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  1. Article ; Online: Substance use disorders: do males and females have differential vulnerability?

    Broome, Melissa V / Hurley, Robin A / Taber, Katherine H

    The Journal of neuropsychiatry and clinical neurosciences

    2010  Volume 22, Issue 3, Page(s) iv

    MeSH term(s) Brain/physiopathology ; Disease Susceptibility ; Female ; Humans ; Male ; Sex Characteristics ; Substance-Related Disorders/physiopathology
    Language English
    Publishing date 2010
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 1036340-3
    ISSN 1545-7222 ; 0895-0172
    ISSN (online) 1545-7222
    ISSN 0895-0172
    DOI 10.1176/appi.neuropsych.22.3.iv
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: The phenotype of recurrent 10q22q23 deletions and duplications.

    van Bon, Bregje W M / Balciuniene, Jorune / Fruhman, Gary / Nagamani, Sandesh Chakravarthy Sreenath / Broome, Diane L / Cameron, Elizabeth / Martinet, Danielle / Roulet, Eliane / Jacquemont, Sebastien / Beckmann, Jacques S / Irons, Mira / Potocki, Lorraine / Lee, Brendan / Cheung, Sau Wai / Patel, Ankita / Bellini, Melissa / Selicorni, Angelo / Ciccone, Roberto / Silengo, Margherita /
    Vetro, Annalisa / Knoers, Nine V / de Leeuw, Nicole / Pfundt, Rolph / Wolf, Barry / Jira, Petr / Aradhya, Swaroop / Stankiewicz, Pawel / Brunner, Han G / Zuffardi, Orsetta / Selleck, Scott B / Lupski, James R / de Vries, Bert B A

    European journal of human genetics : EJHG

    2011  Volume 19, Issue 4, Page(s) 400–408

    Abstract: The genomic architecture of the 10q22q23 region is characterised by two low-copy repeats (LCRs3 and 4), and deletions in this region appear to be rare. We report the clinical and molecular characterisation of eight novel deletions and six duplications ... ...

    Abstract The genomic architecture of the 10q22q23 region is characterised by two low-copy repeats (LCRs3 and 4), and deletions in this region appear to be rare. We report the clinical and molecular characterisation of eight novel deletions and six duplications within the 10q22.3q23.3 region. Five deletions and three duplications occur between LCRs3 and 4, whereas three deletions and three duplications have unique breakpoints. Most of the individuals with the LCR3-4 deletion had developmental delay, mainly affecting speech. In addition, macrocephaly, mild facial dysmorphisms, cerebellar anomalies, cardiac defects and congenital breast aplasia were observed. For congenital breast aplasia, the NRG3 gene, known to be involved in early mammary gland development in mice, is a putative candidate gene. For cardiac defects, BMPR1A and GRID1 are putative candidate genes because of their association with cardiac structure and function. Duplications between LCRs3 and 4 are associated with variable phenotypic penetrance. Probands had speech and/or motor delays and dysmorphisms including a broad forehead, deep-set eyes, upslanting palpebral fissures, a smooth philtrum and a thin upper lip. In conclusion, duplications between LCRs3 and 4 on 10q22.3q23.2 may lead to a distinct facial appearance and delays in speech and motor development. However, the phenotypic spectrum is broad, and duplications have also been found in healthy family members of a proband. Reciprocal deletions lead to speech and language delay, mild facial dysmorphisms and, in some individuals, to cerebellar, breast developmental and cardiac defects.
    MeSH term(s) Abnormalities, Multiple/genetics ; Abnormalities, Multiple/pathology ; Adaptor Proteins, Signal Transducing/genetics ; Animals ; Body Dysmorphic Disorders/genetics ; Body Dysmorphic Disorders/pathology ; Bone Morphogenetic Protein Receptors, Type I/genetics ; Child ; Chromosome Deletion ; Chromosomes, Human, Pair 10/genetics ; DNA Copy Number Variations ; Developmental Disabilities/genetics ; Developmental Disabilities/pathology ; Female ; Humans ; Language Development Disorders/genetics ; Male ; Megalencephaly/genetics ; Megalencephaly/pathology ; Mice ; Natural Cytotoxicity Triggering Receptor 3/genetics ; Phenotype ; Segmental Duplications, Genomic/genetics
    Chemical Substances Adaptor Proteins, Signal Transducing ; GRAP2 protein, human ; NCR3 protein, human ; Natural Cytotoxicity Triggering Receptor 3 ; BMPR1A protein, human (EC 2.7.11.30) ; Bone Morphogenetic Protein Receptors, Type I (EC 2.7.11.30)
    Language English
    Publishing date 2011-01-19
    Publishing country England
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1141470-4
    ISSN 1476-5438 ; 1018-4813
    ISSN (online) 1476-5438
    ISSN 1018-4813
    DOI 10.1038/ejhg.2010.211
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Accelerating Medicines Partnership® Schizophrenia (AMP® SCZ): Rationale and Study Design of the Largest Global Prospective Cohort Study of Clinical High Risk for Psychosis.

    Wannan, Cassandra M J / Nelson, Barnaby / Addington, Jean / Allott, Kelly / Anticevic, Alan / Arango, Celso / Baker, Justin T / Bearden, Carrie E / Billah, Tashrif / Bouix, Sylvain / Broome, Matthew R / Buccilli, Kate / Cadenhead, Kristin S / Calkins, Monica E / Cannon, Tyrone D / Cecci, Guillermo / Chen, Eric Yu Hai / Cho, Kang Ik K / Choi, Jimmy /
    Clark, Scott R / Coleman, Michael J / Conus, Philippe / Corcoran, Cheryl M / Cornblatt, Barbara A / Diaz-Caneja, Covadonga M / Dwyer, Dominic / Ebdrup, Bjørn H / Ellman, Lauren M / Fusar-Poli, Paolo / Galindo, Liliana / Gaspar, Pablo A / Gerber, Carla / Glenthøj, Louise Birkedal / Glynn, Robert / Harms, Michael P / Horton, Leslie E / Kahn, René S / Kambeitz, Joseph / Kambeitz-Ilankovic, Lana / Kane, John M / Kapur, Tina / Keshavan, Matcheri S / Kim, Sung-Wan / Koutsouleris, Nikolaos / Kubicki, Marek / Kwon, Jun Soo / Langbein, Kerstin / Lewandowski, Kathryn E / Light, Gregory A / Mamah, Daniel / Marcy, Patricia J / Mathalon, Daniel H / McGorry, Patrick D / Mittal, Vijay A / Nordentoft, Merete / Nunez, Angela / Pasternak, Ofer / Pearlson, Godfrey D / Perez, Jesus / Perkins, Diana O / Powers, Albert R / Roalf, David R / Sabb, Fred W / Schiffman, Jason / Shah, Jai L / Smesny, Stefan / Spark, Jessica / Stone, William S / Strauss, Gregory P / Tamayo, Zailyn / Torous, John / Upthegrove, Rachel / Vangel, Mark / Verma, Swapna / Wang, Jijun / Rossum, Inge Winter-van / Wolf, Daniel H / Wolff, Phillip / Wood, Stephen J / Yung, Alison R / Agurto, Carla / Alvarez-Jimenez, Mario / Amminger, Paul / Armando, Marco / Asgari-Targhi, Ameneh / Cahill, John / Carrión, Ricardo E / Castro, Eduardo / Cetin-Karayumak, Suheyla / Mallar Chakravarty, M / Cho, Youngsun T / Cotter, David / D'Alfonso, Simon / Ennis, Michaela / Fadnavis, Shreyas / Fonteneau, Clara / Gao, Caroline / Gupta, Tina / Gur, Raquel E / Gur, Ruben C / Hamilton, Holly K / Hoftman, Gil D / Jacobs, Grace R / Jarcho, Johanna / Ji, Jie Lisa / Kohler, Christian G / Lalousis, Paris Alexandros / Lavoie, Suzie / Lepage, Martin / Liebenthal, Einat / Mervis, Josh / Murty, Vishnu / Nicholas, Spero C / Ning, Lipeng / Penzel, Nora / Poldrack, Russell / Polosecki, Pablo / Pratt, Danielle N / Rabin, Rachel / Rahimi Eichi, Habiballah / Rathi, Yogesh / Reichenberg, Avraham / Reinen, Jenna / Rogers, Jack / Ruiz-Yu, Bernalyn / Scott, Isabelle / Seitz-Holland, Johanna / Srihari, Vinod H / Srivastava, Agrima / Thompson, Andrew / Turetsky, Bruce I / Walsh, Barbara C / Whitford, Thomas / Wigman, Johanna T W / Yao, Beier / Yuen, Hok Pan / Ahmed, Uzair / Byun, Andrew Jin Soo / Chung, Yoonho / Do, Kim / Hendricks, Larry / Huynh, Kevin / Jeffries, Clark / Lane, Erlend / Langholm, Carsten / Lin, Eric / Mantua, Valentina / Santorelli, Gennarina / Ruparel, Kosha / Zoupou, Eirini / Adasme, Tatiana / Addamo, Lauren / Adery, Laura / Ali, Munaza / Auther, Andrea / Aversa, Samantha / Baek, Seon-Hwa / Bates, Kelly / Bathery, Alyssa / Bayer, Johanna M M / Beedham, Rebecca / Bilgrami, Zarina / Birch, Sonia / Bonoldi, Ilaria / Borders, Owen / Borgatti, Renato / Brown, Lisa / Bruna, Alejandro / Carrington, Holly / Castillo-Passi, Rolando I / Chen, Justine / Cheng, Nicholas / Ching, Ann Ee / Clifford, Chloe / Colton, Beau-Luke / Contreras, Pamela / Corral, Sebastián / Damiani, Stefano / Done, Monica / Estradé, Andrés / Etuka, Brandon Asika / Formica, Melanie / Furlan, Rachel / Geljic, Mia / Germano, Carmela / Getachew, Ruth / Goncalves, Mathias / Haidar, Anastasia / Hartmann, Jessica / Jo, Anna / John, Omar / Kerins, Sarah / Kerr, Melissa / Kesselring, Irena / Kim, Honey / Kim, Nicholas / Kinney, Kyle / Krcmar, Marija / Kotler, Elana / Lafanechere, Melanie / Lee, Clarice / Llerena, Joshua / Markiewicz, Christopher / Matnejl, Priya / Maturana, Alejandro / Mavambu, Aissata / Mayol-Troncoso, Rocío / McDonnell, Amelia / McGowan, Alessia / McLaughlin, Danielle / McIlhenny, Rebecca / McQueen, Brittany / Mebrahtu, Yohannes / Mensi, Martina / Hui, Christy Lai Ming / Suen, Yi Nam / Wong, Stephanie Ming Yin / Morrell, Neal / Omar, Mariam / Partridge, Alice / Phassouliotis, Christina / Pichiecchio, Anna / Politi, Pierluigi / Porter, Christian / Provenzani, Umberto / Prunier, Nicholas / Raj, Jasmine / Ray, Susan / Rayner, Victoria / Reyes, Manuel / Reynolds, Kate / Rush, Sage / Salinas, Cesar / Shetty, Jashmina / Snowball, Callum / Tod, Sophie / Turra-Fariña, Gabriel / Valle, Daniela / Veale, Simone / Whitson, Sarah / Wickham, Alana / Youn, Sarah / Zamorano, Francisco / Zavaglia, Elissa / Zinberg, Jamie / Woods, Scott W / Shenton, Martha E

    Schizophrenia bulletin

    2024  Volume 50, Issue 3, Page(s) 496–512

    Abstract: This article describes the rationale, aims, and methodology of the Accelerating Medicines Partnership® Schizophrenia (AMP® SCZ). This is the largest international collaboration to date that will develop algorithms to predict trajectories and outcomes of ... ...

    Abstract This article describes the rationale, aims, and methodology of the Accelerating Medicines Partnership® Schizophrenia (AMP® SCZ). This is the largest international collaboration to date that will develop algorithms to predict trajectories and outcomes of individuals at clinical high risk (CHR) for psychosis and to advance the development and use of novel pharmacological interventions for CHR individuals. We present a description of the participating research networks and the data processing analysis and coordination center, their processes for data harmonization across 43 sites from 13 participating countries (recruitment across North America, Australia, Europe, Asia, and South America), data flow and quality assessment processes, data analyses, and the transfer of data to the National Institute of Mental Health (NIMH) Data Archive (NDA) for use by the research community. In an expected sample of approximately 2000 CHR individuals and 640 matched healthy controls, AMP SCZ will collect clinical, environmental, and cognitive data along with multimodal biomarkers, including neuroimaging, electrophysiology, fluid biospecimens, speech and facial expression samples, novel measures derived from digital health technologies including smartphone-based daily surveys, and passive sensing as well as actigraphy. The study will investigate a range of clinical outcomes over a 2-year period, including transition to psychosis, remission or persistence of CHR status, attenuated positive symptoms, persistent negative symptoms, mood and anxiety symptoms, and psychosocial functioning. The global reach of AMP SCZ and its harmonized innovative methods promise to catalyze the development of new treatments to address critical unmet clinical and public health needs in CHR individuals.
    MeSH term(s) Humans ; Psychotic Disorders ; Schizophrenia ; Prospective Studies ; Adult ; Prodromal Symptoms ; Young Adult ; International Cooperation ; Adolescent ; Research Design/standards ; Male ; Female
    Language English
    Publishing date 2024-03-07
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
    ZDB-ID 439173-1
    ISSN 1745-1701 ; 0586-7614
    ISSN (online) 1745-1701
    ISSN 0586-7614
    DOI 10.1093/schbul/sbae011
    Database MEDical Literature Analysis and Retrieval System OnLINE

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