HuGE Literature Finder
Records 1-30
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Reciprocal White Matter Changes Associated With Copy Number Variation at 15q11.2 BP1-BP2: A Diffusion Tensor Imaging Study.
Biological psychiatry 2019 Apr 85 (7): 563-572. Silva Ana I, Ulfarsson Magnus O, Stefansson Hreinn, Gustafsson Omar, Walters G Bragi, Linden David E J, Wilkinson Lawrence S, Drakesmith Mark, Owen Michael J, Hall Jeremy, Stefansson Ka |
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Clinicopathological analysis of ATRX, DAXX and NOTCH Receptor Expression in Angiosarcomas.
Histopathology 2017 Aug . Panse Gauri, Chrisinger John S A, Leung Cheuk H, Ingram Davis R, Khan Samia, Wani Khalida, Lin Heather, Lazar Alexander J, Wang Wei-Li |
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Mutation intolerant genes and targets of FMRP are enriched for nonsynonymous alleles in schizophrenia.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2017 Jul . Leonenko Ganna, Richards Alexander L, Walters James T, Pocklington Andrew, Chambert Kimberly, Al Eissa Mariam M, Sharp Sally I, O'Brien Niamh L, Curtis David, Bass Nicholas J, McQuillin Andrew, Hultman Christina, Moran Jennifer L, McCarroll Steven A, Sklar Pamela, Neale Benjamin M, Holmans Peter A, Owen Michael J, Sullivan Patrick F, O'Donovan Michael |
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Exome Sequencing of Familial Bipolar Disorder.
JAMA psychiatry 2016 Apr . Goes Fernando S, Pirooznia Mehdi, Parla Jennifer S, Kramer Melissa, Ghiban Elena, Mavruk Senem, Chen Yun-Ching, Monson Eric T, Willour Virginia L, Karchin Rachel, Flickinger Matthew, Locke Adam E, Levy Shawn E, Scott Laura J, Boehnke Michael, Stahl Eli, Moran Jennifer L, Hultman Christina M, Landén Mikael, Purcell Shaun M, Sklar Pamela, Zandi Peter P, McCombie W Richard, Potash James |
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ATRX immunostaining predicts IDH and H3F3A status in gliomas.
Acta neuropathologica communications 2016 4 (1): 60. Ebrahimi Azadeh, Skardelly Marco, Bonzheim Irina, Ott Ines, Mühleisen Helmut, Eckert Franziska, Tabatabai Ghazaleh, Schittenhelm Je |
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CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens.
Scientific reports 2016 6 25954. Wang Binbin, Ji Taoyun, Zhou Xueya, Wang Jing, Wang Xi, Wang Jingmin, Zhu Dingliang, Zhang Xuejun, Sham Pak Chung, Zhang Xuegong, Ma Xu, Jiang Yu |
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Low Levels of HDL in Fragile X Syndrome Patients.
Lipids 2015 Dec . Lisik Ma?gorzata Z, Gutmajster Ewa, Siero? Aleksander |
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Diminished ovarian reserve is not observed in infertility patients with high normal CGG repeats on the fragile X mental retardation 1 (FMR1) gene.
Human reproduction (Oxford, England) 2015 Sep . Schufreider Ann, McQueen Dana B, Lee Sang Mee, Allon Rachel, Uhler Meike L, Davie Jocelyn, Feinberg Eve |
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Distribution of fragile X mental retardation 1 CGG repeat and flanking haplotypes in a large Chinese population.
Molecular genetics & genomic medicine 2015 May 3 (3): 172-81. Huang Wen, Xia Qiuping, Luo Shiyu, He Hua, Zhu Ting, Du Qian, Duan Ranh |
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Rare structural genetic variation in human prion diseases.
Neurobiology of aging 2015 May 36 (5): 2004.e1-8. Lukic Ana, Uphill James, Brown Craig A, Beck John, Poulter Mark, Campbell Tracy, Adamson Gary, Hummerich Holger, Whitfield Jerome, Ponto Claudia, Zerr Inga, Lloyd Sarah E, Collinge John, Mead Sim |
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Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees.
PloS one 2015 10 (9): e0138072. Bakhchane Amina, Charif Majida, Salime Sara, Boulouiz Redouane, Nahili Halima, Roky Rachida, Lenaers Guy, Barakat Abdelham |
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Copy number variation in schizophrenia in Sweden.
Molecular psychiatry 2014 Jul 19 (7): 762-73. Szatkiewicz J P, O'Dushlaine C, Chen G, Chambert K, Moran J L, Neale B M, Fromer M, Ruderfer D, Akterin S, Bergen S E, Kähler A, Magnusson P K E, Kim Y, Crowley J J, Rees E, Kirov G, O'Donovan M C, Owen M J, Walters J, Scolnick E, Sklar P, Purcell S, Hultman C M, McCarroll S A, Sullivan P |
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Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.
Brain : a journal of neurology 2014 Jul 137 (Pt 7): 1907-20. Pensato Viviana, Castellotti Barbara, Gellera Cinzia, Pareyson Davide, Ciano Claudia, Nanetti Lorenzo, Salsano Ettore, Piscosquito Giuseppe, Sarto Elisa, Eoli Marica, Moroni Isabella, Soliveri Paola, Lamperti Elena, Chiapparini Luisa, Di Bella Daniela, Taroni Franco, Mariotti Cateri |
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The significance of fragile X mental retardation gene 1 CGG repeat sizes in the normal and intermediate range in women with primary ovarian insufficiency.
Human reproduction (Oxford, England) 2014 Jul 29 (7): 1585-93. Voorhuis M, Onland-Moret N C, Janse F, Ploos van Amstel H K, Goverde A J, Lambalk C B, Laven J S E, van der Schouw Y T, Broekmans F J M, Fauser B C J M, |
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Association between ?2/3/4, promoter polymorphism (-491A/T, -427T/C, and -219T/G) at the apolipoprotein E gene, and mental retardation in children from an iodine deficiency area, China.
BioMed research international 2014 2014 236702. Li Jun, Zhang Fuchang, Wang Yunliang, Wang Yan, Qin Wei, Xing Qinghe, Qian Xueqing, Guo Tingwei, Gao Xiaocai, He Lin, Gao Jianj |
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Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts, genetically links PLCL1 to speech language development and IL5-IL13 to Eosinophilic Esophagitis.
Frontiers in genetics 2014 5 401. Namjou Bahram, Marsolo Keith, Caroll Robert J, Denny Joshua C, Ritchie Marylyn D, Verma Shefali S, Lingren Todd, Porollo Aleksey, Cobb Beth L, Perry Cassandra, Kottyan Leah C, Rothenberg Marc E, Thompson Susan D, Holm Ingrid A, Kohane Isaac S, Harley John |
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Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Lancet (London, England) 2012 Nov 380 (9854): 1674-82. Rauch Anita, Wieczorek Dagmar, Graf Elisabeth, Wieland Thomas, Endele Sabine, Schwarzmayr Thomas, Albrecht Beate, Bartholdi Deborah, Beygo Jasmin, Di Donato Nataliya, Dufke Andreas, Cremer Kirsten, Hempel Maja, Horn Denise, Hoyer Juliane, Joset Pascal, Röpke Albrecht, Moog Ute, Riess Angelika, Thiel Christian T, Tzschach Andreas, Wiesener Antje, Wohlleber Eva, Zweier Christiane, Ekici Arif B, Zink Alexander M, Rump Andreas, Meisinger Christa, Grallert Harald, Sticht Heinrich, Schenck Annette, Engels Hartmut, Rappold Gudrun, Schröck Evelin, Wieacker Peter, Riess Olaf, Meitinger Thomas, Reis André, Strom Tim |
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Trisomic pregnancy and intermediate CGG repeat length at the FMR1 locus.
Human reproduction (Oxford, England) 2012 Jul 27 (7): 2224-32. Kline J, Kinney A, Brown S, Levin B, Oppenheimer K, Warburton |
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Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization.
Archives of neurology 2012 Mar 69 (3): 322-30. Striano Pasquale, Coppola Antonietta, Paravidino Roberta, Malacarne Michela, Gimelli Stefania, Robbiano Angela, Traverso Monica, Pezzella Marianna, Belcastro Vincenzo, Bianchi Amedeo, Elia Maurizio, Falace Antonio, Gazzerro Elisabetta, Ferlazzo Edoardo, Freri Elena, Galasso Roberta, Gobbi Giuseppe, Molinatto Cristina, Cavani Simona, Zuffardi Orsetta, Striano Salvatore, Ferrero Giovanni Battista, Silengo Margherita, Cavaliere Maria Luigia, Benelli Matteo, Magi Alberto, Piccione Maria, Dagna Bricarelli Franca, Coviello Domenico A, Fichera Marco, Minetti Carlo, Zara Federi |
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Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma.
Nature 2012 Feb 482 (7384): 226-31. Schwartzentruber Jeremy, Korshunov Andrey, Liu Xiao-Yang, Jones David T W, Pfaff Elke, Jacob Karine, Sturm Dominik, Fontebasso Adam M, Quang Dong-Anh Khuong, Tönjes Martje, Hovestadt Volker, Albrecht Steffen, Kool Marcel, Nantel Andre, Konermann Carolin, Lindroth Anders, Jäger Natalie, Rausch Tobias, Ryzhova Marina, Korbel Jan O, Hielscher Thomas, Hauser Peter, Garami Miklos, Klekner Almos, Bognar Laszlo, Ebinger Martin, Schuhmann Martin U, Scheurlen Wolfram, Pekrun Arnulf, Frühwald Michael C, Roggendorf Wolfgang, Kramm Christoph, Dürken Matthias, Atkinson Jeffrey, Lepage Pierre, Montpetit Alexandre, Zakrzewska Magdalena, Zakrzewski Krzystof, Liberski Pawel P, Dong Zhifeng, Siegel Peter, Kulozik Andreas E, Zapatka Marc, Guha Abhijit, Malkin David, Felsberg Jörg, Reifenberger Guido, von Deimling Andreas, Ichimura Koichi, Collins V Peter, Witt Hendrik, Milde Till, Witt Olaf, Zhang Cindy, Castelo-Branco Pedro, Lichter Peter, Faury Damien, Tabori Uri, Plass Christoph, Majewski Jacek, Pfister Stefan M, Jabado Na |
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Genotype and cognitive phenotype of patients with tuberous sclerosis complex.
European journal of human genetics : EJHG 2011 Dec . van Eeghen AM, Black ME, Pulsifer MB, Kwiatkowski DJ, Thiele EA |
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Polymorphisms in the DLG3 gene is not associated with non-syndromic mental retardation in the Chinese Han population of Qin-Ba mountain.
Cellular and molecular neurobiology 2011 Jul 31 (5): 695-700. Han Ning, Shi Zhangyan, Zhang Kejin, Gao Xiaocai, Zheng Zijian, Gong Pingyuan, Guo Yale, Huang Shaoping, Zhang Fucha |
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Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations.
Investigative ophthalmology & visual science 2011 Jan 52 (1): 324-33. D'haene Barbara, Meire Françoise, Claerhout Ilse, Kroes Hester Y, Plomp Astrid, Arens Yvonne H, de Ravel Thomy, Casteels Ingele, De Jaegere Sarah, Hooghe Sally, Wuyts Wim, van den Ende Jenneke, Roulez Françoise, Veenstra-Knol Hermine E, Oldenburg Rogier A, Giltay Jacques, Verheij Johanna B G M, de Faber Jan-Tjeerd, Menten Björn, De Paepe Anne, Kestelyn Philippe, Leroy Bart P, De Baere Elfri |
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Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13).
PloS one 2011 6 (3): e17811. Figueroa Karla P, Waters Michael F, Garibyan Vartan, Bird Thomas D, Gomez Christopher M, Ranum Laura P W, Minassian Natali A, Papazian Diane M, Pulst Stefan |
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Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions.
Journal of medical genetics 2010 Sep 47 (9): 623-30. Mautner V-F, Kluwe L, Friedrich R E, Roehl A C, Bammert S, Högel J, Spöri H, Cooper D N, Kehrer-Sawatzki |
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Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Brain : a journal of neurology 2010 Mar 133 (Pt 3): 655-70. Leen Wilhelmina G, Klepper Joerg, Verbeek Marcel M, Leferink Maike, Hofste Tom, van Engelen Baziel G, Wevers Ron A, Arthur Todd, Bahi-Buisson Nadia, Ballhausen Diana, Bekhof Jolita, van Bogaert Patrick, Carrilho Inês, Chabrol Brigitte, Champion Michael P, Coldwell James, Clayton Peter, Donner Elizabeth, Evangeliou Athanasios, Ebinger Friedrich, Farrell Kevin, Forsyth Rob J, de Goede Christian G E L, Gross Stephanie, Grunewald Stephanie, Holthausen Hans, Jayawant Sandeep, Lachlan Katherine, Laugel Vincent, Leppig Kathy, Lim Ming J, Mancini Grazia, Marina Adela Della, Martorell Loreto, McMenamin Joe, Meuwissen Marije E C, Mundy Helen, Nilsson Nils O, Panzer Axel, Poll-The Bwee T, Rauscher Christian, Rouselle Christophe M R, Sandvig Inger, Scheffner Thomas, Sheridan Eamonn, Simpson Neil, Sykora Parol, Tomlinson Richard, Trounce John, Webb David, Weschke Bernhard, Scheffer Hans, Willemsen Michél |
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Large, rare chromosomal deletions associated with severe early-onset obesity.
Nature 2010 Feb 463 (7281): 666-70. Bochukova Elena G, Huang Ni, Keogh Julia, Henning Elana, Purmann Carolin, Blaszczyk Kasia, Saeed Sadia, Hamilton-Shield Julian, Clayton-Smith Jill, O'Rahilly Stephen, Hurles Matthew E, Farooqi I Sad |
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Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression.
Human molecular genetics 2009 Oct 18 (20): 3779-94. Daoud Fatma, Angeard Nathalie, Demerre Bénédicte, Martie Itxaso, Benyaou Rabah, Leturcq France, Cossée Mireille, Deburgrave Nathalie, Saillour Yoann, Tuffery Sylvie, Urtizberea Andoni, Toutain Annick, Echenne Bernard, Frischman Martine, Mayer Michèle, Desguerre Isabelle, Estournet Brigitte, Réveillère Christian, Penisson-Besnier , Cuisset Jean Marie, Kaplan Jean Claude, Héron Delphine, Rivier François, Chelly Jam |
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[Correlation between MECP2 genotype and phenotype in Chinese patients with Rett syndrome].
Zhonghua er ke za zhi. Chinese journal of pediatrics 2009 Feb 47 (2): 124-8. Li Mei-rong, Pan Hong, Bao Xin-hua, Zhu Xing-wang, Cao Guang-na, Zhang Yu-zhi, Wu Xi- |
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Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series.
European journal of medical genetics 0 53 (2): 66-75. Jaillard Sylvie, Drunat Séverine, Bendavid Claude, Aboura Azzedine, Etcheverry Amandine, Journel Hubert, Delahaye Andrée, Pasquier Laurent, Bonneau Dominique, Toutain Annick, Burglen Lydie, Guichet Agnès, Pipiras Eva, Gilbert-Dussardier Brigitte, Benzacken Brigitte, Martin-Coignard Dominique, Henry Catherine, David Albert, Lucas Josette, Mosser Jean, David Véronique, Odent Sylvie, Verloes Alain, Dubourg Christè |
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- Page last updated:Jun 16, 2021
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