NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study.

Autor: Sałacińska K; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland., Pinkier I; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland., Rutkowska L; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland., Chlebna-Sokół D; Department of Bone Metabolic Diseases, University Centre of Paediatric, Medical University of Lodz, Lodz, Poland., Jakubowska-Pietkiewicz E; Department of Pediatrics, Newborn Pathology and Bone Metabolic Diseases, Medical University of Lodz, Lodz, Poland., Michałus I; Department of Endocrinology and Metabolic Diseases, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland., Kępczyński Ł; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland., Salachna D; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland., Wieczorek-Cichecka N; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland., Piotrowicz M; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland., Chilarska T; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland., Jamsheer A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland., Matusik P; Department of Pediatrics, Pediatric Obesity and Metabolic Bone Diseases, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland., Wilk M; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Disorders and Cardiology of Developmental Age, Pomeranian Medical University, Szczecin, Poland., Petriczko E; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Disorders and Cardiology of Developmental Age, Pomeranian Medical University, Szczecin, Poland., Giżewska M; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Disorders and Cardiology of Developmental Age, Pomeranian Medical University, Szczecin, Poland., Stecewicz I; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Disorders and Cardiology of Developmental Age, Pomeranian Medical University, Szczecin, Poland., Walczak M; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Disorders and Cardiology of Developmental Age, Pomeranian Medical University, Szczecin, Poland., Rybak-Krzyszkowska M; Department of Obstetrics and Perinatology, University Hospital, Kraków, Poland., Lewiński A; Department of Endocrinology and Metabolic Diseases, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland., Gach A; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.

Publikováno v: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2023 Sep 22; Vol. 14, pp. 1149982. Date of Electronic Publication: 2023 Sep 22 (Print Publication: 2023).

The first glycine-to-tryptophan substitution in the COL1A1 gene identified in a patient with progressively-deforming Osteogenesis imperfecta.

Autor: Sałacińska K; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland., Michałus I; Department of Endocrinology and Metabolic Diseases, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland., Pinkier I; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland., Rutkowska L; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland., Chlebna-Sokół D; Department of Bone Metabolic Diseases, University Centre of Paediatric, Medical University of Lodz, Lodz, Poland., Jakubowska-Pietkiewicz E; Department of Paediatric Propedeutics and Bone Metabolic Diseases, Medical University of Lodz, Lodz, Poland., Kępczyński Ł; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland., Salachna D; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland., Gach A; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.

Publikováno v: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 Aug; Vol. 10 (8), pp. e1996. Date of Electronic Publication: 2022 Jun 24.

Familial Partial Lipodystrophy-Literature Review and Report of a Novel Variant in PPARG Expanding the Spectrum of Disease-Causing Alterations in FPLD3.

Autor: Rutkowska L; Department of Genetics, Polish Mother's Memorial Hospital-Research Institute, 93-338 Lodz, Poland., Salachna D; Department of Genetics, Polish Mother's Memorial Hospital-Research Institute, 93-338 Lodz, Poland., Lewandowski K; Department of Endocrinology and Metabolic Diseases, Medical University of Lodz, 90-419 Lodz, Poland.; Department of Endocrinology and Metabolic Diseases, Polish Mother's Memorial Hospital-Research Institute, 93-338 Lodz, Poland., Lewiński A; Department of Endocrinology and Metabolic Diseases, Medical University of Lodz, 90-419 Lodz, Poland.; Department of Endocrinology and Metabolic Diseases, Polish Mother's Memorial Hospital-Research Institute, 93-338 Lodz, Poland., Gach A; Department of Genetics, Polish Mother's Memorial Hospital-Research Institute, 93-338 Lodz, Poland.

Publikováno v: Diagnostics (Basel, Switzerland) [Diagnostics (Basel)] 2022 Apr 30; Vol. 12 (5). Date of Electronic Publication: 2022 Apr 30.

Genomic and Bioinformatics Analysis of Familial Partial Lipodystrophy Type 3 Identified in a Patient with Novel PPARγ Mutation and Robust Response to Pioglitazone.

Autor: Hummadi, Abdulrahman¹ (AUTHOR), Yafei, Saeed^1,2 (AUTHOR) saeedyafei@taiz.edu.ye, Mutawwam, Dhayf Alrahman³ (AUTHOR), Abutaleb, Raed¹ (AUTHOR), Solan, Yahia¹ (AUTHOR), Khawaji, Abdullah¹ (AUTHOR), Alhagawy, Ali Jaber¹ (AUTHOR), Algohani, Turki¹ (AUTHOR), Khardali, Mamdouh⁴ (AUTHOR), Hakami, Mohammed¹ (AUTHOR), Daghriri, Abdulrraheem⁴ (AUTHOR), Hezam, Wegdan⁵ (AUTHOR), Kariri, Nourah¹ (AUTHOR)

Publikováno v: International Journal of Molecular Sciences. Nov2024, Vol. 25 Issue 22, p12060. 13p.

New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism.

Autor: Gach A; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland., Pinkier I; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland., Wysocka U; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland., Sałacińska K; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland., Salachna D; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland., Szarras-Czapnik M; Department of Endocrinology and Diabetology, Children's Memorial Health Institute, Warsaw, Poland., Pietrzyk A; Department of Genetics and Pathomorphology, Faculty of Medicine and Health Sciences, University of Zielona Gora, Poland., Sakowicz A; Department of Medical Biotechnology, Medical University of Lodz, Lodz, Poland., Nykel A; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland., Rutkowska L; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland., Rybak-Krzyszkowska M; Department of Obstetrics and Perinatology, University Hospital in Krakow, Krakow, Poland., Socha M; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland., Jamsheer A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland., Jakubowski L; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.

Publikováno v: Archives of medical science : AMS [Arch Med Sci] 2020 Sep 18; Vol. 18 (2), pp. 353-364. Date of Electronic Publication: 2020 Sep 18 (Print Publication: 2022).