Volume Volume 12

The Application of Clinical Genetics

Volume Volume 12

1

Genetics of COPA syndrome

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

Journal:

The Application of Clinical Genetics

Year:

2019

Language:

english

File:

PDF, 1.19 MB

english, 2019

2

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

Oliveira, João Paulo, Ferreira, Susana

Journal:

The Application of Clinical Genetics

Year:

2019

File:

PDF, 1.37 MB

2019

3

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

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

Journal:

The Application of Clinical Genetics

Year:

2019

File:

PDF, 1.09 MB

2019

4

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

Oliveira, João Paulo, Ferreira, Susana

Journal:

The Application of Clinical Genetics

Year:

2019

Language:

english

File:

PDF, 1.37 MB

english, 2019

5

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

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

Journal:

The Application of Clinical Genetics

Year:

2019

Language:

english

File:

PDF, 1.09 MB

english, 2019

6

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

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

Journal:

The Application of Clinical Genetics

Year:

2019

File:

PDF, 559 KB

2019

7

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

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

Journal:

The Application of Clinical Genetics

Year:

2019

Language:

english

File:

PDF, 559 KB

english, 2019

8

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

Pirazzi, Carlo, Håkansson, Lina, Gustafsson, Carola, Omerovic, Elmir, Wiklund, Olov, Mancina, Rosellina M.

Journal:

The Application of Clinical Genetics

Year:

2019

Language:

english

File:

PDF, 349 KB

english, 2019

9

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

Kiely, Bridget, Vettam, Sujit, Adesman, Andrew

Journal:

The Application of Clinical Genetics

Year:

2019

Language:

english

File:

PDF, 241 KB

english, 2019

10

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

Pirazzi, Carlo, Håkansson, Lina, Gustafsson, Carola, Omerovic, Elmir, Wiklund, Olov, Mancina, Rosellina M.

Journal:

The Application of Clinical Genetics

Year:

2019

File:

PDF, 349 KB

2019

11

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

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

Journal:

The Application of Clinical Genetics

Year:

2019

Language:

english

File:

PDF, 535 KB

english, 2019

12

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

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

Journal:

The Application of Clinical Genetics

Year:

2019

Language:

english

File:

PDF, 1.15 MB

english, 2019

13

Barth syndrome: mechanisms and management

Finsterer, Josef

Journal:

The Application of Clinical Genetics

Year:

2019

Language:

english

File:

PDF, 372 KB

english, 2019

14

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

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

Journal:

The Application of Clinical Genetics

Year:

2019

Language:

english

File:

PDF, 2.20 MB

english, 2019

15

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

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

Journal:

The Application of Clinical Genetics

Year:

2019

Language:

english

File:

PDF, 1.15 MB

english, 2019

16

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

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

Journal:

The Application of Clinical Genetics

Year:

2019

Language:

english

File:

PDF, 499 KB

english, 2019

17

Pharmacogenetics of alcohol addiction: current perspectives

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

Journal:

The Application of Clinical Genetics

Year:

2019

Language:

english

File:

PDF, 361 KB

english, 2019

18

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

Silveira, Maria Mariana, Melo, Leiliandry de Araújo, Gomes, Filipe, Andrade, Leonardo José, Serur, Isabela, Piscoya, Isabelle, Gueiros, Raposo, Palmeira do Ó, Kleyton, Lima, Raul, Brasileiro, Victor A

Journal:

The Application of Clinical Genetics

Year:

2019

Language:

english

File:

PDF, 539 KB

english, 2019

19

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

Journal:

The Application of Clinical Genetics

Year:

2019

Language:

english

File:

PDF, 1.66 MB

english, 2019

20

Gene Therapy For Beta-Thalassemia: Updated Perspectives

Karponi, Garyfalia, Zogas, Nikolaos

Journal:

The Application of Clinical Genetics

Year:

2019

Language:

english

File:

PDF, 2.16 MB

english, 2019

21

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

Finsterer, Josef

Journal:

The Application of Clinical Genetics

Year:

2019

Language:

english

File:

PDF, 180 KB

english, 2019

22

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

Finsterer, Josef

Journal:

The Application of Clinical Genetics

Year:

2019

File:

PDF, 180 KB

2019

23

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

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

Journal:

The Application of Clinical Genetics

Year:

2019

Language:

english

File:

PDF, 193 KB

english, 2019

24

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

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

Journal:

The Application of Clinical Genetics

Year:

2019

Language:

english

File:

PDF, 3.07 MB

english, 2019

25

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

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

Journal:

The Application of Clinical Genetics

Year:

2019

Language:

english

File:

PDF, 1.56 MB

english, 2019

26

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

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

Journal:

The Application of Clinical Genetics

Year:

2019

File:

PDF, 193 KB

2019

27

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

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

Journal:

The Application of Clinical Genetics

Year:

2019

Language:

english

File:

PDF, 415 KB

english, 2019

28

COL2A1 Gene Mutations: Mechanisms of Spondyloepiphyseal Dysplasia Congenita

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

Journal:

The Application of Clinical Genetics

Year:

2019

Language:

english

File:

PDF, 264 KB

english, 2019

29

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

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

Journal:

The Application of Clinical Genetics

Year:

2019

File:

PDF, 932 KB

2019

30

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

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

Journal:

The Application of Clinical Genetics

Year:

2019

File:

PDF, 779 KB

2019

31

Spotlight on Warsaw Breakage Syndrome

Pisani, Francesca M

Journal:

The Application of Clinical Genetics

Year:

2019

File:

PDF, 696 KB

2019

32

COL2A1 Gene Mutations: Mechanisms of Spondyloepiphyseal Dysplasia Congenita

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

Journal:

The Application of Clinical Genetics

Year:

2019

File:

PDF, 264 KB

2019

33

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

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

Journal:

The Application of Clinical Genetics

Year:

2019

File:

PDF, 496 KB

2019

34

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

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

Journal:

The Application of Clinical Genetics

Year:

2019

File:

PDF, 387 KB

2019

35

TRIM5Î± 136Q, CCR5 Promoter 59029G And CCR264I Alleles Impact The Progression Of HIV In Children And Adolescents

Dambaya, BÃ©atrice, Nkenfou, CÃ©line Nguefeu, Mekue, Linda, TÃ©to, Georges, Ngoufack, Nicole, Ambada, Georgia, Flobert, Njiokou, Colizzi, Vittorio, Alexis, Ndjolo

Journal:

The Application of Clinical Genetics

Year:

2019

File:

PDF, 300 KB

2019