Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.
This finding demonstrated that a nucleotide change in a mitochondrial DNA energy production gene can result in a neurological disease.
Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization
It is suggested that genomewide oligonucleotide arrays such as the OaCGH44K platform can be used as a powerful diagnostic tool for detection of genomic imbalances associated with unexplained mental retardation or syndromic autism spectrum disorders.
A prevalent mutation for galactosemia among black Americans.
Classical galactosemia and mutations at the galactose‐1‐phosphate uridyl transferase (GALT) gene
The considerable genetic heterogeneity documented to date undoubtedly contributes to the phenotypic heterogeneity that is observed in galactosemia and the additional effects of nonallelic variation and other constitutional factors on phenotypesic variability remain to be elucidated.
RAI1 variations in Smith–Magenis syndrome patients without 17p11.2 deletions
- S. Girirajan, L. Elsas, K. Devriendt, S. Elsea
- Medicine, BiologyJournal of Medical Genetics
- 23 March 2005
Haploinsufficiency of the RAI1 gene is associated with most features of SMS, including craniofacial, behavioural, and neurological signs and symptoms.
The adult galactosemic phenotype
- S. Waisbren, N. Potter, G. Berry
- Medicine, PsychologyJournal of Inherited Metabolic Disease
- 1 March 2012
The hypothesis that galactosemia is a progressive neurodegenerative disease is not supported, however, greater attention to depression, anxiety, and social relationships may relieve the impact of this disorder in adults.
Verification of the fetal valproate syndrome phenotype.
No consistent alterations of pre- or postnatal growth with exposure to VPA monotherapy is found and the types of defects associated with maternal VPA use may be clarified when classified by pathogenetic mechanism.
The human galactose-1-phosphate uridyltransferase gene.
Gender verification of female athletes
The history and rationales for fairness in female-only sports that have led to the rise and fall of on-site, chromosome-based gender verification at international sporting events are reviewed.
Risk factors for premature ovarian failure in females with galactosemia.
- N. Guerrero, R. H. Singh, A. Manatunga, G. Berry, R. Steiner, L. Elsas
- Medicine, BiologyJornal de Pediatria
- 1 December 2000
The development of POF in females with galactosemia is more likely if the patient's genotype is Q188R/Q188R, if the mean erythrocyte Gal-1-P is >3.5 mg/dL during therapy, and if the recovery of (13)CO(2) from whole-body ( 13)C-galactose oxidation is reduced below 5% of administered (13).