Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants

Authors: Xicui Long, Wenyu Xiong, Xuegang Wang, Jia Geng, Mingjun Zhong, Yu Huang, Man Liu, Fengxiao Bu, Jing Cheng, Yu Lu, Huijun Yuan

Source: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-9 (2024)

Subject Terms: ABHD12, PHARC syndrome, Genotype-phenotype associations, Cochlear implant, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1755-8794

Access URL: https://doaj.org/article/e9a03254ab4e479e9ed0efd5ccfed104

Improving the classification of cardinality phenotypes using collections

Authors: Sarah M. Alghamdi, Robert Hoehndorf

Source: Journal of Biomedical Semantics, Vol 14, Iss 1, Pp 1-11 (2023)

Subject Terms: Cardinality phenotypes, Phenotype ontologies, Genotype–phenotype associations, Computer applications to medicine. Medical informatics, R858-859.7

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1480

Access URL: https://doaj.org/article/c2f6983072124d909fac203dab9ffd52

Genes underlying the evolution of tetrapod testes size

Authors: Joanna Baker, Andrew Meade, Chris Venditti

Source: BMC Biology, Vol 19, Iss 1, Pp 1-10 (2021)

Subject Terms: Testes size, Genotype-phenotype associations, Evolutionary rates, Phylogenetic comparative methods, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://doaj.org/toc/1741-7007

Access URL: https://doaj.org/article/70e800fe0503423fbbe68d407080bcc3

Tree-Level Growth Patterns and Genetic Associations Depict Drought Legacies in the Relict Forests of Abies marocana

Authors: Belén Méndez-Cea, Isabel García-García, Raúl Sánchez-Salguero, Víctor Lechuga, Francisco Javier Gallego, Juan C. Linares

Source: Plants, Vol 12, Iss 4, p 873 (2023)

Subject Terms: Abies marocana, drought sensitivity, tree age, selection signature, genotype–phenotype associations, dendrochronology, Botany, QK1-989

File Description: electronic resource

Relation: https://www.mdpi.com/2223-7747/12/4/873; https://doaj.org/toc/2223-7747

Access URL: https://doaj.org/article/764167b5b07a4910ba27ee4c3d8679ed

Is FMR1 CGG Repeat Number Polymorphism Associated With Phenotypic Variation in the General Population? Report From a Cohort of 5,499 Adults

Authors: Jinkuk Hong, Leann DaWalt, Mei Wang Baker, Elizabeth M. Berry-Kravis, Marsha R. Mailick

Source: Frontiers in Psychiatry, Vol 12 (2021)

Subject Terms: FMR1 CGG repeats, genotype-phenotype associations, genetic epidemiology, population cohorts, normal genetic variation, Psychiatry, RC435-571

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fpsyt.2021.727085/full; https://doaj.org/toc/1664-0640

Access URL: https://doaj.org/article/758cf89a24dc456b96f8cde21cea5133

Hypertension and the roles of the 9p21.3 risk locus: Classic findings and new association data

Authors: Juan E. Gallo, Juan E. Ochoa, Helen R. Warren, Elizabeth Misas, Monica M. Correa, Jaime A. Gallo-Villegas, Gabriel Bedoya, Dagnóvar Aristizábal, Juan G. McEwen, Mark J. Caulfield, Gianfranco Parati, Oliver K. Clay

Source: International Journal of Cardiology. Hypertension, Vol 7, Iss , Pp 100050- (2020)

Subject Terms: Genotype-phenotype associations, Blood pressure levels, Haplotypes, Diseases of the circulatory (Cardiovascular) system, RC666-701

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2590086220300276; https://doaj.org/toc/2590-0862

Access URL: https://doaj.org/article/d9a4aa8c1829439e9debc375e4b4bd72

FMR1 Low Zone CGG Repeats: Phenotypic Associations in the Context of Parenting Stress

Authors: Marsha R. Mailick, Jinkuk Hong, Leann Smith DaWalt, Jan S. Greenberg, Arezoo Movaghar, Mei Wang Baker, Paul J. Rathouz, Murray H. Brilliant

Source: Frontiers in Pediatrics, Vol 8 (2020)

Subject Terms: FMR1 CGG repeats, gene x environment interactions, stressful parenting, trinucleotide repeat disorders, low zone genotype-phenotype associations, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fped.2020.00223/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/94e54bc9129e4949a87b4b2c7a65bc38

Genotype–phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21‐hydroxylase deficiency

Authors: Chao Xu, Wenyu Jia, Xiangdeng Cheng, Hui Ying, Jing Chen, Jin Xu, Qingbo Guan, Xinli Zhou, Dongmei Zheng, Guimei Li, Jiajun Zhao

Source: Molecular Genetics & Genomic Medicine, Vol 7, Iss 6, Pp n/a-n/a (2019)

Subject Terms: congenital adrenal hyperplasia (CAH), CYP21A2, genotype–phenotype associations, mutation, steroid 21‐hydroxylase deficiency (21OHD), Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/54d1736e336a4672bb600dc5b9936ab9

Multidrug resistance 1 gene polymorphisms may determine Crohn's disease behavior in patients from Rio de Janeiro

Authors: Carvalho, Ana Teresa P., Fróes, Renata S.B., Esberard, Barbara C., Santos, Juliana C.V.C., Rapozo, Davy C. M., Grinman, Ana B., Simão, Tatiana A., Nicolau Neto, Pedro, Luiz, Ronir R., Carneiro, Antonio José V., Souza, Heitor S.P. de, Ribeiro-Pinto, Luis Felipe

Source: Clinics. January 2014 69(5)

Subject Terms: Multidrug Resistance 1 Gene, Inflammatory Bowel Disease, Crohn's Disease, Brazilian Population, Genotype-Phenotype Associations

File Description: text/html

Access URL: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322014000500327

Multidrug resistance 1 gene polymorphisms may determine Crohn's disease behavior in patients from Rio de Janeiro

Authors: Ana Teresa P. Carvalho, Renata S.B. Fróes, Barbara C. Esberard, Juliana C.V.C. Santos, Davy C. M. Rapozo, Ana B. Grinman, Tatiana A. Simão, Pedro Nicolau Neto, Ronir R. Luiz, Antonio José V. Carneiro, Heitor S.P. de Souza, Luis Felipe Ribeiro-Pinto

Source: Clinics, Vol 69, Iss 5, Pp 327-334 (2014)

Subject Terms: Multidrug Resistance 1 Gene, Inflammatory Bowel Disease, Crohn's Disease, Brazilian Population, Genotype-Phenotype Associations, Medicine (General), R5-920

File Description: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322014000500327&lng=en&tlng=en; https://doaj.org/toc/1980-5322

Access URL: https://doaj.org/article/0b6badcd798c44eba40c38ed3fe33036

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