The Application of Clinical Genetics, Volume 7, Issue (2014)

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The Application of Clinical Genetics, Volume 7, Issue (2014)

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Review

Review Article
Gene mutations that promote adrenal aldosterone production, sodium retention, and hypertension
Andreas G Moraitis, William E Rainey & Richard J Auchus
Pages: 1-13
Published online: 24 Dec 2013
AbstractforGene mutations that promote adrenal aldosterone production, sodium retention, and hypertension | Full Text | References | PDF (349.1 KB)
  • 66 Views
  • 1 CrossRef citations
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Open Access
Review Article
Pathogenesis of coronary artery disease: focus on genetic risk factors and identification of genetic variants
Sergi Sayols-Baixeras, Carla Lluís-Ganella, Gavin Lucas & Roberto Elosua
Pages: 15-32
Published online: 16 Jan 2014
AbstractforPathogenesis of coronary artery disease: focus on genetic risk factors and identification of genetic variants | Full Text | References | PDF (579 KB)
  • 674 Views
  • 24 CrossRef citations
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Open Access
Review Article
Genetics of bipolar disorder
Berit Kerner
Pages: 33-42
Published online: 12 Feb 2014
AbstractforGenetics of bipolar disorder | Full Text | References | PDF (307.3 KB)
  • 2669 Views
  • 74 CrossRef citations
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Open Access
Review Article
Hypothesis of the neuroendocrine cortisol pathway gene role in the comorbidity of depression, type 2 diabetes, and metabolic syndrome
Claudia Gragnoli
Pages: 43-53
Published online: 01 Apr 2014
AbstractforHypothesis of the neuroendocrine cortisol pathway gene role in the comorbidity of depression, type 2 diabetes, and metabolic syndrome | Full Text | References | PDF (293.7 KB)
  • 287 Views
  • 51 CrossRef citations
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Open Access
Review Article
Wiskott–Aldrich syndrome: diagnosis, current management, and emerging treatments
David Buchbinder, Diane J Nugent & Alexandra H Fillipovich
Pages: 55-66
Published online: 03 Apr 2014
AbstractforWiskott–Aldrich syndrome: diagnosis, current management, and emerging treatments | Full Text | References | PDF (314.5 KB)
  • 359 Views
  • 96 CrossRef citations
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Open Access
Review Article
Overview of the genetic determinants of primary aldosteronism
Abdallah Al-Salameh, Régis Cohen & Rachel Desailloud
Pages: 67-79
Published online: 26 Dec 2022
AbstractforOverview of the genetic determinants of primary aldosteronism | Full Text | References | PDF (2.5 MB)
  • 71 Views
  • 13 CrossRef citations
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Open Access
Review Article
Influence of oncogenic transcription factors on chromatin conformation and implications in prostate cancer
Yeqing Angela Yang, Jung Kim & Jindan Yu
Pages: 81-91
Published online: 26 Dec 2022
AbstractforInfluence of oncogenic transcription factors on chromatin conformation and implications in prostate cancer | Full Text | References | PDF (392.1 KB)
  • 61 Views
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Open Access
Review Article
Angelman syndrome: review of clinical and molecular aspects
Lynne M Bird
Pages: 93-104
Published online: 16 May 2014
AbstractforAngelman syndrome: review of clinical and molecular aspects | Full Text | References | PDF (345.3 KB)
  • 1037 Views
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Open Access
Review Article
The genetic basis of ankylosing spondylitis: new insights into disease pathogenesis
Florence WL Tsui, Hing Wo Tsui, Ali Akram, Nigil Haroon & Robert D Inman
Pages: 105-115
Published online: 22 May 2014
AbstractforThe genetic basis of ankylosing spondylitis: new insights into disease pathogenesis | Full Text | References | PDF (298.8 KB)
  • 157 Views
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Open Access
Review Article
Optimal management of complications associated with achondroplasia
Penny J Ireland, Verity Pacey, Andreas Zankl, Priya Edwards, Leanne M Johnston & Ravi Savarirayan
Pages: 117-125
Published online: 24 Jun 2014
AbstractforOptimal management of complications associated with achondroplasia | Full Text | References | PDF (270.7 KB)
  • 506 Views
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Open Access
Review Article
Identification of trisomy 18, trisomy 13, and Down syndrome from maternal plasma
Jean Gekas, Sylvie Langlois, Vardit Ravitsky, François Audibert, David-Gradus van den Berg, Hazar Haidar & François Rousseau
Pages: 127-131
Published online: 07 Jul 2014
AbstractforIdentification of trisomy 18, trisomy 13, and Down syndrome from maternal plasma | Full Text | References | PDF (327.9 KB)
  • 187 Views
  • 13 CrossRef citations
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Open Access
Review Article
Disease-modifying genes and monogenic disorders: experience in cystic fibrosis
Sabina Gallati
Pages: 133-146
Published online: 26 Dec 2022
AbstractforDisease-modifying genes and monogenic disorders: experience in cystic fibrosis | Full Text | References | PDF (838.4 KB)
  • 314 Views
  • 58 CrossRef citations
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Open Access
Review Article
The genetic basis of Lynch syndrome and its implications for clinical practice and risk management
Stephanie A Cohen & Anna Leininger
Pages: 147-158
Published online: 26 Dec 2022
AbstractforThe genetic basis of Lynch syndrome and its implications for clinical practice and risk management | Full Text | References | PDF (416 KB)
  • 137 Views
  • 45 CrossRef citations
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Open Access
Review Article
Ataxia-telangiectasia: future prospects
Mohammed Wajid Chaudhary & Raidah Saleem Al-Baradie
Pages: 159-167
Published online: 10 Sep 2014
AbstractforAtaxia-telangiectasia: future prospects | Full Text | References | PDF (450.6 KB)
  • 234 Views
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Open Access
Review Article
Beckwith–Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same gene
Donatella Milani, Lidia Pezzani, Silvia Tabano & Monica Miozzo
Pages: 169-175
Published online: 16 Sep 2014
AbstractforBeckwith–Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same gene | Full Text | References | PDF (299 KB)
  • 80 Views
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Open Access

Case Report

Case Report
A novel nonsense mutation of the KAL1 gene (p.Trp204*) in Kallmann syndrome
Antonette Souto El Husny, Milene Raiol-Moraes, Milena Coelho Fernandes-Caldato & Ândrea Ribeiro-dos-Santos
Pages: 177-182
Published online: 26 Dec 2022
AbstractforA novel nonsense mutation of the KAL1 gene (p.Trp204*) in Kallmann syndrome | Full Text | References | PDF (608.1 KB)
  • 67 Views
  • 1 CrossRef citations
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Open Access

Review

Review Article
Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome)
Daniel D Buchanan, Christophe Rosty, Mark Clendenning, Amanda B Spurdle & Aung Ko Win
Pages: 183-193
Published online: 06 Oct 2014
AbstractforClinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome) | Full Text | References | PDF (349.5 KB)
  • 148 Views
  • 12 CrossRef citations
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Open Access
Review Article
Genetics of hypertrophic cardiomyopathy: advances and pitfalls in molecular diagnosis and therapy
Catarina Roma-Rodrigues & Alexandra R Fernandes
Pages: 195-208
Published online: 03 Oct 2014
AbstractforGenetics of hypertrophic cardiomyopathy: advances and pitfalls in molecular diagnosis and therapy | Full Text | References | PDF (1.4 MB)
  • 209 Views
  • 11 CrossRef citations
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Open Access
Review Article
Current status of gene therapy for breast cancer: progress and challenges
Cian M McCrudden & Helen O McCarthy
Pages: 209-220
Published online: 10 Nov 2014
AbstractforCurrent status of gene therapy for breast cancer: progress and challenges | Full Text | References | PDF (802.4 KB)
  • 258 Views
  • 7 CrossRef citations
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Open Access
Review Article
The genetics of Leigh syndrome and its implications for clinical practice and risk management
Ilene S Ruhoy & Russell P Saneto
Pages: 221-234
Published online: 26 Dec 2022
AbstractforThe genetics of Leigh syndrome and its implications for clinical practice and risk management | Full Text | References | PDF (2.6 MB)
  • 883 Views
  • 24 CrossRef citations
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Open Access
Review Article
New insights into the genetic basis of infertility
Thejaswini Venkatesh, Padmanaban S Suresh & Rie Tsutsumi
Pages: 235-243
Published online: 26 Dec 2022
AbstractforNew insights into the genetic basis of infertility | Full Text | References | PDF (252.9 KB)
  • 295 Views
  • 9 CrossRef citations
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Open Access
Review Article
Splicing modulation therapy in the treatment of genetic diseases
Virginia Arechavala-Gomeza, Bernard Khoo & Annemieke Aartsma-Rus
Pages: 245-252
Published online: 26 Dec 2022
AbstractforSplicing modulation therapy in the treatment of genetic diseases | Full Text | References | PDF (811.5 KB)
  • 98 Views
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Open Access

Original Research

Article
Molecular analysis of beta-globin gene mutations among Thai beta-thalassemia children: results from a single center study
Boonchai Boonyawat, Chalinee Monsereenusorn & Chanchai Traivaree
Pages: 253-258
Published online: 26 Dec 2022
AbstractforMolecular analysis of beta-globin gene mutations among Thai beta-thalassemia children: results from a single center study | Full Text | References | PDF (981.2 KB)
  • 288 Views
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