PMC Articles for MedGen (Select 5527) - PMC

Eyal Simonovsky, Moran Sharon, Maya Ziv, Omry Mauer, Idan Hekselman, Juman Jubran, Ekaterina Vinogradov, Chanan M Argov, Omer Basha, Lior Kerber, Yuval Yogev, Ayellet V Segrè, Hae Kyung Im, GTEx Consortium, Ohad Birk, Lior Rokach, Esti Yeger‐Lotem

Mol Syst Biol. 2023 Aug; 19(8): e11407. Published online 2023 May 26. doi: 10.15252/msb.202211407

PMCID:: PMC10407743

Article PDF–3.6M

Select item 99170044.

SAV-Pred: A Freely Available Web Application for the Prediction of Pathogenic Amino Acid Substitutions for Monogenic Hereditary Diseases Studied in Newborn Screening

Anton D. Zadorozhny, Anastasia V. Rudik, Dmitry A. Filimonov, Alexey A. Lagunin

Int J Mol Sci. 2023 Feb; 24(3): 2463. Published online 2023 Jan 27. doi: 10.3390/ijms24032463

PMCID:: PMC9917004

Article PDF–1.1M

Select item 95018545.

Corrigendum: Epidemiology of rare hereditary diseases in the European part of Russia: Point and cumulative prevalence

Rena A. Zinchenko, Eugeny K. Ginter, Andrey V. Marakhonov, Nika V. Petrova, Vitaly V. Kadyshev, Tatyana P. Vasilyeva, Oksana U. Alexandrova, Alexander V. Polyakov, Sergey I. Kutsev

Front Genet. 2022; 13: 1019916. Published online 2022 Sep 9. doi: 10.3389/fgene.2022.1019916

Corrects:: Front Genet. 2021; 12: 678957.

PMCID:: PMC9501854

Correction PDF–477K

Select item 93806116.

Common and uncommon neuroimaging manifestations of ataxia: an illustrated guide for the trainee radiologist. Part 2 - neoplastic, congenital, degenerative, and hereditary diseases

Vinicius de Menezes Jarry, Fernanda Veloso Pereira, Mariana Dalaqua, Juliana Ávila Duarte, Marcondes Cavalcanti França Junior, Fabiano Reis

Radiol Bras. 2022 Jul-Aug; 55(4): 259–266. doi: 10.1590/0100-3984.2021.0112

PMCID:: PMC9380611

Article PDF–3.1M

Select item 90275137.

Connexin Mutations and Hereditary Diseases

Yue Qiu, Jianglin Zheng, Sen Chen, Yu Sun

Int J Mol Sci. 2022 Apr; 23(8): 4255. Published online 2022 Apr 12. doi: 10.3390/ijms23084255

PMCID:: PMC9027513

Article PDF–1.6M

Select item 88445438.

The knowledge, attitudes and practices regarding family history of hereditary diseases amongst undergraduate students at the University of the Free State

Lynette J. van der Merwe, Gaby Nel, Caitlin Williams, Swalica Erasmus, Riana Nel, Marize Kolver, Benine van den Heever, Gina Joubert

S Afr Fam Pract (2004) 2022; 64(1): 5392. Published online 2022 Jan 27. doi: 10.4102/safp.v64i1.5392

PMCID:: PMC8844543

Article PDF–705K

Select item 84357419.

Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence

Rena A. Zinchenko, Eugeny K. Ginter, Andrey V. Marakhonov, Nika V. Petrova, Vitaly V. Kadyshev, Tatyana P. Vasilyeva, Oksana U. Alexandrova, Alexander V. Polyakov, Sergey I. Kutsev

Front Genet. 2021; 12: 678957. Published online 2021 Aug 30. doi: 10.3389/fgene.2021.678957

Correction in:: Front Genet. 2022; 13: 1019916.

PMCID:: PMC8435741

Article PDF–1.7M

Select item 824196010.

Hereditary diseases and child wish: exploring motives, considerations, and the (joint) decision-making process of genetically at-risk couples

Y. Severijns, C. E. M. de Die-Smulders, T. Gültzow, H. de Vries, L. A. D. M. van Osch

J Community Genet. 2021 Jul; 12(3): 325–335. Published online 2021 Feb 20. doi: 10.1007/s12687-021-00510-x

PMCID:: PMC8241960

Article PDF–304K

Select item 811249811.

Investigations on the Occurrence of Hereditary Diseases in the Danish Cattle Population 1989-1991

J. S. Agerholm, A. Basse, K. Christensen

Acta Vet Scand. 1993; 34(3): 245–253. Published online 1993 Sep 1. doi: 10.1186/BF03548188

PMCID:: PMC8112498

Summary PDF–2.4M

Select item 698199412.

Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic

Rena A. Zinchenko, Amin Kh. Makaov, Andrey V. Marakhonov, Varvara A. Galkina, Vitaly V. Kadyshev, Galina I. El’chinova, Elena L. Dadali, Lyudmila K. Mikhailova, Nika V. Petrova, Nina E. Petrina, Tatyana A. Vasilyeva, Polina Gundorova, Alexander V. Polyakov, Oksana Y. Alexandrova, Sergey I. Kutsev, Eugeny K. Ginter

Int J Mol Sci. 2020 Jan; 21(1): 325. Published online 2020 Jan 3. doi: 10.3390/ijms21010325

PMCID:: PMC6981994

Article PDF–613K

Select item 645342913.

Late-onset Leber’s hereditary optic neuropathy: the role of environmental factors in hereditary diseases

Nuno Moura-Coelho, Rita Pinto Proença, Joana Tavares Ferreira, João Paulo Cunha

BMJ Case Rep. 2019; 12(3): e227977. Published online 2019 Mar 20. doi: 10.1136/bcr-2018-227977

PMCID:: PMC6453429

Article PDF–508K

Select item 641682914.

The role of long non-coding RNAs in the pathogenesis of hereditary diseases

Peter Sparber, Alexandra Filatova, Mira Khantemirova, Mikhail Skoblov

BMC Med Genomics. 2019; 12(Suppl 2): 42. Published online 2019 Mar 13. doi: 10.1186/s12920-019-0487-6

PMCID:: PMC6416829

Article PDF–1.4M

Select item 614616915.

Study of the genetic load and diversity of hereditary diseases in the Russian population of the Karachay-Cherkess Republic

Rena A Zinchenko, Vitaly V Kadyshev, Galina I El’chinova, Andrey V Marakhonov, Varvara A Galkina, Elena L Dadali, Olga V Khlebnikova, Lyudmila K Mikhailova, Nika V Petrova, Nina E Petrina, Tatyana A Vasilyeva, Polina Gundorova, Alexander S Tanas, Vladimir V Strelnikov, Alexander V Polyakov, Eugeny K Ginter

Int J Mol Epidemiol Genet. 2018; 9(4): 34–42. Published online 2018 Aug 20.

PMCID:: PMC6146169

Article PDF–609K

Select item 595347816.

Role of duplicate genes in determining the tissue-selectivity of hereditary diseases

Ruth Barshir, Idan Hekselman, Netta Shemesh, Moran Sharon, Lena Novack, Esti Yeger-Lotem

PLoS Genet. 2018 May; 14(5): e1007327. Published online 2018 May 3. doi: 10.1371/journal.pgen.1007327

PMCID:: PMC5953478

Article PDF–3.9M

Select item 430629017.

Corrigendum: Sleep and Sleep Disorders in Rare Hereditary Diseases: A Reminder for the Pediatrician, Pediatric and Adult Neurologist, General Practitioner, and Sleep Specialist

Natan Gadoth, Arie Oksenberg

Front Neurol. 2015; 6: 6. Published online 2015 Jan 26. doi: 10.3389/fneur.2015.00006

Corrects:: Front Neurol. 2014; 5: 133.

PMCID:: PMC4306290

Correction PDF–335K

Select item 427003318.

Development and preliminary testing of the psychosocial adjustment to hereditary diseases scale

Kathy E Watkins, Christine Y Way, Deborah M Gregory, Holly M LeDrew, Valerie C Ludlow, Mary Jane Esplen, Jeffrey J Dowden, Janet E Cox, G William N Fitzgerald, Patrick S Parfrey

BMC Psychol. 2013; 1(1): 7. Published online 2013 Apr 30. doi: 10.1186/2050-7283-1-7