Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.

Autor: Wertheim-Tysarowska K; Department of Medical Genetics, Institute of Mother and Child, Warsaw, 01-211, Poland. katarzyna.wertheim@imid.med.pl., Osipowicz K; Department of Dermatology, Immunodermatology and Venereology, Medical University of Warsaw, Warsaw, 02-008, Poland., Woźniak K; Department of Dermatology, Immunodermatology and Venereology, Medical University of Warsaw, Warsaw, 02-008, Poland.; National Medical Institute of the Ministry of the Interior and Administration, Warsaw, Poland., Sawicka J; Department of Medical Genetics, Institute of Mother and Child, Warsaw, 01-211, Poland., Mika A; Department of Pharmaceutical Biochemistry, Medical University of Gdansk, Gdansk, 80-211, Poland., Kutkowska-Kaźmierczak A; Department of Medical Genetics, Institute of Mother and Child, Warsaw, 01-211, Poland., Niepokój K; Department of Medical Genetics, Institute of Mother and Child, Warsaw, 01-211, Poland., Sobczyńska-Tomaszewska A; Medgen - MedGen Diagnostic Laboratory, MedGen Medical Center, ul. Wiktorii Wiedeńskiej 9a, Warsaw, 02- 954, Poland., Wawrzycki B; Department of Dermatology, Venereology, and Paediatric Dermatology, Medical University of Lublin, Staszica 11, Lublin, 20-080, Poland., Pietrzak A; Department of Dermatology, Venereology, and Paediatric Dermatology, Medical University of Lublin, Staszica 11, Lublin, 20-080, Poland., Śmigiel R; Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases, Wroclaw Medical University, Wroclaw, Poland., Wojtaś B; Laboratory of Sequencing, Nencki Institute of Experimental Biology, Wroclaw, Poland., Gielniewski B; Laboratory of Molecular Neurobiology, Nencki Institute of Experimental Biology, Wroclaw, Poland., Szabelska-Beresewicz A; Department of Mathematical and Statistical Methods, Poznań University of Life Sciences, Poznań, 60-637, Poland., Zyprych-Walczak J; Department of Mathematical and Statistical Methods, Poznań University of Life Sciences, Poznań, 60-637, Poland., Rygiel AM; Department of Medical Genetics, Institute of Mother and Child, Warsaw, 01-211, Poland., Domaszewicz A; Department of Medical Genetics, Institute of Mother and Child, Warsaw, 01-211, Poland., Braun-Walicka N; Department of Medical Genetics, Institute of Mother and Child, Warsaw, 01-211, Poland., Grabarczyk A; Department of Medical Genetics, Institute of Mother and Child, Warsaw, 01-211, Poland., Rzońca-Niewczas S; Department of Medical Genetics, Institute of Mother and Child, Warsaw, 01-211, Poland., Lidia R; Międzyleski Specialistic Hospital In Warsaw, Bursztynowa 2, Warsaw, 04-749, Poland., Dawidziuk M; Department of Medical Genetics, Institute of Mother and Child, Warsaw, 01-211, Poland., Domański D; Mass Spectrometry Laboratory, Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Warsaw, Poland., Gambin T; Department of Medical Genetics, Institute of Mother and Child, Warsaw, 01-211, Poland., Jackiewicz M; Department of Medical Genetics, Institute of Mother and Child, Warsaw, 01-211, Poland., Duk K; Department of Medical Genetics, Institute of Mother and Child, Warsaw, 01-211, Poland., Dorożko B; Department of Medical Genetics, Institute of Mother and Child, Warsaw, 01-211, Poland., Szczygielski O; Clinic of Surgery of Children and Adolescents, Institute of Mother and Child, Warsaw, Poland., Krześniak N; Department of Plastic and Reconstructive Surgery, Centre of Postgraduate Medical Education, Prof. W. Orlowski Memorial Hospital, Warsaw, Poland., Noszczyk BH; Department of Plastic and Reconstructive Surgery, Centre of Postgraduate Medical Education, Prof. W. Orlowski Memorial Hospital, Warsaw, Poland., Obersztyn E; Department of Medical Genetics, Institute of Mother and Child, Warsaw, 01-211, Poland., Wierzba J; Department of Internal and Pediatric Nursing, Institute of Nursing and Midwifery, Medical University of Gdańsk, Gdańsk, Poland., Barczyk A; Department of Medical Genetics, Institute of Mother and Child, Warsaw, 01-211, Poland., Castaneda J; Department of Medical Genetics, Institute of Mother and Child, Warsaw, 01-211, Poland., Eckersdorf-Mastalerz A; Medical Center Fundacja PoMoc, ul. Dąbrowskiego 87, Łódź, 93-271, Poland., Jakubiuk-Tomaszuk A; Medical Genetics Unit, Mastermed Medical Center, Bialystok, Poland.; Department of Pediatric Neurology, Medical University of Bialystok, Bialystok, Poland., Własienko P; Department of Medical Genetics, Institute of Mother and Child, Warsaw, 01-211, Poland., Jaszczuk I; Department of Cancer Genetics with Cytogenetic Laboratory, Medical University of Lublin, Lublin, Poland., Jezela-Stanek A; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, 26 Plocka str, Warsaw, 01-138, Poland., Klapecki J; Department of Medical Genetics, Institute of Mother and Child, Warsaw, 01-211, Poland., van Geel M; Department of Dermatology, Maastricht University Medical Centre +, Maastricht, The Netherlands., Kowalewski C; Department of Dermatology, Immunodermatology and Venereology, Medical University of Warsaw, Warsaw, 02-008, Poland.; National Medical Institute of the Ministry of the Interior and Administration, Warsaw, Poland., Bal J; Department of Medical Genetics, Institute of Mother and Child, Warsaw, 01-211, Poland., Gostyński A; Department of Dermatology, Maastricht University Medical Centre +, Maastricht, The Netherlands.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Nov 05; Vol. 19 (1), pp. 413. Date of Electronic Publication: 2024 Nov 05.

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One-step primary cleft repair — a novel approach to the surgical treatment of patients suffering from bilateral cleft lip and palate

Autor: Damek, I., Brudnicki, A., Surowiec, Z., Szczygielski, O., Piwowar, W., Offert, B., Wieprzowski, L., Samborski, K., Sawicka, E.

Publikováno v: In International Journal of Oral & Maxillofacial Surgery May 2019 48 Supplement 1:188-188

Neurocutaneous Melanosis with Meningeal Melanocytosis: A Rare Case of Intracranial Hypertension and Cutaneous Manifestations.

Autor: Chen, Hsien-Chung^1,2,3 (AUTHOR) d620111001@tmu.edu.tw, Hsu, Tsung-I^1,4,5,6,7 (AUTHOR) dabiemhsu@tmu.edu.tw, Chao, Tsu-Yi⁸ (AUTHOR) 10575@s.tmu.edu.tw, Yang, Shun-Tai^2,3,9 (AUTHOR) 08512@s.tmu.edu.tw

Publikováno v: Life (2075-1729). Jan2024, Vol. 14 Issue 1, p139. 9p.

Giant congenital melanocytic nevi: selected aspects of diagnostics and treatment.

Autor: Sawicka E; Clinic of Surgery of Children and Adolescents, Institute of Mother and Child, Warsaw, Poland., Szczygielski O; Clinic of Surgery of Children and Adolescents, Institute of Mother and Child, Warsaw, Poland., Żak K; Clinic of Surgery of Children and Adolescents, Institute of Mother and Child, Warsaw, Poland., Pęczkowski P; Department of Diagnostic Imaging, Institute of Mother and Child, Warsaw, Poland., Michalak E; Department of Pathomorphology, Institute of Mother and Child, Warsaw, Poland., Bekiesińska-Figatowska M; Department of Diagnostic Imaging, Institute of Mother and Child, Warsaw, Poland.

Publikováno v: Medical science monitor : international medical journal of experimental and clinical research [Med Sci Monit] 2015 Jan 11; Vol. 21, pp. 123-32. Date of Electronic Publication: 2015 Jan 11.