Large neutral amino acid levels tune perinatal neuronal excitability and survival

Authors: Knaus, Lisa S., Basilico, Bernadette, Malzl, Daniel, Gerykova Bujalkova, Maria, Smogavec, Mateja, Schwarz, Lena A., Gorkiewicz, Sarah, Amberg, Nicole, Pauler, Florian M., Knittl-Frank, Christian, Tassinari, Marianna, Maulide, Nuno, Rülicke, Thomas, Menche, Jörg, Hippenmeyer, Simon, Novarino, Gaia

Source: In Cell 27 April 2023 186(9):1950-1967

Distal Arthrogryposis with Impaired Proprioception and Touch: Description of an Early Phenotype in a Boy with Compound Heterozygosity of PIEZO2 Mutations and Review of the Literature

Authors: Behunova, Jana, Gerykova Bujalkova, Maria, Gras, Gabriel, Taylor, Thomas, Ihm, Ulrike, Kircher, Susanne, Rehder, Helga, Laccone, Franco

Source: Molecular syndromology. 9(6):287-294

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100084713488.0x000001&indx=1&recIds=ETOCvdc_100084713488.0x000001

Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case.

Authors: Pfeifer, Mateja, Rehder, Helga, Gerykova Bujalkova, Maria, Bartsch, Christine, Fritz, Barbara, Knopp, Cordula, Beckers, Björn, Dohle, Frank, Meyer-Wittkopf, Matthias, Axt-Fliedner, Roland, Beribisky, Alexander V., Hofer, Manuel, Laccone, Franco, Schoner, Katharina

Source: Orphanet Journal of Rare Diseases; 3/12/2024, Vol. 19 Issue 1, p1-11, 11p

Subject Terms: HUMAN abnormalities, SIRENOMELIA, AUTOPSY, RESPIRATORY insufficiency, ETIOLOGY of diseases

Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype–phenotype correlations

Authors: Smogavec, Mateja, Gerykova Bujalkova, Maria, Lehner, Reinhard, Neesen, Jürgen, Behunova, Jana, Yerlikaya-Schatten, Gülen, Reischer, Theresa, Altmann, Reinhard, Weis, Denisa, Duba, Hans-Christoph, Laccone, Franco

Source: European Journal of Human Genetics: EJHG; April 2022, Vol. 30 Issue: 4 p428-438, 11p

Distal Arthrogryposis with Impaired Proprioception and Touch: Description of an Early Phenotype in a Boy with Compound Heterozygosity of PIEZO2Mutations and Review of the Literature

Authors: Behunova, Jana, Gerykova Bujalkova, Maria, Gras, Gabriel, Taylor, Thomas, Ihm, Ulrike, Kircher, Susanne, Rehder, Helga, Laccone, Franco

Source: Molecular Syndromology; January 2019, Vol. 9 Issue: 6 p287-294, 8p

Utilization of Benchtop Next Generation Sequencing Platforms Ion Torrent PGM and MiSeq in Noninvasive Prenatal Testing for Chromosome 21 Trisomy and Testing of Impact of In Silico and Physical Size Selection on Its Analytical Performance.

Authors: Minarik, Gabriel, Repiska, Gabriela, Hyblova, Michaela, Nagyova, Emilia, Soltys, Katarina, Budis, Jaroslav, Duris, Frantisek, Sysak, Rastislav, Gerykova Bujalkova, Maria, Vlkova-Izrael, Barbora, Biro, Orsolya, Nagy, Balint, Szemes, Tomas

Source: PLoS ONE; 12/15/2015, Vol. 10 Issue 12, p1-12, 12p

Subject Terms: TRISOMY, PRENATAL care, DNA analysis, COST effectiveness, GENOMES

Identification of a novel mutations BRCA1*c.80 + 3del4 and BRCA2*c.6589delA in Slovak HBOC families.

Authors: Konecny, Michal, Vizvaryova, Miriam, Zavodna, Katarina, Behulova, Regina, Gerykova Bujalkova, Maria, Krivulcik, Tomas, Cisarik, Frantisek, Kausitz, Juraj, Weismanova, Eva

Source: Breast Cancer Research & Treatment; Feb2010, Vol. 119 Issue 1, p233-237, 5p