Development of a tool for predicting HNF1B mutations in children and young adults with congenital anomalies of the kidneys and urinary tract.

Autor: Kołbuc M; Department of Pediatrics, University of Zielona Góra, Zielona Góra, Poland. M.Kolbuc@inm.uz.zgora.pl., Kołek MF; Medical University of Vienna, Vienna, Austria., Motyka R; Department of Pediatrics, University of Zielona Góra, Zielona Góra, Poland., Bieniaś B; Department of Pediatric Nephrology, Medical University of Lublin, Lublin, Poland., Habbig S; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Burgmaier K; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Faculty of Applied Healthcare Science, Deggendorf Institute of Technology, Deggendorf, Germany., Prikhodina L; Division of Inherited & Acquired Kidney Diseases, Veltishev Research Clinical Institute for Pediatrics & Children Surgery, Pirogov Russian National Research Medical University, Moscow, Russia., Papizh S; Division of Inherited & Acquired Kidney Diseases, Veltishev Research Clinical Institute for Pediatrics & Children Surgery, Pirogov Russian National Research Medical University, Moscow, Russia., Tasic V; Medical School Skopje, University Children's Hospital, 1000, Skopje, North Macedonia., Okorn C; Department of Pediatric Nephrology, University Hospital Essen, Essen, Germany., Szczepańska M; Department of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia, Katowice, Poland., Kiliś-Pstrusińska K; Department of Pediatric Nephrology, Wrocław Medical University, Wrocław, Poland., Wasilewska A; Department of Pediatric Nephrology, University Hospital, Białystok, Poland., Adamczyk P; Department of Pediatrics, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland., Tkaczyk M; Department of Pediatrics, Immunology and Nephrology, Polish Mother's Memorial Hospital Research Institute, Łódź, Poland., Pańczyk-Tomaszewska M; Department of Pediatrics and Nephrology, Medical University of Warsaw, Warsaw, Poland., Miklaszewska M; Department of Pediatric Nephrology and Hypertension, Jagiellonian University Medical College, Kraków, Poland., Pawlaczyk K; Department of Nephrology, Transplantology and Internal Medicine, Poznan University of Medical Sciences, Poznań, Poland., Bukowska-Olech E; Department of Medical Genetics, Poznan University of Medical Sciences, Poznań, Poland., Jamsheer A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznań, Poland.; Centers for Medical Genetics GENESIS, Poznań, Poland., Jankauskiene A; Pediatric Center, Institute of Clinical Medicine, Vilnius University, Vilnius, Lithuania., König J; Department of General Pediatrics, University Children's Hospital Münster, Münster, Germany., Cheong HI; Department of Pediatrics, Seoul Red Cross Hospital, Seoul, South Korea., Ahn YH; Department of Pediatrics, Seoul National University College of Medicine, Seoul, South Korea., Kaspar S; Institute of Human Genetics and Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Sikora P; Department of Pediatric Nephrology, Medical University of Lublin, Lublin, Poland., Beck BB; Institute of Human Genetics and Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Zaniew M; Department of Pediatrics, University of Zielona Góra, Zielona Góra, Poland. M.Zaniew@inm.uz.zgora.pl.

Publikováno v: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2024 Jun; Vol. 39 (6), pp. 1847-1858. Date of Electronic Publication: 2024 Jan 10.

WDR35 variants in a cranioectodermal dysplasia patient with early onset end-stage renal disease and retinal dystrophy.

Autor: Walczak-Sztulpa J; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland., Wawrocka A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland., Sikora W; Students' Scientific Society of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland., Pawlak M; Department of Ophthalmology, Poznan University of Medical Sciences, Poznan, Poland., Bukowska-Olech E; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland., Kopaczewski B; Department of Neurosurgery, Karol Jonscher Clinical Hospital, Poznan University of Medical Sciences, Poznan, Poland., Urzykowska A; Department of Nephrology, Kidney Transplantation and Hypertension, The Children's Memorial Health Institute, Warsaw, Poland., Arts HH; Department of Pathology and Laboratory Medicine, Dalhousie University, Halifax, Nova Scotia, Canada.; IWK Health Centre, Clinical Genomics Laboratory, Halifax, Nova Scotia, Canada., Gotz-Więckowska A; Department of Ophthalmology, Poznan University of Medical Sciences, Poznan, Poland., Grenda R; Department of Nephrology, Kidney Transplantation and Hypertension, The Children's Memorial Health Institute, Warsaw, Poland., Latos-Bieleńska A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland., Glazar R; Centers for Medical Genetics GENESIS, Poznan, Poland.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Oct; Vol. 188 (10), pp. 3071-3077. Date of Electronic Publication: 2022 Jul 25.

Congenital coenzyme Q5-linked pathology: causal genetic association, core phenotype, and molecular mechanism.

Autor: Dawidziuk M; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland., Podwysocka A; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland., Jurek M; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland., Obersztyn E; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland., Bekiesinska-Figatowska M; Department of Diagnostic Imaging, Institute of Mother and Child, Warsaw, Poland., Goszczanska-Ciuchta A; Clinic of Neurology of Children and Adolescents, Institute of Mother and Child, Warsaw, Poland., Bukowska-Olech E; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland., Rygiel AM; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland., Guilbride DL; Independent Researcher, Manhiça, Mozambique., Wiszniewski W; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, USA., Gawlinski P; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland. pawel.gawlinski@imid.med.pl.

Publikováno v: Journal of applied genetics [J Appl Genet] 2023 Sep; Vol. 64 (3), pp. 507-514. Date of Electronic Publication: 2023 Aug 21.

Identification of a new familial case of 3q29 deletion syndrome associated with cleft lip and palate via whole-exome sequencing.

Autor: Biedziak B; Department of Orthodontics and Craniofacial Anomalies, Poznan University of Medical Sciences, Poznan, Poland., Dąbrowska J; Department of Biochemistry and Molecular Biology, Poznan University of Medical Sciences, Poznan, Poland., Szponar-Żurowska A; Department of Orthodontics and Craniofacial Anomalies, Poznan University of Medical Sciences, Poznan, Poland., Bukowska-Olech E; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland., Jamsheer A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland., Mojs E; Department of Clinical Psychology, Poznan University of Medical Sciences, Poznan, Poland., Mulle J; Psychiatry, Robert Wood Johnson Medical School, Rutgers University, New Brunswick, New Jersey, USA., Płoski R; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland., Mostowska A; Department of Biochemistry and Molecular Biology, Poznan University of Medical Sciences, Poznan, Poland.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Jan; Vol. 191 (1), pp. 205-219. Date of Electronic Publication: 2022 Nov 01.

The pZRS non-coding regulatory mutation resulting in triphalangeal thumb-polysyndactyly syndrome changes the pattern of local interactions.

Autor: Potuijt JWP; Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Sowinska-Seidler A; Department of Medical Genetics, Poznan University of Medical Sciences, Rokietnicka 8 Street, 60-806, Poznan, Poland. seidler@ump.edu.pl., Bukowska-Olech E; Department of Medical Genetics, Poznan University of Medical Sciences, Rokietnicka 8 Street, 60-806, Poznan, Poland., Nguyen P; Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Jankowski A; Faculty of Mathematics, Informatics and Mechanics, University of Warsaw, Warsaw, Poland., Magielsen F; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Matuszewska K; Department of Medical Genetics, Poznan University of Medical Sciences, Rokietnicka 8 Street, 60-806, Poznan, Poland.; Centers for Medical Genetics GENESIS, Poznan, Poland., van Nieuwenhoven CA; Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Galjaard RH; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., de Klein A; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Jamsheer A; Department of Medical Genetics, Poznan University of Medical Sciences, Rokietnicka 8 Street, 60-806, Poznan, Poland. jamsheer@wp.pl.; Centers for Medical Genetics GENESIS, Poznan, Poland. jamsheer@wp.pl.

Publikováno v: Molecular genetics and genomics : MGG [Mol Genet Genomics] 2022 Sep; Vol. 297 (5), pp. 1343-1352. Date of Electronic Publication: 2022 Jul 11.