|
Transposition of Great Vessels
|
0.200 |
Biomarker
|
disease |
BEFREE |
Background Reduced ventricular function and decreased exercise capacity are widespread in adults with complete transposition of the great arteries after atrial switch ( TGA -Mustard/Senning) and congenitally corrected TGA (cc TGA ).
|
30371262 |
2018 |
|
Transposition of Great Vessels
|
0.200 |
Biomarker
|
disease |
BEFREE |
Women with CHD such as pulmonary hypertension (Eisenmenger syndrome), severe left ventricular outflow stenosis, cyanotic CHD, aortopathy, Fontan procedure and systemic right ventricle (complete transposition of the great arteries [TGA] after atrial switch, congenitally corrected TGA) carry a high-risk.
|
29625509 |
2018 |
|
Transposition of Great Vessels
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A novel heterozygous TBX1 mutation, p.S233Y, was identified in a patient with transposition of the great arteries (TGA) and a ventricular septal defect.
|
29250159 |
2018 |
|
Transposition of Great Vessels
|
0.200 |
Biomarker
|
disease |
BEFREE |
At last MUGA follow-up: 6 (33%) cc-TGA/14 (36%) d-TGA patients showed a significant decline in sRVEF (>5%); 6 (33%) cc-TGA/17 (44%) d-TGA patients had a significant increase in sRVEDVi; and 7 (39%) cc-TGA/19 (49%) PA-TGA patients had a significant increase in sRVESVi.
|
28818352 |
2017 |
|
Transposition of Great Vessels
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Among the 12 patients with parathyroid cancer, 1 had a germ-line mutation of the HRPT2 at exon 7, codon 234, CGA (Arg) to TGA (Stop), and 1 patient had a tumor-specific mutation at exon 1, nucleotide 34-37 delAACA.
|
20480190 |
2010 |
|
Transposition of Great Vessels
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Molecular genetic analysis revealed a 747 CGA (Arg)-TGA (End) mutation in exon 22 of the PHEX gene, confirming XLH.
|
14514346 |
2003 |
|
Transposition of Great Vessels
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The first is a nonstop mutation in the normal stop codon 373 of the gene in exon IV [TGA (Stop) --> TGC (Cys) = Stop373C) identified from one allele of a female child with premature pubarche whose second allele had an E142K mutation.
|
12050213 |
2002 |
|
Transposition of Great Vessels
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In two independent patients with classical xanthinuria type II, we identified a C to T base substitution at nucleotide 1255 in the HMCS gene that should cause a CGA (Arg) to TGA (Ter) nonsense substitution at codon 419.
|
11302742 |
2001 |
|
Transposition of Great Vessels
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
One subject had a C to T base substitution at nucleotide 682 that should cause a CGA (Arg) to TGA (Ter) nonsense substitution at codon 228.
|
9153281 |
1997 |
|
Transposition of Great Vessels
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Exon sequences amplified by polymerase chain reaction showed a C-->T transition at nucleotide 587, resulting in a CGA (Arg)--> TGA (Stop) mutation in exon 5 before the splice site in exon 10, thus preventing synthesis of both HK and LK.
|
7901207 |
1993 |
|
Transposition of Great Vessels
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Five were detected as loss of a natural or introduced TaqI site at codons -5, 583, 1941, 2116, and 2209 and were confirmed as CGA (Arg) to TGA (Stop) nonsense mutations by DNA sequencing.
|
1349567 |
1992 |
|
Transposition of Great Vessels
|
0.200 |
Biomarker
|
disease |
BEFREE |
The remaining three detected lesions, CGA (Arg)----TGA (Term) transitions at codons 2116, 2147 and 2307, respectively, have been reported before and are consistent with recurrent mutation at these hypermutable sites.
|
1840568 |
1991 |
|
Transposition of Great Vessels
|
0.200 |
Biomarker
|
disease |
BEFREE |
CGA----TGA (Arg----Term) transitions in the factor VIII gene causing severe haemophilia A were detected in two patients at codons 336 and 427 using a combination of oligonucleotide discrimination hybridization and DNA sequencing.
|
1903760 |
1991 |
|
Transposition of Great Vessels
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|