M. Trkovà: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

Don't use scam websites

1

TP53 Gene Mutations Are Rare in Nondysplastic Barrett's Esophagus

Kamila Novotna, Marie Trkova, Alexandr Pazdro, Milan Smejkal, Alzbeta Soukupova, Daniela Kodetova, Premysl Smejkal, Zdenek Sedlacek

Journal:

Digestive Diseases and Sciences

Year:

2006

Language:

english

File:

PDF, 57 KB

english, 2006

2

Genome-wide uniparental diploidy of all paternal chromosomes in an 11-year-old girl with deafness and without malignancy

Borgulová, Irena, Soldatova, Inna, Putzová, Martina, Malíková, Marcela, Neupauerová, Jana, Marková, Simona Poisson, Trková, Marie, Seeman, Pavel

Journal:

Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 1.26 MB

english, 2018

3

Telomere length in peripheral blood cells of germline TP53 mutation carriers is shorter than that of normal individuals of corresponding age

Marie Trkova, Kamila Prochazkova, Vera Krutilkova, David Sumerauer, Zdenek Sedlacek

Journal:

Year:

2007

Language:

english

File:

PDF, 185 KB

english, 2007

4

Is there anticipation in the age at onset of cancer in families with Li-Fraumeni syndrome?

M. Trkova, M. Hladikova, P. Kasal, P. Goetz, Z. Sedlacek

Journal:

Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 53 KB

english, 2002

5

OC28.03: Whole-genome SNP array analysis in routine prenatal diagnosis of chromosomal abnormalities - a one-year experience

M. Hynek, M. Trkova, V. Becvarova, J. Horacek, M. Putzova, E. Kulovany, M. Matouskova, D. Smetanova, V. Krutilkova, M. Hejtmankova, D. Raskova, E. Hlavova, D. Stejskal

Journal:

Ultrasound in Obstetrics & Gynecology

Year:

2011

Language:

english

File:

PDF, 50 KB

english, 2011

6

A Li-Fraumeni syndrome family with retained heterozygosity for a germline TP53 mutation in two tumors

Marie Trkova, Lenka Foretova, Roman Kodet, Petra Hedvicakova, Zdenek Sedlacek

Journal:

Cancer Genetics and Cytogenetics

Year:

2003

Language:

english

File:

PDF, 259 KB

english, 2003

7

The Application of Comparative Genomic Hybridization to Previously Karyotyped Cervical Cancer Cell Lines

Angela Thein, Marie Trková, Margaret Fox, Jennifer Parrington

Journal:

Cancer Genetics and Cytogenetics

Year:

2000

Language:

english

File:

PDF, 813 KB

english, 2000

8

Increased micronuclei frequencies in couples with reproductive failure

Marie Trková, Jan Kapras, Klára Bobková, Jana Stan̆ková, Blanka Mejsnarová

Journal:

Reproductive Toxicology

Year:

2000

Language:

english

File:

PDF, 228 KB

english, 2000

9

Mechanism and Genotype-Phenotype Correlation of Two Proximal 6q Deletions Characterized Using mBAND, FISH, Array CGH, and DNA Sequencing

Vlckova, M., Trkova, M., Zemanova, Z., Hancarova, M., Novotna, D., Raskova, D., Puchmajerova, A., Drabova, J., Zmitkova, Z., Tan, Y.

Journal:

Cytogenetic and Genome Research

Year:

2012

Language:

english

File:

PDF, 572 KB

english, 2012

10

SNP array and phenotype correlation shows that FLI1 deletion per se is not responsible for thrombocytopenia development in Jacobsen syndrome

Marie Trkova, Vera Becvarova, Martin Hynek, Lenka Hnykova, Eva Hlavova, Gabriela Kreckova, Eduard Kulovany, David Cutka, Jitka Zatloukalova, Kristyna Markova, Martina Sukova, Jiri Horacek, David Stejs

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 564 KB

english, 2012

11

OP28.09: Prenatal detection of Williams-Beuren syndrome using SNP array: report of two cases

M. Hynek, D. Smetanova, M. Trkova, V. Becvarova, E. Hlavova, D. Stejskal

Journal:

Ultrasound in Obstetrics & Gynecology

Year:

2012

Language:

english

File:

PDF, 58 KB

english, 2012

12

Direct pair production by positive and negative electrons in a hydrogen bubble chamber

J. Böhm, A. Mátlová, J. Trková, Z. Trka

Journal:

Nuclear Physics B

Year:

1973

Language:

english

File:

PDF, 445 KB

english, 1973

13

Increased sperm aneuploidy in two male carriers of germline TP53 mutations

Petra Paulasova, Jan Diblik, Marie Trkova, Milan Macek Sr., Zdenek Sedlacek

Journal:

Cancer Genetics

Year:

2011

Language:

english

File:

PDF, 134 KB

english, 2011

14

Analysis of genetic events in 17p13 and 9p21 regions supports predominant monoclonal origin of multifocal and recurrent bladder cancer

Marie Trkova, Marko Babjuk, Jaroslava Duskova, Lucie Benesova-Minarikova, Viktor Soukup, Jaroslav Mares, Marek Minarik, Zdenek Sedlacek

Journal:

Year:

2006

Language:

english

File:

PDF, 114 KB

english, 2006

15

Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations

Vera Krutilkova, Marie Trkova, Julie Fleitz, Vladimir Gregor, Kamila Novotna, Anna Krepelova, David Sumerauer, Roman Kodet, Simona Siruckova, Pavlina Plevova, Sarka Bendova, Petra Hedvicakova, Nichola

Journal:

European Journal of Cancer

Year:

2005

Language:

english

File:

PDF, 463 KB

english, 2005

16

Identification of a patient with intellectual disability and de novo 3.7Mb deletion supports the existence of a novel microdeletion syndrome in 2p14–p15

Hancarova, Miroslava, Vejvalkova, Sarka, Trkova, Marie, Drabova, Jana, Dleskova, Alzbeta, Vlckova, Marketa, Sedlacek, Zdenek

Journal:

Year:

2013

Language:

english

File:

PDF, 413 KB

english, 2013

17

DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population

D Šafka Brožková, J Laštůvková, H Štěpánková, M Krůtová, M Trková, P Myška, P Seeman

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 580 KB

english, 2012

18

DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family

Dana Šafka Brožková, Jana Laštůvková, Eliška Machalová, Jana Lisoňová, Marie Trková, Pavel Seeman

Journal:

International Journal of Pediatric Otorhinolaryngology

Year:

2012

Language:

english

File:

PDF, 328 KB

english, 2012

19

P25 PGD in families with Robertsonian translocation of chromosomes 13 and 14 – our experience with 11 couples

H. Peková, N. Jenčíková, M. Trkovà, V. Bečvářová, V. Nedomová, J. Horáček, J. Míka, A. Langerová, D. Stejskal

Journal:

Reproductive BioMedicine Online

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

20

P10.05: A contribution of SNP array in prenatal diagnosis in 2010-2013

Brezinova, S., Smetanova, D., Hynek, M., Hlavova, E., Becvarova, V., Trkova, M., Stejskal, D.

Journal:

Ultrasound in Obstetrics & Gynecology

Year:

2014

Language:

english

File:

PDF, 58 KB

english, 2014

21

Coarctation of the aorta in Noonan-like syndrome with loose anagen hair

Zmolikova, Michaela, Puchmajerova, Alena, Hecht, Petr, Lebl, Jan, Trkova, Marie, Krepelova, Anna

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 1.33 MB

english, 2014

22

ISPD gene homozygous deletion identified by SNP array confirms prenatal manifestation of Walker–Warburg syndrome

Trkova, Marie, Krutilkova, Vera, Smetanova, Dagmar, Becvarova, Vera, Hlavova, Eva, Jencikova, Nada, Hodacova, Jana, Hnykova, Lenka, Hroncova, Hana, Horacek, Jiri, Stejskal, David

Journal:

European Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 485 KB

english, 2015

23

Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3

Liskova, Petra, Evans, Cerys J, Davidson, Alice E, Zaliova, Marketa, Dudakova, Lubica, Trkova, Marie, Stranecky, Viktor, Carnt, Nicole, Plagnol, Vincent, Vincent, Andrea L, Tuft, Stephen J, Hardcastle

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.00 MB

english, 2015

24

Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease

Trkova, Marie, Hynek, Martin, Dudakova, Lubica, Becvarova, Vera, Hlozanek, Martin, Raskova, Dagmar, Vincent, Andrea L., Liskova, Petra

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 510 KB

english, 2016

25

A Rare Variant of Turner Syndrome in Four Sequential Generations: Effect of the Interplay of Growth Hormone Treatment and Estrogens on Body Proportion

Stoklasova, Judith, Kaprova, Jana, Trkova, Marie, Nedomova, Vera, Zemkova, Dana, Matyskova, Jana, Soucek, Ondrej, Sumnik, Zdenek, Lebl, Jan

Journal:

Hormone Research in Paediatrics

Year:

2016

Language:

english

File:

PDF, 245 KB

english, 2016

26

HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 8

Šafka Brožková, Dana, Paulasová Schwabová, Jaroslava, Neupauerová, Jana, Sabová, Jana, Krůtová, Marcela, Peřina, Vladimír, Trková, Marie, Laššuthová, Petra, Seeman, Pavel

Journal:

Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 707 KB

english, 2017

27

Common Variable Immunodeficiency patients with a phenotypic profile of immunosenescence present with thrombocytopenia

Stuchlý, Jan, Kanderová, Veronika, Vlková, Marcela, Heřmanová, Ivana, Slámová, Lucie, Pelák, Ondřej, Taraldsrud, Eli, Jílek, Dalibor, Králíčková, Pavlína, Fevang, Børre, Trková, Marie, Hrušák, Ondřej

Journal:

Scientific Reports

Year:

2017

Language:

english

File:

PDF, 1.82 MB

english, 2017

28

Monitoring of childhood ALL using BCR-ABL1 genomic breakpoints identifies a subgroup with CML-like biology

Hovorkova, Lenka, Zaliova, Marketa, Venn, Nicola C., Bleckmann, Kirsten, Trkova, Marie, Potuckova, Eliska, Vaskova, Martina, Linhartova, Jana, Machova Polakova, Katerina, Fronkova, Eva, Muskovic, Walt

Journal:

Year:

2017

Language:

english

File:

PDF, 1.04 MB

english, 2017

29

Erratum: Common Variable Immunodeficiency patients with a phenotypic profile of immunosenescence present with thrombocytopenia

Stuchlý, Jan, Kanderová, Veronika, Vlková, Marcela, Heřmanová, Ivana, Slámová, Lucie, Pelák, Ondřej, Taraldsrud, Eli, Jílek, Dalibor, Králíčková, Pavlína, Fevang, Børre, Trková, Marie, Hrušák, Ondřej,

Journal:

Scientific Reports

Year:

2017

Language:

english

File:

PDF, 122 KB

english, 2017

30

Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56∗) CRYGD variant in a family with dominantly inherited congenital cataracts

Dudakova, Lubica, Stranecky, Viktor, Ulmanova, Olga, Hlavova, Eva, Trková, Marie, Vincent, Andrea L., Liskova, Petra

Journal:

Molecular Biology Reports

Year:

2017

Language:

english

File:

PDF, 868 KB

english, 2017

31

Correction to: Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56*) CRYGD variant in a family with dominantly inherited congenital cataracts

Dudakova, Lubica, Stranecky, Viktor, Ulmanova, Olga, Hlavova, Eva, Trková, Marie, Vincent, Andrea L., Liskova, Petra

Journal:

Molecular Biology Reports

Year:

2017

Language:

english

File:

PDF, 471 KB

english, 2017

32

Familial Limbal Stem Cell Deficiency: Clinical, Cytological and Genetic Characterization

Dudakova, Lubica, Cheong, Sek-Shir, Merjava, Stanislava Reinstein, Skalicka, Pavlina, Michalickova, Marcela, Palos, Michalis, Mahelkova, Gabriela, Krizova, Deli, Hlozanek, Martin, Trkova, Marie, Chojn

Journal:

Stem Cell Reviews and Reports

Year:

2017

Language:

english

File:

PDF, 975 KB

english, 2017

33

STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population

Marková, Simona Poisson, Brožková, Dana Šafka, Laššuthová, Petra, Mészárosová, Anna, Krůtová, Marcela, Neupauerová, Jana, Rašková, Dagmar, Trková, Marie, Staněk, David, Seeman, Pavel

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2018

Language:

english

File:

PDF, 293 KB

english, 2018

34

Uniparental disomy testing in robertsonian translocation carriers

Trková, Marie, Soldátová, Inna, Sekowská, Martina, Bečvářová, Věra, Hodačová, Jana, Peková, Helena, Jenčíková, Nad'a, Diblík, Jan, Horáček, Jiří, Lánská, Vilma, Koudová, Monika

Journal:

Reproductive BioMedicine Online

Year:

2018

Language:

english

File:

PDF, 71 KB

english, 2018

35

Association of 17q24.2-q24.3 deletions with recognizable phenotype and short telomeres

Hancarova, Miroslava, Malikova, Marcela, Kotrova, Michaela, Drabova, Jana, Trkova, Marie, Sedlacek, Zdenek

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 612 KB

english, 2018

36

OC21.01: Whole-genome array as a first-tier cytogenetic test in routine prenatal diagnosis

Hynek, M., Trkova, M., Becvarova, V., Pekova, H., Mansfeldova, R., Koudova, M., Horacek, J.

Journal:

Ultrasound in Obstetrics & Gynecology

Year:

2017

Language:

english

File:

PDF, 40 KB

english, 2017

37

Early Diagnosis of the Chromosomal Deletion 5q14.2-q21.3 in a Preterm Newborn: Case Report

Petrackova, Irena, Prochazkova, Martina, Gregor, Vladimir, Trkova, Marie, Becvarova, Vera, Lisy, Jiri, Janota, Jan

Journal:

International Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 423 KB

english, 2013

38

Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patient

Uhrova Meszarosova, Anna, Safka Brozkova, Dana, Vyhnalek, Martin, Mazanec, Radim, Lastuvkova, Jana, Trkova, Marie, Bittoova, Martina, Soldatova, Inna, Seeman, Pavel

Journal:

Journal of Clinical Neuroscience

Year:

2018

Language:

english

File:

PDF, 473 KB

english, 2018

39

47. PGT-M IN FAMILIES CARRYING "DE NOVO" MUTATION BY COMBINATION OF EMBRYO SANGER SEQUENCING AND KARYOMAPPING

Becvarova, V., Soldatova, I., Linhartova, E., Trkova, M., Sekowska, M., Diblik, J., Koudova, M., Horacek, J., Bittoova, M., Stejskal, D.

Journal:

Reproductive BioMedicine Online

Year:

2019

Language:

english

File:

PDF, 46 KB

english, 2019

40

VP29.12: Cellâfree DNA testing in the detection of chromosomal aneuploidies in nonâviable pregnancies

Hynek, M., Trkova, M., BittÃ³ova, M., Koudova, M., Stejskal, D.

Journal:

Ultrasound in Obstetrics & Gynecology

Year:

2020

File:

PDF, 46 KB

2020