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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jun 8, 2023. (Total: 217765Documents)
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Records 1 - 11 (of 11 Records)

Query Trace: Syndrome and CNTNAP2[original query]
CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy.
Molecular psychiatry 2008 Mar 13 (3): 261-6.
Friedman J I, Vrijenhoek T, Markx S, Janssen I M, van der Vliet W A, Faas B H W, Knoers N V, Cahn W, Kahn R S, Edelmann L, Davis K L, Silverman J M, Brunner H G, van Kessel A Geurts, Wijmenga C, Ophoff R A, Veltman J
Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene.
American journal of human genetics 2008 Jan 82 (1): 150-9.
Alarcón Maricela, Abrahams Brett S, Stone Jennifer L, Duvall Jacqueline A, Perederiy Julia V, Bomar Jamee M, Sebat Jonathan, Wigler Michael, Martin Christa L, Ledbetter David H, Nelson Stanley F, Cantor Rita M, Geschwind Daniel
Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes.
Molecular psychiatry 2010 Jun 15 (6): 637-46.
Elia J, Gai X, Xie H M, Perin J C, Geiger E, Glessner J T, D'arcy M, deBerardinis R, Frackelton E, Kim C, Lantieri F, Muganga B M, Wang L, Takeda T, Rappaport E F, Grant S F A, Berrettini W, Devoto M, Shaikh T H, Hakonarson H, White P
Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome.
European journal of human genetics : EJHG 2011 Feb 19 (2): 186-93.
Krumbiegel Mandy, Pasutto Francesca, Schlötzer-Schrehardt Ursula, Uebe Steffen, Zenkel Matthias, Mardin Christian Y, Weisschuh Nicole, Paoli Daniela, Gramer Eugen, Becker Christian, Ekici Arif B, Weber Bernhard H F, Nürnberg Peter, Kruse Friedrich E, Reis And
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders.
European journal of human genetics : EJHG 2013 Mar 21 (3): 310-6.
Boccuto Luigi, Lauri Maria, Sarasua Sara M, Skinner Cindy D, Buccella Daniela, Dwivedi Alka, Orteschi Daniela, Collins Julianne S, Zollino Marcella, Visconti Paola, Dupont Barb, Tiziano Danilo, Schroer Richard J, Neri Giovanni, Stevenson Roger E, Gurrieri Fiorella, Schwartz Charles
Evaluation of CNTNAP2 gene polymorphisms for exfoliation syndrome in Japanese.
Molecular vision 2012 18 1395-401.
Shimizu Ai, Takano Yoshimasa, Shi Dong, Yokokura Shunji, Yokoyama Yu, Zheng Xiaodong, Shiraishi Atsushi, Ohashi Yuichi, Nakazawa Toru, Fuse Nob
Evaluation of CNTNAP2 gene rs2107856 polymorphism in Turkish population with pseudoexfoliation syndrome.
International ophthalmology 2017 Dec .
Karaca Irmak, Yilmaz Suzan Guven, Palamar Melis, Onay Huseyin, Akgun Bilcag, Aytacoglu Burcu, Aykut Ayca, Ozkinay Feristah Fer
Comprehensive cross-disorder analyses of CNTNAP2 suggest it is unlikely to be a primary risk gene for psychiatric disorders.
PLoS genetics 2018 12 14 (12): e1007535.
Toma Claudio, Pierce Kerrie D, Shaw Alex D, Heath Anna, Mitchell Philip B, Schofield Peter R, Fullerton Janice
Multiple Gene Polymorphisms Associated with Exfoliation Syndrome in the Uygur Population.
Journal of ophthalmology 2019 2019 9687823.
Ma Yi-Nu, Xie Ting-Yu, Chen Xue-
Stage 2 Registered Report: Variation in neurodevelopmental outcomes in children with sex chromosome trisomies: testing the double hit hypothesis.
Wellcome open research 2021 6 3 85.
Newbury Dianne F, Simpson Nuala H, Thompson Paul A, Bishop Dorothy V
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
Human genetics 2023 5 .
Gianluca D'Onofrio, Andrea Accogli, Mariasavina Severino, Haluk Caliskan, Tomislav Kokotovi?, Antonela Blazekovic, Kristina Gotovac Jercic, Silvana Markovic, Tamara Zigman, Krnjak Goran, Nina Bariši?, Vlasta Duranovic, Ana Ban, Fran Borovecki, Danijela Petkovi? Ramadža, Ivo Bari?, Walid Fazeli, Peter Herkenrath, Carla Marini, Roberta Vittorini, Vykuntaraju Gowda, Arjan Bouman, Clarissa Rocca, Issam Azmi Alkhawaja, Bibi Nazia Murtaza, Malik Mujaddad Ur Rehman, Chadi Al Alam, Gisele Nader, Maria Margherita Mancardi, Thea Giacomini, Siddharth Srivastava, Javeria Raza Alvi, Hoda Tomoum, Sara Matricardi, Michele Iacomino, Antonella Riva, Marcello Scala, Francesca Madia, Angela Pistorio, Vincenzo Salpietro, Carlo Minetti, Jean-Baptiste Rivière, Myriam Srour, Stephanie Efthymiou, Reza Maroofian, Henry Houlden, Sonja Catherine Vernes, Federico Zara, Pasquale Striano, Vanja Na
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