A. Puchmajerová

发表

A. Křepelová, A. Puchmajerová, P. Vasovčák, 2012, Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti.

Pontocerebellar hypoplasia type 1

S. Nelson, W. Reardon, F. Muntoni, 2013, Neurology.

[Our experience with analysis of the PTEN gene in patients suspected of having Cowden syndrome].

L. Forétova, A. Křepelová, M. Šenkeříková, 2010, Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti.

A novel mutation of PTEN gene in a patient with Cowden syndrome with excessive papillomatosis of the lips, discrete cutaneous lesions, and gastrointestinal polyposis.

L. Voska, A. Křepelová, J. Špičák, 2007, European journal of gastroenterology & hepatology.

Mutations in the STK 11 gene in Czech Peutz-Jeghers families

Ak, A. Puchmajerová, K. A., 2009 .

Mutations in STK11 gene in Czech Peutz-Jeghers patients

A. Křepelová, A. Puchmajerová, P. Vasovčák, 2009, BMC Medical Genetics.

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

M. Trková, J. Lebl, A. Křepelová, 2014, American journal of medical genetics. Part A.

Germline variants of the promyelocytic leukemia tumor suppressor gene in patients with familial cancer.

L. Forétova, J. Zapletalová, A. Křepelová, 2009, Neoplasma.

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

M. Trková, Z. Sedlacek, Z. Zemanová, 2011, Cytogenetic and Genome Research.

Inherited ichthyoses: molecular causes of the disease in Czech patients

K. Réblová, M. Hermanová, L. Fajkusová, 2019, Orphanet Journal of Rare Diseases.

Odontogenic keratocysts in the Basal Cell Nevus (Gorlin-Goltz) Syndrome associated with paresthesia of the lower jaw: Case report, retrospective analysis of a representative Czech cohort and recommendations for the early diagnosis.

R. Kodet, M. Macek, M. Havlovicová, 2016, Neuro endocrinology letters.

Fanconi anemia with biallelic FANCD1/BRCA2 mutations - Case report of a family with three affected children.

O. Hrusak, A. Vicha, R. Kodet, 2016, European journal of medical genetics.

[Fanconi Anemia, Complementation Group D1 Caused by Biallelic Mutations of BRCA2 Gene--Case Report].

L. Forétova, R. Kodet, D. Sumerauer, 2016, Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti.

Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease

J. Reiterová, J. Štekrová, T. Seeman, 2015, BMC Medical Genetics.

DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion

K. Õunap, O. Bartsch, A. Puchmajerová, 2003, American journal of medical genetics. Part A.

Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation

D. Mitter, C. Evers, S. Nampoothiri, 2016, Genetics in Medicine.

Unique mutational profile associated with a loss of TDG expression in the rectal cancer of a patient with a constitutional PMS2 deficiency

J. Jiricny, K. Wimmer, G. Amann, 2012, DNA repair.

Hereditary Diffuse Gastric Cancer

E. Macháčková, A. Křepelová, A. Puchmajerová, 2020, Constitutional Oncogenetics.

ATYPICAL TERATOID RHABDOID TUMOR (ATRT)

R. Siebert, K. Ligon, C. Roberts, 2012 .

Paraganglioma in a 13-year-old girl: a novel SDHB gene mutation in the family?

J. Lisý, A. Vicha, J. Widimský, 2010, Cancer genetics and cytogenetics.

[Hepatoblastoma, Etiology, Case Reports].

R. Kodet, M. Macek, I. Balaščák, 2016, Klinicka onkologie.

Genotype–phenotype correlation in children with autosomal dominant polycystic kidney disease

J. Štekrová, T. Seeman, J. Janda, 2009, Pediatric Nephrology.

Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring

M. Macek, A. Maver, M. Havlovicová, 2016, Clinical genetics.

Deletions of 9q21.3 including NTRK2 are associated with severe phenotype

Z. Sedlacek, M. Vlčková, M. Hancarova, 2015, American journal of medical genetics. Part A.

[Gorlin syndrome].

P. Plevova, A. Puchmajerová, V. Krutílková, 2009, Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti.

ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

James M. Hodge, E. Burnside, Y. Kamatani, 2023, Clinical cancer research : an official journal of the American Association for Cancer Research.

[Hereditary diffuse gastric cancer].

E. Macháčková, A. Puchmajerová, P. Vasovčák, 2012, Klinicka onkologie.

Mutations in STK11 gene in Czech Peutz-Jeghers patients

A. Puchmajerová, P. Vasovčák, J. Roubalík, 2009, BMC Medical Genetics.