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# Ann.
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| PubMed |
10766245 |
ATM phosphorylates p95/nbs1 in an S-phase checkpoint pathway.
The rare diseases ataxia-telangiectasia (AT), caused by mutations in the ATM gene, and Nijmegen breakage syndrome (NBS), with mutations in |
1.37 KB |
2015-11-15 |
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11 |
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0 |
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| PubMed |
10767313 |
Understanding the molecular basis of fragile X syndrome.
Fragile X syndrome, a common form of inherited mental retardation, is mainly caused by massive expansion of CGG triplet repeats located in the |
1.07 KB |
2015-11-21 |
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10 |
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0 |
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| PubMed |
10767326 |
Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development.
Anterior segment developmental disorders, including Axenfeld-Rieger anomaly (ARA), variably asso |
1.85 KB |
2015-11-15 |
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11 |
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0 |
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| PubMed |
10767339 |
(Over)correction of FMR1 deficiency with YAC transgenics: behavioral and physical features.
Fragile X syndrome is a common cause of mental retardation involving loss of expression of the FMR1 gene. Th |
1.81 KB |
2015-11-15 |
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11 |
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0 |
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| PubMed |
10767343 |
Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability.
Myotonic dystrophy (DM) is caused by a CTG re |
1.38 KB |
2015-11-15 |
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11 |
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0 |
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| PubMed |
10767347 |
Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation.
Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in almost |
1.32 KB |
2015-11-15 |
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11 |
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0 |
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| PubMed |
10777718 |
Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations.
Type 1 Gaucher disease (GD), a non-neuronopathic lysosomal storage disorder, results from the defic |
1.98 KB |
2015-11-15 |
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11 |
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0 |
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| PubMed |
10788334 |
Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer.
We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish popul |
1.53 KB |
2015-11-15 |
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35 |
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0 |
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| PubMed |
10790204 |
Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic muta |
1.5 KB |
2015-11-21 |
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18 |
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0 |
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| PubMed |
10797418 |
Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: effects of imprinting.
The Prader-Willi syndrome (PWS) critical region on 15q11-q13 is subj |
1.26 KB |
2015-11-21 |
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14 |
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0 |
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