The hybrid allele 1 of carboxyl-ester lipase (CEL-HYB1) in Polish pediatric patients with chronic pancreatitis.

Autor: Oracz G; Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland., Kujko AA; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland., Fjeld K; Department of Clinical Science, University of Bergen, Bergen, Norway; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Wertheim-Tysarowska K; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland., Adamus-Białek W; Department of Surgery and Surgical Nursing with Research Laboratory and Genetics Laboratory, Faculty of Medicine and Health Sciences, Jan Kochanowski University, Kielce, Poland., Steine SJ; Gade Laboratory for Pathology, Department of Clinical Medicine, University of Bergen, Bergen, Norway., Koziel D; Department of Surgery and Surgical Nursing with Research Laboratory and Genetics Laboratory, Faculty of Medicine and Health Sciences, Jan Kochanowski University, Kielce, Poland., Gluszek S; Department of Surgery and Surgical Nursing with Research Laboratory and Genetics Laboratory, Faculty of Medicine and Health Sciences, Jan Kochanowski University, Kielce, Poland., Molven A; Gade Laboratory for Pathology, Department of Clinical Medicine, University of Bergen, Bergen, Norway; Department of Pathology, Haukeland University Hospital, Bergen, Norway., Rygiel AM; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland. Electronic address: agnieszka.rygiel@imid.med.pl.

Publikováno v: Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] [Pancreatology] 2019 Jun; Vol. 19 (4), pp. 531-534. Date of Electronic Publication: 2019 Apr 26.

Hearing impairment caused by mutations in two different genes responsible for nonsyndromic and syndromic hearing loss within a single family.

Autor: Niepokój K; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a Street, 01-211, Warsaw, Poland. katarzyna.niepokoj@imid.med.pl., Rygiel AM; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a Street, 01-211, Warsaw, Poland., Jurczak P; Center of Diagnosis, Treatment and Rehabilitation of Hearing, Voice and Speech Disorders, John Paul II Podkarpacie Province Hospital, Korczyńska Street, 38-400, Krosno, Poland., Kujko AA; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a Street, 01-211, Warsaw, Poland., Śniegórska D; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a Street, 01-211, Warsaw, Poland., Sawicka J; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a Street, 01-211, Warsaw, Poland., Grabarczyk A; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a Street, 01-211, Warsaw, Poland., Bal J; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a Street, 01-211, Warsaw, Poland., Wertheim-Tysarowska K; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a Street, 01-211, Warsaw, Poland.

Publikováno v: Journal of applied genetics [J Appl Genet] 2018 Feb; Vol. 59 (1), pp. 67-72. Date of Electronic Publication: 2017 Nov 18.

A novel p.Ser282Pro CPA1 variant is associated with autosomal dominant hereditary pancreatitis.

Autor: Kujko AA; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland., Berki DM; Department of Molecular and Cell Biology, Center for Exocrine Disorders, Boston University Henry M. Goldman School of Dental Medicine, Boston, Massachusetts, USA., Oracz G; Department of Gastroenterology, Hepatology and Feeding Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland., Wejnarska K; Department of Gastroenterology, Hepatology and Feeding Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland., Antoniuk J; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland., Wertheim-Tysarowska K; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland., Kołodziejczyk E; Department of Gastroenterology, Hepatology and Feeding Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland., Bal J; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland., Sahin-Tóth M; Department of Molecular and Cell Biology, Center for Exocrine Disorders, Boston University Henry M. Goldman School of Dental Medicine, Boston, Massachusetts, USA., Rygiel AM; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.

Publikováno v: Gut [Gut] 2017 Sep; Vol. 66 (9), pp. 1728-1730. Date of Electronic Publication: 2017 Mar 03.