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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 6 (of 6 Records)

Query Trace: Intellectual Disability and GRIN2B[original query]
Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia.
Translational psychiatry 2012 7 1 (11): e55.
Tarabeux J, Kebir O, Gauthier J, Hamdan F F, Xiong L, Piton A, Spiegelman D, Henrion É, Millet B, , Fathalli F, Joober R, Rapoport J L, DeLisi L E, Fombonne É, Mottron L, Forget-Dubois N, Boivin M, Michaud J L, Drapeau P, Lafrenière R G, Rouleau G A, Krebs M
Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene.
Behavioral and brain functions : BBF 2013 9 (1): 20.
Freunscht Inga, Popp Bernt, Blank Rainer, Endele Sabine, Moog Ute, Petri Holger, Prott Eva-Christina, Reis Andre, Rübo Jochen, Zabel Bernhard, Zenker Martin, Hebebrand Johannes, Wieczorek Dagm
De novo mutations in moderate or severe intellectual disability.
PLoS genetics 2014 Oct 10 (10): e1004772.
Hamdan Fadi F, Srour Myriam, Capo-Chichi Jose-Mario, Daoud Hussein, Nassif Christina, Patry Lysanne, Massicotte Christine, Ambalavanan Amirthagowri, Spiegelman Dan, Diallo Ousmane, Henrion Edouard, Dionne-Laporte Alexandre, Fougerat Anne, Pshezhetsky Alexey V, Venkateswaran Sunita, Rouleau Guy A, Michaud Jacques
Genetic convergence of developmental and epileptic encephalopathies and intellectual disability.
Developmental medicine and child neurology 2021 7 63 (12): 1441-1447.
Carvill Gemma L, Jansen Sandra, Lacroix Amy, Zemel Matthew, Mehaffey Michele, De Vries Petra, Brunner Han G, Scheffer Ingrid E, De Vries Bert B A, Vissers Lisenka E L M, Mefford Heather
A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort.
European journal of human genetics : EJHG 2022 11 .
Garret Philippine, Chevarin Martin, Vitobello Antonio, Verdez Simon, Fournier Cyril, Verloes Alain, Tisserant Emilie, Vabres Pierre, Prevel Orlane, Philippe Christophe, Denommé-Pichon Anne-Sophie, Bruel Ange-Line, Mau-Them Frédéric Tran, Safraou Hana, Boughalem Aïcha, Costa Jean-Marc, Trost Detlef, Thauvin-Robinet Christel, Faivre Laurence, Duffourd Yann
Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a Cohort of Patients with Intellectual Disability.
Archives of Iranian medicine 2023 8 25 (12): 788-797.
Naeim Ehtesham, Meysam Mosallaei, Maryam Beheshtian, Shahrouz Khoshbakht, Mahsa Fadaee, Raheleh Vazehan, Mehrshid Faraji Zonooz, Parvaneh Karimzadeh, Kimia Kahrizi, Hossein Najmaba
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