ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity
Hirata, Hiromi, Nanda, Indrajit, van Riesen, Anne, McMichael, Gai, Hu, Hao, Hambrock, Melanie, Papon, Marie-Amélie, Fischer, Ute, Marouillat, Sylviane, Ding, Can, Alirol, Servane, Bienek, Melanie, Preisler-Adams, Sabine, Grimme, Astrid, Seelow, Dominik, Webster, Richard, Haan, Eric, MacLennan, Alastair, Stenzel, Werner, Yap, Tzu Ying, Gardner, Alison, Nguyen, Lam Son, Shaw, Marie, Lebrun, Nicolas, Haas, Stefan A., Kress, Wolfram, Haaf, Thomas, Schellenberger, Elke, Chelly, Jamel, Viot, Géraldine, Shaffer, Lisa G., Rosenfeld, Jill A., Kramer, Nancy, Falk, Rena, El-Khechen, Dima, Escobar, Luis F., Hennekam, Raoul, Wieacker, Peter, Hübner, Christoph, Ropers, Hans-Hilger, Gecz, Jozef, Schuelke, Markus, Laumonnier, Frédéric, Kalscheuer, Vera M.
Published in American journal of human genetics (02.05.2013)
Published in American journal of human genetics (02.05.2013)
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Journal Article
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication
Ballif, Blake C, Theisen, Aaron, Coppinger, Justine, Gowans, Gordon C, Hersh, Joseph H, Madan-Khetarpal, Suneeta, Schmidt, Karen R, Tervo, Raymond, Escobar, Luis F, Friedrich, Christopher A, McDonald, Marie, Campbell, Lindsey, Ming, Jeffrey E, Zackai, Elaine H, Bejjani, Bassem A, Shaffer, Lisa G
Published in Molecular cytogenetics (28.04.2008)
Published in Molecular cytogenetics (28.04.2008)
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Journal Article
Seismic Behavior of a Steel Beam-to-Concrete-Filled Steel Tubular Column Connection Using External Diaphragms
Ramirez Ortiz, Cristhian, Areiza Palma, Gilberto, Gutierrez Amador, Albio, Ramirez Duque, Jose, Cano Buitron, Ruth, Gonzales Escobar, Luis
Published in Applied sciences (01.04.2022)
Published in Applied sciences (01.04.2022)
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Journal Article
A second family with CATSHL syndrome: Confirmatory report of another unique FGFR3 syndrome
Escobar, Luis F., Tucker, Megan, Bamshad, Michael
Published in American journal of medical genetics. Part A (01.07.2016)
Published in American journal of medical genetics. Part A (01.07.2016)
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Journal Article
New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome
Rosenfeld, Jill A, Lacassie, Yves, El-Khechen, Dima, Escobar, Luis F, Reggin, James, Heuer, Carolyn, Chen, Emily, Jenkins, Lauren S, Collins, A. Thomas, Zinner, Samuel, Babcock, Melanie, Morrow, Bernice, Schultz, Roger A, Torchia, Beth S, Ballif, Blake C, Tsuchiya, Karen D, Shaffer, Lisa G
Published in European journal of medical genetics (01.01.2011)
Published in European journal of medical genetics (01.01.2011)
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Journal Article
National Income Inequality and International Business Expansion
Lupton, Nathaniel C., Jiang, Guoliang Frank, Escobar, Luis F., Jiménez, Alfredo
Published in Business & society (01.11.2020)
Published in Business & society (01.11.2020)
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Journal Article
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Eichler, Evan E, Girirajan, Santhosh, Rosenfeld, Jill A, Cooper, Gregory M, Antonacci, Francesca, Siswara, Priscillia, Itsara, Andy, Vives, Laura, Walsh, Tom, McCarthy, Shane E, Baker, Carl, Mefford, Heather C, Kidd, Jeffrey M, Browning, Sharon R, Browning, Brian L, Dickel, Diane E, Levy, Deborah L, Ballif, Blake C, Platky, Kathryn, Farber, Darren M, Gowans, Gordon C, Wetherbee, Jessica J, Asamoah, Alexander, Weaver, David D, Mark, Paul R, Dickerson, Jennifer, Garg, Bhuwan P, Ellingwood, Sara A, Smith, Rosemarie, Banks, Valerie C, Smith, Wendy, McDonald, Marie T, Hoo, Joe J, French, Beatrice N, Hudson, Cindy, Johnson, John P, Ozmore, Jillian R, Moeschler, John B, Surti, Urvashi, Escobar, Luis F, El-Khechen, Dima, Gorski, Jerome L, Kussmann, Jennifer, Salbert, Bonnie, Lacassie, Yves, Biser, Alisha, McDonald-McGinn, Donna M, Zackai, Elaine H, Deardorff, Matthew A, Shaikh, Tamim H, Haan, Eric, Friend, Kathryn L, Fichera, Marco, Romano, Corrado, Gécz, Jozef, DeLisi, Lynn E, Sebat, Jonathan, King, Mary-Claire, Shaffer, Lisa G
Published in Nature genetics (01.03.2010)
Published in Nature genetics (01.03.2010)
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Journal Article
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature
Torti, Erin, Keren, Boris, Palmer, Elizabeth E., Zhu, Zehua, Afenjar, Alexandra, Anderson, Ilse. J., Andrews, Marisa V., Atkinson, Celia, Au, Margaret, Berry, Susan A., Bowling, Kevin M., Boyle, Jackie, Buratti, Julien, Cathey, Sara S., Charles, Perrine, Cogne, Benjamin, Courtin, Thomas, Escobar, Luis F., Finley, Sabra Ledare, Graham, John M., Grange, Dorothy K., Heron, Delphine, Hewson, Stacy, Hiatt, Susan M., Hibbs, Kathleen A., Jayakar, Parul, Kalsner, Louisa, Larcher, Lise, Lesca, Gaetan, Mark, Paul R., Miller, Kathryn, Nava, Caroline, Nizon, Mathilde, Pai, G. Shashidhar, Pappas, John, Parsons, Gretchen, Payne, Katelyn, Putoux, Audrey, Rabin, Rachel, Sabatier, Isabelle, Shinawi, Marwan, Shur, Natasha, Skinner, Steven A., Valence, Stephanie, Warren, Hannah, Whalen, Sandra, Crunk, Amy, Douglas, Ganka, Monaghan, Kristin G., Person, Richard E., Willaert, Rebecca, Solomon, Benjamin D., Juusola, Jane
Published in Genetics in medicine (01.09.2019)
Published in Genetics in medicine (01.09.2019)
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Journal Article
Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features
Stolerman, Elliot S., Francisco, Elizabeth, Stallworth, Jennifer L., Jones, Julie R., Monaghan, Kristin G., Keller‐Ramey, Jennifer, Person, Richard, Wentzensen, Ingrid M., McWalter, Kirsty, Keren, Boris, Heron, Benedicte, Nava, Caroline, Heron, Delphine, Kim, Katherine, Burton, Barbara, Al‐Musafri, Fatima, O'Grady, Lauren, Sahai, Inderneel, Escobar, Luis F., Meuwissen, Marije, Reyniers, Edwin, Kooy, Frank, Lacassie, Yves, Gunay‐Aygun, Meral, Schatz, Krista Sondergaard, Hochstenbach, Ron, Zwijnenburg, Petra J.G., Waisfisz, Quinten, Slegtenhorst, Marjon, Mancini, Grazia M.S., Louie, Raymond J.
Published in American journal of medical genetics. Part A (01.07.2019)
Published in American journal of medical genetics. Part A (01.07.2019)
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Journal Article
Investigation of NRXN1 deletions: Clinical and molecular characterization
Dabell, Mindy Preston, Rosenfeld, Jill A., Bader, Patricia, Escobar, Luis F., El-Khechen, Dima, Vallee, Stephanie E., Dinulos, Mary Beth Palko, Curry, Cynthia, Fisher, Jamie, Tervo, Raymond, Hannibal, Mark C., Siefkas, Kiana, Wyatt, Philip R., Hughes, Lauren, Smith, Rosemarie, Ellingwood, Sara, Lacassie, Yves, Stroud, Tracy, Farrell, Sandra A., Sanchez-Lara, Pedro A., Randolph, Linda M., Niyazov, Dmitriy, Stevens, Cathy A., Schoonveld, Cheri, Skidmore, David, MacKay, Sara, Miles, Judith H., Moodley, Manikum, Huillet, Adam, Neill, Nicholas J., Ellison, Jay W., Ballif, Blake C., Shaffer, Lisa G.
Published in American journal of medical genetics. Part A (01.04.2013)
Published in American journal of medical genetics. Part A (01.04.2013)
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Journal Article
Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation
Handrigan, Gregory Ryan, Chitayat, David, Lionel, Anath C, Pinsk, Maury, Vaags, Andrea K, Marshall, Christian R, Dyack, Sarah, Escobar, Luis F, Fernandez, Bridget A, Stegman, Joseph C, Rosenfeld, Jill A, Shaffer, Lisa G, Goodenberger, McKinsey, Hodge, Jennelle C, Cain, Jason E, Babul-Hirji, Riyana, Stavropoulos, Dimitri J, Yiu, Verna, Scherer, Stephen W, Rosenblum, Norman D
Published in Journal of medical genetics (01.03.2013)
Published in Journal of medical genetics (01.03.2013)
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Journal Article
Significant phenotypic variability of Muenke syndrome in identical twins
Escobar, Luis F., Hiett, Adam K., Marnocha, Anne
Published in American journal of medical genetics. Part A (01.06.2009)
Published in American journal of medical genetics. Part A (01.06.2009)
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Journal Article
De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay
Yang, Hui, Douglas, Ganka, Monaghan, Kristin G, Retterer, Kyle, Cho, Megan T, Escobar, Luis F, Tucker, Megan E, Stoler, Joan, Rodan, Lance H, Stein, Diane, Marks, Warren, Enns, Gregory M, Platt, Julia, Cox, Rachel, Wheeler, Patricia G, Crain, Carrie, Calhoun, Amy, Tryon, Rebecca, Richard, Gabriele, Vitazka, Patrik, Chung, Wendy K
Published in Cold Spring Harbor molecular case studies (01.10.2015)
Published in Cold Spring Harbor molecular case studies (01.10.2015)
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Journal Article
161: Triplet gestation and developmental outcomes
Moore, Elizabeth S, Ramsey, Curtis J, Escobar, Luis F, Sumners, James E
Published in American journal of obstetrics and gynecology (01.12.2009)
Published in American journal of obstetrics and gynecology (01.12.2009)
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Journal Article
Expression of Membrane Progesterone Receptors in Eutopic and Ectopic Endometrium of Women with Endometriosis
Hernández-López, Luis A., Reyes-Mayoral, Christian, Sánchez-Ramírez, Brenda, Osorio-Caballero, Mauricio, García-Gómez, Elizabeth, Estrada-Gutierrez, Guadalupe, Cerbón, Marco, Camacho-Arroyo, Ignacio, Escobar-Ponce, Luis F., Silvestri-Tomassoni, J. Roberto, Cruz-Orozco, Oliver, Parra-Hernández, Sandra, Solis-Paredes, Mario, Hermenegildo-Molina, Ana Lorena, Bello-Alvarez, Claudia, Vázquez-Martínez, Edgar Ricardo, Olguín-Ortega, Andrea
Published in BioMed research international (2020)
Published in BioMed research international (2020)
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