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

Authors: Kucińska, Agata, Hawuła, Wanda, Rutkowska, Lena, Wysocka, Urszula, Kępczyński, Łukasz, Piotrowicz, Małgorzata, Chilarska, Tatiana, Wieczorek-Cichecka, Nina, Połatyńska, Katarzyna, Przysło, Łukasz, Gach, Agnieszka

Source: Brain Sciences (2076-3425); Mar2024, Vol. 14 Issue 3, p273, 15p

Subject Terms: CHILDREN with autism spectrum disorders, COMMUNICATIVE disorders, AUTISM spectrum disorders, COMPARATIVE genomic hybridization, DNA copy number variations

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

Authors: Sałacińska, Kinga, Pinkier, Iwona, Rutkowska, Lena, Chlebna-Sokół, Danuta, Jakubowska-Pietkiewicz, Elżbieta, Michałus, Izabela, Kępczyński, Łukasz, Salachna, Dominik, Wieczorek-Cichecka, Nina, Piotrowicz, Małgorzata, Chilarska, Tatiana, Jamsheer, Aleksander, Matusik, Paweł, Wilk, Małgorzata, Petriczko, Elżbieta, Giżewska, Maria, Stecewicz, Iwona, Walczak, Mieczysław, Rybak-Krzyszkowska, Magda, Lewiński, Andrzej

Source: Frontiers in Endocrinology; 2023, p01-10, 10p

Subject Terms: OSTEOGENESIS imperfecta, COLLAGEN, GENETIC variation, CONNECTIVE tissues, NUCLEOTIDE sequencing

Correction: Kucińska et al. The Use of CGH Arrays for Identifying Copy Number Variations in Children with Autism Spectrum Disorder. Brain Sci. 2024, 14 , 273.

Authors: Kucińska, Agata, Hawuła, Wanda, Rutkowska, Lena, Wysocka, Urszula, Kępczyński, Łukasz, Piotrowicz, Małgorzata, Chilarska, Tatiana, Wieczorek-Cichecka, Nina, Połatyńska, Katarzyna, Przysło, Łukasz, Gach, Agnieszka

Source: Brain Sciences (2076-3425); Jun2024, Vol. 14 Issue 6, p529, 2p

Subject Terms: CHILDREN with autism spectrum disorders

Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35.

Authors: Walczak-Sztulpa, Joanna¹, jsztulpa@umed.poznan.pl, Wawrocka, Anna¹, Sta(nczyk, Małgorzata², Pesz, Karolina³, Dudarewicz, Lech⁴, Chrul, Sławomir², Bukowska-Olech, Ewelina¹, Wieczorek-Cichecka, Nina⁴, Arts, Heleen H.^5,6, Oud, Machteld M.^7,8, Śmigiel, Robert⁹, Grenda, Ryszard¹⁰, Obersztyn, Ewa¹¹, Chrzanowska, Krystyna H.¹², Latos-Biele(nska, Anna¹

Source: American Journal of Medical Genetics. Part A; Apr2021, Vol. 185 Issue 4, p1195-1203, 9p