Works by Salehpour, Shadab

Results: 28

Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE‐diagnosis study (IMPRESsion).

Published in:

Human Mutation, 2022, v. 43, n. 4, p. e1, doi. 10.1002/humu.24328

By:

Ghaffari, Saeed R.;
Rafati, Maryam;
Shadnoush, Mahdi;
Pourbabaee, Shokooh;
Aghighi, Mohammad;
Mirab Samiee, Siamak;
Kermanchi, Jamshid;
Alaei, Mohammad R.;
Salehpour, Shadab;
Amirkashani, Davoud;
Setoodeh, Aria;
Sarkhail, Peymaneh;
Badv, Reza Shervin;
Aminzadeh, Majid;
Shiva, Siamak;
Eshraghi, Peyman;
Moravej, Hossein;
Hashemipour, Mahin;
Rostampour, Noushin;
Hamidieh, َAmir Ali

Publication type:

Article

Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations.

Published in:

Hereditas, 2022, v. 159, n. 1, p. 1, doi. 10.1186/s41065-022-00224-1

By:

Abtahi, Rezvan;
Karimzadeh, Parvaneh;
Aryani, Omid;
Akbarzadeh, Diba;
Salehpour, Shadab;
Rezayi, Alireza;
Tonekaboni, Seyed Hassan;
Emameh, Reza Zolfaghari;
Houshmand, Massoud

Publication type:

Article

Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients.

Published in:

Journal of Molecular Neuroscience, 2022, v. 72, n. 3, p. 555, doi. 10.1007/s12031-021-01907-6

By:

Abtahi, Rezvan;
Karimzadeh, Parvaneh;
Rezayi, Alireza;
Salehpour, Shadab;
Akbarzadeh, Diba;
Tonekaboni, Seyed Hassan;
Emameh, Reza Zolfaghari;
Houshmand, Massoud

Publication type:

Article

Mutations in the VPS13B Gene in Iranian Patients with Different Phenotypes of Cohen Syndrome.

Published in:

Journal of Molecular Neuroscience, 2020, v. 70, n. 1, p. 21, doi. 10.1007/s12031-019-01394-w

By:

Alipour, Nasrin;
Salehpour, Shadab;
Tonekaboni, Seyed Hasan;
Rostami, Masoumeh;
Bahari, Soraya;
Yassaee, Vahidreza;
Miryounesi, Mohammad;
Ghafouri-Fard, Soudeh

Publication type:

Article

ELMO Domain Containing 1 (ELMOD1) Gene Mutation Is Associated with Mental Retardation and Autism Spectrum Disorder.

Published in:

Journal of Molecular Neuroscience, 2019, v. 69, n. 2, p. 312, doi. 10.1007/s12031-019-01359-z

By:

Miryounesi, Mohammad;
Bahari, Sorya;
Salehpour, Shadab;
Alipour, Nasrin;
Ghafouri-Fard, Soudeh

Publication type:

Article

Association of a Novel Nonsense Mutation in KIAA1279 with Goldberg-Shprintzen Syndrome.

Published in:

Iranian Journal of Child Neurology, 2017, v. 11, n. 1, p. 70

By:

SALEHPOUR, Shadab;
HASHEMI-GORJI, Feyzollah;
SOLTANI, Ziba;
MIRYOUNESI, Mohammad;
GHAFOURI-FARD, Soudeh

Publication type:

Article

Diagnostic Methods for Neimann-Pick Type C.

Published in:

2015

By:

SALEHPOUR, Shadab

Publication type:

Abstract

Diagnostic Methods for Gaucher Disease.

Published in:

2015

By:

SALEHPOUR, Shadab

Publication type:

Abstract

Clinical and Molecular Study of NPC in Iran: Report of 5 Novel Mutations.

Published in:

2015

By:

TONEKABON, Hassan;
ARYANI, Omid;
KARIMZADEH, Parvaneh;
ZAMAN, Talieh;
ASHRAFI, Mahmoud Reza;
SALEHPOUR, Shadab;
DEHGHAN MANSHADI, Masoumeh;
KHALILI, Elham;
HOUSHMAND, Masoud

Publication type:

Abstract

A novel SRD5A2 mutation in an Iranian family with sex development disorder.

Published in:

Andrologia, 2021, v. 53, n. 1, p. 1, doi. 10.1111/and.13847

By:

Hashemi‐Gorji, Feyzollah;
Salehpour, Shadab;
Miryounesi, Mohammad;
Mirfakhraie, Reza;
Yassaee, Vahid Reza

Publication type:

Article

Relationship of generalized joint hypermobility with vesicoureteral reflux and urinary tract infection.

Published in:

2014

By:

Pournasiri, Zahra;
Madani, Abbas;
Zandi, Hamed;
Salehpour, Shadab;
Abdollah Gorji, Fatemeh;
Ahmadzahe, Arman

Publication type:

Journal Article

Relationship of Generalized Joint Hypermobility With Vesicoureteral Reflux and Urinary Tract Infection.

Published in:

Iranian Journal of Kidney Diseases, 2014, v. 8, n. 3, p. 189

By:

Pournasiri, Zahra;
Madani, Abbas;
Zandi, Hamed;
Salehpour, Shadab;
Abdollah Gorji, Fatemeh;
Ahmadzahe, Arman

Publication type:

Article

Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1159, doi. 10.1007/s10545-018-0228-6

By:

Shirzadeh, Tina;
Saeidian, Amir Hossein;
Bagherian, Hamideh;
Salehpour, Shadab;
Setoodeh, Aria;
Alaei, Mohammad Reza;
Youssefian, Leila;
Samavat, Ashraf;
Touati, Andrew;
Fallah, Mohammad‐Sadegh;
Vahidnezhad, Hassan;
Karimipoor, Morteza;
Azadmehr, Sarah;
Raeisi, Marzieh;
Bandehi Sarhadi, Ameneh;
Zafarghandi Motlagh, Fatemeh;
Jamali, Mojdeh;
Zeinali, Zahra;
Abiri, Maryam;
Zeinali, Sirous

Publication type:

Article

Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1159, doi. 10.1007/s10545-018-0228-6

By:

Shirzadeh, Tina;
Saeidian, Amir Hossein;
Bagherian, Hamideh;
Salehpour, Shadab;
Setoodeh, Aria;
Alaei, Mohammad Reza;
Youssefian, Leila;
Samavat, Ashraf;
Touati, Andrew;
Fallah, Mohammad-Sadegh;
Vahidnezhad, Hassan;
Karimipoor, Morteza;
Azadmehr, Sarah;
Raeisi, Marzieh;
Bandehi Sarhadi, Ameneh;
Zafarghandi Motlagh, Fatemeh;
Jamali, Mojdeh;
Zeinali, Zahra;
Abiri, Maryam;
Zeinali, Sirous

Publication type:

Article

Whole-Exome Sequencing Uncovers Novel Causative Variants and Additional Findings in Three Patients Affected by Glycogen Storage Disease Type VI and Fanconi−Bickel Syndrome.

Published in:

Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.601566

By:

Eghbali, Maryam;
Fatemi, Kiyana Sadat;
Salehpour, Shadab;
Abiri, Maryam;
Saei, Hassan;
Talebi, Saeed;
Olyaei, Nasrin Alipour;
Yassaee, Vahid Reza;
Modarressi, Mohammad Hossein

Publication type:

Article

Safety and effectiveness of a biosimilar somatropin (Cinnatropin®) in children and adolescents receiving growth hormone therapy over 1 year: a registry-based phase IV study.

Published in:

European Journal of Pediatrics, 2025, v. 184, n. 3, p. 1, doi. 10.1007/s00431-025-06056-1

By:

Rabbani, Ali;
Razzaghy-Azar, Maryam;
Karamizadeh, Zohreh;
Hashemipour, Mahin;
Vakili, Rahim;
Setoodeh, Aria;
Alaei, Mohammadreza;
Ghergherehchi, Robabeh;
Salehpour, Shadab;
Aminzadeh, Majid;
Talea, Ali;
Zaeri, Hossein;
Ghasemi, Mahmoud;
Saki, Forough;
Sabzvari, Araz;
Kafi, Hamidreza

Publication type:

Article

Three novel mutations in Iranian patients with Tay-Sachs disease.

Published in:

2014

By:

Jamali, Solmaz;
Eskandari, Nasim;
Aryani, Omid;
Salehpour, Shadab;
Zaman, Talieh;
Kamalidehghan, Behnam;
Houshmand, Massoud

Publication type:

journal article

Three Novel Mutations in Iranian Patients with Tay-Sachs Disease.

Published in:

Iranian Biomedical Journal, 2014, v. 18, n. 2, p. 114, doi. 10.6091/ibj.1137.2013

By:

Jamali, Solmaz;
Eskandari, Nasim;
Aryani, Omid;
Salehpour, Shadab;
Zaman, Talieh;
Kamalidehghan, Behnam;
Houshmand, Massoud

Publication type:

Article

The treatment and clinical follow-up outcome in Iranian patients with tetrahydrobiopterin deficiency.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 9, p. 1157, doi. 10.1515/jpem-2021-0155

By:

Khani, Soghra;
Barzegari, Mina;
Esmaeilizadeh, Zahra;
Farsian, Pantea;
Alaei, Mohammadreza;
Salehpour, Shadab;
Setoodeh, Aria;
Rohani, Farzaneh;
Samavat, Ashraf;
Zekri, Ali;
Mirzazadeh, Roghieh;
Sadeghi, Sedigheh;
Khatami, Shohreh

Publication type:

Article

Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 10, p. 1215, doi. 10.1515/jpem-2016-0096

By:

Abiri, Maryam;
Talebi, Saeed;
Uitto, Jouni;
Youssefian, Leila;
Vahidnezhad, Hassan;
Shirzad, Tina;
Salehpour, Shadab;
Zeinali, Sirous

Publication type:

Article

A novel splice site mutation in the GNPTAB gene in an Iranian patient with mucolipidosis II α/β.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 8, p. 991, doi. 10.1515/jpem-2016-0032

By:

Hashemi-Gorji, Feyzollah;
Ghafouri-Fard, Soudeh;
Salehpour, Shadab;
Yassaee, Vahid Reza;
Miryounesi, Mohammad

Publication type:

Article

Effects of Miglustat on Stabilization of Neurological Disorder in Niemann–Pick Disease Type C: Iranian Pediatric Case Series.

Published in:

2013

By:

Karimzadeh, Parvaneh;
Tonekaboni, Seyed Hassan;
Ashrafi, Mahmoud Reza;
Shafeghati, Yousef;
Rezayi, Alireza;
Salehpour, Shadab;
Ghofrani, Mohammad;
Taghdiri, Mohammad Mehdi;
Rahmanifar, Ali;
Zaman, Talieh;
Aryani, Omid;
Shoar, Babak Najaf;
Shiva, Farideh;
Tavasoli, Alireza;
Houshmand, Massoud

Publication type:

Case Study

A Double-Blind, Placebo-Controlled Comparison of Letrozole to Oxandrolone Effects upon Growth and Puberty of Children with Constitutional Delay of Puberty and Idiopathic Short Stature.

Published in:

Hormone Research in Paediatrics, 2010, v. 74, n. 6, p. 428, doi. 10.1159/000315482

By:

Salehpour, Shadab;
Alipour, Parvin;
Razzaghy-Azar, Maryam;
Ardeshirpour, Laleh;
Shamshiri, Alireza;
Monfared, Mahtab Farahmand;
Gharib, Atoosa

Publication type:

Article

Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-01969-6

By:

Ghasemi, Mohammad-Reza;
Sadeghi, Hossein;
Hashemi-Gorji, Farzad;
Mirfakhraie, Reza;
Gupta, Vijay;
Ben-Mahmoud, Afif;
Bagheri, Saman;
Razjouyan, Katayoon;
Salehpour, Shadab;
Tonekaboni, Seyed Hassan;
Dianatpour, Mehdi;
Omrani, Davood;
Jang, Mi-Hyeon;
Layman, Lawrence C.;
Miryounesi, Mohammad;
Kim, Hyung-Goo

Publication type:

Article

Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-01798-7

By:

Tehrani Fateh, Sahand;
Mohammad Zadeh, Nadia;
Salehpour, Shadab;
Hashemi-Gorji, Farzad;
Omidi, Ashkan;
Sadeghi, Hossein;
Mirfakhraie, Reza;
Moghimi, Parinaz;
Keyvanfar, Sepideh;
Mohammadi Sarvaleh, Sepideh;
Miryounesi, Mohammad;
Ghasemi, Mohammad-Reza

Publication type:

Article

Broadening the Phenotype and Genotype Spectrum of Glycogen Storage Disease by Unraveling Novel Variants in an Iranian Patient Cohort.

Published in:

Biochemical Genetics, 2025, v. 63, n. 2, p. 1752, doi. 10.1007/s10528-024-10787-5

By:

Moghimi, Parinaz;
Hashemi-Gorji, Farzad;
Jamshidi, Sanaz;
Tehrani Fateh, Sahand;
Salehpour, Shadab;
Sadeghi, Hossein;
Norouzi Rostami, Fatemeh;
Mirfakhraie, Reza;
Miryounesi, Mohammad;
Ghasemi, Mohammad-Reza

Publication type:

Article

Extending and outlining the genotypic and phenotypic spectrum of novel mutations of NALCN gene in IHPRF1 syndrome: identifying recurrent urinary tract infection.

Published in:

Neurological Sciences, 2023, v. 44, n. 12, p. 4491, doi. 10.1007/s10072-023-06960-0

By:

Tehrani Fateh, Sahand;
Bagheri, Saman;
Sadeghi, Hossein;
Salehpour, Shadab;
Fazeli Bavandpour, Fatemehsadat;
Sadeghi, Behnia;
Jamshidi, Sanaz;
Tonekaboni, Seyed Hassan;
Mirfakhraie, Reza;
Miryounesi, Mohammad;
Ghasemi, Mohammad-Reza

Publication type:

Article

Identification of a novel de novo mutation in the CTNNB1 gene in an Iranian patient with intellectual disability.

Published in:

2022

By:

Dashti, Sepide;
Salehpour, Shadab;
Ghasemi, Mohammad-Reza;
Sadeghi, Hossein;
Rostami, Masoumeh;
Hashemi-Gorji, Farzad;
Mirfakhraie, Reza;
Yassaee, Vahid Reza;
Miryounesi, Mohammad

Publication type:

journal article