Assessment and Molecular Docking of SARS-CoV-2 NSP3 and NSP12 Mutants in Iranian Patients in Golestan Province
1. Assessment and Molecular Docking of SARS-CoV-2 NSP3 and NSP12 Mutants in Iranian Patients in Golestan Province

Emad Behboudi; Alijan Tabarraei; Alireza Tahamtan; Mohammad Reza Kalani; Abdolvahab Moradi

Volume 10, Issue 7 , July 2022, , Pages 16370-16380

http://dx.doi.org/10.22038/ijp.2022.64007.4862

Abstract
  Background: Molecular analysis of SARS-CoV-2 genome is important to predict viral pathogenicity. In addition to transmission, replication is a key factor in pathogenicity of the virus. ...  Read More
Evaluation of GJB2 and GJB6 Mutations in Patients Afflicted with Non-syndromic Hearing Loss
2. Evaluation of GJB2 and GJB6 Mutations in Patients Afflicted with Non-syndromic Hearing Loss

Seyed Hamid Reza Abtahi; Ali Malekzadeh; Saeed Soheilipour; Mansour Salehi; Roya Taleban; Reyhaneh Rabieian; Mohammad Moafi

Volume 7, Issue 2 , February 2019, , Pages 9053-9060

http://dx.doi.org/10.22038/ijp.2018.34154.3017

Abstract
  Background Non-syndromic hearing loss (NSHL) is assumed as one of the highly prevalent congenital defects in the world. In this regard, gap junction protein beta 2(GJB2), and gap junction ...  Read More
Genetic Diagnosis of a Lethal Form of Autosomal Recessive Polycystic Kidney Disease
3. Genetic Diagnosis of a Lethal Form of Autosomal Recessive Polycystic Kidney Disease

Sara Mirzajani; Mehdi Mohebi; Mohammad Miryounesi; Vahid Reza Yassaee; Soudeh Ghafouri-Fard

Volume 6, Issue 2 , February 2018, , Pages 7033-7037

http://dx.doi.org/10.22038/ijp.2017.27282.2352

Abstract
  Background Autosomal recessive polycystic kidney disease (ARPKD; OMIM number 263200) is a severe early onset hereditary form of polycystic kidney and liver disease. Case Report In the ...  Read More
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Caused by a Novel Mutation in EDAR Gene
4. Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Caused by a Novel Mutation in EDAR Gene

Nader Ebadi; Sepehr Javadi; TayyebAli Salmani; Mohammad Miryounesi; Vahid Reza Yassaee; Soudeh Ghafouri-Fard

Volume 6, Issue 1 , January 2018, , Pages 6899-6902

http://dx.doi.org/10.22038/ijp.2017.28529.2480

Abstract
  Backgrounds: Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder, distinguished by hypotrichosis, hypohidrosis, and hypodontia. HDE can be inherited in X-linked recessive ...  Read More
A CDH3 Mutation is Segregated in an Iranian Family with Congenital Hypotrichosis and Juvenile Macular Dystrophy
5. A CDH3 Mutation is Segregated in an Iranian Family with Congenital Hypotrichosis and Juvenile Macular Dystrophy

Soudeh Ghafouri-Fard; Majid Fardaei; Seyed Mohammad Bagher Tabei; Mehdi Dianatpour; Mohammad Miryounesi

Volume 6, Issue 1 , January 2018, , Pages 6999-7002

http://dx.doi.org/10.22038/ijp.2017.27276.2350

Abstract
  Backgrounds Hypotrichosis with juvenile macular dystrophy (HJMD) is a rare genetic disorder caused from mutations in the Cadherin 3 (CDH3) gene. Results In the present study, we reported ...  Read More
I-Cell Disease with GNPTAB Gene Mutation
6. I-Cell Disease with GNPTAB Gene Mutation

Bhat.Y Ramesh; Tangirala Susmitha; Lewis Leslie; Purkayastha Jayashree

Volume 5, Issue 12 , December 2017, , Pages 6261-6265

http://dx.doi.org/10.22038/ijp.2017.25197.2137

Abstract
  I-cell disease is a rare inherited metabolic disorder resulting from a defective phosphotransferase, characterized by coarse facial features, skeletal abnormalities and mental retardation. ...  Read More
Lipoprotein Lipase (LPL) Gene Mutation: A First Report in Children
7. Lipoprotein Lipase (LPL) Gene Mutation: A First Report in Children

Nadia El Idrissi Slitine; Fatiha Bennaoui; Ouidad Louachama; Leila Habibi; Naima Fdil; Abdelali Tali; Laila Chabaa; Fadl Mrabih Rabou Maoulainine

Volume 5, Issue 10 , October 2017, , Pages 5839-5842

http://dx.doi.org/10.22038/ijp.2017.25461.2163

Abstract
  Genetic hyperchylomicronemia is a rare autosomal recessive disorder of lipoprotein metabolism estimated to affect approximately one per million individuals. We report a case with a ...  Read More
A New Nonsense Mutation in CDKL5 Gene in a Male Patient with Early Onset Refractory Epilepsy: a Case Report
8. A New Nonsense Mutation in CDKL5 Gene in a Male Patient with Early Onset Refractory Epilepsy: a Case Report

Soudeh Ghafouri-Fard; Shadab Salehpour; Vahidreza Yassaee; Mohammad Miryounesi

Volume 4, Issue 2 , February 2016, , Pages 1315-1318

http://dx.doi.org/10.22038/ijp.2016.6394

Abstract
  Background The X-linked cyclin-dependent kinase like 5 (CDKL5/STK9) gene has been shown to be responsible for a severe encephalopathy condition characterized by early onset of epilepsy ...  Read More
Association of mtDNA mutation with Autism in Iranian patients
9. Association of mtDNA mutation with Autism in Iranian patients

Massoud Houshmand; Kazem Mousavizadeh; Mohammad Askari; Amin Reza Nikpour; Mohsen Mazidi; Maryam Tavafjadid

Volume 1, Issue 1 , August 2013, , Pages 39-43

http://dx.doi.org/10.22038/ijp.2013.2142

Abstract
  The autism spectrum disorders (ASD) are amongst the most heritable complex disorders. Although there have been many efforts to locate the genes associated with ASD risk, many has been ...  Read More