Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Chad R. Haldeman-Englert"'
Autor:
John M. Graham, Joseph T. Shieh, Alan F. Rope, Philip F Giampietro, Lynne M. Bird, Roberta A Pagon, John C. Carey, Katta M. Girisha, Cathy A. Stevens, David D. Weaver, Margaret P. Adam, William B. Dobyns, Bryan D. Hall, Elaine H. Zackai, Chad R. Haldeman-Englert, Anne C. Tsai, A. Micheil Innes, Marc S. Williams, Ian A. Glass, David A. Stevenson, Kenjiro Kosaki, Beth A. Kozel, Jennifer M. Kalish, Michael J. Bamshad, John J. Mulvihill, Robin D. Clark, Anne Slavotinek, Kim M. Keppler-Noreuil, Anita E. Beck, Małgorzata J.M. Nowaczyk, Cynthia J. Curry, Fowzan S. Alkuraya, Ghayda M. Mirzaa, Timothy C. Cox, Anne Amemiya, Karen W. Gripp, Wen-Hann Tan, Andrew K. Sobering, Yuri A. Zarate, Mary Beth Dinulos, Laurie H. Seaver, James T. Bennett, Leslie G. Biesecker, Kyle Retterer, Tiong Yang Tan, Brian H.Y. Chung, Pedro A. Sanchez-Lara
Publikováno v:
Am J Hum Genet
Autor:
Steven D Klein, Jeffrey W. Innis, Ying Yang, Sureni V. Mullegama, Toshihiko Ezashi, Sarah H. Elsea, Stephen R. Williams, Yuchen Tian, Chad R. Haldeman-Englert, Frank J. Probst, Julian A. Martinez-Agosto
Publikováno v:
Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
MBD5-associated neurodevelopmental disorder (MAND) is an autism spectrum disorder (ASD) characterized by intellectual disability, motor delay, speech impairment and behavioral problems; however, the biological role of methyl-CpG-binding domain 5, MBD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50c22afac552a57a9d37ec14eb48c44e
https://resolver.caltech.edu/CaltechAUTHORS:20210528-094921843
https://resolver.caltech.edu/CaltechAUTHORS:20210528-094921843
Autor:
Edgard Verdura, Alex MacKenzie, Rolph Pfundt, Tobias B. Haack, Ange Line Bruel, Paulino Gómez-Puertas, Anna C.E. Hurst, Bert B.A. de Vries, Stella A. de Man, Maria Johansson Soller, Bregje W.M. van Bon, Elisabeth Sarrazin, Agustí Rodríguez-Palmero, Stephan Waldmüller, Melanie O’Leary, Anne Sophie Denommé-Pichon, Bitten Schönewolf-Greulich, Joseph T. Shieh, V. A. Bjerregaard, Vahid Bahrambeigi, Malin Kvarnung, Agatha Schlüter, Anne Marie Bisgaard, Ingrid M.B.H. van de Laar, Elisa Giorgio, Lars Feuk, Mieke M. van Haelst, Thomas D. Challman, Ineke van de Burgt, Sulagna Kushary, Simone F. Reiter, David B. Everman, Zeynep Tümer, Giorgia Mandrile, Conny M. A. van Ravenswaaij-Arts, Charles Shaw-Smith, Juliane Hoyer, Chad R. Haldeman-Englert, Lotte Kleinendorst, Bryce A. Mendelsohn, Anna Lindstrand, Christine Coubes, Gea Beunders, Sixto García-Miñaur, Antonio Vitobello, Melissa Maria Boerrigter, Alysia Kern Lovgren, Anya Revah-Politi, Carlos E. Prada, Bertrand Isidor, Elena Repnikova, Stephanie Spranger, Esmée van Drie, Frédéric Tran Mau-Them, Zohra Shad, Ben Pode-Shakked, Aurora Pujol, Christiane Zweier, Bjørn Ivar Haukanes, David Gómez-Andrés, Kathleen A. Leppig, Marta Pacio-Míguez, Motti Shohat, Yuval Landau, Benjamin Cogné, Frances Elmslie, Kimberly A. Aldinger, Anita Rauch, Juliann M. Savatt, Nicolas Gruchy, Sharon Whiting, William B. Dobyns, Thomas J. Dye, Sebastien Moutton, Heidi Thiese, Setareh Moghadasi, Iñigo Marcos-Alcalde, Jenny Morton, Sumit Parikh, María Palomares-Bralo, Stéphanie Arpin, Tracy S. Gertler, Meredith J. Ross, Bernt Popp, Amelie J. Müller, Claudia A. L. Ruivenkamp
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2021, ⟨10.1038/s41436-020-01075-9⟩
Rodríguez-Palmero, A, Boerrigter, M M, Gómez-Andrés, D, Aldinger, K A, Marcos-Alcalde, Í, Popp, B, Everman, D B, Lovgren, A K, Arpin, S, Bahrambeigi, V, Beunders, G, Bisgaard, A M, Bjerregaard, V A, Bruel, A L, Challman, T D, Cogné, B, Coubes, C, de Man, S A, Denommé-Pichon, A S, Dye, T J, Elmslie, F, Feuk, L, García-Miñaúr, S, Gertler, T, Giorgio, E, Gruchy, N, Haack, T B, Haldeman-Englert, C R, Haukanes, B I, Hoyer, J, Hurst, A C E, Isidor, B, Soller, M J, Kushary, S, Kvarnung, M, Landau, Y E, Leppig, K A, Lindstrand, A, Kleinendorst, L, MacKenzie, A, Mandrile, G, Mendelsohn, B A, Moghadasi, S, Morton, J E, Moutton, S, Müller, A J, O’Leary, M, Pacio-Míguez, M, Palomares-Bralo, M, Parikh, S, Pfundt, R, Pode-Shakked, B, Rauch, A, Repnikova, E, Revah-Politi, A, Ross, M J, Ruivenkamp, C A L, Sarrazin, E, Savatt, J M, Schlüter, A, Schönewolf-Greulich, B, Shad, Z, Shaw-Smith, C, Shieh, J T, Shohat, M, Spranger, S, Thiese, H, Mau-Them, F T, van Bon, B, van de Burgt, I, van de Laar, I M B H, van Drie, E, van Haelst, M M, van Ravenswaaij-Arts, C M, Verdura, E, Vitobello, A, Waldmüller, S, Whiting, S, Zweier, C, Prada, C E, de Vries, B B A, Dobyns, W B, Reiter, S F, Gómez-Puertas, P, Pujol, A & Tümer, Z 2021, ' DLG4-related synaptopathy : a new rare brain disorder ', Genetics in Medicine, vol. 23, no. 5, pp. 888-899 . https://doi.org/10.1038/s41436-020-01075-9
Genetics in Medicine, 23(5), 888-899. Lippincott Williams & Wilkins
Genetics in medicine, 23(5), 888-899. Lippincott Williams and Wilkins
Genetics in Medicine, 23, 5, pp. 888-899
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Genetics in Medicine. Nature Publishing Group
Genetics in Medicine, 23(5), 888-899. SPRINGERNATURE
Genetics in Medicine, 23, 888-899
DDFV. Repositorio Institucional de la Universidad Francisco de Vitoria
Genetics in Medicine, 23(5), 888-899. Lippincott Williams and Wilkins
Genetics in Medicine, Nature Publishing Group, 2021, ⟨10.1038/s41436-020-01075-9⟩
Rodríguez-Palmero, A, Boerrigter, M M, Gómez-Andrés, D, Aldinger, K A, Marcos-Alcalde, Í, Popp, B, Everman, D B, Lovgren, A K, Arpin, S, Bahrambeigi, V, Beunders, G, Bisgaard, A M, Bjerregaard, V A, Bruel, A L, Challman, T D, Cogné, B, Coubes, C, de Man, S A, Denommé-Pichon, A S, Dye, T J, Elmslie, F, Feuk, L, García-Miñaúr, S, Gertler, T, Giorgio, E, Gruchy, N, Haack, T B, Haldeman-Englert, C R, Haukanes, B I, Hoyer, J, Hurst, A C E, Isidor, B, Soller, M J, Kushary, S, Kvarnung, M, Landau, Y E, Leppig, K A, Lindstrand, A, Kleinendorst, L, MacKenzie, A, Mandrile, G, Mendelsohn, B A, Moghadasi, S, Morton, J E, Moutton, S, Müller, A J, O’Leary, M, Pacio-Míguez, M, Palomares-Bralo, M, Parikh, S, Pfundt, R, Pode-Shakked, B, Rauch, A, Repnikova, E, Revah-Politi, A, Ross, M J, Ruivenkamp, C A L, Sarrazin, E, Savatt, J M, Schlüter, A, Schönewolf-Greulich, B, Shad, Z, Shaw-Smith, C, Shieh, J T, Shohat, M, Spranger, S, Thiese, H, Mau-Them, F T, van Bon, B, van de Burgt, I, van de Laar, I M B H, van Drie, E, van Haelst, M M, van Ravenswaaij-Arts, C M, Verdura, E, Vitobello, A, Waldmüller, S, Whiting, S, Zweier, C, Prada, C E, de Vries, B B A, Dobyns, W B, Reiter, S F, Gómez-Puertas, P, Pujol, A & Tümer, Z 2021, ' DLG4-related synaptopathy : a new rare brain disorder ', Genetics in Medicine, vol. 23, no. 5, pp. 888-899 . https://doi.org/10.1038/s41436-020-01075-9
Genetics in Medicine, 23(5), 888-899. Lippincott Williams & Wilkins
Genetics in medicine, 23(5), 888-899. Lippincott Williams and Wilkins
Genetics in Medicine, 23, 5, pp. 888-899
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Genetics in Medicine. Nature Publishing Group
Genetics in Medicine, 23(5), 888-899. SPRINGERNATURE
Genetics in Medicine, 23, 888-899
DDFV. Repositorio Institucional de la Universidad Francisco de Vitoria
Genetics in Medicine, 23(5), 888-899. Lippincott Williams and Wilkins
Contains fulltext : 245031.pdf (Publisher’s version ) (Closed access) PURPOSE: Postsynaptic density protein-95 (PSD-95), encoded by DLG4, regulates excitatory synaptic function in the brain. Here we present the clinical and genetic features of 53 p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0910c06077f7edaab62257149bc8fa36
https://hal-normandie-univ.archives-ouvertes.fr/hal-03193180
https://hal-normandie-univ.archives-ouvertes.fr/hal-03193180
Autor:
Wen-Hann Tan, Małgorzata J.M. Nowaczyk, Joseph T. Shieh, Anne Slavotinek, John M. Graham, Lynne M. Bird, David D. Weaver, Laurie H. Seaver, Anne Amemiya, Ghayda Mirzaa, Beth A. Kozel, Jennifer M. Kalish, John C. Carey, Anita E. Beck, Margaret P. Adam, Bryan D. Hall, Philip F Giampietro, Kim M. Keppler-Noreuil, David A. Stevenson, Karen W. Gripp, Robin D. Clark, Mary Beth Dinulos, William B. Dobyns, Pedro A. Sanchez-Lara, Roberta A Pagon, Andrew K. Sobering, Michael J. Bamshad, Fowzan S. Alkuraya, Tiong Yang Tan, Brian H.Y. Chung, Alan F. Rope, Elaine H. Zackai, Marc S. Williams, John J. Mulvihill, James T. Bennett, Leslie G. Biesecker, Kyle Retterer, Yuri A. Zarate, Timothy C. Cox, Chad R. Haldeman-Englert, Anne C. Tsai, Ian A. Glass, Cynthia J. Curry, Kenjiro Kosaki, A. Micheil Innes, Katta M. Girisha, Cathy A. Stevens
Publikováno v:
Am J Hum Genet
American journal of human genetics, vol 108, iss 1
American journal of human genetics, vol 108, iss 1
The delineation of disease entities is complex, yet recent advances in the molecular characterization of diseases provide opportunities to designate diseases in a biologically valid manner. Here, we have formalized an approach to the delineation of M
Autor:
Erin Torti, Felix Marbach, Aida Telegrafi, Evgenia Sklirou, Amber Stocco, Jill A. Rosenfeld, Julian A. Martinez-Agosto, Sophia Ceulemans, Dorothy K. Grange, Rebecca Signer, Chad R. Haldeman-Englert, Olivier Lichtarge, Christian P. Schaaf, Rebecca Willaert, Georgi Stoyanov, Panagiotis Katsonis, Christina G.S. Palmer, Stanley F. Nelson, Richard E. Person, Florian Erger, Marisa V. Andrews, Elena Kessler
PurposeWe characterize the phenotypes of six unrelated individuals with intellectual disability and autism spectrum disorder, who carry heterozygous missense-variants of the PRKAR1B gene.MethodsVariants of PRKAR1B were identified by single-exome or t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b799bd93f1cea50ae14b2485a81306dc
https://doi.org/10.1101/2020.09.10.20190314
https://doi.org/10.1101/2020.09.10.20190314
Autor:
Edward Cupler, Fadie D. Altuame, Fowzan S. Alkuraya, Hamad Al-Zaidan, Chad R. Haldeman-Englert, Mais Hashem, Mohammad A. Al Muhaizea
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 185(2)
Klippel-Feil syndrome 4 (KFS4; MIM# 616549) is an autosomal recessive disorder caused by biallelic pathogenic variants in MYO18B and comprises, in addition to Klippel-Feil anomaly (KFA), nemaline myopathy, facial dysmorphism, and short stature. We ai
Autor:
Vishak J. John, Chad R Haldeman-Englert, Sara. V. Branson, Jedediah I. McClintic, Tara H Stamper
Publikováno v:
Ophthalmic Surgery, Lasers and Imaging Retina. 47:183-186
Usher syndrome is an autosomal recessive condition characterized by retinitis pigmentosa (RP) and congenital hearing loss, with or without vestibular dysfunction. Allelic variants of CDH23 cause both Usher syndrome type 1D (USH1D) and a form of nonsy
Autor:
Christy Stanley, Jeffrey M. Denney, Chad R. Haldeman-Englert, Lou Ann Armstrong, Jayne Marshall, Bethany Settle
Publikováno v:
Journal of Ultrasound in Medicine. 36:453-455
Autor:
Steven H. Abman, Karel Allegaert, Bhawna Arya, David Askenazi, Timur Azhibekov, Stephen A. Back, H. Scott Baldwin, Roberta A. Ballard, Eduardo Bancalari, Carlton M. Bates, Maneesh Batra, Cheryl B. Bayart, Gary A. Bellus, Thomas J. Benedetti, John T. Benjamin, James T. Bennett, Gerard T. Berry, Gil Binenbaum, Markus D. Boos, Maryse Bouchard, Heather A. Brandling-Bennett, Darcy E. Broughton, Zane Brown, Katherine H. Campbell, Suzan L. Carmichael, Brian S. Carter, Stephen Cederbaum, Shilpi Chabra, Justine Chang, Edith Y. Cheng, Karen M. Chisholm, Robert D. Christensen, Terrence Chun, Nelson Claure, Ronald I. Clyman, Tarah T. Colaizy, DonnaMaria E. Cortezzo, C. Michael Cotten, Michael L. Cunningham, Alejandra G. de Alba Campomanes, Ellen Dees, Sara B. DeMauro, Scott C. Denne, Emöke Deschmann, Carolina Cecilia, Robert M. DiBlasi, Reed A. Dimmitt, Sara A. DiVall, Orchid Djahangirian, Dan Doherty, Eric C. Eichenwald, Rachel Engen, Cyril Engmann, Jacquelyn R. Evans, Kelly N. Evans, Diana L. Farmer, Patricia Y. Fechner, Patricia Ferrieri, Neil N. Finer, Rachel A. Fleishman, Bobbi Fleiss, Joseph T. Flynn, Katherine T. Flynn-O'Brien, Mark R. Frey, Lydia Furman, Renata C. Gallagher, Estelle B. Gauda, Christine A. Gleason, Michael J. Goldberg, Adam B. Goldin, Sidney M. Gospe, Pierre Gressens, Deepti Gupta, Susan H. Guttentag, Chad R. Haldeman-Englert, Thomas N. Hansen, Anne V. Hing, Sangeeta Hingorani, Susan R. Hintz, Shinjiro Hirose, W. Alan Hodson, Kara K. Hoppe, Margaret K. Hostetter, Benjamin Huang, Sarah Bauer Huang, Terrie E. Inder, Cristian Inoita, J. Craig Jackson, Deepak Jain, Lucky Jain, Patrick J. Javid, Cassandra D. Josephson, Emily S. Jungheim, Sandra E. Juul, Anup Katheria, Benjamin A. Keller, Roberta L. Keller, Thomas F. Kelly, Kate Khorsand, Grace Kim, John P. Kinsella, Ildiko H. Koves, Christina Lam, Erin R. Lane, John D. Lantos, Daniel J. Ledbetter, Ben Lee, Harvey L. Levy, Ofer Levy, Mark B. Lewin, David B. Lewis, P. Ling Lin, Tiffany Fangtse Lin, Scott A. Lorch, Akhil Maheshwari, Emin Maltepe, Ketzela J. Marsh, Richard J. Martin, Dennis E. Mayock, Ryan Michael McAdams, Irene McAleer, Steven J. McElroy, Kera M. McNelis, Patrick McQuillen, William L. Meadow, Paul A. Merguerian, Lina Merjaneh, J. Lawrence Merritt, Valerie Mezger, Marian G. Michaels, Steven P. Miller, Sowmya S. Mohan, Thomas J. Mollen, Thomas R. Moore, Jeffrey C. Murray, Karen F. Murray, Debika Nandi-Munshi, Niranjana Natarajan, Jeffrey J. Neil, Kathryn D. Ness, Josef Neu, Angel Siu-Ying, Shahab Noori, Lila O'Mahony, Jonathan P. Palma, Nigel Paneth, Thomas A. Parker, Ravi Mangal Patel, Anna A. Penn, Christian M. Pettker, Shabnam Peyvandi, Cate Pihoker, Erin Plosa, Brenda B. Poindexter, Michael A. Posencheg, Benjamin E. Reinking, Samuel Rice-Townsend, Morgan K. Richards, C. Peter Richardson, Kelsey Richardson, Kevin M. Riggle, Elizabeth Robbins, Mark D. Rollins, Mark A. Rosen, Courtney K. Rowe, Inderneel Sahai, Sulagna C. Saitta, Parisa Salehi, Pablo Sanchez, Matthew A. Saxonhouse, Richard J. Schanler, Mark R. Schleiss, Thomas Scholz, Andrew L. Schwaderer, David Selewski, Zachary M. Sellers, Istvan Seri, Margarett Shnorhavorian, Eric Sibley, Robert Sidbury, Rebecca Simmons, Caitlin Smith, Martha C. Sola-Visner, Lakshmi Srinivasan, Robin H. Steinhorn, David K. Stevenson, Helen Stolp, Craig Taplin, Peter Tarczy-Hornoch, James A. Taylor, Janet A. Thomas, Tracy Thompson, George E. Tiller, Benjamin A. Torres, Christopher Michael Traudt, John N. van den Anker, Margaret M. Vernon, Betty Vohr, Valencia P. Walker, Linda D. Wallen, Matthew B. Wallenstein, Peter (Zhan Tao) Wang, Bradley A. Warady, Robert M. Ward, Jon F. Watchko, Elias Wehbi, Joern-Hendrik Weitkamp, David Werny, Klane K. White, Laurel Willig, David Woodrum, George A. Woodward, Clyde J. Wright, Jeffrey A. Wright, Karyn Yonekawa, Elaine H. Zackai
Publikováno v:
Avery's Diseases of the Newborn ISBN: 9780323401395
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6586117a138b4783b93ebc7e1ab86739
https://doi.org/10.1016/b978-0-323-40139-5.00114-5
https://doi.org/10.1016/b978-0-323-40139-5.00114-5
Publikováno v:
Avery's Diseases of the Newborn ISBN: 9780323401395
A genetics evaluation should be considered for a patient in the setting of multiple anatomic anomalies, known maternal exposure to a teratogen, a history of familial disorders, increased carrier frequency or ethnic risk, or multiple pregnancy losses.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ba3d6aab3c761b4c13081b6c5822e9bf
https://doi.org/10.1016/b978-0-323-40139-5.00019-x
https://doi.org/10.1016/b978-0-323-40139-5.00019-x