Zobrazeno 1 - 10
of 13
pro vyhledávání: '"M J Hajianpour"'
Autor:
Carolina Gracia-Diaz, Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla, Chul-Hwan Lee, Shuo Zhang, Natàlia Padilla, Raquel Fueyo, Elisa A. Waxman, Sunyimeng Lei, Garrett Otrimski, Dong Li, Sarah E. Sheppard, Paul Mark, Margaret H. Harr, Hakon Hakonarson, Lance Rodan, Adam Jackson, Pradeep Vasudevan, Corrina Powel, Shehla Mohammed, Sateesh Maddirevula, Hamad Alzaidan, Eissa A. Faqeih, Stephanie Efthymiou, Valentina Turchetti, Fatima Rahman, Shazia Maqbool, Vincenzo Salpietro, Shahnaz H. Ibrahim, Gabriella di Rosa, Henry Houlden, Maha Nasser Alharbi, Nouriya Abbas Al-Sannaa, Peter Bauer, Giovanni Zifarelli, Conchi Estaras, Anna C. E. Hurst, Michelle L. Thompson, Anna Chassevent, Constance L. Smith-Hicks, Xavier de la Cruz, Alexander M. Holtz, Houda Zghal Elloumi, M J Hajianpour, Claudine Rieubland, Dominique Braun, Siddharth Banka, Genomic England Research Consortium, Deborah L. French, Elizabeth A. Heller, Murielle Saade, Hongjun Song, Guo-li Ming, Fowzan S. Alkuraya, Pankaj B. Agrawal, Danny Reinberg, Elizabeth J. Bhoj, Marian A. Martínez-Balbás, Naiara Akizu
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-18 (2023)
Abstract Genetic variants in chromatin regulators are frequently found in neurodevelopmental disorders, but their effect in disease etiology is rarely determined. Here, we uncover and functionally define pathogenic variants in the chromatin modifier
Externí odkaz:
https://doaj.org/article/78105606e072432f9749da08dbbd20b7
Autor:
Katharina Steindl, Alain Verloes, Cornelia Kraus, Rachel Fisher, Katrin Õunap, Amber Begtrup, Steffen Syrbe, Theresa Brunet, Antonio Vitobello, Laurence Faivre, Reza Asadollahi, Jessica Becker, Maja Hempel, Dave A Dyment, Christiane Zweier, John H McDermott, Bernt Popp, Elaine Suk-Ying Goh, Lynette G. Sadleir, Anaïs Begemann, Siddharth Banka, Gwenaël Le Guyader, Elisabeth Schuler, Anne-Sophie Denommé-Pichon, Kathleen Brown, Gaetan Lesca, Frédéric Tran Mau-Them, Lucia Ribeiro Machado Haertel, Maryline Carneiro, Amelie Theresa Van der Ven, Markus Zweier, Hartmut Engels, Heinrich Sticht, Theresia Herget, Jessika Johannsen, Bader Alhaddad, Nadine N. Hauer, Robert C. Day, Tiia Reimand, M. J. Hajianpour, Manuel Schiff, Kirsty McWalter, Margarita Saenz, Tatjana Bierhals, Pierre Meyer, Ange-Line Bruel, Martina Russo, Korbinian M. Riedhammer, Kirsten Cremer, Anita Rauch, Marjolaine Willems
Publikováno v:
Begemann, A, Sticht, H, Begtrup, A, Vitobello, A, Faivre, L, Banka, S, Alhaddad, B, Asadollahi, R, Becker, J, Bierhals, T, Brown, KE, Bruel, AL, Brunet, T & Rauch, A 2020, ' New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics. ', Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1038/s41436-020-01011-x
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, In press, pp.543-554. ⟨10.1038/s41436-020-01011-x⟩
Genetics in Medicine, 23
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, In press, pp.543-554. ⟨10.1038/s41436-020-01011-x⟩
Genetics in Medicine, 23
International audience; Purpose: A few de novo missense variants in the cytoplasmic FMRP-interacting protein 2 (CYFIP2) gene have recently been described as a novel cause of severe intellectual disability, seizures, and hypotonia in 18 individuals, w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29708452a474550beae4525de9ef236e
https://doi.org/10.1038/s41436-020-01011-x
https://doi.org/10.1038/s41436-020-01011-x
Autor:
Lisa Ohden, Jenny Morton, M. J. Hajianpour, Geoffrey Beek, Rebecca C. Spillmann, Donald Basel, Christine Shieh, Joel P. Mackay, Richard S. Finkel, Stanley F. Nelson, Andrew Choi, Shane McKee, Thomas D. Challman, Karen E. Wain, Loren D M Pena, Rosemarie Smith, David R. FitzPatrick, Natasha Jones, John M. Graham, Brigitte Vanle, Samantha A. Vergano, Kay Metcalfe, Julian A. Martinez, Ana Berta Sousa, Luis O Rohena, Usha Kini, Alden Y. Huang, Andrew Dauber, Maria Gabriela Otero, Karen W. Gripp, Mauricio R. Delgado, Roman Yusupov, Judith D. Ranells, Miranda Splitt, David Chitayat, Mary-Louise Freckmann, Juan I. Young, Emilie D. Douine, Eric D. Marsh, Helen Cox, Sunita Venkateswaran, Jane A. Hurst, Ingrid P. Taff, Margaret G. Au, Katheryn Grand, Laura Davis-Keppen, Hilary J. Vernon, Andrea H. Seeley, Tyler Mark Pierson, Hane Lee, Ana P. G. Silva, Katherine Lachlan, Sakkubai Naidu, Sonal Mahida, James J. Dowling
Publikováno v:
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Genet Med
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Genet Med
Copyright © 2020, American College of Medical Genetics and Genomics
Purpose: Determination of genotypic/phenotypic features of GATAD2B-associated neurodevelopmental disorder (GAND). Methods: Fifty GAND subjects were evaluated to determine consi
Purpose: Determination of genotypic/phenotypic features of GATAD2B-associated neurodevelopmental disorder (GAND). Methods: Fifty GAND subjects were evaluated to determine consi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7ff8e5070bc30442280c26cec65f877
Autor:
Kathryn J Klopfenstein, Koymangalath Krishnan, M J Hajianpour, William L. Stone, Cathleen M Cook, Marcela I Popescu
Publikováno v:
Frontiers in bioscience (Landmark edition). 22(7)
Despite major advances in treatment, pediatric cancers in the 5-16 age group remain the most common cause of disease death, and one out of eight children with cancer will not survive. Among children that do survive, some 60% suffer from late effects
Autor:
M J, Hajianpour, Hannah, Bombei, Scott M, Lieberman, Rachael, Revell, Rachana, Krishna, Robert, Gregorsok, Simon, Kao, Jeff M, Milunsky
Publikováno v:
Journal of the American Dental Association (1939). 148(3)
Lacrimo-auriculo-dento-digital (LADD) syndrome is an autosomal dominant disorder with variable lacrimal and salivary gland hypoplasia and aplasia, auricular anomalies and hearing loss, dental defects and caries, and digital anomalies.The authors pres
Autor:
M. J. Hajianpour, Lynne S. Rosenblum-Vos, Evelyn M. Karson, Dru E. Carlson, Nathan Fischel-Ghodsian, Dmitriy A. Shchepin, Rena E. Falk, Elizabeth Roeder, Carolyn Trunca, Sucheta Bhatt, Charles H. Hux, Rhona Schreck, Wei Tong Hsu, Elizabeth A. Leeth, Rong Mao, Elizabeth Berry-Kravis, Sandra K. Linn, Jin Chen C Wang, Martin G. Bialer, Ann Garber
Publikováno v:
American Journal of Medical Genetics. 80:473-480
Trisomy 16, once thought to result uniformly in early pregnancy loss, has been detected in chorionic villus samples (CVS) from on-going pregnancies and was initially ascribed to a second, nonviable pregnancy. Prenatally detected trisomy 16 in CVS and
Molecular cytogenetic characterization of 18;21 whole arm translocation associated with monosomy 18p
Publikováno v:
American Journal of Medical Genetics. 71:463-466
Monosomy of the entire short arm of chromosome 18 as a result of an 18;acrocentric whole arm translocation has been reported in over 20 patients, 3 of which were familial. The centromeric origin in de novo cases has not been characterized. We report
Publikováno v:
American Journal of Medical Genetics. 63:335-339
We report on a 30-year-old woman with de novo ring chromosome 12 mosaicism, 46,XX,r(12)(p13.3q24.3)/46,XX. In addition to the clinical manifestations generally observed in {open_quotes}ring syndrome{close_quotes} cases such as growth retardation, sho
Autor:
W T, Hsu, D A, Shchepin, R, Mao, E, Berry-Kravis, A P, Garber, N, Fischel-Ghodsian, R E, Falk, D E, Carlson, E R, Roeder, E A, Leeth, M J, Hajianpour, J C, Wang, L S, Rosenblum-Vos, S D, Bhatt, E M, Karson, C H, Hux, C, Trunca, M G, Bialer, S K, Linn, R R, Schreck
Publikováno v:
American journal of medical genetics. 80(5)
Trisomy 16, once thought to result uniformly in early pregnancy loss, has been detected in chorionic villus samples (CVS) from on-going pregnancies and was initially ascribed to a second, nonviable pregnancy. Prenatally detected trisomy 16 in CVS and
Molecular cytogenetic characterization of 18;21 whole arm translocation associated with monosomy 18p
Publikováno v:
American journal of medical genetics. 71(4)
Monosomy of the entire short arm of chromosome 18 as a result of an 18;acrocentric whole arm translocation has been reported in over 20 patients, 3 of which were familial. The centromeric origin in de novo cases has not been characterized. We report