Bita Bozorgmehr

Autism spectrum disorder trios from consanguineous populations are enriched for rare homozygous variants, identifying 32 new candidate genes

Ricardo Harripaul, Ansa Rabia, Nasim Vasli, Anna Mikhailov et autres

Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) that affects about 1 in 54 children worldwide, imposing enormous economic and socioemotional burden on families and communities. Genetic studies of ASD have identified de novo copy number variants (CNVs) and point mutations …

ca, pk, ir, us, sa, bd, gb (code pays fourni par la source)

Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population

Ayda Abolhassani, Zohreh Fattahi, Maryam Beheshtian, Mahsa Fadaee et autres

Next-generation sequencing (NGS) has been proven to be one of the most powerful diagnostic tools for rare Mendelian disorders. Several studies on the clinical application of NGS in unselected cohorts of Middle Eastern patients have reported a high diagnostic yield of up …

ir (code pays fourni par la source)

P604: Diagnostic utility of NGS testing in a highly consanguineous population: Findings from 1400+ Iranian patients with Mendelian disorders

Ayda Abolhassani, Zohreh Fattahi, Maryam Beheshtian, Mahsa Fadaee et autres

Next Generation Sequencing (NGS) has been proven to be one of the most powerful diagnostic tools for rare Mendelian disorders. Several studies on the clinical application of NGS in unselected cohorts of Middle Eastern patients have reported a high diagnostic yield of …

ir (code pays fourni par la source)

Autism spectrum disorder trios from consanguineous populations are enriched for rare biallelic variants, identifying 32 new candidate genes

Ricardo Harripaul, Ansa Rabia, Nasim Vasli, Anna Mikhailov et autres

Abstract Background Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects about 1 in 36 children in the United States, imposing enormous economic and socioemotional burden on families and communities. Genetic studies of ASD have identified de novo copy number variants …

ca, pk, ir, sa, us, gb (code pays fourni par la source)

TH11. AUTISM SPECTRUM DISORDER TRIOS FROM CONSANGUINEOUS POPULATIONS ARE ENRICHED FOR RARE BIALLELIC VARIANTS

Ricardo Harripaul, Ansa Rabia, Nasim Vasli, Anna Mikhailov et autres

us, ca, pk (code pays fourni par la source)

Introducing a Case of Aarskog-Scott Syndrome

Bita Bozorgmehr, Mohammad Reza Nateghi, Dorin Tajbakhsh

ir, ca (code pays fourni par la source)

WHOLE EXOME TRIO SEQUENCING IDENTIFIES NOVEL VARIANTS FOR AUTISM SPECTRUM DISORDER

Ricardo Harripaul, Nasim Vasli, Ashlyn Rodrigues, Ansa Rabia et autres

ca, sa, us (code pays fourni par la source)

Novel mutations and a severe neurological phenotype in Sjögren-Larsson syndrome patients from Iran

Ariana Kariminejad, Mohammadreza Barzgar, Bita Bozorgmehr, Elham Keshavarz et autres

ir, us (code pays fourni par la source)

Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica

Ariana Kariminejad, Fariba Afroozan, Bita Bozorgmehr, Alireza Ghanadan et autres

Cutis laxa is a heterogeneous condition characterized by redundant, sagging, inelastic, and wrinkled skin. The inherited forms of this disease are rare and can have autosomal dominant, autosomal recessive, or X-linked inheritance. Three of the autosomal recessive cutis laxa syndromes, namely cutis …

ir, sg, be, nl, us (code pays fourni par la source)

Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails

Ariana Kariminejad, Norbert Fonya Ajeawung, Bita Bozorgmehr, Alexandre Dionne‐Laporte et autres

ir, ca, us, nl (code pays fourni par la source)

Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease

Luisa Bonafé, Ariana Kariminejad, Jia Li, Béryl Royer‐Bertrand et autres

OBJECTIVE: To establish a diagnosis and provide counseling and treatment for 3 adult patients from one family presenting with peripheral osteolysis. METHODS: Following clinical and radiographic assessment, exome sequencing, targeted gene resequencing, and determination of enzyme activity in cultured fibroblasts were performed. …

ch, fr, us, in (code pays fourni par la source)

Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts

Ariana Kariminejad, Ahmad Rajaee, Mahmoud Reza Ashrafi, Houman Alizadeh et autres

ir, nl (code pays fourni par la source)