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Showing 1 to 12 of 727 entries
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Recent genomic advances in schizophrenia.

Clinical genetics

Doherty JL, O'Donovan MC, Owen MJ.
PMID: 21895634
Clin Genet. 2012 Feb;81(2):103-9. doi: 10.1111/j.1399-0004.2011.01773.x. Epub 2011 Oct 05.

Recent studies have supported the hypothesis based upon expectations from population genetics that the high heritability of schizophrenia reflects a combination of relatively common alleles of small effect and rare alleles some with relatively large effects. Genome-wide association studies...

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Doherty JL, O'Donovan MC, Owen MJ. Recent genomic advances in schizophrenia. Clin Genet. 2011;81(2):103-9doi: 10.1111/j.1399-0004.2011.01773.x.
Doherty, J. L., O'Donovan, M. C., & Owen, M. J. (2012). Recent genomic advances in schizophrenia. Clinical genetics, 81(2), 103-9. https://doi.org/10.1111/j.1399-0004.2011.01773.x
Doherty, J L, et al. "Recent genomic advances in schizophrenia." Clinical genetics vol. 81,2 (2012): 103-9. doi: https://doi.org/10.1111/j.1399-0004.2011.01773.x
Doherty JL, O'Donovan MC, Owen MJ. Recent genomic advances in schizophrenia. Clin Genet. 2012 Feb;81(2):103-9. doi: 10.1111/j.1399-0004.2011.01773.x. Epub 2011 Oct 05. PMID: 21895634.
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Association of PPARγ2 gene variant Pro12Ala polymorphism with hypertension and obesity in the aboriginal Qatari population known for being consanguineous.

The application of clinical genetics

Bener A, Darwish S, Al-Hamaq AO, Mohammad RM, Yousafzai MT.
PMID: 24187509
Appl Clin Genet. 2013 Oct 24;6:103-11. doi: 10.2147/TACG.S49875. eCollection 2013.

AIM: The aim of this study was to investigate the association of the Pro12Ala polymorphism of the human peroxisome proliferator-activated receptor gamma 2 (PPARγ2) gene with hypertension and obesity in a highly consanguineous aboriginal Qatari population.DESIGN: A cross-sectional survey...

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Bener A, Darwish S, Al-Hamaq AO, et al. Association of PPARγ2 gene variant Pro12Ala polymorphism with hypertension and obesity in the aboriginal Qatari population known for being consanguineous. Appl Clin Genet. 2013;6:103-11doi: 10.2147/TACG.S49875.
Bener, A., Darwish, S., Al-Hamaq, A. O., Mohammad, R. M., & Yousafzai, M. T. (2013). Association of PPARγ2 gene variant Pro12Ala polymorphism with hypertension and obesity in the aboriginal Qatari population known for being consanguineous. The application of clinical genetics, 6103-11. https://doi.org/10.2147/TACG.S49875
Bener, Abdulbari, et al. "Association of PPARγ2 gene variant Pro12Ala polymorphism with hypertension and obesity in the aboriginal Qatari population known for being consanguineous." The application of clinical genetics vol. 6 (2013): 103-11. doi: https://doi.org/10.2147/TACG.S49875
Bener A, Darwish S, Al-Hamaq AO, Mohammad RM, Yousafzai MT. Association of PPARγ2 gene variant Pro12Ala polymorphism with hypertension and obesity in the aboriginal Qatari population known for being consanguineous. Appl Clin Genet. 2013 Oct 24;6:103-11. doi: 10.2147/TACG.S49875. eCollection 2013. PMID: 24187509; PMCID: PMC3811883.
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The association between vitamin D receptor gene polymorphisms (TaqI and FokI), Type 2 diabetes, and micro-/macrovascular complications in postmenopausal women.

The application of clinical genetics

Maia J, da Silva AS, do Carmo RF, de Mendonça TF, Griz LH, Moura P, Bandeira F.
PMID: 27536155
Appl Clin Genet. 2016 Aug 01;9:131-6. doi: 10.2147/TACG.S101410. eCollection 2016.

INTRODUCTION: Since there is evidence of the action of vitamin D as a modulator of insulin release and atherosclerosis, it may well be that the vitamin D receptor polymorphisms are associated with diabetes and its chronic complications.AIMS: To examine...

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Maia J, da Silva AS, do Carmo RF, et al. The association between vitamin D receptor gene polymorphisms (TaqI and FokI), Type 2 diabetes, and micro-/macrovascular complications in postmenopausal women. Appl Clin Genet. 2016;9:131-6doi: 10.2147/TACG.S101410.
Maia, J., da Silva, A. S., do Carmo, R. F., de Mendonça, T. F., Griz, L. H., Moura, P., & Bandeira, F. (2016). The association between vitamin D receptor gene polymorphisms (TaqI and FokI), Type 2 diabetes, and micro-/macrovascular complications in postmenopausal women. The application of clinical genetics, 9131-6. https://doi.org/10.2147/TACG.S101410
Maia, Juliana, et al. "The association between vitamin D receptor gene polymorphisms (TaqI and FokI), Type 2 diabetes, and micro-/macrovascular complications in postmenopausal women." The application of clinical genetics vol. 9 (2016): 131-6. doi: https://doi.org/10.2147/TACG.S101410
Maia J, da Silva AS, do Carmo RF, de Mendonça TF, Griz LH, Moura P, Bandeira F. The association between vitamin D receptor gene polymorphisms (TaqI and FokI), Type 2 diabetes, and micro-/macrovascular complications in postmenopausal women. Appl Clin Genet. 2016 Aug 01;9:131-6. doi: 10.2147/TACG.S101410. eCollection 2016. PMID: 27536155; PMCID: PMC4975152.
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An update of clinical management of acute intermittent porphyria.

The application of clinical genetics

Pischik E, Kauppinen R.
PMID: 26366103
Appl Clin Genet. 2015 Sep 01;8:201-14. doi: 10.2147/TACG.S48605. eCollection 2015.

Acute intermittent porphyria (AIP) is due to a deficiency of the third enzyme, the hydroxymethylbilane synthase, in heme biosynthesis. It manifests with occasional neuropsychiatric crises associated with overproduction of porphyrin precursors, aminolevulinic acid and porphobilinogen. The clinical criteria of...

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Pischik E, Kauppinen R. An update of clinical management of acute intermittent porphyria. Appl Clin Genet. 2015;8:201-14doi: 10.2147/TACG.S48605.
Pischik, E., & Kauppinen, R. (2015). An update of clinical management of acute intermittent porphyria. The application of clinical genetics, 8201-14. https://doi.org/10.2147/TACG.S48605
Pischik, Elena, and Kauppinen, Raili. "An update of clinical management of acute intermittent porphyria." The application of clinical genetics vol. 8 (2015): 201-14. doi: https://doi.org/10.2147/TACG.S48605
Pischik E, Kauppinen R. An update of clinical management of acute intermittent porphyria. Appl Clin Genet. 2015 Sep 01;8:201-14. doi: 10.2147/TACG.S48605. eCollection 2015. PMID: 26366103; PMCID: PMC4562648.
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Genomic-based tools for the risk assessment, management, and prevention of type 2 diabetes.

The application of clinical genetics

Johansen Taber KA, Dickinson BD.
PMID: 25609992
Appl Clin Genet. 2015 Jan 07;8:1-8. doi: 10.2147/TACG.S75583. eCollection 2015.

Type 2 diabetes (T2D) is a common and serious disorder and is a significant risk factor for the development of cardiovascular disease, neuropathy, nephropathy, retinopathy, periodontal disease, and foot ulcers and amputations. The burden of disease associated with T2D...

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Johansen Taber KA, Dickinson BD. Genomic-based tools for the risk assessment, management, and prevention of type 2 diabetes. Appl Clin Genet. 2015;8:1-8doi: 10.2147/TACG.S75583.
Johansen Taber, K. A., & Dickinson, B. D. (2015). Genomic-based tools for the risk assessment, management, and prevention of type 2 diabetes. The application of clinical genetics, 81-8. https://doi.org/10.2147/TACG.S75583
Johansen Taber, Katherine A, and Dickinson, Barry D. "Genomic-based tools for the risk assessment, management, and prevention of type 2 diabetes." The application of clinical genetics vol. 8 (2015): 1-8. doi: https://doi.org/10.2147/TACG.S75583
Johansen Taber KA, Dickinson BD. Genomic-based tools for the risk assessment, management, and prevention of type 2 diabetes. Appl Clin Genet. 2015 Jan 07;8:1-8. doi: 10.2147/TACG.S75583. eCollection 2015. PMID: 25609992; PMCID: PMC4293919.
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Genetics of Lafora progressive myoclonic epilepsy: current perspectives.

The application of clinical genetics

Kecmanović M, Keckarević-Marković M, Keckarević D, Stevanović G, Jović N, Romac S.
PMID: 27194917
Appl Clin Genet. 2016 May 02;9:49-53. doi: 10.2147/TACG.S57890. eCollection 2016.

Lafora disease (LD) is a fatal neurodegenerative disorder caused by loss-of-function mutations in either laforin glycogen phosphatase gene (EPM2A) or malin E3 ubiquitin ligase gene (NHLRC1). LD is associated with gradual accumulation of Lafora bodies (LBs). LBs are aggregates...

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Kecmanović M, Keckarević-Marković M, Keckarević D, et al. Genetics of Lafora progressive myoclonic epilepsy: current perspectives. Appl Clin Genet. 2016;9:49-53doi: 10.2147/TACG.S57890.
Kecmanović, M., Keckarević-Marković, M., Keckarević, D., Stevanović, G., Jović, N., & Romac, S. (2016). Genetics of Lafora progressive myoclonic epilepsy: current perspectives. The application of clinical genetics, 949-53. https://doi.org/10.2147/TACG.S57890
Kecmanović, Miljana, et al. "Genetics of Lafora progressive myoclonic epilepsy: current perspectives." The application of clinical genetics vol. 9 (2016): 49-53. doi: https://doi.org/10.2147/TACG.S57890
Kecmanović M, Keckarević-Marković M, Keckarević D, Stevanović G, Jović N, Romac S. Genetics of Lafora progressive myoclonic epilepsy: current perspectives. Appl Clin Genet. 2016 May 02;9:49-53. doi: 10.2147/TACG.S57890. eCollection 2016. PMID: 27194917; PMCID: PMC4859416.
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ALMS1 null mutations: a common cause of Leber congenital amaurosis and early-onset severe cone-rod dystrophy.

Clinical genetics

Xu Y, Guan L, Xiao X, Zhang J, Li S, Jiang H, Jia X, Yin Y, Guo X, Wang J, Zhang Q.
PMID: 26010121
Clin Genet. 2016 Apr;89(4):442-447. doi: 10.1111/cge.12617. Epub 2015 Jun 22.

In our previous studies, mutations in known candidate genes were detected in approximately 50% of Chinese patients with various forms of retinal degeneration. The next stage, identifying additional causative mutations in patients with various forms of genetic eye diseases...

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Xu Y, Guan L, Xiao X, et al. ALMS1 null mutations: a common cause of Leber congenital amaurosis and early-onset severe cone-rod dystrophy. Clin Genet. 2015;89(4):442-447doi: 10.1111/cge.12617.
Xu, Y., Guan, L., Xiao, X., Zhang, J., Li, S., Jiang, H., Jia, X., Yin, Y., Guo, X., Wang, J., & Zhang, Q. (2016). ALMS1 null mutations: a common cause of Leber congenital amaurosis and early-onset severe cone-rod dystrophy. Clinical genetics, 89(4), 442-447. https://doi.org/10.1111/cge.12617
Xu, Y, et al. "ALMS1 null mutations: a common cause of Leber congenital amaurosis and early-onset severe cone-rod dystrophy." Clinical genetics vol. 89,4 (2016): 442-447. doi: https://doi.org/10.1111/cge.12617
Xu Y, Guan L, Xiao X, Zhang J, Li S, Jiang H, Jia X, Yin Y, Guo X, Wang J, Zhang Q. ALMS1 null mutations: a common cause of Leber congenital amaurosis and early-onset severe cone-rod dystrophy. Clin Genet. 2016 Apr;89(4):442-447. doi: 10.1111/cge.12617. Epub 2015 Jun 22. PMID: 26010121.
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New insights into the genetic basis of infertility.

The application of clinical genetics

Venkatesh T, Suresh PS, Tsutsumi R.
PMID: 25506236
Appl Clin Genet. 2014 Dec 01;7:235-43. doi: 10.2147/TACG.S40809. eCollection 2014.

Infertility is a disease of the reproductive system characterized by inability to achieve pregnancy after 12 or more months of regular unprotected sexual intercourse. A variety of factors, including ovulation defects, spermatogenic failure, parental age, obesity, and infections have...

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Venkatesh T, Suresh PS, Tsutsumi R. New insights into the genetic basis of infertility. Appl Clin Genet. 2014;7:235-43doi: 10.2147/TACG.S40809.
Venkatesh, T., Suresh, P. S., & Tsutsumi, R. (2014). New insights into the genetic basis of infertility. The application of clinical genetics, 7235-43. https://doi.org/10.2147/TACG.S40809
Venkatesh, Thejaswini, et al. "New insights into the genetic basis of infertility." The application of clinical genetics vol. 7 (2014): 235-43. doi: https://doi.org/10.2147/TACG.S40809
Venkatesh T, Suresh PS, Tsutsumi R. New insights into the genetic basis of infertility. Appl Clin Genet. 2014 Dec 01;7:235-43. doi: 10.2147/TACG.S40809. eCollection 2014. PMID: 25506236; PMCID: PMC4259396.
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Angelman syndrome: review of clinical and molecular aspects.

The application of clinical genetics

Bird LM.
PMID: 24876791
Appl Clin Genet. 2014 May 16;7:93-104. doi: 10.2147/TACG.S57386. eCollection 2014.

"Angelman syndrome" (AS) is a neurodevelopmental disorder whose main features are intellectual disability, lack of speech, seizures, and a characteristic behavioral profile. The behavioral features of AS include a happy demeanor, easily provoked laughter, short attention span, hypermotoric behavior,...

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Bird LM. Angelman syndrome: review of clinical and molecular aspects. Appl Clin Genet. 2014;7:93-104doi: 10.2147/TACG.S57386.
Bird, L. M. (2014). Angelman syndrome: review of clinical and molecular aspects. The application of clinical genetics, 793-104. https://doi.org/10.2147/TACG.S57386
Bird, Lynne M. "Angelman syndrome: review of clinical and molecular aspects." The application of clinical genetics vol. 7 (2014): 93-104. doi: https://doi.org/10.2147/TACG.S57386
Bird LM. Angelman syndrome: review of clinical and molecular aspects. Appl Clin Genet. 2014 May 16;7:93-104. doi: 10.2147/TACG.S57386. eCollection 2014. PMID: 24876791; PMCID: PMC4036146.
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Overview of the genetic determinants of primary aldosteronism.

The application of clinical genetics

Al-Salameh A, Cohen R, Desailloud R.
PMID: 24817817
Appl Clin Genet. 2014 Apr 08;7:67-79. doi: 10.2147/TACG.S45620. eCollection 2014.

Primary aldosteronism is the most common cause of secondary hypertension. The syndrome accounts for 10% of all cases of hypertension and is primarily caused by bilateral adrenal hyperplasia or aldosterone-producing adenoma. Over the last few years, the use of...

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Al-Salameh A, Cohen R, Desailloud R. Overview of the genetic determinants of primary aldosteronism. Appl Clin Genet. 2014;7:67-79doi: 10.2147/TACG.S45620.
Al-Salameh, A., Cohen, R., & Desailloud, R. (2014). Overview of the genetic determinants of primary aldosteronism. The application of clinical genetics, 767-79. https://doi.org/10.2147/TACG.S45620
Al-Salameh, Abdallah, et al. "Overview of the genetic determinants of primary aldosteronism." The application of clinical genetics vol. 7 (2014): 67-79. doi: https://doi.org/10.2147/TACG.S45620
Al-Salameh A, Cohen R, Desailloud R. Overview of the genetic determinants of primary aldosteronism. Appl Clin Genet. 2014 Apr 08;7:67-79. doi: 10.2147/TACG.S45620. eCollection 2014. PMID: 24817817; PMCID: PMC4012345.
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Disease-modifying genes and monogenic disorders: experience in cystic fibrosis.

The application of clinical genetics

Gallati S.
PMID: 25053892
Appl Clin Genet. 2014 Jul 10;7:133-46. doi: 10.2147/TACG.S18675. eCollection 2014.

The mechanisms responsible for the determination of phenotypes are still not well understood; however, it has become apparent that modifier genes must play a considerable role in the phenotypic heterogeneity of Mendelian disorders. Significant advances in genetic technologies and...

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Gallati S. Disease-modifying genes and monogenic disorders: experience in cystic fibrosis. Appl Clin Genet. 2014;7:133-46doi: 10.2147/TACG.S18675.
Gallati, S. (2014). Disease-modifying genes and monogenic disorders: experience in cystic fibrosis. The application of clinical genetics, 7133-46. https://doi.org/10.2147/TACG.S18675
Gallati, Sabina. "Disease-modifying genes and monogenic disorders: experience in cystic fibrosis." The application of clinical genetics vol. 7 (2014): 133-46. doi: https://doi.org/10.2147/TACG.S18675
Gallati S. Disease-modifying genes and monogenic disorders: experience in cystic fibrosis. Appl Clin Genet. 2014 Jul 10;7:133-46. doi: 10.2147/TACG.S18675. eCollection 2014. PMID: 25053892; PMCID: PMC4104546.
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Candidate genes of idiopathic pulmonary fibrosis: current evidence and research.

The application of clinical genetics

Zhou W, Wang Y.
PMID: 26893575
Appl Clin Genet. 2016 Feb 02;9:5-13. doi: 10.2147/TACG.S61999. eCollection 2016.

Idiopathic pulmonary fibrosis (IPF) is a group of common and lethal forms of idiopathic interstitial pulmonary disease. IPF is characterized by a progressive decline in lung function with a median survival of 2-3 years after diagnosis. Although the pathogenesis...

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Zhou W, Wang Y. Candidate genes of idiopathic pulmonary fibrosis: current evidence and research. Appl Clin Genet. 2016;9:5-13doi: 10.2147/TACG.S61999.
Zhou, W., & Wang, Y. (2016). Candidate genes of idiopathic pulmonary fibrosis: current evidence and research. The application of clinical genetics, 95-13. https://doi.org/10.2147/TACG.S61999
Zhou, Wei, and Wang, Yaping. "Candidate genes of idiopathic pulmonary fibrosis: current evidence and research." The application of clinical genetics vol. 9 (2016): 5-13. doi: https://doi.org/10.2147/TACG.S61999
Zhou W, Wang Y. Candidate genes of idiopathic pulmonary fibrosis: current evidence and research. Appl Clin Genet. 2016 Feb 02;9:5-13. doi: 10.2147/TACG.S61999. eCollection 2016. PMID: 26893575; PMCID: PMC4745857.
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Showing 1 to 12 of 727 entries