{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T12:33:35Z","timestamp":1791290015244,"version":"4.3.0"},"reference-count":39,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2004,4,16]],"date-time":"2004-04-16T00:00:00Z","timestamp":1082073600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genet"],"DOI":"10.1186\/1471-2350-5-10","type":"journal-article","created":{"date-parts":[[2004,4,20]],"date-time":"2004-04-20T06:22:21Z","timestamp":1082442141000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":66,"title":["A case of autism with an interstitial deletion on 4q leading to hemizygosity for genes encoding for glutamine and glycine neurotransmitter receptor sub-units (AMPA 2, GLRA3, GLRB) and neuropeptide receptors NPY1R, NPY5R"],"prefix":"10.1186","volume":"5","author":[{"given":"Subhadra","family":"Ramanathan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abigail","family":"Woodroffe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pamela L","family":"Flodman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lee Z","family":"Mays","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mona","family":"Hanouni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte B","family":"Modahl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robin","family":"Steinberg-Epstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maureen E","family":"Bocian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M Anne","family":"Spence","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moyra","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2004,4,16]]},"reference":[{"key":"45_CR1","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1017\/S0033291700028099","volume":"25","author":"A Bailey","year":"1995","unstructured":"Bailey A, Le Couteur A, Gottesman I, Bolton P, Simonoff E, Yuzda E, Rutter M: Autism as a strongly genetic disorder: evidence from a British twin study. Psychol Med. 1995, 25: 63-77.","journal-title":"Psychol Med"},{"key":"45_CR2","doi-asserted-by":"publisher","first-page":"315","DOI":"10.1007\/BF01531501","volume":"15","author":"TD Baird","year":"1985","unstructured":"Baird TD, August GJ: Familial heterogeneity in infantile autism. J Autism Dev Disord. 1985, 15: 315-321.","journal-title":"J Autism Dev Disord"},{"key":"45_CR3","doi-asserted-by":"publisher","first-page":"877","DOI":"10.1111\/j.1469-7610.1994.tb02300.x","volume":"35","author":"P Bolton","year":"1994","unstructured":"Bolton P, Macdonald H, Pickles A, Rios P, Goode S, Crowson M, Bailey A, Rutter M: A case-control family history study of autism. J Child Psychol Psychiatry. 1994, 35: 877-900.","journal-title":"J Child Psychol Psychiatry"},{"key":"45_CR4","volume-title":"Diagnostic and Statistical Manual of Mental Disorders","author":"APA","year":"1994","unstructured":"APA: Diagnostic and Statistical Manual of Mental Disorders. 1994, Washington D.C., American Psychiatric Association, 3rd","edition":"3rd"},{"key":"45_CR5","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1023\/A:1005592401947","volume":"30","author":"C Lord","year":"2000","unstructured":"Lord C, Risi S, Lambrecht L, Cook E. H., Jr., Leventhal BL, DiLavore PC, Pickles A, Rutter M: The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord. 2000, 30: 205-223. 10.1023\/A:1005592401947.","journal-title":"J Autism Dev Disord"},{"key":"45_CR6","doi-asserted-by":"publisher","first-page":"659","DOI":"10.1007\/BF02172145","volume":"24","author":"C Lord","year":"1994","unstructured":"Lord C, Rutter M, Le Couteur A: Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord. 1994, 24: 659-685.","journal-title":"J Autism Dev Disord"},{"key":"45_CR7","volume-title":"The Stanford-Binet Intelligence Scale: Guide for Administering and Scoring","author":"Robert Ladd Thorndike","year":"1986","unstructured":"Thorndike Robert Ladd, Hagen EP, Sattler JM: The Stanford-Binet Intelligence Scale: Guide for Administering and Scoring. 1986, Chicago, The Riverside Publishing Company, 4th","edition":"4th"},{"key":"45_CR8","volume-title":"Peabody Picture Vocabulary Test","author":"LM Dunn","year":"1997","unstructured":"Dunn LM, Dunn L: Peabody Picture Vocabulary Test. 1997, Circle Pines, American Guidance Service, 3rd","edition":"3rd"},{"key":"45_CR9","unstructured":"National Center for Biotechnology Information (NCBI) Website. [http:\/\/www.ncbi.nlm.nih.gov]"},{"key":"45_CR10","unstructured":"Marshfield Clinic. [http:\/\/www.marshfieldclinic.org\/genetics]"},{"key":"45_CR11","unstructured":"Centre d'Etude du Polymorphisme Humain (CEPH) Database. [http:\/\/www.cephb.fr]"},{"key":"45_CR12","unstructured":"National Center for Biotechnology Information (NCBI) BLAST. [http:\/\/www.ncbi.nlm.nih.gov\/BLAST]"},{"key":"45_CR13","doi-asserted-by":"publisher","DOI":"10.1002\/3527600736","volume-title":"Neurotransmitters and Neuromodulators: Handbook of Receptors and Biological Effects","author":"O von Bohlen und Halbach","year":"2002","unstructured":"von Bohlen und Halbach O, Dermietzel R: Neurotransmitters and Neuromodulators: Handbook of Receptors and Biological Effects. 2002, Weinheim, Wiley-VCH"},{"key":"45_CR14","doi-asserted-by":"publisher","first-page":"126","DOI":"10.1016\/S0166-2236(96)80018-X","volume":"19","author":"WC Abraham","year":"1996","unstructured":"Abraham WC, Bear MF: Metaplasticity: the plasticity of synaptic plasticity. Trends Neurosci. 1996, 19: 126-130. 10.1016\/S0166-2236(96)80018-X.","journal-title":"Trends Neurosci"},{"key":"45_CR15","doi-asserted-by":"publisher","first-page":"190","DOI":"10.1016\/S0006-8993(00)02951-6","volume":"886","author":"H Tanaka","year":"2000","unstructured":"Tanaka H, Grooms SY, Bennett MV, Zukin RS: The AMPAR subunit GluR2: still front and center-stage. Brain Res. 2000, 886: 190-207. 10.1016\/S0006-8993(00)02951-6.","journal-title":"Brain Res"},{"key":"45_CR16","doi-asserted-by":"publisher","first-page":"841","DOI":"10.1016\/S0896-6273(01)00520-7","volume":"32","author":"M Mansour","year":"2001","unstructured":"Mansour M, Nagarajan N, Nehring RB, Clements JD, Rosenmund C: Heteromeric AMPA receptors assemble with a preferred subunit stoichiometry and spatial arrangement. Neuron. 2001, 32: 841-853. 10.1016\/S0896-6273(01)00520-7.","journal-title":"Neuron"},{"key":"45_CR17","doi-asserted-by":"publisher","first-page":"277","DOI":"10.1007\/BF02737065","volume":"7","author":"CR Breese","year":"1996","unstructured":"Breese CR, Logel J, Adams C, Leonard SS: Regional gene expression of the glutamate receptor subtypes GluR1, GluR2, and GluR3 in human postmortem brain. J Mol Neurosci. 1996, 7: 277-289.","journal-title":"J Mol Neurosci"},{"key":"45_CR18","doi-asserted-by":"crossref","first-page":"9367","DOI":"10.1523\/JNEUROSCI.23-28-09367.2003","volume":"23","author":"N Sans","year":"2003","unstructured":"Sans N, Vissel B, Petralia RS, Wang YX, Chang K, Royle GA, Wang CY, O'Gorman S, Heinemann SF, Wenthold RJ: Aberrant formation of glutamate receptor complexes in hippocampal neurons of mice lacking the GluR2 AMPA receptor subunit. J Neurosci. 2003, 23: 9367-9373.","journal-title":"J Neurosci"},{"key":"45_CR19","doi-asserted-by":"publisher","first-page":"117","DOI":"10.1007\/s004010050401","volume":"91","author":"GV Raymond","year":"1996","unstructured":"Raymond GV, Bauman ML, Kemper TL: Hippocampus in autism: a Golgi analysis. Acta Neuropathol (Berl). 1996, 91: 117-119. 10.1007\/s004010050401.","journal-title":"Acta Neuropathol (Berl)"},{"key":"45_CR20","doi-asserted-by":"publisher","first-page":"112","DOI":"10.1002\/0470869380.ch8","volume":"251","author":"ML Bauman","year":"2003","unstructured":"Bauman ML, Kemper TL: The neuropathology of the autism spectrum disorders: what have we learned?. Novartis Found Symp. 2003, 251: 112-22; discussion 122-8, 281-97.","journal-title":"Novartis Found Symp"},{"key":"45_CR21","doi-asserted-by":"publisher","first-page":"1618","DOI":"10.1212\/WNL.57.9.1618","volume":"57","author":"AE Purcell","year":"2001","unstructured":"Purcell AE, Jeon OH, Zimmerman AW, Blue ME, Pevsner J: Postmortem brain abnormalities of the glutamate neurotransmitter system in autism. Neurology. 2001, 57: 1618-1628.","journal-title":"Neurology"},{"key":"45_CR22","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1007\/s007020050076","volume":"105","author":"ML Carlsson","year":"1998","unstructured":"Carlsson ML: Hypothesis: is infantile autism a hypoglutamatergic disorder? Relevance of glutamate - serotonin interactions for pharmacotherapy. J Neural Transm. 1998, 105: 525-535. 10.1007\/s007020050076.","journal-title":"J Neural Transm"},{"key":"45_CR23","doi-asserted-by":"publisher","first-page":"302","DOI":"10.1038\/sj.mp.4000979","volume":"7","author":"S Jamain","year":"2002","unstructured":"Jamain S, Betancur C, Quach H, Philippe A, Fellous M, Giros B, Gillberg C, Leboyer M, Bourgeron T: Linkage and association of the glutamate receptor 6 gene with autism. Mol Psychiatry. 2002, 7: 302-310. 10.1038\/sj.mp.4000979.","journal-title":"Mol Psychiatry"},{"key":"45_CR24","doi-asserted-by":"publisher","first-page":"876","DOI":"10.1074\/jbc.M307684200","volume":"279","author":"Z Chen","year":"2004","unstructured":"Chen Z, Dillon GH, Huang R: Molecular determinants of proton modulation of glycine receptors. J Biol Chem. 2004, 279: 876-883. 10.1074\/jbc.M307684200.","journal-title":"J Biol Chem"},{"key":"45_CR25","doi-asserted-by":"publisher","first-page":"715","DOI":"10.1016\/j.neuroscience.2003.10.014","volume":"123","author":"A Okabe","year":"2004","unstructured":"Okabe A, Kilb W, Shimizu-Okabe C, Hanganu IL, Fukuda A, Luhmann HJ: Homogenous glycine receptor expression in cortical plate neurons and cajal-retzius cells of neonatal rat cerebral cortex. Neuroscience. 2004, 123: 715-724. 10.1016\/j.neuroscience.2003.10.014.","journal-title":"Neuroscience"},{"key":"45_CR26","doi-asserted-by":"publisher","first-page":"505","DOI":"10.1113\/jphysiol.1995.sp020682","volume":"484 ( Pt 2)","author":"JF Paton","year":"1995","unstructured":"Paton JF, Richter DW: Role of fast inhibitory synaptic mechanisms in respiratory rhythm generation in the maturing mouse. J Physiol. 1995, 484 ( Pt 2): 505-521.","journal-title":"J Physiol"},{"key":"45_CR27","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1152\/jn.1996.75.2.640","volume":"75","author":"E Bracci","year":"1996","unstructured":"Bracci E, Ballerini L, Nistri A: Spontaneous rhythmic bursts induced by pharmacological block of inhibition in lumbar motoneurons of the neonatal rat spinal cord. J Neurophysiol. 1996, 75: 640-647.","journal-title":"J Neurophysiol"},{"key":"45_CR28","doi-asserted-by":"publisher","first-page":"172","DOI":"10.1016\/S0303-8467(97)00022-X","volume":"99","author":"MN Vergouwe","year":"1997","unstructured":"Vergouwe MN, Tijssen MA, Shiang R, van Dijk JG, al Shahwan S, Ophoff RA, Frants RR: Hyperekplexia-like syndromes without mutations in the GLRA1 gene. Clin Neurol Neurosurg. 1997, 99: 172-178. 10.1016\/S0303-8467(97)00022-X.","journal-title":"Clin Neurol Neurosurg"},{"key":"45_CR29","doi-asserted-by":"publisher","first-page":"1030","DOI":"10.1038\/4151030a","volume":"415","author":"H van Praag","year":"2002","unstructured":"van Praag H, Schinder AF, Christie BR, Toni N, Palmer TD, Gage FH: Functional neurogenesis in the adult hippocampus. Nature. 2002, 415: 1030-1034. 10.1038\/4151030a.","journal-title":"Nature"},{"key":"45_CR30","doi-asserted-by":"publisher","first-page":"548","DOI":"10.1126\/science.286.5439.548","volume":"286","author":"E Gould","year":"1999","unstructured":"Gould E, Reeves AJ, Graziano MS, Gross CG: Neurogenesis in the neocortex of adult primates. Science. 1999, 286: 548-552. 10.1126\/science.286.5439.548.","journal-title":"Science"},{"key":"45_CR31","doi-asserted-by":"publisher","first-page":"2145","DOI":"10.1212\/WNL.53.9.2145","volume":"53","author":"EH Aylward","year":"1999","unstructured":"Aylward EH, Minshew NJ, Goldstein G, Honeycutt NA, Augustine AM, Yates KO, Barta PE, Pearlson GD: MRI volumes of amygdala and hippocampus in non-mentally retarded autistic adolescents and adults. Neurology. 1999, 53: 2145-2150.","journal-title":"Neurology"},{"key":"45_CR32","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1016\/0301-0082(92)90038-G","volume":"38","author":"Y Dumont","year":"1992","unstructured":"Dumont Y, Martel JC, Fournier A, St-Pierre S, Quirion R: Neuropeptide Y and neuropeptide Y receptor subtypes in brain and peripheral tissues. Prog Neurobiol. 1992, 38: 125-167. 10.1016\/0301-0082(92)90038-G.","journal-title":"Prog Neurobiol"},{"key":"45_CR33","doi-asserted-by":"publisher","first-page":"12852","DOI":"10.1073\/pnas.220232997","volume":"97","author":"A Thorsell","year":"2000","unstructured":"Thorsell A, Michalkiewicz M, Dumont Y, Quirion R, Caberlotto L, Rimondini R, Mathe AA, Heilig M: Behavioral insensitivity to restraint stress, absent fear suppression of behavior and impaired spatial learning in transgenic rats with hippocampal neuropeptide Y overexpression. Proc Natl Acad Sci U S A. 2000, 97: 12852-12857. 10.1073\/pnas.220232997.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"45_CR34","first-page":"143","volume":"50","author":"MC Michel","year":"1998","unstructured":"Michel MC, Beck-Sickinger A, Cox H, Doods HN, Herzog H, Larhammar D, Quirion R, Schwartz T, Westfall T: XVI. International Union of Pharmacology recommendations for the nomenclature of neuropeptide Y, peptide YY, and pancreatic polypeptide receptors. Pharmacol Rev. 1998, 50: 143-150.","journal-title":"Pharmacol Rev"},{"key":"45_CR35","doi-asserted-by":"publisher","first-page":"646","DOI":"10.1046\/j.1471-4159.2003.01895.x","volume":"86","author":"OW Howell","year":"2003","unstructured":"Howell OW, Scharfman HE, Herzog H, Sundstrom LE, Beck-Sickinger A, Gray WP: Neuropeptide Y is neuroproliferative for post-natal hippocampal precursor cells. J Neurochem. 2003, 86: 646-659. 10.1046\/j.1471-4159.2003.01895.x.","journal-title":"J Neurochem"},{"key":"45_CR36","doi-asserted-by":"publisher","first-page":"423","DOI":"10.1016\/0896-6273(93)90147-J","volume":"11","author":"Y Yan","year":"1993","unstructured":"Yan Y, Lagenaur C, Narayanan V: Molecular cloning of M6: identification of a PLP\/DM20 gene family. Neuron. 1993, 11: 423-431. 10.1016\/0896-6273(93)90147-J.","journal-title":"Neuron"},{"key":"45_CR37","doi-asserted-by":"publisher","first-page":"532","DOI":"10.1006\/geno.1996.0231","volume":"33","author":"S Olinsky","year":"1996","unstructured":"Olinsky S, Loop BT, DeKosky A, Ripepi B, Weng W, Cummins J, Wenger SL, Yan Y, Lagenaur C, Narayanan V: Chromosomal mapping of the human M6 genes. Genomics. 1996, 33: 532-536. 10.1006\/geno.1996.0231.","journal-title":"Genomics"},{"key":"45_CR38","doi-asserted-by":"publisher","first-page":"886","DOI":"10.1086\/378778","volume":"73","author":"AL Yonan","year":"2003","unstructured":"Yonan AL, Alarcon M, Cheng R, Magnusson PK, Spence SJ, Palmer AA, Grunn A, Juo SH, Terwilliger JD, Liu J, Cantor RM, Geschwind DH, Gilliam TC: A genomewide screen of 345 families for autism-susceptibility loci. Am J Hum Genet. 2003, 73: 886-897. 10.1086\/378778.","journal-title":"Am J Hum Genet"},{"key":"45_CR39","doi-asserted-by":"publisher","first-page":"144","DOI":"10.1038\/sj.mp.4001465","volume":"9","author":"JD Buxbaum","year":"2004","unstructured":"Buxbaum JD, Silverman J, Keddache M, Smith CJ, Hollander E, Ramoz N, Reichert JG: Linkage analysis for autism in a subset families with obsessive-compulsive behaviors: evidence for an autism susceptibility gene on chromosome 1 and further support for susceptibility genes on chromosome 6 and 19. Mol Psychiatry. 2004, 9: 144-150. 10.1038\/sj.mp.4001465.","journal-title":"Mol Psychiatry"}],"container-title":["BMC Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2350-5-10.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/1471-2350-5-10\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2350-5-10","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2350-5-10.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,9,13]],"date-time":"2024-09-13T15:41:29Z","timestamp":1726242089000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcmedgenet.biomedcentral.com\/articles\/10.1186\/1471-2350-5-10"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,4,16]]},"references-count":39,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2004,12]]}},"alternative-id":["45"],"URL":"https:\/\/doi.org\/10.1186\/1471-2350-5-10","relation":{},"ISSN":["1471-2350"],"issn-type":[{"value":"1471-2350","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,4,16]]},"assertion":[{"value":"21 January 2004","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 April 2004","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 April 2004","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"10"}}