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Dual inhibition of the endothelin and angiotensin receptor ameliorates renal and inner ear pathologies in Alport mice.
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- Journal of Pathology, 2023, v. 260, n. 3, p. 353, doi. 10.1002/path.6087
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- Article
Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-022-02578-1
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- Article
Multiple freeze-thaw cycles lead to a loss of consistency in poly(A)-enriched RNA sequencing.
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- BMC Genomics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s12864-021-07381-z
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- Article
Hierarchical cortical transcriptome disorganization in autism.
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- Molecular Autism, 2017, v. 8, p. 1, doi. 10.1186/s13229-017-0147-7
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- Article
Cell cycle networks link gene expression dysregulation, mutation, and brain maldevelopment in autistic toddlers.
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- Molecular Systems Biology, 2015, v. 11, n. 12, p. n/a, doi. 10.15252/msb.20156108
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- Article
Prediction of Autism by Translation and Immune/Inflammation Coexpressed Genes in Toddlers From Pediatric Community Practices.
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- JAMA Psychiatry, 2015, v. 72, n. 4, p. 386, doi. 10.1001/jamapsychiatry.2014.3008
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- Article
Age-Dependent Brain Gene Expression and Copy Number Anomalies in Autism Suggest Distinct Pathological Processes at Young Versus Mature Ages.
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- PLoS Genetics, 2012, v. 8, n. 3, p. 1, doi. 10.1371/journal.pgen.1002592
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- Article
Global Developmental Gene Expression and Pathway Analysis of Normal Brain Development and Mouse Models of Human Neuronal Migration Defects.
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- PLoS Genetics, 2011, v. 7, n. 3, p. 1, doi. 10.1371/journal.pgen.1001331
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- Article
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.
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- 2010
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- Correction notice
Novel Embryonic Neuronal Migration and Proliferation Defects in Dcx Mutant Mice Are Exacerbated by Lis1 Reduction.
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- Journal of Neuroscience, 2010, v. 30, n. 8, p. 3002, doi. 10.1523/JNEUROSCI.4851-09.2010
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- Article
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.
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- European Journal of Human Genetics, 2010, v. 18, n. 2, p. 163, doi. 10.1038/ejhg.2009.152
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- Article
Corrigendum to: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.
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- 2010
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- Correction notice
Distinct Dose-Dependent Cortical Neuronal Migration and Neurite Extension Defects in Lis1 and Ndel1 Mutant Mice.
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- Journal of Neuroscience, 2009, v. 29, n. 49, p. 15520, doi. 10.1523/JNEUROSCI.4630-09.2009
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- Article
Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion.
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- European Journal of Human Genetics, 2008, v. 16, n. 8, p. 880, doi. 10.1038/ejhg.2008.42
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- Article
Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2.
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- Human Mutation, 2007, v. 28, n. 5, p. 459, doi. 10.1002/humu.20465
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- Article
Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis.
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- Human Genetics, 2007, v. 121, n. 3/4, p. 441, doi. 10.1007/s00439-007-0329-z
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- Article
Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams–Beuren locus.
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- European Journal of Human Genetics, 2007, v. 15, n. 1, p. 62, doi. 10.1038/sj.ejhg.5201730
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- Article
Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.
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- European Journal of Human Genetics, 2007, v. 15, n. 1, p. 76, doi. 10.1038/sj.ejhg.5201719
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- Article
Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature.
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- Human Reproduction, 2006, v. 21, n. 6, p. 1477, doi. 10.1093/humrep/dei495
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- Article
Direct duplication 12p11.21–p13.31 mediated by segmental duplications: a new recurrent rearrangement?
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- Human Genetics, 2005, v. 118, n. 2, p. 207, doi. 10.1007/s00439-005-0008-x
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- Article
Reciprocal translocations: a trap for cytogenetists?
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- Human Genetics, 2005, v. 117, n. 6, p. 571, doi. 10.1007/s00439-005-1324-x
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- Article
A 2.3?Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotype.
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- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 586, doi. 10.1038/sj.ejhg.5201369
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- Article
A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28.
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- European Journal of Human Genetics, 2004, v. 12, n. 10, p. 829, doi. 10.1038/sj.ejhg.5201186
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- Article
Inverted duplications: how many of them are mosaic?
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- European Journal of Human Genetics, 2004, v. 12, n. 9, p. 713, doi. 10.1038/sj.ejhg.5201240
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- Article
TBX1 is required for inner ear morphogenesis.
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- Human Molecular Genetics, 2003, v. 12, n. 16, p. 2041, doi. 10.1093/hmg/ddg216
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- Article
Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mince.
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- Nature, 2001, v. 410, n. 6824, p. 97, doi. 10.1038/35065105
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- Article
A patient with maternal chromosome 14 UPD presenting with a mild phenotype and MODY.
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- Clinical Genetics, 2000, v. 57, n. 5, p. 406, doi. 10.1034/j.1399-0004.2000.570514.x
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- Article