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The .

Balkan journal of medical genetics : BJMG

Vučinić N, Stokić E, Djan I, Obreht D, Veličković N, Stankov K, Djan M.
PMID: 28924541
Balkan J Med Genet. 2017 Jun 30;20(1):51-58. doi: 10.1515/bjmg-2017-0004. eCollection 2017 Jun 30.

The determination of genetic background in metabolic syndrome (MetS) represents one of the necessary steps to prevent the disorder, thus reducing the cost of medical treatments and helping to design targeted therapy. The study explores the association between individual...

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Vučinić N, Stokić E, Djan I, et al. The . Balkan J Med Genet. 2017;20(1):51-58doi: 10.1515/bjmg-2017-0004.
Vučinić, N., Stokić, E., Djan, I., Obreht, D., Veličković, N., Stankov, K., & Djan, M. (2017). The . Balkan journal of medical genetics : BJMG, 20(1), 51-58. https://doi.org/10.1515/bjmg-2017-0004
Vučinić, N, et al. "The ." Balkan journal of medical genetics : BJMG vol. 20,1 (2017): 51-58. doi: https://doi.org/10.1515/bjmg-2017-0004
Vučinić N, Stokić E, Djan I, Obreht D, Veličković N, Stankov K, Djan M. The . Balkan J Med Genet. 2017 Jun 30;20(1):51-58. doi: 10.1515/bjmg-2017-0004. eCollection 2017 Jun 30. PMID: 28924541; PMCID: PMC5596822.
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Association of the .

Balkan journal of medical genetics : BJMG

Bora K, Pathak MS, Borah P, Hussain MI, Das D.
PMID: 28924542
Balkan J Med Genet. 2017 Jun 30;20(1):59-70. doi: 10.1515/bjmg-2017-0002. eCollection 2017 Jun 30.

Cardiovascular disease (CVD) risk factors, and particularly decreased high density lipoprotein cholesterol (HDL-C) dyslipidemia are prevalent in Assam, India. This study was undertaken to investigate whether

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Bora K, Pathak MS, Borah P, et al. Association of the . Balkan J Med Genet. 2017;20(1):59-70doi: 10.1515/bjmg-2017-0002.
Bora, K., Pathak, M. S., Borah, P., Hussain, M. I., & Das, D. (2017). Association of the . Balkan journal of medical genetics : BJMG, 20(1), 59-70. https://doi.org/10.1515/bjmg-2017-0002
Bora, K, et al. "Association of the ." Balkan journal of medical genetics : BJMG vol. 20,1 (2017): 59-70. doi: https://doi.org/10.1515/bjmg-2017-0002
Bora K, Pathak MS, Borah P, Hussain MI, Das D. Association of the . Balkan J Med Genet. 2017 Jun 30;20(1):59-70. doi: 10.1515/bjmg-2017-0002. eCollection 2017 Jun 30. PMID: 28924542; PMCID: PMC5596823.
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Corrigendum to "Having a son or daughter with Down syndrome: Perspectives from mothers and fathers. Am J Med Genet Part A 155:2335-2347.".

American journal of medical genetics. Part A

Skotko BG, Levine SP, Goldstein R.
PMID: 28421701
Am J Med Genet A. 2017 May;173(5):1453. doi: 10.1002/ajmg.a.38185. Epub 2017 Feb 16.

No abstract available.

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Skotko BG, Levine SP, Goldstein R. Corrigendum to "Having a son or daughter with Down syndrome: Perspectives from mothers and fathers. Am J Med Genet Part A 155:2335-2347.". Am J Med Genet A. 2017;173(5):1453doi: 10.1002/ajmg.a.38185.
Skotko, B. G., Levine, S. P., & Goldstein, R. (2017). Corrigendum to "Having a son or daughter with Down syndrome: Perspectives from mothers and fathers. Am J Med Genet Part A 155:2335-2347.". American journal of medical genetics. Part A, 173(5), 1453. https://doi.org/10.1002/ajmg.a.38185
Skotko, Brian G, et al. "Corrigendum to "Having a son or daughter with Down syndrome: Perspectives from mothers and fathers. Am J Med Genet Part A 155:2335-2347."." American journal of medical genetics. Part A vol. 173,5 (2017): 1453. doi: https://doi.org/10.1002/ajmg.a.38185
Skotko BG, Levine SP, Goldstein R. Corrigendum to "Having a son or daughter with Down syndrome: Perspectives from mothers and fathers. Am J Med Genet Part A 155:2335-2347.". Am J Med Genet A. 2017 May;173(5):1453. doi: 10.1002/ajmg.a.38185. Epub 2017 Feb 16. PMID: 28421701.
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Erratum: .

Journal of medical genetics

[No authors listed]
PMID: 28947560
J Med Genet. 2017 Nov;54(11):786. doi: 10.1136/jmedgenet-2016-103956corr1. Epub 2017 Sep 25.

No abstract available.

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Erratum: . J Med Genet. 2017;54(11):786doi: 10.1136/jmedgenet-2016-103956corr1.
(2017). Erratum: . Journal of medical genetics, 54(11), 786. https://doi.org/10.1136/jmedgenet-2016-103956corr1
"Erratum: ." Journal of medical genetics vol. 54,11 (2017): 786. doi: https://doi.org/10.1136/jmedgenet-2016-103956corr1
Erratum: . J Med Genet. 2017 Nov;54(11):786. doi: 10.1136/jmedgenet-2016-103956corr1. Epub 2017 Sep 25. PMID: 28947560.
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Response to: Toriello et al., "Update on the Toriello-Carey Syndrome." Further delineation of a young woman with deletion 1q42.12-q42.2.

American journal of medical genetics. Part A

Garza-Flores A, Hawley P, Picker J, Tannebring E, Deardorff MA, Lin AE.
PMID: 28447379
Am J Med Genet A. 2017 Jul;173(7):1988-1991. doi: 10.1002/ajmg.a.38203. Epub 2017 Apr 26.

No abstract available.

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Garza-Flores A, Hawley P, Picker J, et al. Response to: Toriello et al., "Update on the Toriello-Carey Syndrome." Further delineation of a young woman with deletion 1q42.12-q42.2. Am J Med Genet A. 2017;173(7):1988-1991doi: 10.1002/ajmg.a.38203.
Garza-Flores, A., Hawley, P., Picker, J., Tannebring, E., Deardorff, M. A., & Lin, A. E. (2017). Response to: Toriello et al., "Update on the Toriello-Carey Syndrome." Further delineation of a young woman with deletion 1q42.12-q42.2. American journal of medical genetics. Part A, 173(7), 1988-1991. https://doi.org/10.1002/ajmg.a.38203
Garza-Flores, Alexandra, et al. "Response to: Toriello et al., "Update on the Toriello-Carey Syndrome." Further delineation of a young woman with deletion 1q42.12-q42.2." American journal of medical genetics. Part A vol. 173,7 (2017): 1988-1991. doi: https://doi.org/10.1002/ajmg.a.38203
Garza-Flores A, Hawley P, Picker J, Tannebring E, Deardorff MA, Lin AE. Response to: Toriello et al., "Update on the Toriello-Carey Syndrome." Further delineation of a young woman with deletion 1q42.12-q42.2. Am J Med Genet A. 2017 Jul;173(7):1988-1991. doi: 10.1002/ajmg.a.38203. Epub 2017 Apr 26. PMID: 28447379.
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Incidence, puberty, and fertility in 45,X/47,XXX mosaicism: Report of a patient and a literature review.

American journal of medical genetics. Part A

Lim HH, Kil HR, Koo SH.
PMID: 28485514
Am J Med Genet A. 2017 Jul;173(7):1961-1964. doi: 10.1002/ajmg.a.38276. Epub 2017 May 09.

Turner syndrome (TS), characterized by short stature and premature ovarian failure, is caused by chromosomal aberrations with total or partial loss of one of the two X chromosomes. Spontaneous puberty, menarche, and pregnancy occur in some patients depending on...

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Lim HH, Kil HR, Koo SH. Incidence, puberty, and fertility in 45,X/47,XXX mosaicism: Report of a patient and a literature review. Am J Med Genet A. 2017;173(7):1961-1964doi: 10.1002/ajmg.a.38276.
Lim, H. H., Kil, H. R., & Koo, S. H. (2017). Incidence, puberty, and fertility in 45,X/47,XXX mosaicism: Report of a patient and a literature review. American journal of medical genetics. Part A, 173(7), 1961-1964. https://doi.org/10.1002/ajmg.a.38276
Lim, Han Hyuk, et al. "Incidence, puberty, and fertility in 45,X/47,XXX mosaicism: Report of a patient and a literature review." American journal of medical genetics. Part A vol. 173,7 (2017): 1961-1964. doi: https://doi.org/10.1002/ajmg.a.38276
Lim HH, Kil HR, Koo SH. Incidence, puberty, and fertility in 45,X/47,XXX mosaicism: Report of a patient and a literature review. Am J Med Genet A. 2017 Jul;173(7):1961-1964. doi: 10.1002/ajmg.a.38276. Epub 2017 May 09. PMID: 28485514.
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Genetic risk variants for social anxiety.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

Stein MB, Chen CY, Jain S, Jensen KP, He F, Heeringa SG, Kessler RC, Maihofer A, Nock MK, Ripke S, Sun X, Thomas ML, Ursano RJ, Smoller JW, Gelernter J.
PMID: 28512750
Am J Med Genet B Neuropsychiatr Genet. 2017 Jun;174(4):470-482. doi: 10.1002/ajmg.b.32541. Epub 2017 Apr 27.

No abstract available.

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Stein MB, Chen CY, Jain S, et al. Genetic risk variants for social anxiety. Am J Med Genet B Neuropsychiatr Genet. 2017;174(4):470-482doi: 10.1002/ajmg.b.32541.
Stein, M. B., Chen, C. Y., Jain, S., Jensen, K. P., He, F., Heeringa, S. G., Kessler, R. C., Maihofer, A., Nock, M. K., Ripke, S., Sun, X., Thomas, M. L., Ursano, R. J., Smoller, J. W., Gelernter, J. (2017). Genetic risk variants for social anxiety. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 174(4), 470-482. https://doi.org/10.1002/ajmg.b.32541
Stein, Murray B, et al. "Genetic risk variants for social anxiety." American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics vol. 174,4 (2017): 470-482. doi: https://doi.org/10.1002/ajmg.b.32541
Stein MB, Chen CY, Jain S, Jensen KP, He F, Heeringa SG, Kessler RC, Maihofer A, Nock MK, Ripke S, Sun X, Thomas ML, Ursano RJ, Smoller JW, Gelernter J. Genetic risk variants for social anxiety. Am J Med Genet B Neuropsychiatr Genet. 2017 Jun;174(4):470-482. doi: 10.1002/ajmg.b.32541. Epub 2017 Apr 27. PMID: 28512750.
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Correction.

Journal of medical genetics

[No authors listed]
PMID: 25601992
J Med Genet. 2015 Feb;52(2):144. doi: 10.1136/jmedgenet-2014-102732corr1.

No abstract available.

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Correction. J Med Genet. 2015;52(2):144doi: 10.1136/jmedgenet-2014-102732corr1.
(2015). Correction. Journal of medical genetics, 52(2), 144. https://doi.org/10.1136/jmedgenet-2014-102732corr1
"Correction." Journal of medical genetics vol. 52,2 (2015): 144. doi: https://doi.org/10.1136/jmedgenet-2014-102732corr1
Correction. J Med Genet. 2015 Feb;52(2):144. doi: 10.1136/jmedgenet-2014-102732corr1. PMID: 25601992.
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Mutation in .

World journal of medical genetics

Kaufman CS, Butler MG.
PMID: 28344932
World J Med Genet. 2016 May 27;6(2):17-21. doi: 10.5496/wjmg.v6.i2.17.

We report a 28-year-old female who presented with severe joint pain, chronic muscle weakness, Raynaud's phenomenon, and hypermobility. She was found to have a 6074A > T nucleotide transition in the

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Kaufman CS, Butler MG. Mutation in . World J Med Genet. 2016;6(2):17-21doi: 10.5496/wjmg.v6.i2.17.
Kaufman, C. S., & Butler, M. G. (2016). Mutation in . World journal of medical genetics, 6(2), 17-21. https://doi.org/10.5496/wjmg.v6.i2.17
Kaufman, Carolyn S, and Butler, Merlin G. "Mutation in ." World journal of medical genetics vol. 6,2 (2016): 17-21. doi: https://doi.org/10.5496/wjmg.v6.i2.17
Kaufman CS, Butler MG. Mutation in . World J Med Genet. 2016 May 27;6(2):17-21. doi: 10.5496/wjmg.v6.i2.17. PMID: 28344932; PMCID: PMC5363719.
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Dopamine receptor DRD4 gene and stressful life events in persistent attention deficit hyperactivity disorder.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

Sánchez-Mora C, Richarte V, Garcia-Martínez I, Pagerols M, Corrales M, Bosch R, Vidal R, Viladevall L, Casas M, Cormand B, Ramos-Quiroga JA, Ribasés M.
PMID: 26174753
Am J Med Genet B Neuropsychiatr Genet. 2015 Sep;168(6):480-491. doi: 10.1002/ajmg.b.32340. Epub 2015 Jul 14.

We performed a case-control association study in persistent ADHD considering eight candidate genes (DRD4, DAT1/SLC6A3, COMT, ADRA2A, CES1, CYP2D6, LPHN3, and OPRM1) and found additional evidence for the involvement of the Dup 120bp and VNTR 48bp functional variants within...

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Sánchez-Mora C, Richarte V, Garcia-Martínez I, et al. Dopamine receptor DRD4 gene and stressful life events in persistent attention deficit hyperactivity disorder. Am J Med Genet B Neuropsychiatr Genet. 2015;168(6):480-491doi: 10.1002/ajmg.b.32340.
Sánchez-Mora, C., Richarte, V., Garcia-Martínez, I., Pagerols, M., Corrales, M., Bosch, R., Vidal, R., Viladevall, L., Casas, M., Cormand, B., Ramos-Quiroga, J. A., & Ribasés, M. (2015). Dopamine receptor DRD4 gene and stressful life events in persistent attention deficit hyperactivity disorder. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 168(6), 480-491. https://doi.org/10.1002/ajmg.b.32340
Sánchez-Mora, Cristina, et al. "Dopamine receptor DRD4 gene and stressful life events in persistent attention deficit hyperactivity disorder." American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics vol. 168,6 (2015): 480-491. doi: https://doi.org/10.1002/ajmg.b.32340
Sánchez-Mora C, Richarte V, Garcia-Martínez I, Pagerols M, Corrales M, Bosch R, Vidal R, Viladevall L, Casas M, Cormand B, Ramos-Quiroga JA, Ribasés M. Dopamine receptor DRD4 gene and stressful life events in persistent attention deficit hyperactivity disorder. Am J Med Genet B Neuropsychiatr Genet. 2015 Sep;168(6):480-491. doi: 10.1002/ajmg.b.32340. Epub 2015 Jul 14. PMID: 26174753.
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Polymorphism of the .

Balkan journal of medical genetics : BJMG

Krsteski J, Jurgec S, Pakiž M, But I, Potočnik U.
PMID: 28289589
Balkan J Med Genet. 2017 Mar 08;19(2):51-60. doi: 10.1515/bjmg-2016-0036. eCollection 2016 Dec 01.

Uterine leiomyomas (ULM) are a common cause of solid pelvic tumors in women. Their etiopathogenesis remains unclear. Interleukins (ILs) and their receptors can influence tumor biology of ULM. The aim of this study was to evaluate single nucleotide polymorphisms...

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Krsteski J, Jurgec S, Pakiž M, et al. Polymorphism of the . Balkan J Med Genet. 2017;19(2):51-60doi: 10.1515/bjmg-2016-0036.
Krsteski, J., Jurgec, S., Pakiž, M., But, I., & Potočnik, U. (2016). Polymorphism of the . Balkan journal of medical genetics : BJMG, 19(2), 51-60. https://doi.org/10.1515/bjmg-2016-0036
Krsteski, J, et al. "Polymorphism of the ." Balkan journal of medical genetics : BJMG vol. 19,2 (2016): 51-60. doi: https://doi.org/10.1515/bjmg-2016-0036
Krsteski J, Jurgec S, Pakiž M, But I, Potočnik U. Polymorphism of the . Balkan J Med Genet. 2017 Mar 08;19(2):51-60. doi: 10.1515/bjmg-2016-0036. eCollection 2016 Dec 01. PMID: 28289589; PMCID: PMC5343331.
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Microarray technology reveals potentially novel genes and pathways involved in non-functioning pituitary adenomas.

Balkan journal of medical genetics : BJMG

Qiao X, Wang H, Wang X, Zhao B, Liu J.
PMID: 28289583
Balkan J Med Genet. 2017 Mar 09;19(2):5-16. doi: 10.1515/bjmg-2016-0030. eCollection 2016 Dec 01.

Microarray data of non-functioning pituitary adenomas (NFPAs) were analyzed to disclose novel genes and pathways involved in NFPA tumorigenesis. Raw microarray data were downloaded from Gene Expression Omnibus. Data pre-treatment and differential analysis were conducted using packages in

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Qiao X, Wang H, Wang X, et al. Microarray technology reveals potentially novel genes and pathways involved in non-functioning pituitary adenomas. Balkan J Med Genet. 2017;19(2):5-16doi: 10.1515/bjmg-2016-0030.
Qiao, X., Wang, H., Wang, X., Zhao, B., & Liu, J. (2016). Microarray technology reveals potentially novel genes and pathways involved in non-functioning pituitary adenomas. Balkan journal of medical genetics : BJMG, 19(2), 5-16. https://doi.org/10.1515/bjmg-2016-0030
Qiao, X, et al. "Microarray technology reveals potentially novel genes and pathways involved in non-functioning pituitary adenomas." Balkan journal of medical genetics : BJMG vol. 19,2 (2016): 5-16. doi: https://doi.org/10.1515/bjmg-2016-0030
Qiao X, Wang H, Wang X, Zhao B, Liu J. Microarray technology reveals potentially novel genes and pathways involved in non-functioning pituitary adenomas. Balkan J Med Genet. 2017 Mar 09;19(2):5-16. doi: 10.1515/bjmg-2016-0030. eCollection 2016 Dec 01. PMID: 28289583; PMCID: PMC5343325.
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Showing 1 to 12 of 1718 entries