30 Result(s)
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Mauricio Arcos-Burgos
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Article
Toward a better understanding of ADHD: LPHN3 gene variants and the susceptibility to develop ADHD
During the past 15 years, an impressive amount of genetic information has become available in the research field of psychiatry, particularly as it relates to attention-deficit/hyperactivity disorder (ADHD). Ho...
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Article
Erratum: A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4
Nat. Genet. 42, 525–529 (2010); published online 2 May 2010; corrected after print 12 July 2010. In the version of this article initially published, the author John M Scott (Trinity College, Dublin) was incorr...
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Article
A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4
Terri Beaty and colleagues report a genome-wide association study of cleft lip with/without cleft palate. They identified variants near MAFB and ABCA4 associated with risk of this birth defect in case-parent trio...
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Article
Polymorphisms in the neural nicotinic acetylcholine receptor α4 subunit (CHRNA4) are associated with ADHD in a genetic isolate
The neural nicotinic acetylcholine receptor α4 subunit (CHRNA4), at 20q13.2–q13.3, is an important candidate gene for conferring susceptibility to attention deficit/hyperactivity disorder (ADHD). Several studi...
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Article
Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder
Hartnup disorder, an autosomal recessive defect named after an English family described in 1956 (ref. 1), results from impaired transport of neutral amino acids across epithelial cells in renal proximal tubules a...
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Article
A novel alteration in metaxin 1, F202L, is associated with N370S in Gaucher disease
The gene for glucocerebrosidase (GBA), the enzyme deficient in Gaucher disease, is located in a gene-rich region on 1q21. Metaxin 1(MTX1) is a convergently transcribed gene contiguous to the 3′ end of the GBA pse...
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Evolution of Human Alpha Satellite Sequences Comprising Variant Centromeric Chromosome Regions
This chapter addresses the origin of the alpha satellite repeat arrays comprising variable-size human centromeric chromosome regions. These repeats, which share a basic 171 bp monomeric unit, usually attach he...
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Article
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes
Interferon regulatory factor 6 (IRF6) belongs to a family of nine transcription factors that share a highly conserved helix–turn–helix DNA-binding domain and a less conserved protein-binding domain. Most IRFs ...
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Article
Vitiligo: complex segregation and linkage disequilibrium analyses with respect to microsatellite loci spanning the HLA
Familial clustering and linkage disequilibrium studies suggest that genetic factors predispose to vitiligo, although a clear transmission pattern and cosegregation of vitiligo with specific mutations have not...
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Article
Complex segregation analysis of non-myoclonic idiopathic generalized epilepsy in families ascertained from probands affected with idiopathic epilepsy with tonic-clonic seizures in Antioquia, Colombia
In an attempt to identify the possible role of major genes, multifactorial inheritance, and cohort effects in the susceptibility to idiopathic epilepsy with generalized tonic-clonic seizures of the awakening ...
