Literature DB >> 29712475

Developmental Delay, Treatment-Resistant Psychosis, and Early-Onset Dementia in a Man With 22q11 Deletion Syndrome and Huntington's Disease.

Martilias Farrell1, Maya Lichtenstein1, James J Crowley1, Dawn M Filmyer1, Gabriel Lázaro-Muñoz1, Rita A Shaughnessy1, Ian R Mackenzie1, Veronica Hirsch-Reinshagen1, Robert Stowe1, James P Evans1, Jonathan S Berg1, Jin Szatkiewicz1, Richard C Josiassen1, Patrick F Sullivan1.   

Abstract

Entities:  

Keywords:  22q11 DS; Genetics; Huntington’s disease; Schizophrenia

Mesh：

Year:  2018        PMID： 29712475      PMCID： PMC5935124          DOI： 10.1176/appi.ajp.2017.17060638

Source DB:  PubMed          Journal:  Am J Psychiatry        ISSN： 0002-953X            Impact factor:   18.112


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  36 in total

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7.  Molecular analysis and clinical correlations of the Huntington's disease mutation.

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8.  Psychiatric syndromes in Huntington's disease.

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9.  Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects.

Authors:  Christian R Marshall; Daniel P Howrigan; Daniele Merico; Bhooma Thiruvahindrapuram; Wenting Wu; Douglas S Greer; Danny Antaki; Aniket Shetty; Peter A Holmans; Dalila Pinto; Madhusudan Gujral; William M Brandler; Dheeraj Malhotra; Zhouzhi Wang; Karin V Fuentes Fajarado; Michelle S Maile; Stephan Ripke; Ingrid Agartz; Margot Albus; Madeline Alexander; Farooq Amin; Joshua Atkins; Silviu A Bacanu; Richard A Belliveau; Sarah E Bergen; Marcelo Bertalan; Elizabeth Bevilacqua; Tim B Bigdeli; Donald W Black; Richard Bruggeman; Nancy G Buccola; Randy L Buckner; Brendan Bulik-Sullivan; William Byerley; Wiepke Cahn; Guiqing Cai; Murray J Cairns; Dominique Campion; Rita M Cantor; Vaughan J Carr; Noa Carrera; Stanley V Catts; Kimberley D Chambert; Wei Cheng; C Robert Cloninger; David Cohen; Paul Cormican; Nick Craddock; Benedicto Crespo-Facorro; James J Crowley; David Curtis; Michael Davidson; Kenneth L Davis; Franziska Degenhardt; Jurgen Del Favero; Lynn E DeLisi; Dimitris Dikeos; Timothy Dinan; Srdjan Djurovic; Gary Donohoe; Elodie Drapeau; Jubao Duan; Frank Dudbridge; Peter Eichhammer; Johan Eriksson; Valentina Escott-Price; Laurent Essioux; Ayman H Fanous; Kai-How Farh; Martilias S Farrell; Josef Frank; Lude Franke; Robert Freedman; Nelson B Freimer; Joseph I Friedman; Andreas J Forstner; Menachem Fromer; Giulio Genovese; Lyudmila Georgieva; Elliot S Gershon; Ina Giegling; Paola Giusti-Rodríguez; Stephanie Godard; Jacqueline I Goldstein; Jacob Gratten; Lieuwe de Haan; Marian L Hamshere; Mark Hansen; Thomas Hansen; Vahram Haroutunian; Annette M Hartmann; Frans A Henskens; Stefan Herms; Joel N Hirschhorn; Per Hoffmann; Andrea Hofman; Hailiang Huang; Masashi Ikeda; Inge Joa; Anna K Kähler; René S Kahn; Luba Kalaydjieva; Juha Karjalainen; David Kavanagh; Matthew C Keller; Brian J Kelly; James L Kennedy; Yunjung Kim; James A Knowles; Bettina Konte; Claudine Laurent; Phil Lee; S Hong Lee; Sophie E Legge; Bernard Lerer; Deborah L Levy; Kung-Yee Liang; Jeffrey Lieberman; Jouko Lönnqvist; Carmel M Loughland; Patrik K E Magnusson; Brion S Maher; Wolfgang Maier; Jacques Mallet; Manuel Mattheisen; Morten Mattingsdal; Robert W McCarley; Colm McDonald; Andrew M McIntosh; Sandra Meier; Carin J Meijer; Ingrid Melle; Raquelle I Mesholam-Gately; Andres Metspalu; Patricia T Michie; Lili Milani; Vihra Milanova; Younes Mokrab; Derek W Morris; Bertram Müller-Myhsok; Kieran C Murphy; Robin M Murray; Inez Myin-Germeys; Igor Nenadic; Deborah A Nertney; Gerald Nestadt; Kristin K Nicodemus; Laura Nisenbaum; Annelie Nordin; Eadbhard O'Callaghan; Colm O'Dushlaine; Sang-Yun Oh; Ann Olincy; Line Olsen; F Anthony O'Neill; Jim Van Os; Christos Pantelis; George N Papadimitriou; Elena Parkhomenko; Michele T Pato; Tiina Paunio; Diana O Perkins; Tune H Pers; Olli Pietiläinen; Jonathan Pimm; Andrew J Pocklington; John Powell; Alkes Price; Ann E Pulver; Shaun M Purcell; Digby Quested; Henrik B Rasmussen; Abraham Reichenberg; Mark A Reimers; Alexander L Richards; Joshua L Roffman; Panos Roussos; Douglas M Ruderfer; Veikko Salomaa; Alan R Sanders; Adam Savitz; Ulrich Schall; Thomas G Schulze; Sibylle G Schwab; Edward M Scolnick; Rodney J Scott; Larry J Seidman; Jianxin Shi; Jeremy M Silverman; Jordan W Smoller; Erik Söderman; Chris C A Spencer; Eli A Stahl; Eric Strengman; Jana Strohmaier; T Scott Stroup; Jaana Suvisaari; Dragan M Svrakic; Jin P Szatkiewicz; Srinivas Thirumalai; Paul A Tooney; Juha Veijola; Peter M Visscher; John Waddington; Dermot Walsh; Bradley T Webb; Mark Weiser; Dieter B Wildenauer; Nigel M Williams; Stephanie Williams; Stephanie H Witt; Aaron R Wolen; Brandon K Wormley; Naomi R Wray; Jing Qin Wu; Clement C Zai; Rolf Adolfsson; Ole A Andreassen; Douglas H R Blackwood; Elvira Bramon; Joseph D Buxbaum; Sven Cichon; David A Collier; Aiden Corvin; Mark J Daly; Ariel Darvasi; Enrico Domenici; Tõnu Esko; Pablo V Gejman; Michael Gill; Hugh Gurling; Christina M Hultman; Nakao Iwata; Assen V Jablensky; Erik G Jönsson; Kenneth S Kendler; George Kirov; Jo Knight; Douglas F Levinson; Qingqin S Li; Steven A McCarroll; Andrew McQuillin; Jennifer L Moran; Bryan J Mowry; Markus M Nöthen; Roel A Ophoff; Michael J Owen; Aarno Palotie; Carlos N Pato; Tracey L Petryshen; Danielle Posthuma; Marcella Rietschel; Brien P Riley; Dan Rujescu; Pamela Sklar; David St Clair; James T R Walters; Thomas Werge; Patrick F Sullivan; Michael C O'Donovan; Stephen W Scherer; Benjamin M Neale; Jonathan Sebat
Journal:  Nat Genet       Date:  2016-11-21       Impact factor: 38.330

Review 10.  Psychiatric manifestations of treatable hereditary metabolic disorders in adults.

Authors:  Caroline Demily; Frédéric Sedel
Journal:  Ann Gen Psychiatry       Date:  2014-09-24       Impact factor: 3.455
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  6 in total

1.  Integrating Genomics into Psychiatric Practice: Ethical and Legal Challenges for Clinicians.

Authors:  Eric T Ward; Kristin M Kostick; Gabriel Lázaro-Muñoz
Journal:  Harv Rev Psychiatry       Date:  2019 Jan/Feb       Impact factor: 3.732

2.  Targeted Treatment of Individuals With Psychosis Carrying a Copy Number Variant Containing a Genomic Triplication of the Glycine Decarboxylase Gene.

Authors:  J Alexander Bodkin; Michael J Coleman; Laura J Godfrey; Claudia M B Carvalho; Charity J Morgan; Raymond F Suckow; Thea Anderson; Dost Öngür; Marc J Kaufman; Kathryn E Lewandowski; Arthur J Siegel; Elliot Waldstreicher; Christopher M Grochowski; Daniel C Javitt; Dan Rujescu; Scott Hebbring; Richard Weinshilboum; Stephanie Burgos Rodriguez; Colette Kirchhoff; Timothy Visscher; Alexander Vuckovic; Allison Fialkowski; Shane McCarthy; Dheeraj Malhotra; Jonathan Sebat; Donald C Goff; James I Hudson; James R Lupski; Joseph T Coyle; Uwe Rudolph; Deborah L Levy
Journal:  Biol Psychiatry       Date:  2019-05-09       Impact factor: 13.382

3.  The genomics of major psychiatric disorders in a large pedigree from Northern Sweden.

Authors:  Jin Szatkiewicz; James J Crowley; Annelie Nordin Adolfsson; Karolina A Åberg; Maaike Alaerts; Giulio Genovese; Steven McCarroll; Jurgen Del-Favero; Rolf Adolfsson; Patrick F Sullivan
Journal:  Transl Psychiatry       Date:  2019-02-04       Impact factor: 6.222

4.  Adverse effects of antipsychotic medication in patients with 22q11.2 deletion syndrome: A systematic review.

Authors:  Janna de Boer; Erik Boot; Lissa van Gils; Therese van Amelsvoort; Janneke Zinkstok
Journal:  Am J Med Genet A       Date:  2019-08-13       Impact factor: 2.802

Review 5.  Treatment-resistant psychotic symptoms and the 15q11.2 BP1-BP2 (Burnside-Butler) deletion syndrome: case report and review of the literature.

Authors:  Martilias Farrell; Maya Lichtenstein; Matthew K Harner; James J Crowley; Dawn M Filmyer; Gabriel Lázaro-Muñoz; Tyler E Dietterich; Lisa M Bruno; Rita A Shaughnessy; Tamara F Biondi; Stephan Burkholder; Jane Donmoyer; Jonathan S Berg; Jin Szatkiewicz; Patrick F Sullivan; Richard C Josiassen
Journal:  Transl Psychiatry       Date:  2020-01-28       Impact factor: 6.222

6.  Increasing the Clinical Psychiatric Knowledge Base About Pathogenic Copy Number Variation.

Authors:  Patrick F Sullivan; Michael J Owen
Journal:  Am J Psychiatry       Date:  2020-03-01       Impact factor: 18.112
  6 in total

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