Human genetics
- Label
- Human genetics (literal)
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi
- Gene symbol: PSEN2. Disease: Alzheimer disease. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- aaaa anti-3.7 type II: a new alpha-globin gene rearrangement suggesting that the alpha-globin gene duplication could be caused by intrachromosomal recombination (Articolo in rivista) (Prodotto della ricerca)
- Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Population stratification may bias analysis of PGC-1alpha as amodifiewr of age at Huntington disease motor onset (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Methylenetetrahydrofolate reductase gene C677T polymorphism, homocysteine, vitamin B12, and DNA damage in coronary artery disease (Articolo in rivista) (Prodotto della ricerca)
- New clues on the origin of the Friedreich ataxia expanded alleles from the analysis of new polymorphisms closely linked to the mutation. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Gene symbol: MECP2. Disease: Rett syndrome (Articolo in rivista) (Prodotto della ricerca)
- Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium. (Articolo in rivista) (Prodotto della ricerca)
- Genetic analysis of twenty-two patients with Cockayne syndrome (Articolo in rivista) (Prodotto della ricerca)
- X-linked ichthyosis due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationship with Xg and cloned DNA sequences from the distal short arm of the X chromosome (Articolo in rivista) (Prodotto della ricerca)
- Population stratification may bias analysis of PGC-1? as a modifier of age at Huntington disease motor onset. (Articolo in rivista) (Prodotto della ricerca)
- The STR252-IVS10nt546-VNTR7 phenylalanine hydroxylase minihaplotype in five Mediterranean samples. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Analysis of 22 deletion breakpoints in dystrophin intron 49. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Genetic analysis of Down syndrome-associated heart defects in mice. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA), (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Ocular refraction: heritability and genome-wide search for eye morphometry traits in an isolated Sardinian population. (Articolo in rivista) (Prodotto della ricerca)
- Novel human pathological mutations. Gene symbol: SCN1A. Disease: severe myoclonic epilepsy of infancy. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Novel human pathological mutations. Gene symbol: PARK2. Disease: Parkinson's disease. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Gene symbol: NOTCH3. Disease CADASIL. (Articolo in rivista) (Prodotto della ricerca)
- Gene symbol: NOTCH3. Disease: CADASIL. (Articolo in rivista) (Prodotto della ricerca)
- Gene Symbol: MECP2. Disease: Rett Syndrome. (Articolo in rivista) (Prodotto della ricerca)
- Not all isolates are equal: linkage disequilibrium analysis on Xq13.3 reveals different patterns in Sardinian sub-populations. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A large interstitial deletion encompassing the amelogenin gene on the short arm of the Y chromosome (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Gene symbol: NOTCH3. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Striking differentiation of sub-populations within a genetically homogeneous isolate (Ogliastra) in Sardinia as revealed by mtDNA analysis. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Gene symbol: MECP2. Disease: Rett syndrome (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A novel single-base mutation in the glucose 6-phosphate dehydrogenase gene is associated with chronic non-spherocytic haemolytic anaemia (Articolo in rivista) (Prodotto della ricerca)
- Alternative label
- Human genetics (Berlin. Print) (literal)
- Hum. genet. (literal)
- Human genetics. (literal)
- Language
- mul (literal)
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#issn
- 0340-6717 (literal)
- Preferred label
- Human genetics (literal)
- Publisher
- Springer Berlin : DEU (literal)
Incoming links:
- Rivista
- New clues on the origin of the Friedreich ataxia expanded alleles from the analysis of new polymorphisms closely linked to the mutation. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA), (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Not all isolates are equal: linkage disequilibrium analysis on Xq13.3 reveals different patterns in Sardinian sub-populations. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Striking differentiation of sub-populations within a genetically homogeneous isolate (Ogliastra) in Sardinia as revealed by mtDNA analysis. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Ocular refraction: heritability and genome-wide search for eye morphometry traits in an isolated Sardinian population. (Articolo in rivista) (Prodotto della ricerca)
- Genetic analysis of Down syndrome-associated heart defects in mice. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Analysis of 22 deletion breakpoints in dystrophin intron 49. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Methylenetetrahydrofolate reductase gene C677T polymorphism, homocysteine, vitamin B12, and DNA damage in coronary artery disease (Articolo in rivista) (Prodotto della ricerca)
- Gene symbol: PSEN2. Disease: Alzheimer disease. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Gene symbol: NOTCH3. Disease CADASIL. (Articolo in rivista) (Prodotto della ricerca)
- Gene symbol: NOTCH3. Disease: CADASIL. (Articolo in rivista) (Prodotto della ricerca)
- Gene Symbol: MECP2. Disease: Rett Syndrome. (Articolo in rivista) (Prodotto della ricerca)
- Gene symbol: MECP2. Disease: Rett syndrome (Articolo in rivista) (Prodotto della ricerca)
- Gene symbol: MECP2. Disease: Rett syndrome (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Novel human pathological mutations. Gene symbol: SCN1A. Disease: severe myoclonic epilepsy of infancy. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A large interstitial deletion encompassing the amelogenin gene on the short arm of the Y chromosome (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium. (Articolo in rivista) (Prodotto della ricerca)
- Novel human pathological mutations. Gene symbol: PARK2. Disease: Parkinson's disease. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Gene symbol: NOTCH3. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Population stratification may bias analysis of PGC-1? as a modifier of age at Huntington disease motor onset. (Articolo in rivista) (Prodotto della ricerca)
- X-linked ichthyosis due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationship with Xg and cloned DNA sequences from the distal short arm of the X chromosome (Articolo in rivista) (Prodotto della ricerca)
- The STR252-IVS10nt546-VNTR7 phenylalanine hydroxylase minihaplotype in five Mediterranean samples. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Genetic analysis of twenty-two patients with Cockayne syndrome (Articolo in rivista) (Prodotto della ricerca)
- A novel single-base mutation in the glucose 6-phosphate dehydrogenase gene is associated with chronic non-spherocytic haemolytic anaemia (Articolo in rivista) (Prodotto della ricerca)
- aaaa anti-3.7 type II: a new alpha-globin gene rearrangement suggesting that the alpha-globin gene duplication could be caused by intrachromosomal recombination (Articolo in rivista) (Prodotto della ricerca)
- Population stratification may bias analysis of PGC-1alpha as amodifiewr of age at Huntington disease motor onset (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)