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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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- Article
POLRMT mutations impair mitochondrial transcription causing neurological disease.
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- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-21279-0
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- Article
Comprehensive genotype‐phenotype correlation in AP‐4 deficiency syndrome; Adding data from a large cohort of Iranian patients.
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- Clinical Genetics, 2021, v. 99, n. 1, p. 187, doi. 10.1111/cge.13845
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- Article
A Novel Locus and Candidate Gene for Familial Developmental Dyslexia on Chromosome 4q.
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- Zeitschrift für Kinder- und Jugendpsychiatrie und Psychotherapie, 2020, v. 48, n. 6, p. 478, doi. 10.1024/1422-4917/a000758
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- Article
A Novel Locus and Candidate Gene for Familial Developmental Dyslexia on Chromosome 4q.
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- Zeitschrift für Kinder- und Jugendpsychiatrie und Psychotherapie, 2020, v. 48, n. 6, p. 478, doi. 10.1024/1422-4917/a000758
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- Article
Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1418
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- Article
Homozygous variants in the gene SCAPER cause syndromic intellectual disability.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1214, doi. 10.1002/ajmg.a.61172
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- Article
Identification of disease‐causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families.
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- Clinical Genetics, 2019, v. 95, n. 6, p. 718, doi. 10.1111/cge.13549
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- Article
CNKSR1 gene defect can cause syndromic autosomal recessive intellectual disability.
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- 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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- Article
Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability.
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- Human Mutation, 2017, v. 38, n. 6, p. 621, doi. 10.1002/humu.23205
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- Article
Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation.
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- PLoS Genetics, 2017, v. 13, n. 4, p. 1, doi. 10.1371/journal.pgen.1006746
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- 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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- Article
Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with Ataxia.
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- Archives of Iranian Medicine (AIM), 2015, v. 18, n. 10, p. 670, doi. 0151810/AIM.007
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- 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.
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- Archives of Iranian Medicine (AIM), 2015, v. 18, n. 3, p. 179
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- Article
Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness.
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- Annals of Clinical & Translational Neurology, 2014, v. 1, n. 12, p. 1024, doi. 10.1002/acn3.149
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- Article
Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia.
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- Human Molecular Genetics, 2014, v. 23, n. 23, p. 6163, doi. 10.1093/hmg/ddu337
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- Article
Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3063, doi. 10.1002/ajmg.a.36162
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- Article
A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1915, doi. 10.1002/ajmg.a.36030
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- Article
CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling.
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- Journal of Clinical Investigation, 2013, v. 123, n. 5, p. 2244, doi. 10.1172/JCI66466
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- Article
Ca++/CaMKII switches nociceptor-sensitizing stimuli into desensitizing stimuli.
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- Journal of Neurochemistry, 2012, v. 123, n. 4, p. 589, doi. 10.1111/j.1471-4159.2012.07920.x
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- Article
Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3067, doi. 10.1002/ajmg.a.34291
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- Article
A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1976, doi. 10.1002/ajmg.a.34077
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- Article
Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 203, doi. 10.1002/ajmg.a.33766
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- Article
Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature.
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- 2010
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- journal article
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
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- Nature Genetics, 2010, v. 42, n. 11, p. 1021, doi. 10.1038/ng.677
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- Article
Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing.
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- European Journal of Human Genetics, 2010, v. 18, n. 5, p. 539, doi. 10.1038/ejhg.2009.211
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- Article
Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11.
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- European Journal of Human Genetics, 2010, v. 18, n. 3, p. 291, doi. 10.1038/ejhg.2009.163
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- Article
Establishment of a Mouse Model with Misregulated Chromosome Condensation due to Defective Mcph1 Function.
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- PLoS ONE, 2010, v. 5, n. 2, p. 1, doi. 10.1371/journal.pone.0009242
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- Article
Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon.
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- Human Mutation, 2010, v. 31, n. 1, p. 90, doi. 10.1002/humu.21146
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- Article
An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4.
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- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 125, doi. 10.1038/ejhg.2008.159
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- Article
A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation.
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- Human Mutation, 2009, v. 30, n. 1, p. 61, doi. 10.1002/humu.20814
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- Article
A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.
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- 2008
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- journal article
A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.
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- European Journal of Human Genetics, 2008, v. 16, n. 3, p. 312, doi. 10.1038/sj.ejhg.5201985
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- 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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- Article
Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia.
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- Human Molecular Genetics, 2008, v. 17, n. 3, p. 458
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- 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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- 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.
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- Human Genetics, 2007, v. 121, n. 5, p. 539, doi. 10.1007/s00439-007-0343-1
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- Article
Mutations in autism susceptibility candidate 2 ( AUTS2) in patients with mental retardation.
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- Human Genetics, 2007, v. 121, n. 3/4, p. 501, doi. 10.1007/s00439-006-0284-0
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- Article
X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11.
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- European Journal of Human Genetics, 2007, v. 15, n. 1, p. 68, doi. 10.1038/sj.ejhg.5201714
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- Article
Ulnar–mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.
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- European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1274, doi. 10.1038/sj.ejhg.5201696
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- Article
Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3.
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- European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1317, doi. 10.1038/sj.ejhg.5201707
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- Article
A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome.
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- Human Genetics, 2006, v. 120, n. 2, p. 171, doi. 10.1007/s00439-006-0210-5
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- Article
Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.
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- Human Mutation, 2006, v. 27, n. 4, p. 389, doi. 10.1002/humu.9420
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- Article
Truncation of the CNS-expressed JNK3 in a patient with a severe developmental epileptic encephalopathy.
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- Human Genetics, 2006, v. 118, n. 5, p. 559, doi. 10.1007/s00439-005-0084-y
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- Article
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.
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- Human Genetics, 2006, v. 118, n. 5, p. 578, doi. 10.1007/s00439-005-0072-2
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- Article
Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly.
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- Human Genetics, 2005, v. 117, n. 6, p. 536, doi. 10.1007/s00439-005-1310-3
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- 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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- Article
Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon.
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- Human Genetics, 2003, v. 113, n. 3, p. 268, doi. 10.1007/s00439-003-0970-0
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- Article
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.
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- 2003
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- Correction Notice
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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- Article