Works matching IS 1178704X AND DT 2019 AND VI 12

Results: 30

Spotlight on Warsaw Breakage Syndrome.

Published in:

Application of Clinical Genetics, 2019, v. 12, p. 239, doi. 10.2147/TACG.S186476

By:

Pisani, Francesca M

Publication type:

Article

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

Published in:

Application of Clinical Genetics, 2019, v. 12, p. 249, doi. 10.2147/TACG.S200341

By:

Khan, Muhammad Jaseem;
Ullah, Anwar;
Basit, Sulman

Publication type:

Article

COL2A1 Gene Mutations: Mechanisms of Spondyloepiphyseal Dysplasia Congenita.

Published in:

Application of Clinical Genetics, 2019, v. 12, p. 235, doi. 10.2147/TACG.S197205

By:

Nenna, Raffaella;
Turchetti, Arianna;
Mastrogiorgio, Gerarda;
Midulla, Fabio

Publication type:

Article

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

Published in:

Application of Clinical Genetics, 2019, v. 12, p. 261, doi. 10.2147/TACG.S226318

By:

Nkenfou, Carine Nguefeu;
Tiedeu, Barbara Atogho;
Nkenfou, Celine Nguefeu;
Nji, Akindeh M;
Chedjou, Jean Paul;
Fomboh, Calvino Tah;
Kouanfack, Charles;
Mbacham, Wilfred F

Publication type:

Article

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

Published in:

Application of Clinical Genetics, 2019, v. 12, p. 203, doi. 10.2147/TACG.S205335

By:

Dambaya, Béatrice;
Nkenfou, Céline Nguefeu;
Mekue, Linda;
Této, Georges;
Ngoufack, Nicole;
Ambada, Georgia;
Flobert, Njiokou;
Colizzi, Vittorio;
Alexis, Ndjolo

Publication type:

Article

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

Published in:

Application of Clinical Genetics, 2019, v. 12, p. 213, doi. 10.2147/TACG.S229952

By:

Altall, Rana M;
Qusti, Safaa Y;
Filimban, Najlaa;
Alhozali, Amani M;
Alotaibi, Najat A;
Dallol, Ashraf;
Chaudhary, Adeel G;
Bakhashab, Sherin

Publication type:

Article

Gene Therapy For Beta-Thalassemia: Updated Perspectives.

Published in:

Application of Clinical Genetics, 2019, v. 12, p. 167, doi. 10.2147/TACG.S178546

By:

Karponi, Garyfalia;
Zogas, Nikolaos

Publication type:

Article

ACE gene polymorphism and its association with serum erythropoietin and hemoglobin ‎in Iraqi hemodialysis patients.

Published in:

Application of Clinical Genetics, 2019, v. 12, p. 107, doi. 10.2147/TACG.S198992

By:

Al-Radeef, Mohanad Yasir;
Fawzi, Hayder Adnan;
Allawi, Ali Abdulmajid

Publication type:

Article

Polymorphisms of CYP2C92, CYP2C93 and VKORC1 genes related to time in therapeutic range in patients with atrial fibrillation using warfarin.

Published in:

Application of Clinical Genetics, 2019, v. 12, p. 151, doi. 10.2147/TACG.S197316

By:

Silveira, Maria Mariana Barros Melo da;
Melo, Leiliandry de Araújo;
Gomes, Filipe Maia Ferreira;
Andrade, Leonardo José de Cupertino Barreto da Rocha;
Serur, Isabela Paulino;
Piscoya, Isabelle Cecília de Vasconcellos;
Gueiros, Raposo Marina;
Ó, Kleyton Palmeira do;
Lima, Raul Emídio de;
Brasileiro, Victor Arthur Eulálio;
Vasconcelos, Luydson Richardson Silva;
Filho, Dário Celestino Sobral

Publication type:

Article

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

Published in:

Application of Clinical Genetics, 2019, v. 12, p. 181, doi. 10.2147/TACG.S213818

By:

Alkhatib, Rami;
Abudhaim, Nada;
AL-Eitan, Laith;
Abdo, Nour;
Alqudah, Asem;
Aman, Hatem

Publication type:

Article

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

Published in:

Application of Clinical Genetics, 2019, v. 12, p. 229, doi. 10.2147/TACG.S202498

By:

Ngoufack, Marie Nicole;
Nkenfou, Céline Nguefeu;
Tiedeu, Barbara Atogho;
Mouafo, Linda Chapdeleine Mekue;
Dambaya, Beatrice;
Ndzi, Elvis Ndukong;
Kouanfack, Charles;
Nguefack-Tsague, Georges;
Mbacham, Wilfred Fon;
Ndjolo, Alexis

Publication type:

Article

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

Published in:

Application of Clinical Genetics, 2019, v. 12, p. 87, doi. 10.2147/TACG.S199092

By:

Eneli, Ihuoma;
Xu, Jinyu;
Webster, Matthew;
McCagg, Amy;
Ploeg, Lex Van Der;
Garfield, Alastair S;
Estrada, Elizabeth

Publication type:

Article

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

Published in:

Application of Clinical Genetics, 2019, v. 12, p. 221, doi. 10.2147/TACG.S226664

By:

AL-Eitan, Laith N;
Momani, Rawan O Al;
Momani, Khalid K Al;
Warawrah, Ahmad M Al;
Aljamal, Hanan A;
Alghamdi, Mansour A;
Muhanna, Alsharif M;
Al-Qarqaz, Firas A

Publication type:

Article

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

Published in:

Application of Clinical Genetics, 2019, v. 12, p. 191, doi. 10.2147/TACG.S180450

By:

Samango-Sprouse, Carole A;
Counts, Debra R;
Tran, Selena L;
Lasutschinkow, Patricia C;
Porter, Grace F;
Gropman, Andrea L

Publication type:

Article

Ketogenic diet in ATAD3A mutation carriers may not improve cerebellar atrophy but some clinical features [Letter].

Published in:

Application of Clinical Genetics, 2019, v. 12, p. 161, doi. 10.2147/TACG.S221407

By:

Finsterer, Josef

Publication type:

Article

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

Published in:

Application of Clinical Genetics, 2019, v. 12, p. 141, doi. 10.2147/TACG.S190661

By:

Candelo, Estephania;
Caicedo, Gabriela;
Rosso, Fernando;
Ballesteros, Adriana;
Orrego, Jaime;
Escobar, Luis;
Lapunzina, Pablo;
Nevado, Julían;
Pachajoa, Harry

Publication type:

Article

Current understanding and treatment of cardiac and skeletal muscle pathology in laminin-α2 chain-deficient congenital muscular dystrophy.

Published in:

Application of Clinical Genetics, 2019, v. 12, p. 113, doi. 10.2147/TACG.S187481

By:

Nguyen, Quynh;
Lim, Kenji Rowel Q;
Yokota, Toshifumi

Publication type:

Article

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

Published in:

Application of Clinical Genetics, 2019, v. 12, p. 79, doi. 10.2147/TACG.S194204

By:

Madhoun, Ashraf Al;
Alnaser, Fahad;
Melhem, Motasem;
Nizam, Rasheeba;
Al-Dabbous, Tala;
Al-Mulla, Fahd

Publication type:

Article

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

Published in:

Application of Clinical Genetics, 2019, v. 12, p. 163, doi. 10.2147/TACG.S224520

By:

Madhoun, Ashraf Al;
Alnaser, Fahad;
Melhem, Motasem;
Nizam, Rasheeba;
Al-Dabbous, Tala;
Al-Mulla, Fahd

Publication type:

Article

Pharmacogenetics of alcohol addiction: current perspectives.

Published in:

Application of Clinical Genetics, 2019, v. 12, p. 131, doi. 10.2147/TACG.S206745

By:

Zastrozhin, M S;
Skryabin, V Yu;
Miroshkin, S S;
Bryun, E A;
Sychev, D A

Publication type:

Article

Barth syndrome: mechanisms and management.

Published in:

Application of Clinical Genetics, 2019, v. 12, p. 95, doi. 10.2147/TACG.S171481

By:

Finsterer, Josef

Publication type:

Article

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

Published in:

Application of Clinical Genetics, 2019, v. 12, p. 63, doi. 10.2147/TACG.S198593

By:

Eaaswarkhanth, Muthukrishnan;
Melhem, Motasem;
Sharma, Prem;
Nizam, Rasheeba;
Madhoun, Ashraf Al;
Chaubey, Gyaneshwer;
Alsmadi, Osama;
AlOzairi, Ebaa;
Al-Mulla, Fahd

Publication type:

Article

Correlates of genetic attributions among parents of children in the USA with developmental disabilities.

Published in:

Application of Clinical Genetics, 2019, v. 12, p. 55, doi. 10.2147/TACG.S164757

By:

Kiely, Bridget;
Vettam, Sujit;
Adesman, Andrew

Publication type:

Article

Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype–phenotype correlations.

Published in:

Application of Clinical Genetics, 2019, v. 12, p. 35, doi. 10.2147/TACG.S146022

By:

Oliveira, João Paulo;
Ferreira, Susana

Publication type:

Article

MTHFR C677T polymorphism and risk of nonsyndromic cleft lip with or without cleft palate in the Moroccan population.

Published in:

Application of Clinical Genetics, 2019, v. 12, p. 51, doi. 10.2147/TACG.S194166

By:

Rafik, Amine;
Rachad, Laila;
Kone, Abdou-samad;
Nadifi, Sellama

Publication type:

Article

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

Published in:

Application of Clinical Genetics, 2019, v. 12, p. 71, doi. 10.2147/TACG.S202942

By:

Pirazzi, Carlo;
Håkansson, Lina;
Gustafsson, Carola;
Omerovic, Elmir;
Wiklund, Olov;
Mancina, Rosellina Margherita

Publication type:

Article

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

Published in:

Application of Clinical Genetics, 2019, v. 12, p. 19, doi. 10.2147/TACG.S190855

By:

Goumenos, Athanasios;
Tsoutsou, Eirini;
Traeger-Synodinos, Joanne;
Petychakis, Dimitrios;
Gavra, Maria;
Kolialexi, Angeliki;
Frysira, Helena

Publication type:

Article

Genetics of COPA syndrome.

Published in:

Application of Clinical Genetics, 2019, v. 12, p. 11, doi. 10.2147/TACG.S153600

By:

Kumrah, Rajni;
Mathew, Babu;
Vignesh, Pandiarajan;
Singh, Surjit;
Rawat, Amit

Publication type:

Article

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

Published in:

Application of Clinical Genetics, 2019, v. 12, p. 27, doi. 10.2147/TACG.S190599

By:

Salomon, Ophira;
Barel, Ortal;
Eyal, Eran;
Ganor, Reut Shnerb;
Kleinbaum, Yeroham;
Shohat, Mordechai

Publication type:

Article

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

Published in:

Application of Clinical Genetics, 2019, v. 12, p. 1, doi. 10.2147/TACG.S187922

By:

Mancina, Rosellina Margherita;
Ferri, Flaminia;
Farcomeni, Alessio;
Molinaro, Antonio;
Maffongelli, Angela;
Mischitelli, Monica;
Poli, Edoardo;
Parlati, Lucia;
Burza, Maria Antonella;
Santis, Adriano De;
Attilia, Fabio;
Rotondo, Claudia;
Rando, Maria Margherita;
Attilia, Maria Luisa;
Ceccanti, Mauro;
Corradini, Stefano Ginanni

Publication type:

Article