A Novel Missense Mutation in the ALDH13 Gene Causes Anophthalmia in Two Unrelated Iranian Consanguineous Families

di Dehghani, Mohammadreza, Dehghan Tezerjani, Masoud, Metanat, Zahra, Vahidi Mehrjardi, Mohammad Yahya
Pubblicato in Int J Mol Cell Med (2017)

A Novel PCNT Frame Shift Variant (c.7511delA) Causing Osteodysplastic Primordial Dwarfism of Majewski Type 2 (MOPD II)

di Dehghan Tezerjani, Masoud, Vahidi Mehrjardi, Mohammad Yahya, Hozhabri, Hossein, Rahmanian, Masoud
Pubblicato in Front Pediatr (2020)

Molecular biomarkers in diabetes mellitus (DM)

di Aghaei Zarch, Seyed Mohsen, Dehghan Tezerjani, Masoud, Talebi, Mehrdad, Vahidi Mehrjardi, Mohammad Yahya
Pubblicato in Med J Islam Repub Iran (2020)

Newborn with Supernumerary Marker Chromosome Derived from Chromosomes 11 And 22- A Case Report

di VAHIDI MEHRJARDI, Mohammad Yahya, DEHGHAN TEZERJANI, Masoud, NORI-SHADKAM, Mahmoud, KALANTAR, Seyed Mehdi, DEHGHANI, Mohammadreza
Pubblicato in Iran J Public Health (2016)

A Novel Loss-of-Function Mutation in HOXB1 Associated with Autosomal Recessive Hereditary Congenital Facial Palsy in a Large Iranian Family

di Vahidi Mehrjardi, Mohammad Yahya, Maroofian, Reza, Kalantar, Seyed M., Jaafarinia, Mojtaba, Chilton, John, Dehghani, Mohammadreza
Pubblicato in Mol Syndromol (2017)

Circulating miR-15a and miR-222 as Potential Biomarkers of Type 2 Diabetes

di Sadeghzadeh, Salman, Dehghani Ashkezari, Mahmood, Seifati, Seyed Morteza, Vahidi Mehrjardi, Mohammad Yahya, Dehghan Tezerjani, Masoud, Sadeghzadeh, Sara, Ladan, Seyed Amir Behtash
Pubblicato in Diabetes Metab Syndr Obes (2020)

Circulating microRNA-122, microRNA-126-3p and microRNA-146a are associated with inflammation in patients with pre-diabetes and type 2 diabetes mellitus: A case control study

di Zeinali, Fahime, Aghaei Zarch, Seyed Mohsen, Jahan-Mihan, Alireza, Kalantar, Seyed Mehdi, Vahidi Mehrjardi, Mohammad Yahya, Fallahzadeh, Hossein, Hosseinzadeh, Mahdieh, Rahmanian, Masoud, Mozaffari-Khosravi, Hassan
Pubblicato in PLoS One (2021)

A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report

di DEHGHAN TEZERJANI, Masoud, MAROOFIAN, Reza, VAHIDI MEHRJARDI, Mohammad Yahya, CHIOZA, Barry A., ZAMANINEJAD, Shiva, KALANTAR, Seyed Mehdi, NORI-SHADKAM, Mahmoud, GHADIMI, Hamidreza, BAPLE, Emma L., CROSBY, Andrew H., DEHGHANI, Mohammadreza
Pubblicato in Iran J Public Health (2016)

Effects of synbiotic supplementation on gut microbiome, serum level of TNF-α, and expression of microRNA-126 and microRNA-146a in patients with type 2 diabetes mellitus: study prot...

di Zeinali, Fahime, Aghaei Zarch, Seyed Mohsen, Vahidi Mehrjardi, Mohammad Yahya, Kalantar, Seyed Mehdi, Jahan-mihan, Alireza, Karimi-Nazari, Elham, Fallahzadeh, Hossein, Hosseinzadeh-Shamsi-Anar, Mahdieh, Rahmanian, Masoud, Fazeli, Mohammad Reza, Mozaffari-Khosravi, Hassan
Pubblicato in Trials (2020)

Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum

di Kaiyrzhanov, Rauan, Wortmann, Saskia, Reid, Taryn, Dehghani, Mohammadreza, Vahidi Mehrjardi, Mohammad Yahya, Alhaddad, Bader, Wagner, Matias, Deschauer, Marcus, Cordts, Isabell, Fernandez-Murray, J Pedro, Treffer, Veronika, Metanat, Zahra, Pittman, Alan, Houlden, Henry, Meitinger, Thomas, Carroll, Christopher, McMaster, Christopher R, Maroofian, Reza
Pubblicato in Brain (2021)

Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration

di Muto, Valentina, Flex, Elisabetta, Kupchinsky, Zachary, Primiano, Guido, Galehdari, Hamid, Dehghani, Mohammadreza, Cecchetti, Serena, Carpentieri, Giovanna, Rizza, Teresa, Mazaheri, Neda, Sedaghat, Alireza, Vahidi Mehrjardi, Mohammad Yahya, Traversa, Alice, Di Nottia, Michela, Kousi, Maria M., Jamshidi, Yalda, Ciolfi, Andrea, Caputo, Viviana, Malamiri, Reza Azizi, Pantaleoni, Francesca, Martinelli, Simone, Jeffries, Aaron R., Zeighami, Jawaher, Sherafat, Amir, Di Giuda, Daniela, Shariati, Gholam Reza, Carrozzo, Rosalba, Katsanis, Nicholas, Maroofian, Reza, Servidei, Serenella, Tartaglia, Marco
Pubblicato in Neurology (2018)

Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

di McMillan, Hugh J., Telegrafi, Aida, Singleton, Amanda, Cho, Megan T., Lelli, Daniel, Lynn, Francis C., Griffin, Julie, Asamoah, Alexander, Rinne, Tuula, Erasmus, Corrie E., Koolen, David A., Haaxma, Charlotte A., Keren, Boris, Doummar, Diane, Mignot, Cyril, Thompson, Islay, Velsher, Lea, Dehghani, Mohammadreza, Vahidi Mehrjardi, Mohammad Yahya, Maroofian, Reza, Tchan, Michel, Simons, Cas, Christodoulou, John, Martín-Hernández, Elena, Guillen Sacoto, Maria J., Henderson, Lindsay B., McLaughlin, Heather, Molday, Laurie L., Molday, Robert S., Yoon, Grace
Pubblicato in Orphanet J Rare Dis (2018)

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder

di Dias, Caroline M., Punetha, Jaya, Zheng, Céline, Mazaheri, Neda, Rad, Abolfazl, Efthymiou, Stephanie, Petersen, Andrea, Dehghani, Mohammadreza, Pehlivan, Davut, Partlow, Jennifer N., Posey, Jennifer E., Salpietro, Vincenzo, Gezdirici, Alper, Malamiri, Reza Azizi, Al Menabawy, Nihal M., Selim, Laila A., Vahidi Mehrjardi, Mohammad Yahya, Banu, Selina, Polla, Daniel L., Yang, Edward, Rezazadeh Varaghchi, Jamileh, Mitani, Tadahiro, van Beusekom, Ellen, Najafi, Maryam, Sedaghat, Alireza, Keller-Ramey, Jennifer, Durham, Leslie, Coban-Akdemir, Zeynep, Karaca, Ender, Orlova, Valeria, Schaeken, Lieke L.M., Sherafat, Amir, Jhangiani, Shalini N., Stanley, Valentina, Shariati, Gholamreza, Galehdari, Hamid, Gleeson, Joseph G., Walsh, Christopher A., Lupski, James R., Seiradake, Elena, Houlden, Henry, van Bokhoven, Hans, Maroofian, Reza
Pubblicato in Am J Hum Genet (2019)