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genotype

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Book Chapter
Series: Monographs in Human Genetics
Volume: 17
Published: 02 October 2008
10.1159/000164838
EISBN: 978-3-8055-8654-2
... Abstract Noonan syndrome (NS) is an autosomal dominant disorder mainly characterized by short stature, distinct facial anomalies and congenital heart defects. The cumulative record of genotype-phenotype correlations clearly indicates that PTPN11 gene mutations, responsible for almost half...
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Series: Developments in Biologicals
Volume: 132
Published: 08 August 2008
10.1159/000317171
EISBN: 978-3-8055-9596-4
... polymorphisms (SNPs), distributed along the MHC sequence were genotyped. Correlation between VNTR marker alleles and serology was studied in more than 800 animals and correspondence between SNP haplotypes and allele size was defined. A complete table of correspondence between VNTR allele sizes, SNP genotypes...
Book Chapter
Series: Monographs in Human Genetics
Volume: 16
Published: 17 April 2008
10.1159/000126543
EISBN: 978-3-8055-8521-7
... Ras protein, although several additional roles for the protein arenow recognised.Establishing a close correlation between specific disease gene mutations and an associatedclinical phenotype in affected patients can be a challenging task in molecular clinicalgenetics. For NF1, only two such genotype...
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Series: Frontiers of Oral Biology
Volume: 12
Published: 04 February 2008
10.1159/000115035
EISBN: 978-3-8055-8152-3
... will review (1) the chromosomal regions associated with syndromic forms of the malformation,(2) the genes in which a large number of mutations have been reported by independentstudies (FGFR1, FGFR2, FGFR3, TWIST1 and EFNB1) and (3) the molecularmechanisms and genotype-phenotype correlations of such mutations. ...
Book Chapter
Series: Monographs in Human Genetics
Volume: 15
Published: 15 May 2007
10.1159/000102547
EISBN: 978-3-318-01461-7
... observed, mainly for mutations in FANCA and FANCC, in isolated populations withdefined founder mutations. With the exception of complementation groups FA-D1 and FA-Nwhose patients overwhelmingly present with malignancies in early childhood, most FA geneslack strict genotype-phenotype correlations. Rather...
Book Chapter
Series: Advances in Oto-Rhino-Laryngology
Volume: 65
Published: 22 January 2007
10.1159/000098745
EISBN: 978-3-318-01343-6
... towards the discovery of new genesinvolved in the pathway of abnormal bone metabolism in the human labyrinth. As soon asone of the otosclerotic genes is identified, it would allow us to identify genotype-phenotypecorrelations. From other deafness genes, it is know that different mutations in the same...
Book Chapter
Series: Progress in Respiratory Research
Volume: 34
Published: 07 October 2005
10.1159/000088475
EISBN: 978-3-318-01240-8
... Abstract The primary defect in cystic fibrosis (CF) is dysfunction ofcystic fibrosis transmembrane conductance regulator (CFTR)caused by mutations in the CFTR gene. In order to betterunderstand the effect of CFTR mutations on disease severityand progression, genotype-phenotype (G-P) correlation...
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Series: Forum of Nutrition
Volume: 60
Published: 17 August 2007
10.1159/000107078
EISBN: 978-3-318-01499-0
... or the markers with a close relationship withcausative markers. There are over 10 million SNPs reported and each SNP contains limitedgenetic information due to the limited number of alleles. To cover these limitations,researchers have to genotype many SNP markers to find appropriate associations. As a result...
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