Comparative Genomic Hybridization to Microarrays in Fetuses with High-Risk Prenatal Indications: Polish Experience with 7400 Pregnancies.

Autor: Kowalczyk K; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland., Bartnik-Głaska M; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland., Smyk M; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland., Plaskota I; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland., Bernaciak J; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland., Kędzior M; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland., Wiśniowiecka-Kowalnik B; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland., Deperas M; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland., Domaradzka J; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland., Łuszczek A; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland., Dutkiewicz D; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland., Kozar A; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland., Grad D; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland., Niemiec M; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland., Ziemkiewicz K; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland., Magdziak R; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland., Braun-Walicka N; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland., Barczyk A; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland., Geremek M; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland., Castañeda J; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland., Kutkowska-Kaźmierczak A; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland., Własienko P; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland., Jakubów-Durska K; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland., Dębska M; 1st Department of Obstetrics and Gynecology, Medical University of Warsaw, pl. S. Starynkiewicza 1/3, 02-015 Warsaw, Poland., Kucińska-Chahwan A; Department of Gynecology Oncology and Obstetrics, Medical Centre of Postgraduate Education (CMKP), Czerniakowska 231, 00-416 Warsaw, Poland., Kozłowski S; Clinic of Obstetrics and Gynaecology, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland., Mikulska B; Clinic of Obstetrics and Gynaecology, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland., Issat T; Clinic of Obstetrics and Gynaecology, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland., Roszkowski T; Department of Gynecology Oncology and Obstetrics, Medical Centre of Postgraduate Education (CMKP), Czerniakowska 231, 00-416 Warsaw, Poland., Nawara-Baran A; Specialist Gabinets Volumed, Zdrowa 1/3, 31-216 Krakow, Poland., Runge A; Genetic Department, Ludwik Rydygier Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University of Torun, 85-067 Bydgoszcz, Poland., Jakubiuk-Tomaszuk A; Medical Genetics Unit, Mastermed Medical Center, 15-302 Bialystok, Poland., Kruczek A; Genetic Counselling Unit Kostyk and Kruczek, Henryka Wieniawskiego 64, 31-436 Krakow, Poland., Kostyk E; Genetic Counselling Unit Kostyk and Kruczek, Henryka Wieniawskiego 64, 31-436 Krakow, Poland., Pietras G; Department of Obstetrics and Perinatology, Medical University of Lublin, Jaczewskiego 8, 20-090 Lublin, Poland., Limon J; Prenatal Unit, Medical University of Gdansk, Marii Sklodowskiej-Curie 3a, 80-210 Gdansk, Poland., Zwoliński J; Department of Obstetrics, Hospital of St. Families in Warsaw, Madalinskiego 25, 02-544 Warsaw, Poland., Ochman K; Clinics and Medical Laboratories INVICTA, Genetics Clinic, Rajska 10, 80-850 Gdansk, Poland., Szajner T; Specialist Hospital Pro-Familia, Witolda 6B, 35-302 Rzeszow, Poland., Węgrzyn P; Department of Obstetrics, Perinatology and Gynaecology, Faculty of Health Sciences, Medical University of Warsaw, Zwirki i Wigury 63a, 02-091 Warsaw, Poland., Wielgoś M; 1st Department of Obstetrics and Gynecology, Medical University of Warsaw, pl. S. Starynkiewicza 1/3, 02-015 Warsaw, Poland., Sąsiadek M; Department of Genetics, Wroclaw Medical University, K. Marcinkowskiego 1, 50-368 Wroclaw, Poland., Obersztyn E; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland., Nowakowska BA; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.

Publikováno v: Genes [Genes (Basel)] 2022 Apr 14; Vol. 13 (4). Date of Electronic Publication: 2022 Apr 14.

Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity (vol 140A, pg 1726, 2006)

Autor: Robertson, S, Jenkins, Z, Morgan, T, Ades, L, Aftimos, S, Boute, O, Fiskerstrand, T, Garcia-Minaur, S, Grix, A, Green, A, Kalouistian, V, Lewkonia, R, McInnes, B, Haelst, v, Macini, G, Illes, T, Mortier, G, Newbury-Ecob, R, Nicholson, L, Scott, C, Ochman, K, Brozek, I, Shears, D, Superti-Furga, A, Suri, M

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1064::af9531885340ae6e654e38eb57968df5
https://ora.ox.ac.uk/objects/uuid:9e3b5f8a-68fe-4a08-a8af-0bec4451a417

Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity (vol 140A, pg 1726, 2006)

Autor: Robertson, SP, Jenkins, ZA, Morgan, T, Ades, L, Aftimos, S, Boute, O, Fiskerstrand, T, Garcia-Minaur, S, Grix, A, Green, A, Kalouistian, VD, Lewkonia, R, McInnes, B, van Haelst, MM, Macini, G, Illes, T, Mortier, G, Newbury-Ecob, R, Nicholson, L, Scott, CI, Ochman, K, Brozek, I, Shears, DJ, Superti-Furga, A, Suri, M, Whiteford, M, Wilkie, AOM, Krakow, D

Publikováno v: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. (24)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1064::37d626e6be1fe6c0b280a8657e74a4a6
http://ora.ox.ac.uk/objects/uuid:9e3b5f8a-68fe-4a08-a8af-0bec4451a417

Low-symptomatic skeletal muscle disease in patients with a cardiac disease - Diagnostic approach in skeletal muscle laminopathies.

Autor: Madej-Pilarczyk A; Neuromuscular Unit, Mossakowski Medical Research Center, Polish Academy of Sciences, Warsaw, Poland. Electronic address: agamadpil@gmail.com., Marchel M; 1st Department of Cardiology, Medical University of Warsaw, Banacha 1a, Warsaw, Poland., Ochman K; Clinics and Medical Laboratories INVICTA, Genetics Clinic, Gdansk, Poland., Cegielska J; Department of Neurology, Medical University of Warsaw, Bielanski Hospital, Warsaw, Poland., Steckiewicz R; 1st Department of Cardiology, Medical University of Warsaw, Banacha 1a, Warsaw, Poland.

Publikováno v: Neurologia i neurochirurgia polska [Neurol Neurochir Pol] 2018 Mar; Vol. 52 (2), pp. 174-180. Date of Electronic Publication: 2017 Sep 25.

Lung cancer clustering by identification of similarities and discrepancies of DNA copy numbers using maximal information coefficient.

Autor: N. Kachouie, Nezamoddin¹ (AUTHOR) nezamoddin@fit.edu, Deebani, Wejdan² (AUTHOR), Shutaywi, Meshal² (AUTHOR), Christiani, David C.^3,4 (AUTHOR)

Publikováno v: PLoS ONE. 5/13/2024, Vol. 19 Issue 5, p1-19. 19p.