085Test

المؤلفون: Polla, Daniel, L, Edmondson, Andrew, C, Duvet, Sandrine, March, Michael, E, Sousa, Ana Berta, Lehman, Anna, Niyazov, Dmitriy, van Dijk, Fleur, Demirdas, Serwet, van Slegtenhorst, Marjon, A, Kievit, Anneke J.A., Schulz, Celine, Armstrong, Linlea, Bi, Xin, Rader, Daniel, J, Izumi, Kosuke, Zackai, Elaine, H, de Franco, Elisa, Jorge, Paula, Huffels, Sophie, C, Hommersom, Marina, Ellard, Sian, Lefeber, Dirk, J, Santani, Avni, Hand, Nicholas, J, van Bokhoven, Hans, He, Miao, de Brouwer, Arjan P.M.

المساهمون: Unité de Glycobiologie Structurale et Fonctionnelle - UMR 8576 (UGSF), Université de Lille-Centre National de la Recherche Scientifique (CNRS)

المصدر: ISSN: 0002-9297.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

العلاقة: hal-04470876; https://hal.science/hal-04470876Test; https://hal.science/hal-04470876/documentTest; https://hal.science/hal-04470876/file/Polla_DL_AJHG_2021.pdfTest

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.05.010Test
https://hal.science/hal-04470876Test
https://hal.science/hal-04470876/documentTest
https://hal.science/hal-04470876/file/Polla_DL_AJHG_2021.pdfTest

المؤلفون: Lahrouchi, Najim, Postma, Alex V., Salazar, Christian M., Laughter, Daniel M. De, Tjong, Fleur, Piherova, Lenka, Bowling, Forrest Z., Zimmerman, Dominic, Lodder, Elisabeth M., Ta-Shma, Asaf, Perles, Zeev, Beekman, Leander, Ilgun, Aho, Gunst, Quinn, Hababa, Mariam, Skoric-Milosavljevic, Doris, Stranecky, Viktor, Tomek, Viktor, Knijff, Peter de, Leeuw, Rick de, Robinson, Jamille Y., Burn, Sabrina C., Mustafa, Hiba, Ambrose, Matthew, Moss, Timothy, Jacober, Jennifer, Niyazov, Dmitriy M., Wolf, Barry, Kim, Katherine H., Cherny, Sara, Rousounides, Andreas, Aristidou-Kallika, Aphrodite, Tanteles, George, Ange-Line, Bruel, Denomme-Pichon, Anne-Sophie, Francannet, Christine, Ortiz, Damara, Haak, Monique C., Harkel, Arend D. J. Ten, Manten, Gwendolyn T. R., Dutman, Annemiek C., Bouman, Katelijne, Magliozzi, Monia, Radio, Francesca Clementina, Santen, Gijs W. E., Herkert, Johanna C., Brown, H. Alex, Elpeleg, Orly, Hoff, Maurice J. B. van den, Mulder, Barbara

المصدر: Lahrouchi , N , Postma , A V , Salazar , C M , Laughter , D M D , Tjong , F , Piherova , L , Bowling , F Z , Zimmerman , D , Lodder , E M , Ta-Shma , A , Perles , Z , Beekman , L , Ilgun , A , Gunst , Q , Hababa , M , Skoric-Milosavljevic , D , Stranecky , V , Tomek , V , Knijff , P D , Leeuw , R D , Robinson , J Y , Burn , S C , Mustafa ....

مصطلحات موضوعية: GROWTH-FACTOR-BETA, PHOSPHOLIPASE-D DEFINES, HEART-DISEASE, CRYSTAL-STRUCTURE, FACTOR-ALPHA, D1, MUTATIONS, INDUCTION, DESIGN, TRANSFORMATION

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/53049ee0-e2ec-4c81-9812-a3083d829f39Test

الإتاحة: https://doi.org/10.1172/JCI142148Test
https://hdl.handle.net/11370/53049ee0-e2ec-4c81-9812-a3083d829f39Test
https://research.rug.nl/en/publications/53049ee0-e2ec-4c81-9812-a3083d829f39Test
https://pure.rug.nl/ws/files/179809508/Biallelic_loss_of_function_variants_in_PLD1_cause_congenital_right_sided_cardiac_valve_defects.pdfTest

المؤلفون: Gistelinck, Charlotte, Weis, MaryAnn, Rai, Jyoti, Schwarze, Ulrike, Niyazov, Dmitriy, Song, Kit M, Byers, Peter H, Eyre, David R

المساهمون: Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institute of Arthritis and Musculoskeletal and Skin Diseases

المصدر: JBMR Plus ; volume 5, issue 3 ; ISSN 2473-4039 2473-4039

مصطلحات موضوعية: Orthopedics and Sports Medicine, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1002/jbm4.10454Test

المؤلفون: Latypova, Xenia, Vincent, Marie, Mollé, Alice, Adebambo, Oluwadamilare A., Fourgeux, Cynthia, Khan, Tahir N., Caro, Alfonso, Rosello, Monica, Orellana, Carmen, Niyazov, Dmitriy, Lederer, Damien, Deprez, Marie, Capri, Yline, Kannu, Peter, Tabet, Anne Claude, Levy, Jonathan, Aten, Emmelien, den Hollander, Nicolette, Splitt, Miranda, Walia, Jagdeep, Immken, Ladonna L., Stankiewicz, Pawel, McWalter, Kirsty, Suchy, Sharon, Louie, Raymond J., Bell, Shannon, Stevenson, Roger E., Rousseau, Justine, Willem, Catherine, Retiere, Christelle, Yang, Xiang-Jiao, Campeau, Philippe M., Martinez, Francisco, Rosenfeld, Jill A., Le Caignec, Cédric, Küry, Sébastien, Mercier, Sandra, Moradkhani, Kamran, Conrad, Solène, Besnard, Thomas, Cogné, Benjamin, Katsanis, Nicholas, Bézieau, Stéphane, Poschmann, Jeremie, Davis, Erica E., Isidor, Bertrand

المساهمون: National Institutes of Health

المصدر: The American Journal of Human Genetics ; volume 108, issue 5, page 929-941 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.03.017Test
https://api.elsevier.com/content/article/PII:S0002929721001014?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929721001014?httpAccept=text/plainTest