Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 13 (of 13 Records) |
| Query Trace: 16p11.2 Duplication[original query] |
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| 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. Human molecular genetics 2014 Nov 23 (22): 6069-80. Reinthaler Eva M, Lal Dennis, Lebon Sebastien, Hildebrand Michael S, Dahl Hans-Henrik M, Regan Brigid M, Feucht Martha, Steinböck Hannelore, Neophytou Birgit, Ronen Gabriel M, Roche Laurian, Gruber-Sedlmayr Ursula, Geldner Julia, Haberlandt Edda, Hoffmann Per, Herms Stefan, Gieger Christian, Waldenberger Melanie, Franke Andre, Wittig Michael, Schoch Susanne, Becker Albert J, Hahn Andreas, Männik Katrin, Toliat Mohammad R, Winterer Georg, , Lerche Holger, Nürnberg Peter, Mefford Heather, Scheffer Ingrid E, Berkovic Samuel F, Beckmann Jacques S, , , Sander Thomas, Jacquemont Sebastien, Reymond Alexandre, Zimprich Fritz, Neubauer Bernd |
| A rare duplication on chromosome 16p11.2 is identified in patients with psychosis in Alzheimer's disease. PloS one 2014 9 (11): e111462. Zheng Xiaojing, Demirci F Yesim, Barmada M Michael, Richardson Gale A, Lopez Oscar L, Sweet Robert A, Kamboh M Ilyas, Feingold Elean |
| Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders. Amino acids 2015 Jul . Nava Caroline, Rupp Johanna, Boissel Jean-Paul, Mignot Cyril, Rastetter Agnès, Amiet Claire, Jacquette Aurélia, Dupuits Céline, Bouteiller Delphine, Keren Boris, Ruberg Merle, Faudet Anne, Doummar Diane, Philippe Anne, Périsse Didier, Laurent Claudine, Lebrun Nicolas, Guillemot Vincent, Chelly Jamel, Cohen David, Héron Delphine, Brice Alexis, Closs Ellen I, Depienne Christ |
| Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities. JAMA psychiatry 2015 Dec 1-11. D'Angelo Debra, Lebon Sébastien, Chen Qixuan, Martin-Brevet Sandra, Snyder LeeAnne Green, Hippolyte Loyse, Hanson Ellen, Maillard Anne M, Faucett W Andrew, Macé Aurélien, Pain Aurélie, Bernier Raphael, Chawner Samuel J R A, David Albert, Andrieux Joris, Aylward Elizabeth, Baujat Genevieve, Caldeira Ines, Conus Philippe, Ferrari Carrina, Forzano Francesca, Gérard Marion, Goin-Kochel Robin P, Grant Ellen, Hunter Jill V, Isidor Bertrand, Jacquette Aurélia, Jønch Aia E, Keren Boris, Lacombe Didier, Le Caignec Cédric, Martin Christa Lese, Männik Katrin, Metspalu Andres, Mignot Cyril, Mukherjee Pratik, Owen Michael J, Passeggeri Marzia, Rooryck-Thambo Caroline, Rosenfeld Jill A, Spence Sarah J, Steinman Kyle J, Tjernagel Jennifer, Van Haelst Mieke, Shen Yiping, Draganski Bogdan, Sherr Elliott H, Ledbetter David H, van den Bree Marianne B M, Beckmann Jacques S, Spiro John E, Reymond Alexandre, Jacquemont Sébastien, Chung Wendy K, |
| Reciprocal white matter alterations due to 16p11.2 chromosomal deletions versus duplications. Human brain mapping 2016 May . Chang Yi Shin, Owen Julia P, Pojman Nicholas J, Thieu Tony, Bukshpun Polina, Wakahiro Mari L J, Marco Elysa J, Berman Jeffrey I, Spiro John E, Chung Wendy K, Buckner Randy L, Roberts Timothy P L, Nagarajan Srikantan S, Sherr Elliott H, Mukherjee Prat |
| A replication study of schizophrenia-related rare copy number variations in a Han Southern Chinese population. Hereditas 2017 154 2. Yuan Jianmin, Hu Jianlin, Li Zhiqiang, Zhang Fuquan, Zhou Dexiang, Jin Chunh |
| Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity. Nature genetics 2018 12 51 (1): 106-116. Coe Bradley P, Stessman Holly A F, Sulovari Arvis, Geisheker Madeleine R, Bakken Trygve E, Lake Allison M, Dougherty Joseph D, Lein Ed S, Hormozdiari Fereydoun, Bernier Raphael A, Eichler Evan |
| [Adolescent with a schizophreniform disorder and recurrent 16p11.2 duplication]. Tijdschrift voor psychiatrie 2019 61 (6): 421-425. Castelein L, Steyaert J, Peeters H, van Buggenhout |
| Association of Rare Copy Number Variants With Risk of Depression. JAMA psychiatry 2019 Apr . Kendall Kimberley Marie, Rees Elliott, Bracher-Smith Matthew, Legge Sophie, Riglin Lucy, Zammit Stanley, O'Donovan Michael Conlon, Owen Michael John, Jones Ian, Kirov George, Walters James Tynan Rh |
| A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants. The American journal of psychiatry 2021 01 178 (1): 77-86. Chawner Samuel J R A, Doherty Joanne L, Anney Richard J L, Antshel Kevin M, Bearden Carrie E, Bernier Raphael, Chung Wendy K, Clements Caitlin C, Curran Sarah R, Cuturilo Goran, Fiksinski Ania M, Gallagher Louise, Goin-Kochel Robin P, Gur Raquel E, Hanson Ellen, Jacquemont Sebastien, Kates Wendy R, Kushan Leila, Maillard Anne M, McDonald-McGinn Donna M, Mihaljevic Marina, Miller Judith S, Moss Hayley, Pejovic-Milovancevic Milica, Schultz Robert T, Green-Snyder LeeAnne, Vorstman Jacob A, Wenger Tara L, , Hall Jeremy, Owen Michael J, van den Bree Marianne B |
| Genome-wide copy number variant screening of Saudi schizophrenia patients reveals larger deletions in cases versus controls. Frontiers in molecular neuroscience 2023 2 16 1069375. Abumadini Mahdi S, Al Ghamdi Kholoud S, Alqahtani Abdullah H, Almedallah Dana K, Callans Lauren, Jarad Jumanah A, Cyrus Cyril, Koeleman Bobby P C, Keating Brendan J, Pankratz Nathan, Al-Ali Amein |
| The role of copy number variants in the genetic architecture of common familial epilepsies. Epilepsia 2023 12 . Authors are not available |
| TAOK2 Drives Opposing Cilia Length Deficits in 16p11.2 Deletion and Duplication Carriers. bioRxiv : the preprint server for biology 2024 10 . Amy Ferreccio, Sujin Byeon, Moira Cornell, Juan Oses-Prieto, Aditi Deshpande, Lauren A Weiss, Alma Burlingame, Smita Yad |
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