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Start Over Author "Escobar, Luis" Journal american journal of medical genetics part a
10 results on '"Escobar, Luis"'

1. Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features

Author

Stolerman, Elliot S., primary, Francisco, Elizabeth, additional, Stallworth, Jennifer L., additional, Jones, Julie R., additional, Monaghan, Kristin G., additional, Keller‐Ramey, Jennifer, additional, Person, Richard, additional, Wentzensen, Ingrid M., additional, McWalter, Kirsty, additional, Keren, Boris, additional, Heron, Benedicte, additional, Nava, Caroline, additional, Heron, Delphine, additional, Kim, Katherine, additional, Burton, Barbara, additional, Al‐Musafri, Fatima, additional, O'Grady, Lauren, additional, Sahai, Inderneel, additional, Escobar, Luis F., additional, Meuwissen, Marije, additional, Reyniers, Edwin, additional, Kooy, Frank, additional, Lacassie, Yves, additional, Gunay‐Aygun, Meral, additional, Schatz, Krista Sondergaard, additional, Hochstenbach, Ron, additional, Zwijnenburg, Petra J.G., additional, Waisfisz, Quinten, additional, Slegtenhorst, Marjon, additional, Mancini, Grazia M.S., additional, and Louie, Raymond J., additional

Published
2019
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2. SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases

Author

Zarate, Yuri A., primary, Bhoj, Elizabeth, additional, Kaylor, Julie, additional, Li, Dong, additional, Tsurusaki, Yoshinori, additional, Miyake, Noriko, additional, Matsumoto, Naomichi, additional, Phadke, Shubha, additional, Escobar, Luis, additional, Irani, Afifa, additional, Hakonarson, Hakon, additional, and Schrier Vergano, Samantha A., additional

Published
2016
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4. Recurrent duplications of 17q12 associated with variable phenotypes

Author

Mitchell, Elyse, primary, Douglas, Andrew, additional, Kjaegaard, Susanne, additional, Callewaert, Bert, additional, Vanlander, Arnaud, additional, Janssens, Sandra, additional, Yuen, Amy Lawson, additional, Skinner, Cindy, additional, Failla, Pinella, additional, Alberti, Antonino, additional, Avola, Emanuela, additional, Fichera, Marco, additional, Kibaek, Maria, additional, Digilio, Maria C., additional, Hannibal, Mark C., additional, den Hollander, Nicolette S., additional, Bizzarri, Veronica, additional, Renieri, Alessandra, additional, Mencarelli, Maria Antonietta, additional, Fitzgerald, Tomas, additional, Piazzolla, Serena, additional, van Oudenhove, Elke, additional, Romano, Corrado, additional, Schwartz, Charles, additional, Eichler, Evan E., additional, Slavotinek, Anne, additional, Escobar, Luis, additional, Rajan, Diana, additional, Crolla, John, additional, Carter, Nigel, additional, Hodge, Jennelle C., additional, and Mefford, Heather C., additional

Published
2015
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5. Investigation ofNRXN1deletions: Clinical and molecular characterization

Author

Dabell, Mindy Preston, primary, Rosenfeld, Jill A., additional, Bader, Patricia, additional, Escobar, Luis F., additional, El-Khechen, Dima, additional, Vallee, Stephanie E., additional, Dinulos, Mary Beth Palko, additional, Curry, Cynthia, additional, Fisher, Jamie, additional, Tervo, Raymond, additional, Hannibal, Mark C., additional, Siefkas, Kiana, additional, Wyatt, Philip R., additional, Hughes, Lauren, additional, Smith, Rosemarie, additional, Ellingwood, Sara, additional, Lacassie, Yves, additional, Stroud, Tracy, additional, Farrell, Sandra A., additional, Sanchez-Lara, Pedro A., additional, Randolph, Linda M., additional, Niyazov, Dmitriy, additional, Stevens, Cathy A., additional, Schoonveld, Cheri, additional, Skidmore, David, additional, MacKay, Sara, additional, Miles, Judith H., additional, Moodley, Manikum, additional, Huillet, Adam, additional, Neill, Nicholas J., additional, Ellison, Jay W., additional, Ballif, Blake C., additional, and Shaffer, Lisa G., additional

Published
2013
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10. Investigation of NRXN1 deletions: clinical and molecular characterization.

Author

Dabell MP, Rosenfeld JA, Bader P, Escobar LF, El-Khechen D, Vallee SE, Dinulos MB, Curry C, Fisher J, Tervo R, Hannibal MC, Siefkas K, Wyatt PR, Hughes L, Smith R, Ellingwood S, Lacassie Y, Stroud T, Farrell SA, Sanchez-Lara PA, Randolph LM, Niyazov D, Stevens CA, Schoonveld C, Skidmore D, MacKay S, Miles JH, Moodley M, Huillet A, Neill NJ, Ellison JW, Ballif BC, and Shaffer LG

Subjects
Abnormalities, Multiple diagnosis, Abnormalities, Multiple genetics, Adolescent, Adult, Autistic Disorder genetics, Calcium-Binding Proteins, Child, Child, Preschool, Comparative Genomic Hybridization, Developmental Disabilities genetics, Exons, Facies, Female, Gene-Environment Interaction, Genome-Wide Association Study, Humans, Infant, Intellectual Disability genetics, Male, Middle Aged, Neural Cell Adhesion Molecules, Penetrance, Phenotype, Schizophrenia genetics, Young Adult, Cell Adhesion Molecules, Neuronal genetics, Gene Deletion, Nerve Tissue Proteins genetics
Abstract

Deletions at 2p16.3 involving exons of NRXN1 are associated with susceptibility for autism and schizophrenia, and similar deletions have been identified in individuals with developmental delay and dysmorphic features. We have identified 34 probands with exonic NRXN1 deletions following referral for clinical microarray-based comparative genomic hybridization. To more firmly establish the full phenotypic spectrum associated with exonic NRXN1 deletions, we report the clinical features of 27 individuals with NRXN1 deletions, who represent 23 of these 34 families. The frequency of exonic NRXN1 deletions among our postnatally diagnosed patients (0.11%) is significantly higher than the frequency among reported controls (0.02%; P = 6.08 × 10(-7) ), supporting a role for these deletions in the development of abnormal phenotypes. Generally, most individuals with NRXN1 exonic deletions have developmental delay (particularly speech), abnormal behaviors, and mild dysmorphic features. In our cohort, autism spectrum disorders were diagnosed in 43% (10/23), and 16% (4/25) had epilepsy. The presence of NRXN1 deletions in normal parents and siblings suggests reduced penetrance and/or variable expressivity, which may be influenced by genetic, environmental, and/or stochastic factors. The pathogenicity of these deletions may also be affected by the location of the deletion within the gene. Counseling should appropriately represent this spectrum of possibilities when discussing recurrence risks or expectations for a child found to have a deletion in NRXN1., (Copyright © 2013 Wiley Periodicals, Inc.)

Published
2013
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