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63 results for Chromosome+Disorders+-+physiopathology

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ArticlesPeer ReviewedFull Text
SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients
Author / Creator:Shcheglovitov, Aleksandr ; Shcheglovitova, Olesya ; Yazawa, Masayuki ; Portmann, Thomas ; Shu, Rui ; Sebastiano, Vittorio ; Krawisz, Anna ; Froehlich, Wendy ; Bernstein, Jonathan A. ; Hallmayer, Joachim F. ; Dolmetsch, Ricardo E.
Publisher:London: Nature Publishing Group UK
Journal title:Nature (London), 2013-11, Vol.503 (7475), p.267-271
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Testicular cancer
Author / Creator:Cheng, Liang ; Albers, Peter ; Berney, Daniel M. ; Feldman, Darren R. ; Daugaard, Gedske ; Gilligan, Timothy ; Looijenga, Leendert H. J.
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Disease primers, 2018-10, Vol.4 (1), p.29-29, Article 29
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Oxytocin improves behavioral and electrophysiological deficits in a novel Shank3-deficient rat
Author / Creator:Harony-Nicolas, Hala ; Kay, Maya ; Hoffmann, Johann du ; Klein, Matthew E ; Bozdagi-Gunal, Ozlem ; Riad, Mohammed ; Daskalakis, Nikolaos P ; Sonar, Sankalp ; Castillo, Pablo E ; Hof, Patrick R ; Shapiro, Matthew L ; Baxter, Mark G ; Wagner, Shlomo ; Buxbaum, Joseph D
Publisher:England: eLife Science Publications, Ltd
Journal title:eLife, 2017-01, Vol.6
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Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion
Author / Creator:Mei, Cristina ; Fedorenko, Evelina ; Amor, David J ; Boys, Amber ; Hoeflin, Caitlyn ; Carew, Peter ; Burgess, Trent ; Fisher, Simon E ; Morgan, Angela T
Publisher:Leiden: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2018-05, Vol.26 (5), p.676-686
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An interaction-based model for neuropsychiatric features of copy-number variants
Author / Creator:Jensen, Matthew ; Girirajan, Santhosh
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2019-01, Vol.15 (1), p.e1007879
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Contribution of mGluR5 to pathophysiology in a mouse model of human chromosome 16p11.2 microdeletion
Author / Creator:Tian, Di ; Stoppel, Laura J ; Heynen, Arnold J ; Lindemann, Lothar ; Jaeschke, Georg ; Mills, Alea A ; Bear, Mark F
Publisher:New York: Nature Publishing Group US
Journal title:Nature neuroscience, 2015-02, Vol.18 (2), p.182-184
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Abnormal Speech Motor Control in Individuals with 16p11.2 Deletions
Author / Creator:Demopoulos, Carly ; Kothare, Hardik ; Mizuiri, Danielle ; Henderson-Sabes, Jennifer ; Fregeau, Brieana ; Tjernagel, Jennifer ; Houde, John F. ; Sherr, Elliott H. ; Nagarajan, Srikantan S.
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2018-01, Vol.8 (1), p.1274-10, Article 1274
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Investigating social orienting in children with Phelan-McDermid syndrome and ‘idiopathic’ autism
Author / Creator:San José Cáceres, Antonia ; Wilkinson, Emma ; Cooke, Jennifer ; Baskett, Victoria ; Blackmore, Charlotte ; Crawley, Daisy Victoria ; Durkin, Allison ; Halpern, Danielle ; Núñez, María ; Siper, Page ; Murphy, Declan G. ; Foss-Feig, Jennifer ; Kolevzon, Alexander ; Loth, Eva
Publisher:England: BioMed Central Ltd
Journal title:Journal of neurodevelopmental disorders, 2024-11, Vol.16 (1), p.64-11, Article 64
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Developmental milestones and cognitive trajectories in school-aged children with 16p11.2 deletion
Author / Creator:Verbesselt, Jente ; Breckpot, Jeroen ; Zink, Inge ; Swillen, Ann
Publisher:England: BioMed Central Ltd
Journal title:Journal of neurodevelopmental disorders, 2025-06, Vol.17 (1), p.33-13
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Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations
Author / Creator:Oberman, Lindsay M. ; Boccuto, Luigi ; Cascio, Lauren ; Sarasua, Sara ; Kaufmann, Walter E.
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2015-08, Vol.10 (1), p.105-105, Article 105
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Chromosomal abnormalities in couples with recurrent spontaneous miscarriage: a 21-year retrospective study, a report of a novel insertion, and a literature review
Author / Creator:Elkarhat, Zouhair ; Kindil, Zineb ; Zarouf, Latifa ; Razoki, Lunda ; Aboulfaraj, Jamila ; Elbakay, Chadli ; Nassereddine, Sanaa ; Nasser, Boubker ; Barakat, Abdelhamid ; Rouba, Hassan
Publisher:New York: Springer US
Journal title:Journal of assisted reproduction and genetics, 2019-03, Vol.36 (3), p.499-507
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Altered sleep architecture, rapid eye movement sleep, and neural oscillation in a mouse model of human chromosome 16p11.2 microdeletion
Author / Creator:Lu, Hung-Chi ; Pollack, Harvey ; Lefante, John J ; Mills, Alea A ; Tian, Di
Publisher:US: Oxford University Press
Journal title:Sleep (New York, N.Y.), 2019-03, Vol.42 (3), p.1
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Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome
Author / Creator:Levy, Tess ; Gluckman, Jacob ; Siper, Paige M. ; Halpern, Danielle ; Zweifach, Jessica ; Filip-Dhima, Rajna ; Holder, J. Lloyd ; Trelles, M. Pilar ; Johnson, Kristina ; Bernstein, Jonathan A. ; Berry-Kravis, Elizabeth ; Powell, Craig M. ; Soorya, Latha Valluripalli ; Thurm, Audrey ; Buxbaum, Joseph D. ; Sahin, Mustafa ; Kolevzon, Alexander ; Srivastava, Siddharth
Publisher:England: BioMed Central Ltd
Journal title:Journal of neurodevelopmental disorders, 2024-05, Vol.16 (1), p.25-12, Article 25
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Protein-truncating variants and deletions of SHANK2 are associated with autism spectrum disorder and other neurodevelopmental concerns
Author / Creator:Silver, Hailey ; Greenberg, Rori ; Siper, Paige M. ; Zweifach, Jessica ; Soufer, Renee ; Sahin, Mustafa ; Berry-Kravis, Elizabeth ; Soorya, Latha Valluripalli ; Thurm, Audrey ; Bernstein, Jonathan A. ; Kolevzon, Alexander ; Grice, Dorothy E. ; Buxbaum, Joseph D. ; Levy, Tess
Publisher:England: BioMed Central Ltd
Journal title:Journal of neurodevelopmental disorders, 2025-04, Vol.17 (1), p.25-12, Article 25
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Sleep Disturbances in Individuals With Phelan-McDermid Syndrome: Correlation With Caregivers’ Sleep Quality and Daytime Functioning
Author / Creator:Bro, Della ; O’Hara, Ruth ; Primeau, Michelle ; Hanson-Kahn, Andrea ; Hallmayer, Joachim ; Bernstein, Jonathan A.
Publisher:United States: Oxford University Press
Journal title:Sleep (New York, N.Y.), 2017-02, Vol.40 (2)
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22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan–McDermid syndrome
Author / Creator:Sarasua, Sara M. ; Dwivedi, Alka ; Boccuto, Luigi ; Chen, Chin-Fu ; Sharp, Julia L. ; Rollins, Jonathan D. ; Collins, Julianne S. ; Rogers, R. Curtis ; Phelan, Katy ; DuPont, Barbara R.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2014-04, Vol.16 (4), p.318-328
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Reduced Life- and Healthspan in Mice Carrying a Mono-Allelic BubR1 MVA Mutation
Author / Creator:Wijshake, Tobias ; Malureanu, Liviu A. ; Baker, Darren J. ; Jeganathan, Karthik B. ; van de Sluis, Bart ; van Deursen, Jan M.
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2012-12, Vol.8 (12), p.e1003138
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Clinical, developmental and serotonemia phenotyping of a sample of 70 Italian patients with Phelan-McDermid Syndrome
Author / Creator:Asta, Lisa ; Ricciardello, Arianna ; Cucinotta, Francesca ; Turriziani, Laura ; Boncoddo, Maria ; Bellomo, Fabiana ; Angelini, Jessica ; Gnazzo, Martina ; Scandolo, Giulia ; Pisanò, Giulia ; Pelagatti, Francesco ; Chehbani, Fethia ; Camia, Michela ; Persico, Antonio M.
Publisher:England: BMC
Journal title:Journal of neurodevelopmental disorders, 2024-10, Vol.16 (1), p.57-24, Article 57
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Association between deletion size and important phenotypes expands the genomic region of interest in Phelan–McDermid syndrome (22q13 deletion syndrome)
Author / Creator:Sarasua, Sara M ; Dwivedi, Alka ; Boccuto, Luigi ; Rollins, Jonathan D ; Chen, Chin-Fu ; Rogers, R Curtis ; Phelan, Katy ; DuPont, Barbara R ; Collins, Julianne S
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2011-11, Vol.48 (11), p.761-766
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The complex behavioral phenotype of 15q13.3 microdeletion syndrome
Author / Creator:Ziats, Mark N. ; Goin-Kochel, Robin P. ; Berry, Leandra N. ; Ali, May ; Ge, Jun ; Guffey, Danielle ; Rosenfeld, Jill A. ; Bader, Patricia ; Gambello, Michael J. ; Wolf, Varina ; Penney, Lynette S. ; Miller, Ryan ; Lebel, Robert Roger ; Kane, Jeffrey ; Bachman, Kristine ; Troxell, Robin ; Clark, Gary ; Minard, Charles G. ; Stankiewicz, Pawel ; Beaudet, Arthur ; Schaaf, Christian P.
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2016-11, Vol.18 (11), p.1111-1118
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Showing 1 to 20 of 63 results

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SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients

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Testicular cancer

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Oxytocin improves behavioral and electrophysiological deficits in a novel Shank3-deficient rat

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Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion

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An interaction-based model for neuropsychiatric features of copy-number variants

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Contribution of mGluR5 to pathophysiology in a mouse model of human chromosome 16p11.2 microdeletion

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Abnormal Speech Motor Control in Individuals with 16p11.2 Deletions

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Investigating social orienting in children with Phelan-McDermid syndrome and ‘idiopathic’ autism

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Developmental milestones and cognitive trajectories in school-aged children with 16p11.2 deletion

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Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations

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Chromosomal abnormalities in couples with recurrent spontaneous miscarriage: a 21-year retrospective study, a report of a novel insertion, and a literature review

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Altered sleep architecture, rapid eye movement sleep, and neural oscillation in a mouse model of human chromosome 16p11.2 microdeletion

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Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome

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Protein-truncating variants and deletions of SHANK2 are associated with autism spectrum disorder and other neurodevelopmental concerns

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Sleep Disturbances in Individuals With Phelan-McDermid Syndrome: Correlation With Caregivers’ Sleep Quality and Daytime Functioning

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22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan–McDermid syndrome

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Reduced Life- and Healthspan in Mice Carrying a Mono-Allelic BubR1 MVA Mutation

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Clinical, developmental and serotonemia phenotyping of a sample of 70 Italian patients with Phelan-McDermid Syndrome

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Association between deletion size and important phenotypes expands the genomic region of interest in Phelan–McDermid syndrome (22q13 deletion syndrome)

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The complex behavioral phenotype of 15q13.3 microdeletion syndrome

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