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The Application of Clinical Genetics


Journal Articles:

- 139 records -

RAI1 gene mutations: mechanisms of Smith–Magenis Syndrome

Falco M, Amabile S, Acquaviva F

The Application of Clinical Genetics 2017, 10:85-94

Published Date: 3 November 2017

Primary ciliary dyskinesia: mechanisms and management

Damseh N, Quercia N, Rumman N, Dell SD, Kim RH

The Application of Clinical Genetics 2017, 10:67-74

Published Date: 19 September 2017

Maple syrup urine disease: mechanisms and management

Blackburn PR, Gass JM, Vairo FP, Farnham KM, Atwal HK, Macklin S, Klee EW, Atwal PS

The Application of Clinical Genetics 2017, 10:57-66

Published Date: 6 September 2017

Genotype and phenotype correlation in intracranial hemorrhage in neonatal factor VII deficiency among Thai children

Traivaree C, Monsereenusorn C, Meekaewkunchorn A, Laoyookhong P, Suwansingh S, Boonyawat B

The Application of Clinical Genetics 2017, 10:37-41

Published Date: 21 June 2017

Mutation analysis of β-thalassemia in East-Western Indian population: a recent molecular approach

Shah PS, Shah ND, Ray HSP, Khatri NB, Vaghasia KK, Raval RJ, Shah SC, Rao MV

The Application of Clinical Genetics 2017, 10:27-35

Published Date: 11 May 2017

Mitochondrial diseases: advances and issues

Scarpelli M, Todeschini A, Volonghi I, Padovani A, Filosto M

The Application of Clinical Genetics 2017, 10:21-26

Published Date: 15 February 2017

Genetics of tuberous sclerosis complex: implications for clinical practice

Caban C, Khan N, Hasbani DM, Crino PB

The Application of Clinical Genetics 2017, 10:1-8

Published Date: 21 December 2016

Advances in the management of erythropoietic protoporphyria – role of afamelanotide

Lane AM, McKay JT, Bonkovsky HL

The Application of Clinical Genetics 2016, 9:179-189

Published Date: 12 December 2016

Analysis of binary responses with outcome-specific misclassification probability in genome-wide association studies

Rekaya R, Smith S, Hay EH, Farhat N, Aggrey SE

The Application of Clinical Genetics 2016, 9:169-177

Published Date: 30 November 2016

The genetics of uveal melanoma: current insights

Helgadottir H, Höiom V

The Application of Clinical Genetics 2016, 9:147-155

Published Date: 6 September 2016

ROCK2 and MYLK variants and high-altitude pulmonary edema

Sikri G, Bhattachar S

The Application of Clinical Genetics 2016, 9:137-139

Published Date: 2 August 2016

The association between vitamin D receptor gene polymorphisms (TaqI and FokI), Type 2 diabetes, and micro-/macrovascular complications in postmenopausal women

Maia J, Silva AS, Carmo RF, Mendonça TF, Griz LH, Moura P, Bandeira F

The Application of Clinical Genetics 2016, 9:131-136

Published Date: 1 August 2016

Examining genotypic variation in autism spectrum disorder and its relationship to parental age and phenotype

Geier DA, Kern JK, Sykes LK, Geier MR

The Application of Clinical Genetics 2016, 9:121-129

Published Date: 28 July 2016

Animal models of GM2 gangliosidosis: utility and limitations

Lawson CA, Martin DR

The Application of Clinical Genetics 2016, 9:111-120

Published Date: 20 July 2016

Mevalonate kinase deficiency: current perspectives

Favier LA, Schulert GS

The Application of Clinical Genetics 2016, 9:101-110

Published Date: 20 July 2016

Alagille syndrome: clinical perspectives

Saleh M, Kamath BM, Chitayat D

The Application of Clinical Genetics 2016, 9:75-82

Published Date: 30 June 2016

Role of elosulfase alfa in mucopolysaccharidosis IVA

Regier DS, Tanpaiboon P

The Application of Clinical Genetics 2016, 9:67-74

Published Date: 14 June 2016

Marfan syndrome: current perspectives

Pepe G, Giusti B, Sticchi E, Abbate R, Gensini GF, Nistri S

The Application of Clinical Genetics 2016, 9:55-65

Published Date: 9 May 2016

Genetics of Lafora progressive myoclonic epilepsy: current perspectives

Kecmanović M, Keckarević-Marković M, Keckarević D, Stevanović G, Jović N, Romac S

The Application of Clinical Genetics 2016, 9:49-53

Published Date: 2 May 2016

Natural killer cells and single nucleotide polymorphisms of specific ion channels and receptor genes in myalgic encephalomyelitis/chronic fatigue syndrome

Marshall-Gradisnik S, Huth T, Chacko A, Johnston S, Smith P, Staines D

The Application of Clinical Genetics 2016, 9:39-47

Published Date: 31 March 2016

Analysis of the CFTR gene in Venezuelan cystic fibrosis patients, identification of six novel cystic fibrosis-causing genetic variants

Sánchez K, de Mendonca E, Matute X, Chaustre I, Villalón M, Takiff H

The Application of Clinical Genetics 2016, 9:33-38

Published Date: 8 March 2016

Emery–Dreifuss muscular dystrophy: a test case for precision medicine

Pillers DAM, Von Bergen NH

The Application of Clinical Genetics 2016, 9:27-32

Published Date: 24 February 2016

Non-invasive prenatal testing for fetal chromosome abnormalities: review of clinical and ethical issues

Gekas J, Langlois S, Ravitsky V, Audibert F, van den Berg DG, Haidar H, Rousseau F

The Application of Clinical Genetics 2016, 9:15-26

Published Date: 4 February 2016

Case report of individual with cutaneous immunodeficiency and novel 1p36 duplication

Hatter AD, Soler DC, Curtis C, Cooper KD, McCormick TS

The Application of Clinical Genetics 2016, 9:1-4

Published Date: 13 January 2016

Insights into genetic susceptibility in the etiology of spontaneous preterm birth

Parets SE, Knight AK, Smith AK

The Application of Clinical Genetics 2015, 8:283-290

Published Date: 14 December 2015

Sanfilippo syndrome: causes, consequences, and treatments

Fedele AO

The Application of Clinical Genetics 2015, 8:269-281

Published Date: 25 November 2015

Diagnostic and treatment strategies in mucopolysaccharidosis VI

Vairo F, Federhen A, Baldo G, Riegel M, Burin M, Leistner-Segal S, Giugliani R

The Application of Clinical Genetics 2015, 8:245-255

Published Date: 30 October 2015

Genetics of inherited primary arrhythmia disorders

Spears DA, Gollob MH

The Application of Clinical Genetics 2015, 8:215-233

Published Date: 18 September 2015

An update of clinical management of acute intermittent porphyria

Pischik E, Kauppinen R

The Application of Clinical Genetics 2015, 8:201-214

Published Date: 1 September 2015

1p36 deletion syndrome: an update

Jordan VK, Zaveri HP, Scott DA

The Application of Clinical Genetics 2015, 8:189-200

Published Date: 27 August 2015

Alström syndrome: current perspectives

Álvarez-Satta M, Castro-Sánchez S, Valverde D

The Application of Clinical Genetics 2015, 8:171-179

Published Date: 21 July 2015

Recent advances in gene therapy for lysosomal storage disorders

Rastall DP, Amalfitano A

The Application of Clinical Genetics 2015, 8:157-169

Published Date: 23 June 2015

Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome

von Kodolitsch Y, De Backer J, Schüler H, Bannas P, Behzadi C, Bernhardt AM, Hillebrand M, Fuisting B, Sheikhzadeh S, Rybczynski M, Kölbel T, Püschel K, Blankenberg S, Robinson PN

The Application of Clinical Genetics 2015, 8:137-155

Published Date: 16 June 2015

Hardy–Weinberg equilibrium analysis of the 48 bp VNTR in the III exon of the DRD4 gene in a sample of parents of ADHD cases

Trejo S, Toscano-Flores JJ, Matute E, Ramírez-Dueñas ML

The Application of Clinical Genetics 2015, 8:133-136

Published Date: 2 June 2015

22q11 deletion syndrome: current perspective

Hacıhamdioğlu B, Hacıhamdioğlu D, Delil K

The Application of Clinical Genetics 2015, 8:123-132

Published Date: 18 May 2015

The genetic basis of familial adenomatous polyposis and its implications for clinical practice and risk management

Leoz ML, Carballal S, Moreira L, Ocaña T, Balaguer F

The Application of Clinical Genetics 2015, 8:95-107

Published Date: 16 April 2015

Emerging pharmacologic treatment options for fragile X syndrome

Schaefer TL, Davenport MH, Erickson CA

The Application of Clinical Genetics 2015, 8:75-93

Published Date: 7 April 2015

Bilateral granulosa cell tumors: a novel malignant manifestation of multiple endocrine neoplasia 1 syndrome found in a patient with a rare menin in-frame deletion

Hall MJ, Innocent J, Rybak C, Veloski C, Scott WJ, Wu H, Ridge JA, Hoffman JP, Borghaei H, Turaka A, Daly MB

The Application of Clinical Genetics 2015, 8:69-73

Published Date: 17 February 2015

Moyamoya disease and syndromes: from genetics to clinical management

Guey S, Tournier-Lasserve E, Hervé D, Kossorotoff M

The Application of Clinical Genetics 2015, 8:49-68

Published Date: 16 February 2015

Progressive osseous heteroplasia: diagnosis, treatment, and prognosis

Pignolo RJ, Ramaswamy G, Fong JT, Shore EM, Kaplan FS

The Application of Clinical Genetics 2015, 8:37-48

Published Date: 30 January 2015

Tay-Sachs disease: current perspectives from Australia

Lew RM, Burnett L, Proos AL, Delatycki MB

The Application of Clinical Genetics 2015, 8:19-25

Published Date: 21 January 2015

The genetics of Ménière’s disease

Chiarella G, Petrolo C, Cassandro E

The Application of Clinical Genetics 2015, 8:9-17

Published Date: 8 January 2015

Molecular analysis of beta-globin gene mutations among Thai beta-thalassemia children: results from a single center study

Boonyawat B, Monsereenusorn C, Traivaree C

The Application of Clinical Genetics 2014, 7:253-258

Published Date: 10 December 2014

Splicing modulation therapy in the treatment of genetic diseases

Arechavala-Gomeza V, Khoo B, Aartsma-Rus A

The Application of Clinical Genetics 2014, 7:245-252

Published Date: 4 December 2014

New insights into the genetic basis of infertility

Venkatesh T, Suresh PS, Tsutsumi R

The Application of Clinical Genetics 2014, 7:235-243

Published Date: 1 December 2014

Current status of gene therapy for breast cancer: progress and challenges

McCrudden CM, McCarthy HO

The Application of Clinical Genetics 2014, 7:209-220

Published Date: 10 November 2014

A novel nonsense mutation of the KAL1 gene (p.Trp204*) in Kallmann syndrome

El Husny AS, Raiol-Moraes M, Fernandes-Caldato MC, Ribeiro-dos-Santos Â

The Application of Clinical Genetics 2014, 7:177-182

Published Date: 30 September 2014

Ataxia-telangiectasia: future prospects

Chaudhary MW, Al-Baradie RS

The Application of Clinical Genetics 2014, 7:159-167

Published Date: 10 September 2014

Identification of trisomy 18, trisomy 13, and Down syndrome from maternal plasma

Gekas J, Langlois S, Ravitsky V, Audibert F, van den Berg D, Haidar H, Rousseau F

The Application of Clinical Genetics 2014, 7:127-131

Published Date: 7 July 2014

Optimal management of complications associated with achondroplasia

Ireland PJ, Pacey V, Zankl A, Edwards P, Johnston LM, Savarirayan R

The Application of Clinical Genetics 2014, 7:117-125

Published Date: 24 June 2014

The genetic basis of ankylosing spondylitis: new insights into disease pathogenesis

Tsui FW, Tsui HW, Akram A, Haroon N, Inman RD

The Application of Clinical Genetics 2014, 7:105-115

Published Date: 22 May 2014

Overview of the genetic determinants of primary aldosteronism

Al-Salameh A, Cohen R, Desailloud R

The Application of Clinical Genetics 2014, 7:67-79

Published Date: 8 April 2014

Wiskott–Aldrich syndrome: diagnosis, current management, and emerging treatments

Buchbinder D, Nugent DJ, Filipovich AH

The Application of Clinical Genetics 2014, 7:55-66

Published Date: 3 April 2014

Genetics of bipolar disorder

Kerner B

The Application of Clinical Genetics 2014, 7:33-42

Published Date: 12 February 2014

Pathogenesis of coronary artery disease: focus on genetic risk factors and identification of genetic variants

Sayols-Baixeras S, Lluís-Ganella C, Lucas G, Elosua R

The Application of Clinical Genetics 2014, 7:15-32

Published Date: 16 January 2014

Proximal spinal muscular atrophy: current orthopedic perspective

Haaker G, Fujak A

The Application of Clinical Genetics 2013, 6:113-120

Published Date: 14 November 2013

Developments in the treatment of hemophilia B: focus on emerging gene therapy

Cancio MI, Reiss UM, Nathwani AC, Davidoff AM, Gray JT

The Application of Clinical Genetics 2013, 6:91-101

Published Date: 18 October 2013

Dubowitz syndrome: common findings and peculiar urine odor

Chehade C, Awwad J, Yazbeck N, Majdalani M, Wakim R, Tfayli H, Farra C

The Application of Clinical Genetics 2013, 6:87-90

Published Date: 8 October 2013

Clinical impact of recent genetic discoveries in osteoporosis

Mitchell BD, Streeten EA

The Application of Clinical Genetics 2013, 6:75-85

Published Date: 4 October 2013

The genetics of multiple sclerosis: review of current and emerging candidates

Muñoz-Culla M, Irizar H, Otaegui D

The Application of Clinical Genetics 2013, 6:63-73

Published Date: 8 August 2013

PALB2 and breast cancer: ready for clinical translation!

Southey MC, Teo ZL, Winship I

The Application of Clinical Genetics 2013, 6:43-52

Published Date: 19 July 2013

Candidate genes of Waldenström’s macroglobulinemia: current evidence and research

Bianchi G, Sacco A, Kumar S, Rossi G, Ghobrial I, Roccaro A

The Application of Clinical Genetics 2013, 6:33-42

Published Date: 17 July 2013

Genetic variants associated with Crohn's disease

Michail S, Bultron G, DePaolo RW

The Application of Clinical Genetics 2013, 6:25-32

Published Date: 16 July 2013

Genetic basis of cohesinopathies

Barbero JL

The Application of Clinical Genetics 2013, 6:15-23

Published Date: 1 May 2013

Gene mutations in cardiac arrhythmias: a review of recent evidence in ion channelopathies

Hsiao PY, Tien HC, Lo CP, Juang JM, Wang YH, Sung RJ

The Application of Clinical Genetics 2013, 6:1-13

Published Date: 18 January 2013

Genetics of hearing loss: focus on DFNA2

Dominguez LM, Dodson KM

The Application of Clinical Genetics 2012, 5:97-104

Published Date: 18 October 2012

Association analysis of genetic variations of eNOS and α2ß1 integrin genes with type 2 diabetic retinopathy

Azmy R, Dawood A, Kilany A, El-Ghobashy Y, Ellakwa AF, El-Daly M

The Application of Clinical Genetics 2012, 5:55-65

Published Date: 24 July 2012

Congenital protein hypoglycosylation diseases

Sparks SE

The Application of Clinical Genetics 2012, 5:43-54

Published Date: 5 July 2012

Gene therapy for the treatment of cystic fibrosis

Burney TJ, Davies JC

The Application of Clinical Genetics 2012, 5:29-36

Published Date: 29 May 2012

Chronic lymphocytic leukemia-associated chromosomal abnormalities and miRNA deregulation

Kiefer Y, Schulte C, Tiemann M, Bullerdiek J

The Application of Clinical Genetics 2012, 5:21-28

Published Date: 12 March 2012

The Application of Clinical Genetics

Maurer MH

The Application of Clinical Genetics 2012, 5:19-20

Published Date: 23 February 2012

Inherited and acquired alterations in development of breast cancer

Rizzolo P, Silvestri V, Falchetti M, Ottini L

The Application of Clinical Genetics 2011, 4:145-158

Published Date: 14 November 2011

GSTM1 null genotype in COPD and lung cancer: evidence of a modifier or confounding effect?

Young RP, Hopkins RJ, Hay BA, Gamble GD

The Application of Clinical Genetics 2011, 4:137-144

Published Date: 13 September 2011

Genetic evidence linking lung cancer and COPD: a new perspective

Young RP, Hopkins RJ, Gamble GD, Etzel C, El-Zein R, Crapo JD

The Application of Clinical Genetics 2011, 4:99-111

Published Date: 18 July 2011

Alpha1-antitrypsin deficiency: a clinical-genetic overview

Abboud RT, Nelson TN, Jung B, Mattman A

The Application of Clinical Genetics 2011, 4:55-65

Published Date: 31 March 2011

DataGenno: building a new tool to bridge molecular and clinical genetics

Fabricio F Costa, Luciano S Foly, Marcelo P Coutinho

The Application of Clinical Genetics 2011, 4:45-54

Published Date: 18 March 2011

The genetics of breast cancer: risk factors for disease

Andrew Collins, Ioannis Politopoulos

The Application of Clinical Genetics 2011, 4:11-19

Published Date: 7 January 2011

Disorders caused by chromosome abnormalities

Aaron Theisen, Lisa G Shaffer

The Application of Clinical Genetics 2010, 3:159-174

Published Date: 10 December 2010

Genetic screening for homozygous and heterozygous familial hypercholesterolemia

Maria C Izar, Valéria A Machado, Francisco A Fonseca

The Application of Clinical Genetics 2010, 3:147-157

Published Date: 8 December 2010

Recent developments in the treatment of acute abdominal and facial attacks of hereditary angioedema: focus on human C1 esterase inhibitor

Lourdes Pastó Cardona, Ramon Lleonart Bellfill, Joaquim Marcoval Caus

The Application of Clinical Genetics 2010, 3:133-146

Published Date: 3 December 2010

Management of the asymptomatic BRCA mutation carrier

Paige Teller, Rita K Kramer

The Application of Clinical Genetics 2010, 3:121-131

Published Date: 24 November 2010

Allergic rhinitis and genetic components: focus on Toll-like receptors (TLRs) gene polymorphism

Zhiwei Gao, Donna C Rennie, Ambikaipakan Senthilselvan

The Application of Clinical Genetics 2010, 3:109-120

Published Date: 16 November 2010

Psychogenetics of post-traumatic stress disorder: a short review

Ahmed Rady, Adel Elsheshai, Osama Elkholy, et al

The Application of Clinical Genetics 2010, 3:103-108

Published Date: 16 November 2010

Diagnostic criteria, specific mutations, and genetic predisposition in gastrointestinal stromal tumors

Jean-Baptiste Bachet, Jean-François Emile

The Application of Clinical Genetics 2010, 3:85-101

Published Date: 29 October 2010

Genetic contribution and associated pathophysiology in end-stage renal disease

Suraksha Agrawal, SS Agarwal, Sita Naik

The Application of Clinical Genetics 2010, 3:65-84

Published Date: 5 August 2010

The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations

Isabel De Castro-Orós, Miguel Pocoví, Fernando Civeira

The Application of Clinical Genetics 2010, 3:53-64

Published Date: 5 August 2010

Genetic and molecular mechanisms in multiple myeloma: a route to better understand disease pathogenesis and heterogeneity

Marie-Christine Kyrtsonis, Vassiliki Bartzis, Xenophon Papanikolaou, et al

The Application of Clinical Genetics 2010, 3:41-51

Published Date: 28 July 2010

Congenital malformations in Ecuadorian children: urgent need to create a National Registry of Birth Defects

Fabricio González-Andrade, Ramiro López-Pulles

The Application of Clinical Genetics 2010, 3:29-39

Published Date: 14 April 2010

Gene polymorphisms in association with self-reported stroke in US adults

Amy Z Fan, Jing Fang, Ajay Yesupriya, et al

The Application of Clinical Genetics 2010, 3:23-28

Published Date: 11 March 2010

Inheritance of craniofacial features in Colombian families with class III malocclusion

L Otero, L Quintero, D Champsaur, et al

The Application of Clinical Genetics 2010, 3:1-6

Published Date: 3 February 2010

The genetic overlap of attention deficit hyperactivity disorder and autistic spectrum disorder

Arie J Stam, Patricia F Schothorst, Jacob AS Vorstman, Wouter G Staal

The Application of Clinical Genetics 2009, 2:7-13

Published Date: 10 March 2009

Association of the BANK1 R61H variant with systemic lupus erythematosus in Americans of European and African ancestry

Struan FA Grant, Michelle Petri, Jonathan P Bradfield, Cecilia E Kim, Erin Santa, et al

The Application of Clinical Genetics 2009, 2:1-5

Published Date: 9 December 2008

Greig cephalopolysyndactyly (GCPS) contiguous gene syndrome in a boy with a 14 Mb deletion in region 7p13-14 caused by a paternal balanced insertion (5; 7)

Solveig Schulz, Marianne Volleth, Petra Muschke, Ilse Wieland, Peter Wieacker

The Application of Clinical Genetics 2008, 1:19-22

Published Date: 18 November 2008

A comparison of the genetic and clinical profile of men that respond and do not respond to the immediate antihypertensive effects of aerobic exercise

Linda S Pescatello, Bruce E Blanchard, Gregory J Tsongalis, Ann A O’Connell, Heather Gordish-Dressman, et al

The Application of Clinical Genetics 2008, 1:7-17

Published Date: 18 September 2008

Hemodialysis for hyperammonemia associated with ornithine transcarbamylase deficiency

Jacob F Collen, Nealanjon P Das, Jonathan M Koff, Robert T Neff, Kevin C Abbott

The Application of Clinical Genetics 2008, 1:1-5

Published Date: 24 July 2008