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Partial maternal heterodisomy of chromosome 17q25 in a case of severe mental retardation.
- Published in:
- Human Genetics, 2001, v. 108, n. 6, p. 511, doi. 10.1007/s004390100522
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- Publication type:
- Article
Loss of the neurodevelopmental disease-associated gene miR-146a impairs neural progenitor differentiation and causes learning and memory deficits.
- Published in:
- Molecular Autism, 2020, v. 11, n. 1, p. 1, doi. 10.1186/s13229-020-00328-3
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- Publication type:
- Article
Role of <italic>miR-146a</italic> in neural stem cell differentiation and neural lineage determination: relevance for neurodevelopmental disorders.
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- Molecular Autism, 2018, v. 9, n. 1, p. N.PAG, doi. 10.1186/s13229-018-0219-3
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- Publication type:
- Article
Refining the phenotype associated with CASC5 mutation.
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- Neurogenetics, 2016, v. 17, n. 1, p. 71, doi. 10.1007/s10048-015-0468-7
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- Publication type:
- Article
Between hope and reality: treatment of genetic diseases through nucleic acid-based drugs.
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- Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-06121-9
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- Publication type:
- Article
Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.
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- Human Molecular Genetics, 2013, v. 22, n. 16, p. 3306, doi. 10.1093/hmg/ddt187
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- Publication type:
- Article
AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability.
- Published in:
- Nature Communications, 2017, v. 8, n. 7, p. 15910, doi. 10.1038/ncomms15910
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- Publication type:
- Article
NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications.
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- European Journal of Human Genetics, 2013, v. 21, n. 2, p. 195, doi. 10.1038/ejhg.2012.140
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- Publication type:
- Article
Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition.
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- European Journal of Human Genetics, 2010, v. 18, n. 3, p. 285, doi. 10.1038/ejhg.2009.159
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- Publication type:
- Article
Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth.
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- European Journal of Human Genetics, 2010, v. 18, n. 2, p. 227, doi. 10.1038/ejhg.2009.162
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- Publication type:
- Article
Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21.
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- European Journal of Human Genetics, 2009, v. 17, n. 4, p. 454, doi. 10.1038/ejhg.2008.214
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- Publication type:
- Article
Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome.
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- European Journal of Human Genetics, 2006, v. 14, n. 6, p. 759, doi. 10.1038/sj.ejhg.5201613
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- Publication type:
- Article
A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 5, p. 319, doi. 10.1038/sj.ejhg.5200591
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- Publication type:
- Article
The human EZH2 gene: genomic organisation and revised mapping in 7q35 within the critical region for malignant myeloid disorders.
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- European Journal of Human Genetics, 2000, v. 8, n. 3, p. 174, doi. 10.1038/sj.ejhg.5200439
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- Publication type:
- Article
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.
- Published in:
- Nature Genetics, 2012, v. 44, n. 11, p. 1255, doi. 10.1038/ng.2441
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- Publication type:
- Article
Exome sequencing findings in 27 patients with myoclonic‐atonic epilepsy: Is there a major genetic factor?
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- Clinical Genetics, 2019, v. 96, n. 3, p. 254, doi. 10.1111/cge.13581
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- Publication type:
- Article
Les mutations du gène NONO sont responsables d’un nouveau syndrome de déficience intellectuelle lié au dysfonctionnement des synapses inhibitrices.
- Published in:
- Médecine Sciences, 2016, v. 32, n. 6, p. 571, doi. 10.1051/medsci/20163206015
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- Publication type:
- Article
Dérégulation de l’expression des gènes à réponse précoce et déficience intellectuelle.
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- Médecine Sciences, 2012, v. 28, n. 2, p. 128, doi. 10.1051/medsci/2012282003
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- Publication type:
- Article
INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex.
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- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-33547-8
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- Publication type:
- Article
Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population.
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- 2016
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- Publication type:
- journal article
XI. Yeast sequencing reports. The sequence of a 9·3 kb segment located on the left arm of the yeast chromosome XI reveals five open reading frames including the CCE1 gene and putative products related to MYO2 and to the ribosomal protein L10.
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- Yeast, 1992, v. 8, n. 11, p. 987, doi. 10.1002/yea.320081109
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- Publication type:
- Article
Sequence of a segment of yeast chromosome XI identifies a new mitochondrial carrier,a new member of the G protein family, and a protein with the PAAKK motif of the H1 histones.
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- Yeast, 1992, v. 8, n. 4, p. 325, doi. 10.1002/yea.320080410
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- Publication type:
- Article
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.
- Published in:
- Human Mutation, 2009, v. 30, n. 4, p. 669, doi. 10.1002/humu.20935
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- Publication type:
- Article
Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome.
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- Human Mutation, 2008, v. 29, n. 7, p. 966, doi. 10.1002/humu.20531
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- Publication type:
- Article
Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.
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- Human Mutation, 2007, v. 28, n. 2, p. 205, doi. 10.1002/humu.9478
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- Publication type:
- Article
Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5′ untranslated region of the NIPBL Gene.
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- Human Mutation, 2006, v. 27, n. 8, p. 731, doi. 10.1002/humu.20380
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- Publication type:
- Article
A rapid microarray based whole genome analysis for detection of uniparental disomy.
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- Human Mutation, 2005, v. 26, n. 2, p. 153, doi. 10.1002/humu.20198
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- Publication type:
- Article
A polymorphic microsatellite XNP-GT in the XNP/ATRX gene's promotor allows familial indirect diagnosis.
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- Human Mutation, 1999, v. 14, n. 5, p. 448, doi. 10.1002/(SICI)1098-1004(199911)14:5<448::AID-HUMU15>3.0.CO;2-Q
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- Publication type:
- Article
Profiling olfactory stem cells from living patients identifies miRNAs relevant for autism pathophysiology.
- Published in:
- Molecular Autism, 2016, v. 7, p. 1, doi. 10.1186/s13229-015-0064-6
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- Publication type:
- Article
Castration-Resistant Prostate Cancer: From Uncovered Resistance Mechanisms to Current Treatments.
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- Cancers, 2023, v. 15, n. 20, p. 5047, doi. 10.3390/cancers15205047
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- Publication type:
- Article
Mutation in TTI2 Reveals a Role for Triple T Complex in Human Brain Development.
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- Human Mutation, 2013, v. 34, n. 11, p. 1472, doi. 10.1002/humu.22399
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- Publication type:
- Article
Distal duplication of chromosome 16q22.1q23.1 in a Vietnamese patient with midface hypoplasia and intellectual disability.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1981, doi. 10.1002/ajmg.a.40375
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- Publication type:
- Article
Novel de novo <italic>ZBTB20</italic> mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1091, doi. 10.1002/ajmg.a.38684
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- Publication type:
- Article
Multiple congenital anomalies-intellectual disability (MCA-ID) and neuroblastoma in a patient harboring a de novo 14q23.1q23.3 deletion.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1310, doi. 10.1002/ajmg.a.36452
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- Publication type:
- Article
Xq25 duplications encompassing GRIA 3 and STAG 2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1370, doi. 10.1002/ajmg.a.35307
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- Publication type:
- Article
Contiguous mutation syndrome in the era of high-throughput sequencing.
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- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 3, p. 215, doi. 10.1002/mgg3.134
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- Publication type:
- Article
Extracellular proteases and their inhibitors ingenetic diseases of the central nervous system.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 2, p. 195, doi. 10.1093/hmg/ddg276
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- Publication type:
- Article
Extracellular proteases and their inhibitors ingenetic diseases of the central nervous system.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. suppl_2, p. R195, doi. 10.1093/hmg/ddg276
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- Publication type:
- Article
Specific interaction between the XNP /ATR-X gene product and the SET domain of the human EZH2 protein.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 4, p. 679, doi. 10.1093/hmg/7.4.679
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- Publication type:
- Article
Molecular analysis of four males with mental retardation and deletions of Xq21 places the putative MR region in Xq21.1 between DXS233 and CHM.
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- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1465
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- Publication type:
- Article
Rapid physical mapping of YAC inserts by random integration of I-Sce I sites.
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- Human Molecular Genetics, 1993, v. 2, n. 3, p. 265
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- Publication type:
- Article