|
source DB |
source ID
|
text
|
size
|
updated at |
|
# proj.
|
|
# Ann.
|
updated_at |
| PubMed |
10798358 |
Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene (psiGLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic |
1.83 KB |
2015-11-15 |
|
14 |
|
0 |
-
|
| PubMed |
10802660 |
De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch.
Prader-Willi syndrome (PWS) is a neurogenetic disease characterized by infantile hyp |
1.38 KB |
2015-11-15 |
|
11 |
|
0 |
-
|
| PubMed |
10802667 |
Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy.
Expansion of a CTG trinucleotide repeat in the 3' UTR of the gene DMPK at the DM1 locus on chromosome 19 causes myotonic |
1.28 KB |
2015-11-21 |
|
9 |
|
0 |
-
|
| PubMed |
10802668 |
Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts.
Myotonic dystrophy (DM) is an autosomal dominant disorder characterized by skeletal muscle wasting, myotonia, cardiac arrhyth |
1.8 KB |
2015-11-21 |
|
9 |
|
0 |
-
|
| PubMed |
10802669 |
ATM-dependent phosphorylation of nibrin in response to radiation exposure.
Mutations in the gene ATM are responsible for the genetic disorder ataxia-telangiectasia (A-T), which is characterized by cer |
1.81 KB |
2015-11-15 |
|
11 |
|
0 |
-
|
| PubMed |
10807385 |
Clinicopathologic features of BRCA-linked and sporadic ovarian cancer.
CONTEXT: Most hereditary ovarian cancers are associated with germline mutations in BRCA1 or BRCA2. Attempts to define the clinica |
2.54 KB |
2015-11-15 |
|
11 |
|
0 |
-
|
| PubMed |
10807793 |
The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators.
Familial Mediterranean fever (FMF) is a recessive d |
2.07 KB |
2015-11-21 |
|
10 |
|
0 |
-
|
| PubMed |
10814710 |
Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes.
Mucopolysaccharidosis IVA (MPS IVA; OMIM#253000), a |
1.9 KB |
2015-11-15 |
|
12 |
|
0 |
-
|
| PubMed |
10817650 |
Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients.
Mutations at the ataxia-telangiectasia (A-T) locus on chromosome band 11q22 cause a distinctive autosomal recessiv |
1.55 KB |
2015-11-28 |
|
9 |
|
0 |
-
|
| PubMed |
10818206 |
Isolation, genomic organization, and expression analysis of the mouse and rat homologs of MEFV, the gene for familial mediterranean fever.
Familial Mediterranean fever (FMF) is a recessive disorder ch |
1.67 KB |
2015-11-21 |
|
10 |
|
0 |
-
|
