Published in American journal of medical genetics. Part A
Polymicrogyria (PMG) is a heterogeneous brain malformation that may result from prenatal vascular disruption or infection, or from numerous genetic causes that still remain difficult to identify. We identified three unrelated patients with polymicrogyria and duplications of chromosome 2p, defined the smallest region of overlap, and performed gene p...
Published in Genes
The genotype of gal and d60 were investigated in 33 rice varieties chosen from representative semidwarf and dwarf rice varieties. These were crossed with three tester lines, the d60Gal line (genotype d60d60GalGal ), the D60gal line (Koshihikari, D60D60galgal ), and the D60Gal line ( D60D60GalGal ). Each F1 plant was measured for culm length, and se...
Published in International Journal of Molecular Sciences
Genetic analysis of “InochinoIchi,” an exceptionally large grain rice variety, was conducted through five continuous backcrosses with Koshihikari as a recurrent parent using the large grain F3 plant in Koshihikari × Inochinoichi as a nonrecurrent parent. Thorough the F2 and all BCnF2 generations, large, medium, and small grain segregated in a 1:2:1...
Published in Molecular genetics & genomic medicine
CYP1B1 variants and deletions are the most common cause of primary congenital glaucoma (PCG). We investigated an individual with PCG from the Australian and New Zealand Registry of Advanced Glaucoma. We performed sequencing of the CYP1B1 gene, followed by Multiplex Ligation-dependent Probe Amplification and SNP array. We identified a homozygous del...
Review on t(2;2)(p22;p22) and del(2)(p22p22) LTBP1/BIRC6 in breast and lung cancers, with data on the genes involved.
The term hemochromatosis (HC) corresponds to several diseases characterized by systemic iron overload of genetic origin and affecting both the quality of life and life expectancy. Major improvement in the knowledge of iron metabolism permits to divide these diseases into two main pathophysiological categories. For most HC forms (types 1, 2, 3 and 4...
Review on t(2;2)(p22;p22) and del(2)(p22p22) LTBP1/BIRC6 in acute myeloid leukemia, with data on the genes involved.
Review on t(2;11)(p21;q23) with MLL (KMT2A) involvement, with data on clinics, and the genes involved.
Published in Genes, brain, and behavior
Impulsivity is a multi-faceted construct that, while characterized by a set of correlated dimensions, is centered around a core definition that involves acting suddenly in an unplanned manner without consideration for the consequences of such behavior. Several psychiatric disorders include impulsivity as a criterion, and thus it has been suggested ...
Review on t(2;9)(q12;q34), with data on clinics, and the genes involved.
