Evaluation of Chromosome Microarray Analysis in a Large Cohort of Females with Autism Spectrum Disorders: A Single Center Italian Study

by Sara Calderoni, Ivana Ricca, Giulia Balboni, Romina Cagiano, Denise Cassandrini, Stefano Doccini, Angela Cosenza, Deborah Tolomeo, Raffaella Tancredi, Filippo Maria Santorelli, Filippo Muratori
Published 2020-10-01

LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy

by Pere Soler-Palacín, Pere Soler-Palacín, Marina Garcia-Prat, Marina Garcia-Prat, Andrea Martín-Nalda, Andrea Martín-Nalda, Clara Franco-Jarava, Clara Franco-Jarava, Jacques G. Rivière, Jacques G. Rivière, Alberto Plaja, Daniela Bezdan, Daniela Bezdan, Mattia Bosio, Mattia Bosio, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Stephan Ossowski, Stephan Ossowski, Stephan Ossowski, Roger Colobran, Roger Colobran, Roger Colobran
Published 2018-10-01

Integration of genomic copy number variations and chemotherapy-response biomarkers in pediatric sarcoma

by Lijun Cheng, Pankita H. Pandya, Enze Liu, Pooja Chandra, Limei Wang, Mary E. Murray, Jacquelyn Carter, Michael Ferguson, Mohammad Reza Saadatzadeh, Khadijeh Bijangi-Visheshsaraei, Mark Marshall, Lang Li, Karen E. Pollok, Jamie L. Renbarger
Published 2019-01-01

Chromosome 19p13.3 deletion in a child with Peutz-Jeghers syndrome, congenital heart defect, high myopia, learning difficulties and dysmorphic features: clinical and molecular char...

by Josiane Souza, Fábio Faucz, Vanessa Sotomaior, Aguinaldo Bonalumi Filho, Jill Rosenfeld, Salmo Raskin
Published 2011-01-01

Co-occurrence of Xp21 microduplication encompassing the DMD locus in conjunction with 17p12/PMP22 microduplication in a female with Charcot–Marie–Tooth disease type 1A

by Alpa Sidhu, Michael Hankerd, Kelly Kennelly, Melissa Kristofice, Salah Ebrahim
Published 2015-04-01

18q12.3‐q21.1 microdeletion detected in the prenatally alcohol‐exposed dizygotic twin with discordant fetal alcohol syndrome phenotype

by Hanna Kahila, Heidi Marjonen, Pauliina Auvinen, Kristiina Avela, Raili Riikonen, Nina Kaminen‐Ahola
Published 2020-04-01

Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature

by Sifakis Stavros, Manolakos Emmanouil, Vetro Annalisa, Kappou Dimitra, Peitsidis Panagiotis, Kontodiou Maria, Garas Antonios, Vrachnis Nikolaos, Konstandinidou Anastasia, Zuffardi Orsetta, Orru Sandro, Papoulidis Ioannis
Published 2012-02-01

Prenatal diagnosis of a new case: De novo balanced non-Robertsonian translocation involving t(15;22)(p11.2;q11.2)

by Atli Eİ, Gurkan H, Atli E, Tozkir H, Varol GF, İnan C
Published 2018-12-01