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The Application of Clinical Genetics


Archive: Volume 12, 2019

Adverse Drug Reactions Associated with CYP 2B6 Polymorphisms in HIV/AIDS-Treated Patients in Yaoundé, Cameroon

Nguefeu Nkenfou C, Atogho Tiedeu B, Nguefeu Nkenfou C, Nji AM, Chedjou JP, Tah Fomboh C, Kouanfack C, Mbacham WF

The Application of Clinical Genetics 2019, 12:261-268

Published Date: 30 December 2019

Genetic Basis of Polycystic Ovary Syndrome (PCOS): Current Perspectives

Khan MJ, Ullah A, Basit S

The Application of Clinical Genetics 2019, 12:249-260

Published Date: 24 December 2019

Spotlight on Warsaw Breakage Syndrome

Pisani FM

The Application of Clinical Genetics 2019, 12:239-248

Published Date: 5 December 2019

COL2A1 Gene Mutations: Mechanisms of Spondyloepiphyseal Dysplasia Congenita

Nenna R, Turchetti A, Mastrogiorgio G, Midulla F

The Application of Clinical Genetics 2019, 12:235-238

Published Date: 4 December 2019

CCR2 Genetic Polymorphism And Its Potential Effect On HIV Acquisition In A Population Of Children Living In The Northern Region Of Cameroon

Ngoufack MN, Nkenfou CN, Atogho Tiedeu B, Mouafo LCM, Dambaya B, Ndzi EN, Kouanfack C, Nguefack-Tsague G, Mbacham WF, Ndjolo A

The Application of Clinical Genetics 2019, 12:229-234

Published Date: 28 November 2019

Candidate Gene Analysis Of Alopecia Areata In Jordanian Population Of Arab Descent: A Case–Control Study

AL-Eitan LN, Al Momani RO, Al Momani KK, Al Warawrah AM, Aljamal HA, Alghamdi MA, Muhanna AM, Al-Qarqaz FA

The Application of Clinical Genetics 2019, 12:221-228

Published Date: 21 November 2019

SLC22A1 And ATM Genes Polymorphisms Are Associated With The Risk Of Type 2 Diabetes Mellitus In Western Saudi Arabia: A Case-Control Study

Altall RM, Qusti SY, Filimban N, Alhozali AM, Alotaibi NA, Dallol A, Chaudhary AG, Bakhashab S

The Application of Clinical Genetics 2019, 12:213-219

Published Date: 15 November 2019

TRIM5α 136Q, CCR5 Promoter 59029G And CCR264I Alleles Impact The Progression Of HIV In Children And Adolescents

Dambaya B, Nkenfou CN, Mekue L, Této G, Ngoufack N, Ambada G, Flobert N, Colizzi V, Alexis N

The Application of Clinical Genetics 2019, 12:203-211

Published Date: 7 November 2019

Update On The Clinical Perspectives And Care Of The Child With 47,XXY (Klinefelter Syndrome)

Samango-Sprouse CA, Counts DR, Tran SL, Lasutschinkow PC, Porter GF, Gropman AL

The Application of Clinical Genetics 2019, 12:191-202

Published Date: 23 October 2019

Genetic Analysis Of ABCA1 Gene Of Primary Glaucoma In Jordanian Arab Population

Alkhatib R, Abudhaim N, AL-Eitan L, Abdo N, Alqudah A, Aman H

The Application of Clinical Genetics 2019, 12:181-189

Published Date: 4 October 2019

Gene Therapy For Beta-Thalassemia: Updated Perspectives

Karponi G, Zogas N

The Application of Clinical Genetics 2019, 12:167-180

Published Date: 23 September 2019

Ketogenic diet attenuates cerebellar atrophy progression in a subject with a biallelic variant at the ATAD3A locus [Response to Letter]

Al Madhoun A, Alnaser F, Melhem M, Nizam R, Al-Dabbous T, Al-Mulla F

The Application of Clinical Genetics 2019, 12:163-165

Published Date: 9 August 2019

Polymorphisms of CYP2C9*2, CYP2C9*3 and VKORC1 genes related to time in therapeutic range in patients with atrial fibrillation using warfarin

Silveira MMBM, Melo LA, Gomes FMF, Andrade LJCBR, Serur IP, Piscoya ICV, Gueiros RM, Palmeira do Ó K, Lima RE, Brasileiro VAE, Vasconcelos LRS, Sobral Filho DC

The Application of Clinical Genetics 2019, 12:151-159

Published Date: 2 August 2019

First report case with negative genetic study (array CGH, exome sequencing) in patients with vertical transmission of Zika virus infection and associated brain abnormalities

Candelo E, Caicedo G, Rosso F, Ballesteros A, Orrego J, Escobar L, Lapunzina P, Nevado J, Pachajoa H

The Application of Clinical Genetics 2019, 12:141-150

Published Date: 30 July 2019

Pharmacogenetics of alcohol addiction: current perspectives

Zastrozhin MS, Skryabin VY, Miroshkin SS, Bryun EA, Sychev DA

The Application of Clinical Genetics 2019, 12:131-140

Published Date: 11 July 2019

Barth syndrome: mechanisms and management

Finsterer J

The Application of Clinical Genetics 2019, 12:95-106

Published Date: 5 June 2019

Tracing the effect of the melanocortin-4 receptor pathway in obesity: study design and methodology of the TEMPO registry

Eneli I, Xu J, Webster M, McCagg A, Van Der Ploeg L, Garfield AS, Estrada E

The Application of Clinical Genetics 2019, 12:87-93

Published Date: 5 June 2019

Ketogenic diet attenuates cerebellar atrophy progression in a subject with a biallelic variant at the ATAD3A locus

Al Madhoun A, Alnaser F, Melhem M, Nizam R, Al-Dabbous T, Al-Mulla F

The Application of Clinical Genetics 2019, 12:79-86

Published Date: 5 June 2019

High prevalence of genetic determined familial hypercholesterolemia in premature coronary artery disease

Pirazzi C, Håkansson L, Gustafsson C, Omerovic E, Wiklund O, Mancina RM

The Application of Clinical Genetics 2019, 12:71-78

Published Date: 24 May 2019

Mitochondrial DNA D-loop sequencing reveals obesity variants in an Arab population

Eaaswarkhanth M, Melhem M, Sharma P, Nizam R, Al Madhoun A, Chaubey G, Alsmadi O, AlOzairi E, Al-Mulla F

The Application of Clinical Genetics 2019, 12:63-70

Published Date: 24 May 2019

c.259A>C in the fibrinogen gene of alpha chain (FGA) is a fibrinogen with thrombotic phenotype

Salomon O, Barel O, Eyal E, Shnerb Ganor R, Kleinbaum Y, Shohat M

The Application of Clinical Genetics 2019, 12:27-33

Published Date: 28 February 2019

Two novel variants in the TCF12 gene identified in cases with craniosynostosis

Goumenos A, Tsoutsou E, Traeger-Synodinos J, Petychakis D, Gavra M, Kolialexi A, Frysira H

The Application of Clinical Genetics 2019, 12:19-25

Published Date: 12 February 2019

Genetics of COPA syndrome

Kumrah R, Mathew B, Vignesh P, Singh S, Rawat A

The Application of Clinical Genetics 2019, 12:11-18

Published Date: 8 February 2019

A two gene-based risk score predicts alcoholic cirrhosis development in males with at-risk alcohol consumption

Mancina RM, Ferri F, Farcomeni A, Molinaro A, Maffongelli A, Mischitelli M, Poli E, Parlati L, Burza MA, De Santis A, Attilia F, Rotondo C, Rando MM, Attilia ML, Ceccanti M, Ginanni Corradini S

The Application of Clinical Genetics 2019, 12:1-10

Published Date: 10 January 2019