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The Application of Clinical Genetics

ISSN: 1178--704X
Publisher: Dove Press


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Proximal spinal muscular atrophy: current orthopedic perspective

Author(s): Haaker G | Fujak A
Volume: 2013
Issue: default
Year: 2013
Developments in the treatment of hemophilia B: focus on emerging gene therapy

Author(s): Cancio MI | Reiss UM | Nathwani AC | Davidoff AM | Gray JT
Volume: 2013
Issue: default
Year: 2013
Dubowitz syndrome: common findings and peculiar urine odor

Author(s): Chehade C | Awwad J | Yazbeck N | Majdalani M | Wakim R | Tfayli H | Farra C
Volume: 2013
Issue: default
Year: 2013
Clinical impact of recent genetic discoveries in osteoporosis

Author(s): Mitchell BD | Streeten EA
Volume: 2013
Issue: default
Year: 2013
The genetics of multiple sclerosis: review of current and emerging candidates

Author(s): Muñoz-Culla M | Irizar H | Otaegui D
Volume: 2013
Issue: default
Year: 2013
Reduced life expectancy seen in hereditary diseases which predispose to early-onset tumors

Author(s): Evans DGR | Ingham SL
Volume: 2013
Issue: default
Year: 2013
PALB2 and breast cancer: ready for clinical translation!

Author(s): Southey MC | Teo ZL | Winship I
Volume: 2013
Issue: default
Year: 2013
Candidate genes of Waldenström’s macroglobulinemia: current evidence and research

Author(s): Bianchi G | Sacco A | Kumar S | Rossi G | Ghobrial I | Roccaro A
Volume: 2013
Issue: default
Year: 2013
Genetic variants associated with Crohn's disease

Author(s): Michail S | Bultron G | DePaolo RW
Volume: 2013
Issue: default
Year: 2013
Genetic basis of cohesinopathies

Author(s): Barbero JL
Volume: 2013
Issue: default
Year: 2013
Gene mutations in cardiac arrhythmias: a review of recent evidence in ion channelopathies

Author(s): Hsiao PY | Tien HC | Lo CP | Juang JM | Wang YH | Sung RJ
Volume: 2013
Issue: default
Year: 2013
Association of deletion allele of insertion/deletion polymorphism in α2B adrenoceptor gene and hypertension with or without type 2 diabetes mellitus

Author(s): Tayel SI | Khader HF | El-Helbawy NG | Ibrahim WA
Volume: 2012
Issue: default
Year: 2012
The genetics of neuroendocrine prostate cancers: a review of current and emerging candidates

Author(s): Ather MH | Siddiqui T
Volume: 2012
Issue: default
Year: 2012
Genetics of hearing loss: focus on DFNA2

Author(s): Dominguez LM | Dodson KM
Volume: 2012
Issue: default
Year: 2012
Clinical and molecular characterization of a patient with a combination of a deletion and a duplication of 22q13 using array CGH

Author(s): Ochando I | Urbano A | Rubio J | Rueda J
Volume: 2012
Issue: default
Year: 2012
The genetic basis of severe combined immunodeficiency and its variants

Author(s): Tasher D | Dalal I
Volume: 2012
Issue: default
Year: 2012
Congenital protein hypoglycosylation diseases

Author(s): Sparks SE
Volume: 2012
Issue: default
Year: 2012
Identifying the genetic components underlying the pathophysiology of movement disorders

Author(s): Ezquerra M | Compta Y | Marti MJ
Volume: 2011
Issue: default
Year: 2011
A Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder

Author(s): Farra C | Yunis K | Yazbeck N | Majdalani M | Charafeddine L | Wakim R | Awwad J
Volume: 2011
Issue: default
Year: 2011
Genetic evidence linking lung cancer and COPD: a new perspective

Author(s): Young RP | Hopkins RJ | Gamble GD | Etzel C | El-Zein R | Crapo JD
Volume: 2011
Issue: default
Year: 2011
Genetic variations and associated pathophysiology in the management of epilepsy

Author(s): Mulley JC | Dibbens LM
Volume: 2011
Issue: default
Year: 2011
GSTM1 null genotype in COPD and lung cancer: evidence of a modifier or confounding effect?

Author(s): Young RP | Hopkins RJ | Hay BA | Gamble GD
Volume: 2011
Issue: default
Year: 2011
Inherited and acquired alterations in development of breast cancer

Author(s): Rizzolo P | Silvestri V | Falchetti M | Ottini L
Volume: 2011
Issue: default
Year: 2011
The Application of Clinical Genetics

Author(s): Maurer MH
Volume: 2012
Issue: default
Year: 2012
Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era

Author(s): Costain G | Bassett AS
Volume: 2012
Issue: default
Year: 2012
Genetic basis of Parkinson's disease: inheritance, penetrance, and expression

Author(s): Schulte C | Gasser T
Volume: 2011
Issue: default
Year: 2011
Alpha1-antitrypsin deficiency: a clinical-genetic overview

Author(s): Abboud RT | Nelson TN | Jung B | Mattman A
Volume: 2011
Issue: default
Year: 2011
DataGenno: building a new tool to bridge molecular and clinical genetics

Author(s): Fabricio F Costa | Luciano S Foly | Marcelo P Coutinho
Volume: 2011
Issue: default
Year: 2011
Interleukin-1β inhibitors for the treatment of cryopyrin-associated periodic syndrome

Author(s): Eugen Dhimolea
Volume: 2011
Issue: default
Year: 2011
The genetic overlap of attention deficit hyperactivity disorder and autistic spectrum disorder

Author(s): Arie J Stam | Patricia F Schothorst | Jacob AS Vorstman | Wouter G Staal
Volume: 2009
Issue: default
Year: 2009
Association of the BANK1 R61H variant with systemic lupus erythematosus in Americans of European and African ancestry

Author(s): Struan FA Grant | Michelle Petri | Jonathan P Bradfield | Cecilia E Kim | Erin Santa | et al
Volume: 2009
Issue: default
Year: 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)

Author(s): Solveig Schulz | Marianne Volleth | Petra Muschke | Ilse Wieland | Peter Wieacker
Volume: 2008
Issue: default
Year: 2008
Genetic and molecular mechanisms in multiple myeloma: a route to better understand disease pathogenesis and heterogeneity

Author(s): Marie-Christine Kyrtsonis | Vassiliki Bartzis | Xenophon Papanikolaou | et al
Volume: 2010
Issue: default
Year: 2010
Genetic contribution and associated pathophysiology in end-stage renal disease

Author(s): Suraksha Agrawal | SS Agarwal | Sita Naik
Volume: 2010
Issue: default
Year: 2010
The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations

Author(s): Isabel De Castro-Orós | Miguel Pocoví | Fernando Civeira
Volume: 2010
Issue: default
Year: 2010
Diagnostic criteria, specific mutations, and genetic predisposition in gastrointestinal stromal tumors

Author(s): Jean-Baptiste Bachet | Jean-François Emile
Volume: 2010
Issue: default
Year: 2010
Allergic rhinitis and genetic components: focus on Toll-like receptors (TLRs) gene polymorphism

Author(s): Zhiwei Gao | Donna C Rennie | Ambikaipakan Senthilselvan
Volume: 2010
Issue: default
Year: 2010
FAM13A locus in COPD is independently associated with lung cancer – evidence of a molecular genetic link between COPD and lung cancer

Author(s): Robert P Young | Raewyn J Hopkins | Bryan A Hay | et al
Volume: 2011
Issue: default
Year: 2010
The genetics of breast cancer: risk factors for disease

Author(s): Andrew Collins | Ioannis Politopoulos
Volume: 2011
Issue: default
Year: 2011
Novel compounds for the treatment of Duchenne muscular dystrophy: emerging therapeutic agents

Author(s): Steve D Wilton | Sue Fletcher
Volume: 2011
Issue: default
Year: 2011
Congenital malformations in Ecuadorian children: urgent need to create a National Registry of Birth Defects

Author(s): Fabricio González-Andrade | Ramiro López-Pulles
Volume: 2010
Issue: default
Year: 2010
Psychogenetics of post-traumatic stress disorder: a short review

Author(s): Ahmed Rady | Adel Elsheshai | Osama Elkholy | et al
Volume: 2010
Issue: default
Year: 2010
A comparison of the genetic and clinical profile of men that respond and do not respond to the immediate antihypertensive effects of aerobic exercise

Author(s): Linda S Pescatello | Bruce E Blanchard | Gregory J Tsongalis | Ann A O’Connell | Heather Gordish-Dressman | et al
Volume: 2008
Issue: default
Year: 2008
Amniotic band syndrome and/or limb body wall complex: split or lump

Author(s): Ashutosh Halder
Volume: 2010
Issue: default
Year: 2010
Inheritance of craniofacial features in Colombian families with class III malocclusion

Author(s): L Otero | L Quintero | D Champsaur | et al
Volume: 2010
Issue: default
Year: 2010
Gene polymorphisms in association with self-reported stroke in US adults

Author(s): Amy Z Fan | Jing Fang | Ajay Yesupriya | et al
Volume: 2010
Issue: default
Year: 2010
Management of the asymptomatic BRCA mutation carrier

Author(s): Paige Teller | Rita K Kramer
Volume: 2010
Issue: default
Year: 2010
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