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Balkan Journal of Medical Genetics

Tom 20 (2017): Zeszyt 2 (Grudzień 2017)

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14 Artykułów

Original Article

Otwarty dostęp | 29 gru 2017
Detection of allelic variants of the POLE and POLD1 genes in colorectal cancer patients
LA Pätzold

LA Pätzold

Institute of Oncology, Riga Stradiņš UniversityRiga, Latvia
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Pätzold, LA
, 
D Bērziņa

D Bērziņa

Institute of Oncology, Riga Stradiņš UniversityRiga, Latvia
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Bērziņa, D
, 
Z Daneberga

Z Daneberga

Institute of Oncology, Riga Stradiņš UniversityRiga, Latvia
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Daneberga, Z
, 
J Gardovskis

J Gardovskis

Institute of Oncology, Riga Stradiņš UniversityRiga, Latvia
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Gardovskis, J
 oraz 
E Miklaševičs

E Miklaševičs

Institute of Oncology, Riga Stradiņš UniversityRiga, Latvia
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Miklaševičs, E
  
Otwarty dostęp | 29 gru 2017
Differential expression of FGFRs signaling pathway components in bladder cancer: A step toward personalized medicine
Z Ousati Ashtiani

Z Ousati Ashtiani

  • Urology Research Center, Tehran University of Medical SciencesTehran, Iran
  • Department of Medical Genetics, School of Medicine, Tehran University of Medical SciencesTehran, Iran
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Ousati Ashtiani, Z
, 
J Tavakkoly-Bazzaz

J Tavakkoly-Bazzaz

Department of Medical Genetics, School of Medicine, Tehran University of Medical SciencesTehran, Iran
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Tavakkoly-Bazzaz, J
, 
SA Salami

SA Salami

Department of Biotechnology, University of TehranTehran, Iran
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Salami, SA
, 
MR Pourmand

MR Pourmand

Division of Microbiology, Department of Pathobiology, School of Public Health, Tehran University of Medical SciencesTehran, Iran
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Pourmand, MR
, 
F Mansouri

F Mansouri

  • Department of Medical Immunology and Genetics, Faculty of Medicine, Urmia University of Medical SciencesUrmia, Iran
  • Cellular and Molecular Research Center, Urmia University of Medical SciencesUrmia, Iran
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Mansouri, F
, 
R Mashahdi

R Mashahdi

Urology Research Center, Tehran University of Medical SciencesTehran, Iran
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Mashahdi, R
 oraz 
G Pourmand

G Pourmand

Urology Research Center, Tehran University of Medical SciencesTehran, Iran
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Pourmand, G
  
Otwarty dostęp | 29 gru 2017
Superoxide dismutase 1 and 2 gene polymorphism in Turkish vitiligo patients
A Tuna

A Tuna

Department of Dermatology and Venerology, Faculty of Medicine, Ege UniversityIzmir, Turkey
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Tuna, A
, 
G Ozturk

G Ozturk

Department of Dermatology and Venerology, Faculty of Medicine, Ege UniversityIzmir, Turkey
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Ozturk, G
, 
TB Gerceker

TB Gerceker

Department of Dermatology and Venerology, Faculty of Medicine, Ege UniversityIzmir, Turkey
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Gerceker, TB
, 
E Karaca

E Karaca

Department of Genetics, Faculty of Medicine, Ege UniversityIzmir, Turkey
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Karaca, E
, 
H Onay

H Onay

Department of Genetics, Faculty of Medicine, Ege UniversityIzmir, Turkey
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Onay, H
, 
SM Guvenc

SM Guvenc

Department of Genetics, Faculty of Medicine, Ege UniversityIzmir, Turkey
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Guvenc, SM
 oraz 
O Cogulu

O Cogulu

Department of Genetics, Faculty of Medicine, Ege UniversityIzmir, Turkey
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Cogulu, O
  
Otwarty dostęp | 29 gru 2017
Association of the MMP7 –181A>G promoter polymorphism with early onset of chronic obstructive pulmonary disease
T Tacheva

T Tacheva

Department of Chemistry and Biochemistry, Medical Faculty, Trakia UniversityStara Zagora, Bulgaria
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Tacheva, T
, 
D Dimov

D Dimov

Department of Internal Medicine, Medical Faculty, Trakia UniversityStara Zagora, Bulgaria
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Dimov, D
, 
A Anastasov

A Anastasov

Department of Chemistry and Biochemistry, Medical Faculty, Trakia UniversityStara Zagora, Bulgaria
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Anastasov, A
, 
Y Zhelyazkova

Y Zhelyazkova

Department of Internal Medicine, Medical Faculty, Trakia UniversityStara Zagora, Bulgaria
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Zhelyazkova, Y
, 
M Kurzawski

M Kurzawski

Department of Experimental and Clinical Pharmacology, Pomeranian Medical UniversitySzczecin, Poland
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Kurzawski, M
, 
M Gulubova

M Gulubova

Department of General and Clinical Pathology, Medical Faculty, Trakia UniversityStara Zagora, Bulgaria
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Gulubova, M
, 
M Drozdzik

M Drozdzik

Department of Experimental and Clinical Pharmacology, Pomeranian Medical UniversitySzczecin, Poland
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Drozdzik, M
 oraz 
T Vlaykova

T Vlaykova

Department of Chemistry and Biochemistry, Medical Faculty, Trakia UniversityStara Zagora, Bulgaria
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Vlaykova, T
  
Otwarty dostęp | 29 gru 2017
Increased frequency of MEFV genes in patients with epigastric pain syndrome
BD Coskun

BD Coskun

Department of Gastroenterology, Kayseri Training and Research HospitalKayseri, Turkey
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Coskun, BD
, 
A Kiraz

A Kiraz

Department of Genetics, Kayseri Training and Research HospitalKayseri, Turkey
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Kiraz, A
, 
E Sevinc

E Sevinc

Department of Gastroenterology, Kayseri Training and Research HospitalKayseri, Turkey
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Sevinc, E
, 
O Baspinar

O Baspinar

Department of Internal Medicine, Kayseri Training and Research HospitalKayseri, Turkey
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Baspinar, O
 oraz 
E Cakmak

E Cakmak

Department of Gastroenterology, Cumhuriyet University, Faculty of MedicineSivas, Turkey
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Cakmak, E
  
Otwarty dostęp | 29 gru 2017
The mitochondrial COI/tRNASER(UCN) G7444A mutation may be associated with hearing impairment in a Han Chinese family
Y Ding

Y Ding

  • Central Laboratory, Hangzhou First People’s HospitalHangzhou, People’s Republic of China
  • Affiliated Hangzhou Hospital, Nanjing Medical UniversityHangzhou, People’s Republic of China
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Ding, Y
, 
B-H Xia

B-H Xia

Department of Pharmacy, Hunan Chinese Medical UniversityChangsha, People’s Republic of China
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Xia, B-H
, 
Y-S Teng

Y-S Teng

  • Affiliated Hangzhou Hospital, Nanjing Medical UniversityHangzhou, People’s Republic of China
  • Department of Otolaryngology, Hangzhou First People’s HospitalHangzhou, People’s Republic of China
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Teng, Y-S
, 
G-C Zhuo

G-C Zhuo

  • Central Laboratory, Hangzhou First People’s HospitalHangzhou, People’s Republic of China
  • Affiliated Hangzhou Hospital, Nanjing Medical UniversityHangzhou, People’s Republic of China
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Zhuo, G-C
 oraz 
J-H Leng

J-H Leng

  • Central Laboratory, Hangzhou First People’s HospitalHangzhou, People’s Republic of China
  • Affiliated Hangzhou Hospital, Nanjing Medical UniversityHangzhou, People’s Republic of China
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Leng, J-H
  
Otwarty dostęp | 29 gru 2017
Polymorphism of the ADRB2 rs1042713 gene is not associated with spontaneous preterm birth: Analyses in a Slovenian sample and meta analysis
A Peterlin

A Peterlin

Clinical Institute of Medical Genetics, University Medical Centre LjubljanaLjubljana, Slovenia
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Peterlin, A
, 
A Maver

A Maver

Clinical Institute of Medical Genetics, University Medical Centre LjubljanaLjubljana, Slovenia
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Maver, A
, 
Z Jan

Z Jan

Department of Perinatology, Division of Obstetrics and Gynecology, University Medical Centre LjubljanaLjubljana, Slovenia
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Jan, Z
, 
L Lovrecic

L Lovrecic

Clinical Institute of Medical Genetics, University Medical Centre LjubljanaLjubljana, Slovenia
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Lovrecic, L
, 
N Tul

N Tul

Department of Perinatology, Division of Obstetrics and Gynecology, University Medical Centre LjubljanaLjubljana, Slovenia
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Tul, N
 oraz 
B Peterlin

B Peterlin

Clinical Institute of Medical Genetics, University Medical Centre LjubljanaLjubljana, Slovenia
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Peterlin, B
  
Otwarty dostęp | 29 gru 2017
Association between Osteoprotegerin gene polymorphisms and risk of coronary artery disease: A systematic review and meta-analysis
P Jia

P Jia

Department of Cardiology, the First Affiliated Hospital of China, Medical UniversityShenyang, People’s Republic of China
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Jia, P
, 
N Wu

N Wu

Department of Cardiology, the First Affiliated Hospital of China, Medical UniversityShenyang, People’s Republic of China
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Wu, N
, 
D Jia

D Jia

Department of Cardiology, the First Affiliated Hospital of China, Medical UniversityShenyang, People’s Republic of China
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Jia, D
 oraz 
Y Sun

Y Sun

Department of Cardiology, the First Affiliated Hospital of China, Medical UniversityShenyang, People’s Republic of China
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Sun, Y
  
Otwarty dostęp | 29 gru 2017
Molecular characterization of iranian patients with inherited coagulation factor VII deficiency
S Shahbazi

S Shahbazi

Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University TehranTehran, Iran
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Shahbazi, S
, 
R Mahdian

R Mahdian

Molecular Medicine Department, Pasteur Institute of IranTehran, Iran
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Mahdian, R
, 
K Karimi

K Karimi

Clinic of Hematology and Oncology, School of Medical Sciences, Tehran University of Medical SciencesTehran, Iran
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Karimi, K
 oraz 
A Mashayekhi

A Mashayekhi

Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University TehranTehran, Iran
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Mashayekhi, A
  
Otwarty dostęp | 29 gru 2017
Association between inherited thrombophilia in pregnancy and micronucleus frequency in peripheral blood lymphocytes
GM Šošić

GM Šošić

Department of Cytogenetic Diagnosis, Obstetrics and Gynecology Clinic, Clinical Center “Kragujevac,”Kragujevac, Serbia
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Šošić, GM
, 
N Jović

N Jović

  • Faculty of Medical Sciences, University of KragujevacKragujevac, Serbia
  • Department of Pathology of Pregnancy, Obstetrics and Gynecology Clinic, Clinical Center “Kragujevac,”Kragujevac, Serbia
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Jović, N
, 
B Rakić

B Rakić

Department of Medical Survey, Institute of Occupational Health “Dr Dragomir Karajović,”Belgrade, Serbia
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Rakić, B
, 
A Dimitrijević

A Dimitrijević

  • Faculty of Medical Sciences, University of KragujevacKragujevac, Serbia
  • Department of Fertility Control, Obstetrics and Gynecology Clinic, Clinical Center “Kragujevac,”Kragujevac, Serbia
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Dimitrijević, A
 oraz 
M Varjačić

M Varjačić

  • Faculty of Medical Sciences, University of KragujevacKragujevac, Serbia
  • Department of Pathology of Pregnancy, Obstetrics and Gynecology Clinic, Clinical Center “Kragujevac,”Kragujevac, Serbia
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Varjačić, M
  
Otwarty dostęp | 29 gru 2017
Association of placenta previa with a history of previous Cesarian deliveries and indications for a possible role of a genetic component
M Matalliotakis

M Matalliotakis

Department of Obstetrics and Gynecology, Venizeleio General HospitalHeraklion, Greece
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Matalliotakis, M
, 
A Velegrakis

A Velegrakis

Department of Obstetrics and Gynecology, Venizeleio General HospitalHeraklion, Greece
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Velegrakis, A
, 
GN Goulielmos

GN Goulielmos

Section of Molecular Pathology and Human Genetics, Department of Internal Medicine, School of Medicine, University of CreteHeraklion, Greece
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Goulielmos, GN
, 
E Niraki

E Niraki

Department of Obstetrics and Gynecology, Venizeleio General HospitalHeraklion, Greece
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Niraki, E
, 
AE Patelarou

AE Patelarou

Department of Nursing, Technological and Educational Institute of CreteHeraklion, Greece
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Patelarou, AE
 oraz 
I Matalliotakis

I Matalliotakis

Department of Obstetrics and Gynecology, Venizeleio General HospitalHeraklion, Greece
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Matalliotakis, I
  

Letter to the Editor

Otwarty dostęp | 29 gru 2017
Female and male carriers of TAZ mutations need to be thoroughly investigated
J Finsterer

J Finsterer

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Finsterer, J
, 
C Stollberger

C Stollberger

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Stollberger, C
, 
M Bakšienė

M Bakšienė

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Bakšienė, M
, 
E Benušienė

E Benušienė

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Benušienė, E
, 
A Morkūnienė

A Morkūnienė

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Morkūnienė, A
, 
L Ambrozaitytė

L Ambrozaitytė

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Ambrozaitytė, L
, 
A Utkus

A Utkus

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Utkus, A
 oraz 
V Kučinskas

V Kučinskas

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Kučinskas, V
  
Otwarty dostęp | 29 gru 2017
Epidermal growth factor receptor Mutation status: Does younger mean more frequently mutated?
P Wójcik

P Wójcik

Oncogene Diagnostics LLCKraków, Poland
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Wójcik, P
, 
P Krawczyk

P Krawczyk

Department of Pneumonology, Oncology and Allergology, Medical University of LublinLublin, Poland
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Krawczyk, P
, 
J Chorostowska-Wynimko

J Chorostowska-Wynimko

National Institute of Tuberculosis and Lung DiseasesWarsaw, Poland
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Chorostowska-Wynimko, J
, 
K Reszka

K Reszka

Genetics and Immunology Laboratory Genim LLCLublin, Poland
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Reszka, K
, 
K Duk

K Duk

National Institute of Tuberculosis and Lung DiseasesWarsaw, Poland
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Duk, K
, 
B Muszczyńska-Bernhard

B Muszczyńska-Bernhard

Department of Pathology, Lower Silesian Center of Lung DiseasesWroclaw, Poland
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Muszczyńska-Bernhard, B
, 
J Pankowski

J Pankowski

Department of Pathology, Pulmonary HospitalZakopane, Poland
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Pankowski, J
, 
K Wojas-Krawczyk

K Wojas-Krawczyk

Department of Pneumonology, Oncology and Allergology, Medical University of LublinLublin, Poland
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Wojas-Krawczyk, K
, 
G Czyżewicz

G Czyżewicz

Oncology Department, John Paul II HospitalKraków, Poland
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Czyżewicz, G
, 
R Ramlau

R Ramlau

Department of Clinical Oncology, Poznan University of Medical SciencePoznan, Poland
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Ramlau, R
, 
M Skoczek

M Skoczek

Oncology Department, John Paul II HospitalKraków, Poland
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Skoczek, M
, 
A Grenda

A Grenda

Department of Pneumonology, Oncology and Allergology, Medical University of LublinLublin, Poland
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Grenda, A
, 
T Orłowski

T Orłowski

National Institute of Tuberculosis and Lung DiseasesWarsaw, Poland
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Orłowski, T
, 
T Grodzki

T Grodzki

Department of Thoracic Surgery and Transplantation, Pomeranian Medical UniversitySzczecin Zdunowo, Poland
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Grodzki, T
, 
M Piwowar

M Piwowar

Department of Bioinformatics and Telemedicine, Jagiellonian University Medical CollegeKraków, Poland
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Piwowar, M
, 
K Roszkowski-Śliż

K Roszkowski-Śliż

National Institute of Tuberculosis and Lung DiseasesWarsaw, Poland
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Roszkowski-Śliż, K
 oraz 
J Milanowski

J Milanowski

Department of Pneumonology, Oncology and Allergology, Medical University of LublinLublin, Poland
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Milanowski, J
  

Case Report

Otwarty dostęp | 29 gru 2017
Galactosialidosis in a newborn with a novel mutation in the CTSA gene presenting with transient hyperparathyroidism
E Okulu

E Okulu

Department of Pediatrics, Division of Neonatology, Ankara University School of MedicineAnkara, Turkey
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Okulu, E
, 
G Tunc

G Tunc

Department of Pediatrics, Division of Neonatology, Ankara University School of MedicineAnkara, Turkey
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Tunc, G
, 
T Eminoglu

T Eminoglu

Department of Pediatrics, Division of Pediatric Metabolism, Ankara University School of MedicineAnkara, Turkey
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Eminoglu, T
, 
O Erdeve

O Erdeve

Department of Pediatrics, Division of Neonatology, Ankara University School of MedicineAnkara, Turkey
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Erdeve, O
, 
B Atasay

B Atasay

Department of Pediatrics, Division of Neonatology, Ankara University School of MedicineAnkara, Turkey
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Atasay, B
 oraz 
S Arsan

S Arsan

Department of Pediatrics, Division of Neonatology, Ankara University School of MedicineAnkara, Turkey
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Arsan, S
  

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