Results 11 to 20 of about 536,745 (332)

THAP1 mutations and dystonia phenotypes: Genotype phenotype correlations [PDF]

Movement Disorders, 2012
AbstractTHAP1 mutations have been shown to be the cause of DYT6. A number of different mutation types and locations in the THAP1 gene have been associated with a range of severity and dystonia phenotypes, but, as yet, it has been difficult to identify clear genotype phenotype patterns.
Xiromerisiou, G., Houlden, H., Scarmeas, N., Stamelou, M., Kara, E., Hardy, J., Lees, A.J., Korlipara, P., Limousin, P., Paudel, R., Hadjigeorgiou, G.M., Bhatia, K.P.   +11 more
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
openaire   +9 more sources

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

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

Host response to successive challenges with lentogenic and velogenic Newcastle disease virus in local chickens of Ghana

Poultry Science, 2022
: Newcastle disease (ND) is a highly contagious viral disease that constantly threatens poultry production. The velogenic (highly virulent) form of ND inflicts the most damage and can lead to 100% mortality in unvaccinated village chicken flocks.
P.K. Botchway, E.N. Amuzu-Aweh, A. Naazie, G.K. Aning, H.R. Otsyina, P. Saelao, Y. Wang, H. Zhou, M. Walugembe, J. Dekkers, S.J. Lamont, R.A. Gallardo, T.R. Kelly, D. Bunn, B.B. Kayang   +14 more
doaj   +1 more source

Relationship between Milk Yield and Udder Morphology Traits in White Fulani Cows

Dairy, 2023
The study examined the relationship between milk yield and udder morphology traits in White Fulani cows. Fifty-eight apparently healthy cows in early lactation at 2nd, 3rd, and 4th parity were used in the study.
Oladipupo Ridwan Bello, Adebowale Emmanuel Salako, Adebayo Samson Akinade, Maaruf Yakub   +3 more
doaj   +1 more source

The estimation of genetic parameters for growth curve traits in Raeini Cashmere goat described by Gompertz model [PDF]

, 2018
The objectives of this study were to describe growth curve of Raeini Cashmere goat applying the Gompertz growth model and genetic evaluation of growth curve-related traits including model parameters of A, B and K, inflection age (IA) and inflection ...
Ghiasi, Heydar, Lupi, T.M., Mokhtari, M.S.   +2 more
core   +1 more source

Correlation studies on yield and yield components in brinjal (Solanum melongena L.)

Electronic Journal of Plant Breeding, 2020
An experiment on correlation analysis involving brinjal (Solanum melongena L.) was carried during rabi 2018 at college orchard, Tamil Nadu Agricultural University, Coimbatore, Tamil Nadu, India. Genotypic correlation coefficient was similar in nature and
P. Irene Vethamonai, D. Rameshkumar and R. Ravikesavan
doaj   +1 more source

A dynamic network approach for the study of human phenotypes [PDF]

, 2009
The use of networks to integrate different genetic, proteomic, and metabolic datasets has been proposed as a viable path toward elucidating the origins of specific diseases.
A Barrat, A Hinks, A Rzhetsky, AB Begovich, AJ Lusis, Albert-László Barabási, C Benesch, CA Hidalgo, CA Hidalgo, César A. Hidalgo, D Lauderdale, DS Lee, GS Cooper, H Goehler, I Feldman, J Hatten, J Kobberling, J Lim, J Zhang, JB Mitchell, JF Rual, K-I Goh, Lauren Ancel Meyers, LI Iezzoni, MA Pujana, MC Oldham, N Craddock, Nicholas A. Christakis, Nicholas Blumm, P McGuffin, P Wordsworth, S Schneeweiss, SE Ahnert, SE Calvano, SF Grant, U Stelzl   +35 more
core   +5 more sources

Correlation analysis of the transcriptome of growing leaves with mature leaf parameters in a maize RIL population [PDF]

, 2015
Background: To sustain the global requirements for food and renewable resources, unraveling the molecular networks underlying plant growth is becoming pivotal.
Baute, Joke, Coppens, Frederik, De Block, Jolien, Dell'Acqua, Matteo, Herman, Dorota, Inzé, Dirk, Maere, Steven, Nelissen, Hilde, Pè, Mario Enrico, Slabbinck, Bram   +9 more
core   +2 more sources