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Rare diseases: human genome research is coming home.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006210
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- Publication type:
- Article
Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region.
- Published in:
- Human Genetics, 2007, v. 121, n. 5, p. 539, doi. 10.1007/s00439-007-0343-1
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- Publication type:
- Article
Mutations in autism susceptibility candidate 2 ( AUTS2) in patients with mental retardation.
- Published in:
- Human Genetics, 2007, v. 121, n. 3/4, p. 501, doi. 10.1007/s00439-006-0284-0
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- Publication type:
- Article
A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome.
- Published in:
- Human Genetics, 2006, v. 120, n. 2, p. 171, doi. 10.1007/s00439-006-0210-5
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- Publication type:
- Article
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.
- Published in:
- Human Genetics, 2006, v. 118, n. 5, p. 578, doi. 10.1007/s00439-005-0072-2
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- Publication type:
- Article
Truncation of the CNS-expressed JNK3 in a patient with a severe developmental epileptic encephalopathy.
- Published in:
- Human Genetics, 2006, v. 118, n. 5, p. 559, doi. 10.1007/s00439-005-0084-y
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- Publication type:
- Article
Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly.
- Published in:
- Human Genetics, 2005, v. 117, n. 6, p. 536, doi. 10.1007/s00439-005-1310-3
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- Publication type:
- Article
Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon.
- Published in:
- Human Genetics, 2003, v. 113, n. 3, p. 268, doi. 10.1007/s00439-003-0970-0
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- Publication type:
- Article
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome.
- Published in:
- Human Genetics, 2003, v. 112, n. 3, p. 249, doi. 10.1007/s00439-002-0901-5
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- Publication type:
- Article
Ca++/CaMKII switches nociceptor-sensitizing stimuli into desensitizing stimuli.
- Published in:
- Journal of Neurochemistry, 2012, v. 123, n. 4, p. 589, doi. 10.1111/j.1471-4159.2012.07920.x
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- Publication type:
- Article
Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 23, p. 6163, doi. 10.1093/hmg/ddu337
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- Publication type:
- Article
Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 3, p. 458
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- Publication type:
- Article
Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness.
- Published in:
- Annals of Clinical & Translational Neurology, 2014, v. 1, n. 12, p. 1024, doi. 10.1002/acn3.149
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- Publication type:
- Article
Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 5, p. 539, doi. 10.1038/ejhg.2009.211
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- Publication type:
- Article
Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 3, p. 291, doi. 10.1038/ejhg.2009.163
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- Publication type:
- Article
An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 125, doi. 10.1038/ejhg.2008.159
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- Publication type:
- Article
A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 3, p. 312, doi. 10.1038/sj.ejhg.5201985
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- Publication type:
- Article
Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome.
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- European Journal of Human Genetics, 2008, v. 16, n. 2, p. 270, doi. 10.1038/sj.ejhg.5201967
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- Publication type:
- Article
Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome.
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- European Journal of Human Genetics, 2007, v. 15, n. 6, p. 711, doi. 10.1038/sj.ejhg.5201824
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- Publication type:
- Article
X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 1, p. 68, doi. 10.1038/sj.ejhg.5201714
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- Publication type:
- Article
Ulnar–mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1274, doi. 10.1038/sj.ejhg.5201696
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- Publication type:
- Article
Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1317, doi. 10.1038/sj.ejhg.5201707
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- Publication type:
- Article
Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome.
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- European Journal of Human Genetics, 2005, v. 13, n. 8, p. 921, doi. 10.1038/sj.ejhg.5201429
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- Publication type:
- Article
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.
- Published in:
- 2003
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- Publication type:
- Correction Notice
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 2, p. 201, doi. 10.1038/sj.ejhg.5200935
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- Publication type:
- Article
Evidence against a major role of PEG1/MEST in Silver–Russell syndrome.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 2, p. 114, doi. 10.1038/sj.ejhg.5200164
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- Publication type:
- Article
Ichthyosis Bullosa of Siemens Is Caused by Mutations in the Keratin 2e Gene.
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- Journal of Investigative Dermatology, 1994, v. 103, n. 3, p. 286, doi. 10.1111/1523-1747.ep12394414
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- Publication type:
- Article
Genetic Linkage of the Keratin Type II Gene Cluster with Ichthyosis Bullosa of Siemens and with Autosomal Dominant Ichthyosis Exfoliativa.
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- Journal of Investigative Dermatology, 1994, v. 103, n. 3, p. 282, doi. 10.1111/1523-1747.ep12394335
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- Publication type:
- Article
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
- Published in:
- Nature Genetics, 2010, v. 42, n. 11, p. 1021, doi. 10.1038/ng.677
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- Publication type:
- Article
Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation.
- Published in:
- eLife, 2016, p. 1, doi. 10.7554/eLife.16078
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- Publication type:
- Article
CNKSR1 gene defect can cause syndromic autosomal recessive intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2018, v. 177, n. 8, p. 691, doi. 10.1002/ajmg.b.32648
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- Publication type:
- Article
Comprehensive genotype‐phenotype correlation in AP‐4 deficiency syndrome; Adding data from a large cohort of Iranian patients.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 1, p. 187, doi. 10.1111/cge.13845
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- Publication type:
- Article
Identification of disease‐causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 6, p. 718, doi. 10.1111/cge.13549
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- Publication type:
- Article
POLRMT mutations impair mitochondrial transcription causing neurological disease.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-21279-0
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- Publication type:
- Article
Establishment of a Mouse Model with Misregulated Chromosome Condensation due to Defective Mcph1 Function.
- Published in:
- PLoS ONE, 2010, v. 5, n. 2, p. 1, doi. 10.1371/journal.pone.0009242
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- Publication type:
- Article
Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with Ataxia.
- Published in:
- Archives of Iranian Medicine (AIM), 2015, v. 18, n. 10, p. 670, doi. 0151810/AIM.007
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- Publication type:
- Article
New Evidence for the Role of Calpain 10 in Autosomal Recessive Intellectual Disability: Identification of Two Novel Nonsense Variants by Exome Sequencing in Iranian Families.
- Published in:
- Archives of Iranian Medicine (AIM), 2015, v. 18, n. 3, p. 179
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- Publication type:
- Article
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation.
- Published in:
- Nature Genetics, 2002, v. 30, n. 4, p. 436, doi. 10.1038/ng857
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- Publication type:
- Article
MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation.
- Published in:
- Nature Genetics, 2001, v. 29, n. 3, p. 287, doi. 10.1038/ng762
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- Publication type:
- Article
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation.
- Published in:
- Nature Genetics, 2000, v. 26, n. 2, p. 247, doi. 10.1038/80002
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- Publication type:
- Article
CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling.
- Published in:
- Journal of Clinical Investigation, 2013, v. 123, n. 5, p. 2244, doi. 10.1172/JCI66466
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- Publication type:
- Article
Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature.
- Published in:
- 2010
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- Publication type:
- journal article
A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.
- Published in:
- 2008
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- Publication type:
- journal article
Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3067, doi. 10.1002/ajmg.a.34291
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- Publication type:
- Article
A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1976, doi. 10.1002/ajmg.a.34077
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- Publication type:
- Article
Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 203, doi. 10.1002/ajmg.a.33766
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- Publication type:
- Article
Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndrome.
- Published in:
- Kidney International, 1992, v. 42, n. 1, p. 83, doi. 10.1038/ki.1992.264
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- Publication type:
- Article
Localization of the gene for X-linked Alport's syndrome.
- Published in:
- Kidney International, 1988, v. 34, n. 4, p. 507, doi. 10.1038/ki.1988.210
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- Publication type:
- Article
Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon.
- Published in:
- Human Mutation, 2010, v. 31, n. 1, p. 90, doi. 10.1002/humu.21146
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- Publication type:
- Article
A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation.
- Published in:
- Human Mutation, 2009, v. 30, n. 1, p. 61, doi. 10.1002/humu.20814
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- Publication type:
- Article