Genetic Diagnosis of a Lethal Form of Autosomal Recessive Polycystic Kidney Disease
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

https://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
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

https://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
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

https://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
A New Nonsense Mutation in CDKL5 Gene in a Male Patient with Early Onset Refractory Epilepsy: a Case Report
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

https://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