The Use of CGH Arrays for Identifying Copy Number Variations in Children with Autism Spectrum Disorder.

Autor: Kucińska A; Department of Genetics, Polish Mother's Memorial Hospital-Research Institute, 93-338 Lodz, Poland., Hawuła W; Department of Genetics, Polish Mother's Memorial Hospital-Research Institute, 93-338 Lodz, Poland., Rutkowska L; Department of Genetics, Polish Mother's Memorial Hospital-Research Institute, 93-338 Lodz, Poland., Wysocka U; Department of Genetics, Polish Mother's Memorial Hospital-Research Institute, 93-338 Lodz, Poland., Kępczyński Ł; Department of Genetics, Polish Mother's Memorial Hospital-Research Institute, 93-338 Lodz, Poland., Piotrowicz M; Department of Genetics, Polish Mother's Memorial Hospital-Research Institute, 93-338 Lodz, Poland., Chilarska T; Department of Genetics, Polish Mother's Memorial Hospital-Research Institute, 93-338 Lodz, Poland., Wieczorek-Cichecka N; Department of Genetics, Polish Mother's Memorial Hospital-Research Institute, 93-338 Lodz, Poland., Połatyńska K; Department of Developmental Neurology and Epileptology, Polish Mother's Memorial Hospital-Research Institute, 93-338 Lodz, Poland., Przysło Ł; Department of Developmental Neurology and Epileptology, 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: Brain sciences [Brain Sci] 2024 Mar 13; Vol. 14 (3). Date of Electronic Publication: 2024 Mar 13.

Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.

Autor: Dawidziuk M; Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland., Gambin T; Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland., Bukowska-Olech E; Department of Medical Genetics, Poznan University of Medical Sciences, 60-806 Poznan, Poland., Antczak-Marach D; Clinic of Paediatric Neurology, Institute of Mother and Child, 01-211 Warsaw, Poland., Badura-Stronka M; Department of Medical Genetics, Poznan University of Medical Sciences, 60-806 Poznan, Poland., Buda P; Department of Pediatrics, Nutrition, and Metabolic Diseases, The Children's Memorial Health Institute, 04-730 Warsaw, Poland., Budzynska E; Department of Clinical Genetics, Central Clinical Hospital, Medical University of Lodz, 92-213 Lodz, Poland., Castaneda J; Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland., Chilarska T; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, 93-338 Lodz, Poland., Czyzyk E; Clinical Department of Child Neurology, Clinical Central Hospital No. 2 in Rzeszow, 35-301 Rzeszow, Poland., Eckersdorf-Mastalerz A; Department of Clinical Genetics, Central Clinical Hospital, Medical University of Lodz, 92-213 Lodz, Poland., Fijak-Moskal J; Department of Medical Genetics, Jagiellonian University Medical College, 30-663 Krakow, Poland., Gieruszczak-Bialek D; Department of Paediatrics, Medical University of Warsaw, 01-184 Warsaw, Poland., Glodek-Brzozowska E; Clinical Department of Child Neurology, Clinical Central Hospital No. 2 in Rzeszow, 35-301 Rzeszow, Poland., Goszczanska-Ciuchta A; Clinic of Paediatric Neurology, Institute of Mother and Child, 01-211 Warsaw, Poland., Grzeszykowska-Podymniak M; Department of Nephrology, Kidney Transplantation and Hypertension, The Children's Memorial Health Institute, 04-730 Warsaw, Poland., Gurda B; Department of Developmental Neurology, Poznan University of Medical Sciences, 60-355 Poznan, Poland., Jakubiuk-Tomaszuk A; Department of Pediatric Neurology and Rehabilitation, Medical University of Bialystok, 15-274 Bialystok, Poland., Jamroz E; Department of Pediatric and Neurology of Developmental Age, Saint John Paul II Upper Silesian Child Health Centre, The Independent Public Clinical Hospital No. 6 of the Medical University of Silesia, 40-055 Katowice, Poland., Janeczko M; Department of Genetics, Institute of Pediatrics, Jagiellonian University Medical College, 30-663 Krakow, Poland., Jedlińska-Pijanowska D; Department of Neonatology and Neonatal Intensive Care, The Children's Memorial Health Institute, 04-730 Warsaw, Poland., Jurek M; Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland., Karolewska D; Specialist Mother and Child Hospital Complex in Poznan, 61-825 Poznan, Poland., Kazmierczak A; Independent Public Healthcare Center, Department of Pediatric Neurology, Multidisciplinary Hospital, 67-100 Nowa Sol, Poland., Kleist T; Department of Pediatric Neurology Neurological Outpatient Clinic for Children, Municipal Hospital Complex, 41-500 Chorzow, Poland., Kochanowska I; Individual Medical Practice in Pediatric Neurology, 70-592 Szczecin, Poland., Krajewska-Walasek M; Department of Medical Genetics, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, 01-138 Warsaw, Poland., Kufel K; Department of Neonatal and Intensive Care, Medical University of Warsaw, 01-184 Warsaw, Poland., Kutkowska-Kaźmierczak A; Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland., Lipiec A; Clinic of Paediatric Neurology, Institute of Mother and Child, 01-211 Warsaw, Poland., Maksym-Gasiorek D; Department of Neonatology, Neonatal Pathology and Intensive Care, The Children's Memorial Health Institute, 04-730 Warsaw, Poland., Materna-Kiryluk A; Department of Medical Genetics, Poznan University of Medical Sciences, 60-806 Poznan, Poland.; Polish Registry of Congenital Malformations, Department of Medical Genetics, Poznan University of Medical Sciences, 60-806 Poznan, Poland., Mazurkiewicz H; Clinic of Paediatric Neurology, Institute of Mother and Child, 01-211 Warsaw, Poland., Milewski M; Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland., Pavina-Guglas T; Department of Neonatology, Neonatal Pathology and Intensive Care, The Children's Memorial Health Institute, 04-730 Warsaw, Poland., Pietrzyk A; Department of Genetics and Pathomorphology, Faculty of Medicine and Health Sciences, University of Zielona Gora, 65-046 Zielona Gora, Poland., Posmyk R; Department of Clinical Genetics, Medical University of Bialystok, 15-089 Bialystok, Poland., Pyrkosz A; Department of Medical Genetics, University of Rzeszow, 35-959 Rzeszow, Poland., Rudzka-Dybala M; Clinic of Paediatric Neurology, Institute of Mother and Child, 01-211 Warsaw, Poland., Slezak R; Department of Genetics, Wroclaw Medical University, 50-368 Wroclaw, Poland., Wisniewska M; Department of Medical Genetics, Poznan University of Medical Sciences, 60-806 Poznan, Poland., Zalewska-Miszkurka Z; Clinic of Paediatric Neurology, Institute of Mother and Child, 01-211 Warsaw, Poland., Szczepanik E; Clinic of Paediatric Neurology, Institute of Mother and Child, 01-211 Warsaw, Poland., Obersztyn E; Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland., Bekiesinska-Figatowska M; Department of Diagnostic Imaging, Institute of Mother and Child, 01-211 Warsaw, Poland., Gawlinski P; Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland., Wiszniewski W; Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland.

Publikováno v: Genes [Genes (Basel)] 2021 Dec 18; Vol. 12 (12). Date of Electronic Publication: 2021 Dec 18.

Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome.

Autor: Jakubiak A; Department of Paediatrics, Division of Paediatric Propaedeutics and Rare Disorders, Medical University, Wroclaw, Poland. aleksandra.jakubiak@umed.wroc.pl., Szczałuba K; Department of Medical Genetics, Medical University, Warsaw, Poland., Badura-Stronka M; Department of Medical Genetics, Medical University, Poznan, Poland., Kutkowska-Kaźmierczak A; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland., Jakubiuk-Tomaszuk A; Department of Neurology and Children Rehabilitation, Medical University, Bialystok, Poland.; Medical Genetics Unit, Mastermed Medical Center, Bialystok, Poland., Chilarska T; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland., Pilch J; Department of Paediatric Neurology, Medical University of Silesia, Katowice, Poland., Braun-Walicka N; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland., Castaneda J; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland., Wołyńska K; Department of Medical Genetics, Medical University, Poznan, Poland., Wiśniewska M; Department of Medical Genetics, Medical University, Poznan, Poland., Kugaudo M; Department of Children and Adolescent Psychiatry, University Clinical Centre, Paediatric Teaching Clinical Hospital, Warsaw, Poland., Bielecka M; Department of Pharmaceutical Biotechnology, Medical University, Wroclaw, Poland., Pesz K; Department of Genetics, Medical University, Wroclaw, Poland., Wierzba J; Department of Internal and Paediatric Nursing, Institute of Nursing and Midwifery, Medical University Gdansk, Gdansk, Poland., Latos-Bieleńska A; Department of Medical Genetics, Medical University, Poznan, Poland., Obersztyn E; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland., Krajewska-Walasek M; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland., Śmigiel R; Department of Paediatrics, Division of Paediatric Propaedeutics and Rare Disorders, Medical University, Wroclaw, Poland.

Publikováno v: Journal of applied genetics [J Appl Genet] 2021 Sep; Vol. 62 (3), pp. 477-485. Date of Electronic Publication: 2021 May 12.

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Diagnostic yield and novel candidate genes for neurodevelopmental disorders by exome sequencing in an unselected cohort with microcephaly.

Autor: Wang, Chunli¹ (AUTHOR), Zhou, Wei¹ (AUTHOR), Zhang, Luyan¹ (AUTHOR), Fu, Luhan¹ (AUTHOR), Shi, Wei¹ (AUTHOR), Qing, Yan² (AUTHOR), Lu, Fen³ (AUTHOR), Tang, Jian³ (AUTHOR), Gao, Xiucheng⁴ (AUTHOR), Zhang, Aihua¹ (AUTHOR), Jia, Zhanjun¹ (AUTHOR), Zhang, Yue⁵ (AUTHOR) zyflora2006@hotmail.com, Zhao, Xiaoke³ (AUTHOR) xiaokezhao@njmu.edu.cn, Zheng, Bixia¹ (AUTHOR) bixia.zheng@njmu.edu.cn

Publikováno v: BMC Genomics. 7/27/2023, Vol. 24 Issue 1, p1-14. 14p.