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Qiuli Liu, Gang Yuan, Dali Tong, Gaolei Liu, Yuting Yi, Jun Zhang, Yao Zhang, Lin-ang Wang, Luofu Wang, Dianzheng Zhang, Rongrong Chen, Yanfang Guan, Xin Yi, Weihua Lan and Jun Jiang

). Since some data suggest that the same mutation might cause different VHL types in different races ( 8 , 9 ), it is critical to fully characterize genotype–phenotype correlations of this disease in different patient populations. In this study, we

Open access

Stefan Riedl, Friedrich-Wilhelm Röhl, Walter Bonfig, Jürgen Brämswig, Annette Richter-Unruh, Susanne Fricke-Otto, Markus Bettendorf, Felix Riepe, Gernot Kriegshäuser, Eckhard Schönau, Gertrud Even, Berthold Hauffa, Helmuth-Günther Dörr, Reinhard W Holl, Klaus Mohnike and the AQUAPE CAH Study Group

remainder mutations. Most mutations are inherited and only a small proportion are due to rare or de novo mutations ( 8 ). Correlation between the genotype and clinical phenotype depends on the degree of residual 21-hydroxylase activity. Many studies have

Open access

Zofia Kolesinska, James Acierno Jr, S Faisal Ahmed, Cheng Xu, Karina Kapczuk, Anna Skorczyk-Werner, Hanna Mikos, Aleksandra Rojek, Andreas Massouras, Maciej R Krawczynski, Nelly Pitteloud and Marek Niedziela

insensitivity (CAIS) ( 2 ), in the majority of cases neither the clinical presentation nor the phenotype–genotype correlation is indicative enough to predict a precise diagnosis. The observed phenotypic heterogeneity is partially explained by complex

Open access

Yiqiang Huang, Lin-ang Wang, Qiubo Xie, Jian Pang, Luofu Wang, Yuting Yi, Jun Zhang, Yao Zhang, Rongrong Chen, Weihua Lan, Dianzheng Zhang and Jun Jiang

Medical Genetics 2006 7 1 . ( https://doi.org/10.1186/1471-2350-7-1 ) 26 Timmers H Kozupa A Eisenhofer G Raygada M Adams K Solis D Lenders J Pacak K. Clinical presentations, biochemical phenotypes, and genotype-phenotype correlations in patients

Open access

Sandra R Dahl, Ingrid Nermoen, Ingeborg Brønstad, Eystein S Husebye, Kristian Løvås and Per M Thorsby

hormone profile and clinical phenotype (SW vs SV). In compound heterozygous cases, the mildest mutation defines the genotype group. The correlation between genotype and clinical phenotype in 21OHD is usually high, however, not 100% ( 22 ), which may be due

Open access

Ingeborg Brønstad, Lars Breivik, Paal Methlie, Anette S B Wolff, Eirik Bratland, Ingrid Nermoen, Kristian Løvås and Eystein S Husebye

located in the RCCX module of the HLA class III locus of chromosome 6 and share about 98% sequence homology. In general, there is a high correlation between the CYP21A2 genotype and the CAH phenotype (5, 6) . In addition to the pseudogene mutations

Open access

Dmitry M Davydov and Malik K Nurbekov

. Both authors read and approved the final version. Acknowledgements The authors thank Professor David Shapiro, UCLA, USA for help in the preparation of this manuscript. Accession code Phenotype and genotype data of the study have been

Open access

K L Gatford, G K Heinemann, S D Thompson, J V Zhang, S Buckberry, J A Owens, G A Dekker, C T Roberts and on behalf of the SCOPE Consortium

B Zheng H Yu H Chen K . Genotypes and phenotypes of IGF-I and IGFBP-3 in breast tumors among Chinese women . Breast Cancer Research and Treatment 2011 130 217 – 226 . ( doi:10.1007/s10549-011-1552-9 ). 27 de Alencar SA Lopes JCD

Open access

Hiren Patt, Katrin Koehler, Sailesh Lodha, Swati Jadhav, Chaitanya Yerawar, Angela Huebner, Kunal Thakkar, Sneha Arya, Sandhya Nair, Manjunath Goroshi, Hosahithlu Ganesh, Vijaya Sarathi, Anurag Lila, Tushar Bandgar and Nalini Shah

in AAAS gene. Phenotype–genotype correlation analysis To study phenotype–genotype correlation, patients (from both cohorts 1 and 2) were divided into two groups: Group T-patients with mutations resulting in truncating protein, and

Open access

Djeda Belharazem, Matthias Kirchner, Franziska Geissler, Peter Bugert, Martin Spahn, Burkhard Kneitz, Hubertus Riedmiller, Christian Sauer, Stefan Küffer, Lutz Trojan, Christian Bolenz, Maurice Stephan Michel, Alexander Marx and Philipp Ströbel

allelic frequencies between RPE patients and controls were statistically different ( P =0.02). Figure 2 Correlation between IGF2 820G/A allele status and age at tumor diagnosis in patients with a history of prostate cancer. Patients with an 820G/A genotype