Ariana Kariminejad
VU University Medical Center
134 Papers
372 Citations
Ariana Kariminejad is an academic researcher from VU University Medical Center. The author has contributed to research in topics: Exome sequencing & Biology. The author has an hindex of 26, co-authored 124 publications. Previous affiliations of Ariana Kariminejad include Yahoo!.
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Papers
SZT2 mutation in a boy with intellectual disability, seizures and autistic features.
Ariana Kariminejad,Hilda Yazdan,Elham Rahimian,Zahra Kalhor,Zohreh Fattahi,Mehrshid Faraji Zonooz,Hossein Najmabadi,Mahmoud Reza Ashrafi +7 more
TL;DR: A six-year-old boy with a novel homozygous mutation in SZT2 gene with intellectual disability, seizures, absent speech and autistic features is reported, the first patient with autistic features.
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Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18
Ariana Kariminejad,Roxana Kariminejad,Azadeh Moshtagh,Maryam Zanganeh,Mohammad Hassan Kariminejad,Stefan Neuenschwander,Michal J. Okoniewski,Eva Wey,Albert Schinzel,Alessandra Baumer +9 more
TL;DR: It seems to be the first reported case with two opposite recombinant chromosomes that compensate each other and lead to segmental uniparental disomy for two segments on the chromosome, one maternal and the other paternal.
Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects.
Valentina Guida,Francesca Piceci Sparascio,Francesca Piceci Sparascio,Laura Bernardini,Francesco Pancheri,Daniela Melis,Daniela Melis,Dario Cocciadiferro,Dario Cocciadiferro,Mario Pagnoni,Marianna Puzzo,Marina Goldoni,Chiara Barone,Hossein Hozhabri,Carolina Putotto,Maria Grazia Giuffrida,Silvana Briuglia,Orazio Palumbo,Sebastiano Bianca,Franco Stanzial,Francesco Benedicenti,Ariana Kariminejad,Francesca Forzano,Leila B. Salehi,Teresa Mattina,Francesco Brancati,Marco Castori,Massimo Carella,Maria Teresa Fadda,Giorgio Iannetti,Bruno Dallapiccola,Maria Cristina Digilio,Bruno Marino,Marco Tartaglia,Alessandro De Luca +34 more
TL;DR: In this article, the occurrence of copy number variants (CNVs) in a cohort of 19 unrelated OAVS individuals with congenital heart defect was assessed, and the authors suggest that CNVs affecting gene dosage likely contribute to the genetic heterogeneity of OAVs, and implicate the PAX-SIX-EYA-DACH network as novel pathway involved in the etiology of this developmental trait.
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Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations.
Bita Bozorgmehr,Ariana Kariminejad,Shahriar Nafissi,Bita Jebelli,Urtizberea Andoni,Corine Gartoux,C. Ledeuil,Valérie Allamand,Pascale Richard,Mohammad-Hassan Karimi-Nejad +9 more
TL;DR: In this paper, four unrelated families with six affected children with typical UCMD with dominant and recessive inheritance were analyzed for COLVI secretion in skin fibroblast culture and the secretion of COLVI was performed by sequencing of complementary DNA.
•Journal Article
Restrictive dermopathy. Molecular diagnosis of restrictive dermopathy in a stillborn fetus from a consanguineous Iranian family.
TL;DR: The first case of restrictive dermopathy in a stillborn fetus of Iranian origin is described, confirmed by molecular genetic diagnosis.
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