Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.

Autor: Dawidziuk M; Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland., Gambin T; Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland., Bukowska-Olech E; Department of Medical Genetics, Poznan University of Medical Sciences, 60-806 Poznan, Poland., Antczak-Marach D; Clinic of Paediatric Neurology, Institute of Mother and Child, 01-211 Warsaw, Poland., Badura-Stronka M; Department of Medical Genetics, Poznan University of Medical Sciences, 60-806 Poznan, Poland., Buda P; Department of Pediatrics, Nutrition, and Metabolic Diseases, The Children's Memorial Health Institute, 04-730 Warsaw, Poland., Budzynska E; Department of Clinical Genetics, Central Clinical Hospital, Medical University of Lodz, 92-213 Lodz, Poland., Castaneda J; Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland., Chilarska T; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, 93-338 Lodz, Poland., Czyzyk E; Clinical Department of Child Neurology, Clinical Central Hospital No. 2 in Rzeszow, 35-301 Rzeszow, Poland., Eckersdorf-Mastalerz A; Department of Clinical Genetics, Central Clinical Hospital, Medical University of Lodz, 92-213 Lodz, Poland., Fijak-Moskal J; Department of Medical Genetics, Jagiellonian University Medical College, 30-663 Krakow, Poland., Gieruszczak-Bialek D; Department of Paediatrics, Medical University of Warsaw, 01-184 Warsaw, Poland., Glodek-Brzozowska E; Clinical Department of Child Neurology, Clinical Central Hospital No. 2 in Rzeszow, 35-301 Rzeszow, Poland., Goszczanska-Ciuchta A; Clinic of Paediatric Neurology, Institute of Mother and Child, 01-211 Warsaw, Poland., Grzeszykowska-Podymniak M; Department of Nephrology, Kidney Transplantation and Hypertension, The Children's Memorial Health Institute, 04-730 Warsaw, Poland., Gurda B; Department of Developmental Neurology, Poznan University of Medical Sciences, 60-355 Poznan, Poland., Jakubiuk-Tomaszuk A; Department of Pediatric Neurology and Rehabilitation, Medical University of Bialystok, 15-274 Bialystok, Poland., Jamroz E; Department of Pediatric and Neurology of Developmental Age, Saint John Paul II Upper Silesian Child Health Centre, The Independent Public Clinical Hospital No. 6 of the Medical University of Silesia, 40-055 Katowice, Poland., Janeczko M; Department of Genetics, Institute of Pediatrics, Jagiellonian University Medical College, 30-663 Krakow, Poland., Jedlińska-Pijanowska D; Department of Neonatology and Neonatal Intensive Care, The Children's Memorial Health Institute, 04-730 Warsaw, Poland., Jurek M; Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland., Karolewska D; Specialist Mother and Child Hospital Complex in Poznan, 61-825 Poznan, Poland., Kazmierczak A; Independent Public Healthcare Center, Department of Pediatric Neurology, Multidisciplinary Hospital, 67-100 Nowa Sol, Poland., Kleist T; Department of Pediatric Neurology Neurological Outpatient Clinic for Children, Municipal Hospital Complex, 41-500 Chorzow, Poland., Kochanowska I; Individual Medical Practice in Pediatric Neurology, 70-592 Szczecin, Poland., Krajewska-Walasek M; Department of Medical Genetics, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, 01-138 Warsaw, Poland., Kufel K; Department of Neonatal and Intensive Care, Medical University of Warsaw, 01-184 Warsaw, Poland., Kutkowska-Kaźmierczak A; Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland., Lipiec A; Clinic of Paediatric Neurology, Institute of Mother and Child, 01-211 Warsaw, Poland., Maksym-Gasiorek D; Department of Neonatology, Neonatal Pathology and Intensive Care, The Children's Memorial Health Institute, 04-730 Warsaw, Poland., Materna-Kiryluk A; Department of Medical Genetics, Poznan University of Medical Sciences, 60-806 Poznan, Poland.; Polish Registry of Congenital Malformations, Department of Medical Genetics, Poznan University of Medical Sciences, 60-806 Poznan, Poland., Mazurkiewicz H; Clinic of Paediatric Neurology, Institute of Mother and Child, 01-211 Warsaw, Poland., Milewski M; Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland., Pavina-Guglas T; Department of Neonatology, Neonatal Pathology and Intensive Care, The Children's Memorial Health Institute, 04-730 Warsaw, Poland., Pietrzyk A; Department of Genetics and Pathomorphology, Faculty of Medicine and Health Sciences, University of Zielona Gora, 65-046 Zielona Gora, Poland., Posmyk R; Department of Clinical Genetics, Medical University of Bialystok, 15-089 Bialystok, Poland., Pyrkosz A; Department of Medical Genetics, University of Rzeszow, 35-959 Rzeszow, Poland., Rudzka-Dybala M; Clinic of Paediatric Neurology, Institute of Mother and Child, 01-211 Warsaw, Poland., Slezak R; Department of Genetics, Wroclaw Medical University, 50-368 Wroclaw, Poland., Wisniewska M; Department of Medical Genetics, Poznan University of Medical Sciences, 60-806 Poznan, Poland., Zalewska-Miszkurka Z; Clinic of Paediatric Neurology, Institute of Mother and Child, 01-211 Warsaw, Poland., Szczepanik E; Clinic of Paediatric Neurology, Institute of Mother and Child, 01-211 Warsaw, Poland., Obersztyn E; Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland., Bekiesinska-Figatowska M; Department of Diagnostic Imaging, Institute of Mother and Child, 01-211 Warsaw, Poland., Gawlinski P; Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland., Wiszniewski W; Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland.

Publikováno v: Genes [Genes (Basel)] 2021 Dec 18; Vol. 12 (12). Date of Electronic Publication: 2021 Dec 18.

Comprehensive genomic analysis of patients with disorders of cerebral cortical development.

Autor: Wiszniewski W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. wiszniew@ohsu.edu.; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland. wiszniew@ohsu.edu.; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA. wiszniew@ohsu.edu., Gawlinski P; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland., Gambin T; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.; Institute of Computer Science, Warsaw University of Technology, Warsaw, Poland., Bekiesinska-Figatowska M; Department of Diagnostic Imaging, Institute of Mother and Child, Warsaw, Poland., Obersztyn E; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland., Antczak-Marach D; Clinic of Neurology of Children and Adolescents, Institute of Mother and Child, Warsaw, Poland., Akdemir ZHC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Harel T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Karaca E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Jurek M; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland., Sobecka K; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland., Nowakowska B; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland., Kruk M; Clinic of Neurology of Children and Adolescents, Institute of Mother and Child, Warsaw, Poland., Terczynska I; Clinic of Neurology of Children and Adolescents, Institute of Mother and Child, Warsaw, Poland., Goszczanska-Ciuchta A; Clinic of Neurology of Children and Adolescents, Institute of Mother and Child, Warsaw, Poland., Rudzka-Dybala M; Clinic of Neurology of Children and Adolescents, Institute of Mother and Child, Warsaw, Poland., Jamroz E; School of Medicine in Katowice, Department of Pediatrics and Developmental Age Neurology, Medical University of Silesia, Katowice, Poland., Pyrkosz A; Department of Medical Genetics, University of Rzeszow, Rzeszow, Poland., Jakubiuk-Tomaszuk A; Department of Pediatric Neurology and Rehabilitation, Medical University of Bialystok, Bialystok, Poland., Iwanowski P; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland., Gieruszczak-Bialek D; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.; Department of Pediatrics, Medical University of Warsaw, Warsaw, Poland., Piotrowicz M; Department of Genetics, Polish Mother's Memorial Hospital - Research Institute, Lodz, Poland., Sasiadek M; Department of Genetics, Wroclaw Medical University, Wroclaw, Poland., Kochanowska I; Individual Medical Practice in Pediatric Neurology, Szczecin, Poland., Gurda B; Department of Developmental Neurology, Poznan University of Medical Sciences, Poznan, Poland., Steinborn B; Department of Developmental Neurology, Poznan University of Medical Sciences, Poznan, Poland., Dawidziuk M; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland., Castaneda J; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland., Wlasienko P; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland., Bezniakow N; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland., Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Hoffman-Zacharska D; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland., Bal J; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland., Szczepanik E; Clinic of Neurology of Children and Adolescents, Institute of Mother and Child, Warsaw, Poland., Boerwinkle E; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Human Genetics Center and Institute of Molecular Medicine, University of Texas-Houston Health Science Center, Houston, TX, USA., Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2018 Aug; Vol. 26 (8), pp. 1121-1131. Date of Electronic Publication: 2018 Apr 30.

The involvement of NMDA and AMPA receptors in the mechanism of antidepressant-like action of zinc in the forced swim test.

Autor: Szewczyk, B., Poleszak, E., Sowa-Kućma, M., Wróbel, A., Slotwiński, S., Listos, J., Wlaź, P., Cichy, A., Siwek, A., Dybala, M., Gołembiowska, K., Pilc, A., Nowak, Gabriel

Publikováno v: Amino Acids; Jun2010, Vol. 39 Issue 1, p205-217, 13p, 2 Charts, 10 Graphs

C231: Transperitoneal laparoscopic radical nephrectomy for renal cell carcinoma during pregnancy

Autor: Lisowska, J., Gronostaj, K., Golabek, T., Czech, A.K., Gawlas, W., Dybala, M., Wiatr, T., Hessel, T., Przydacz, M., Chlosta, P., Prof.

Publikováno v: In European Urology Supplements November 2014 13(6):e1394-e1394

Effect of heat stress on the hypothalamic expression profile of water homeostasis-associated genes in low- and high-water efficient chicken lines.

Autor: Aloui, Loujain^1,2, Greene, Elizabeth S.¹, Tabler, Travis¹, Lassiter, Kentu¹, Thompson, Kevin³, Bottje, Walter G.¹, Orlowski, Sara¹, Dridi, Sami¹ dridi@uark.edu

Publikováno v: Physiological Reports. Mar2024, Vol. 12 Issue 5, p1-25. 25p.