Results 11 to 20 of about 58,360 (267)

Genotype-phenotype correlations in FSHD [PDF]

BMC Medical Genomics, 2019
Facial-scapular-humeral myodystrophy Landouzy-Dejerine (FSHD) is an autosomal dominant disease, the basis of its pathogenesis is ectopic expression of the transcription factor DUX4 in skeletal muscle. There are two types of the disease: FSHD1 (MIM:158900) and FSHD2 (MIM: 158901), which have different genetic causes but are phenotypically ...
Nikolay Zernov, Mikhail Skoblov
openaire   +3 more sources

Genotype–phenotype correlations in recessive titinopathies [PDF]

Genetics in Medicine, 2020
High throughput sequencing analysis has facilitated the rapid analysis of the entire titin (TTN) coding sequence. This has resulted in the identification of a growing number of recessive titinopathy patients. The aim of this study was to (1) characterize the causative genetic variants and clinical features of the largest cohort of recessive titinopathy
Savarese, Marco, Vihola, Anna, Oates, Emily C., Barresi, Rita, Fiorillo, Chiara, Tasca, Giorgio, Jokela, Manu, Sarkozy, Anna, Luo, Sushan, Diaz-Manera, Jordi, Ehrstedt, Christoffer, Rojas-Garcia, Ricardo, Saenz, Amets, Muelas, Nuria, Lonardo, Fortunato, Fodstad, Heidi, Qureshi, Talha, Johari, Mridul, Valipakka, Salla, Luque, Helena, Petiot, Philippe, de Munain, Adolfo Lopez, Pane, Marika, Mercuri, Eugenio, Torella, Annalaura, Nigro, Vincenzo, Astrea, Guja, Santorelli, Filippo Maria, Bruno, Claudio, Kuntzer, Thierry, Illa, Isabel, Vilchez, Juan J., Julien, Cedric, Ferreiro, Ana, Malandrini, Alessandro, Zhao, Chong-Bo, Casar-Borota, Olivera, Davis, Mark, Muntoni, Francesco, Hackman, Peter, Udd, Bjarne   +40 more
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Correlated genotypes in friendship networks [PDF]

Proceedings of the National Academy of Sciences, 2011
It is well known that humans tend to associate with other humans who have similar characteristics, but it is unclear whether this tendency has consequences for the distribution of genotypes in a population. Although geneticists have shown that populations tend to stratify genetically, this process results from geographic sorting or
James H, Fowler, Jaime E, Settle, Nicholas A, Christakis   +2 more
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Correlations of genotype and phenotype in hypophosphatasia [PDF]

Human Molecular Genetics, 1999
Hypophosphatasia, a rare inherited disorder characterized by defective bone mineralization, is highly variable in its clinical expression. The disease is due to various mutations in the tissue-non-specific alkaline phosphatase ( TNSALP ) gene. We report here the use of clinical data, site-directed mutagenesis and computer-assisted modelling to propose ...
Zurutuza, L., Muller, F., Gibrat, Jean-François, Taillandier, A., Serre, J.L., Mornet, Etienne, Simon-Bouy, B.   +6 more
openaire   +3 more sources

PAX6 mutations: genotype-phenotype correlations [PDF]

BMC Genetics, 2005
Abstract Background The PAX6 protein is a highly conserved transcriptional regulator that is important for normal ocular and neural development. In humans, heterozygous mutations of the PAX6 gene cause aniridia (absence of the iris) and related developmental eye diseases.
Tzoulaki, I., White, I. M., Hanson, I. M.   +2 more
openaire   +4 more sources

Genotype-phenotype correlation in pseudoxanthoma elasticum [PDF]

Atherosclerosis, 2021
Pseudoxanthoma elasticum (PXE) is caused by variants in the ABCC6 gene. It results in calcification in the skin, peripheral arteries and the eyes, but has considerable phenotypic variability. We investigated the association between the ABCC6 genotype and calcification and clinical phenotypes in these different organs.ABCC6 sequencing was performed in ...
Jonas W. Bartstra, Sara Risseeuw, Pim A. de Jong, Bram van Os, Lianne Kalsbeek, Chris Mol, Annette F. Baas, Shana Verschuere, Olivier Vanakker, Ralph J. Florijn, Jeroen Hendrikse, Willem Mali, Saskia Imhof, Jeannette Ossewaarde-van Norel, Redmer van Leeuwen, Wilko Spiering   +15 more
openaire   +4 more sources

Genotype–Phenotype Correlations in Angelman Syndrome [PDF]

Genes, 2021
Angelman syndrome (AS) is a rare neurodevelopmental disease that is caused by the loss of function of the maternal copy of ubiquitin–protein ligase E3A (UBE3A) on the chromosome 15q11–13 region. AS is characterized by global developmental delay, severe intellectual disability, lack of speech, happy disposition, ataxia, epilepsy, and distinct behavioral
Yang, Lili, Shu, Xiaoli, Mao, Shujiong, Wang, Yi, Du, Xiaonan, Zou, Chaochun   +5 more
openaire   +2 more sources

Evaluation of some Genotypes under Water Stress for some Yield and Fiber Quality Properties in Cotton (Gossypium barbadense L.) [PDF]

Journal of Plant Production, 2018
The objective of this study was to evaluate some genotypes under well irrigated compared with water stress conditions. The important results were as follows. Analysis of variance due to line x tester and combining ability for yield and fiber quality were
M. EL-Shazly, Y. EL-Mansy, M. Ghoneima, M. Abdel-Monaem   +3 more
doaj   +1 more source

Correlation and path coefficient analysis of polygenic traits of upland cotton genotypes grown in Zimbabwe

Cogent Food & Agriculture, 2020
Cotton is a very important crop that consists of traits with different associationship due to genetic and environmental factors. In order to determine the degree of association between seed cotton yield and important traits, a study was done using an ...
B. Chapepa, W. Mubvekeri, M. Mare, D. Kutywayo   +3 more
doaj   +1 more source

Path analysis in the evaluation of ethanol and culm yield components in sweet sorghum

Pesquisa Agropecuária Tropical, 2022
Path analysis is a methodology able of splitting the correlation coefficients into direct and indirect effects, helping the breeder in the study of quantitative traits.
Letícia Ferreira Vieira, José Wilson da Silva, Maxwel Rodrigues Nascimento, Paulo Ricardo dos Santos, Danilo Força Baroni   +4 more
doaj   +1 more source