Miryounesi M - Search Results

1

Leigh syndrome associated with a novel mutation in the COX15 gene.

Miryounesi M, Fardaei M, Tabei SM, Ghafouri-Fard S. Miryounesi M, et al. J Pediatr Endocrinol Metab. 2016 Jun 1;29(6):741-4. doi: 10.1515/jpem-2015-0396. J Pediatr Endocrinol Metab. 2016. PMID: 26959537

2

A new missense mutation in the BCKDHB gene causes the classic form of maple syrup urine disease (MSUD).

Miryounesi M, Ghafouri-Fard S, Goodarzi H, Fardaei M. Miryounesi M, et al. J Pediatr Endocrinol Metab. 2015 May;28(5-6):673-5. doi: 10.1515/jpem-2014-0341. J Pediatr Endocrinol Metab. 2015. PMID: 25381949

3

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

Hashemi-Gorji F, Ghafouri-Fard S, Salehpour S, Yassaee VR, Miryounesi M. Hashemi-Gorji F, et al. Among authors: miryounesi m. J Pediatr Endocrinol Metab. 2016 Aug 1;29(8):991-3. doi: 10.1515/jpem-2016-0032. J Pediatr Endocrinol Metab. 2016. PMID: 27180337

4

Segregation of a novel MLH1 mutation in an Iranian Lynch syndrome family.

Ghafouri-Fard S, Fardaei M, Lankarani KB, Miryounesi M. Ghafouri-Fard S, et al. Among authors: miryounesi m. Gene. 2015 Oct 10;570(2):304-5. doi: 10.1016/j.gene.2015.07.005. Epub 2015 Jul 3. Gene. 2015. PMID: 26149658

5

A case report: Autosomal recessive microcephaly caused by a novel mutation in MCPH1 gene.

Ghafouri-Fard S, Fardaei M, Gholami M, Miryounesi M. Ghafouri-Fard S, et al. Among authors: miryounesi m. Gene. 2015 Oct 15;571(1):149-50. doi: 10.1016/j.gene.2015.07.058. Epub 2015 Jul 18. Gene. 2015. PMID: 26192461

6

Autosomal Recessive Nonsyndromic Hearing Loss: A Case Report with a Mutation in TRIOBP Gene.

Fardaei M, Sarrafzadeh S, Ghafouri-Fard S, Miryounesi M. Fardaei M, et al. Among authors: miryounesi m. Int J Mol Cell Med. 2015 Fall;4(4):245-7. Int J Mol Cell Med. 2015. PMID: 27014650 Free PMC article.

7

A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia.

Miryounesi M Md PhD, Ghafouri-Fard S Md PhD, Fardaei M PhD. Miryounesi M Md PhD, et al. Iran J Med Sci. 2016 Sep;41(5):456-8. Iran J Med Sci. 2016. PMID: 27582597 Free PMC article.

8

A novel 5 nucleotide deletion in XPA gene is associated with severe neurological abnormalities.

Ghafouri-Fard S, Fardaei M, Miryounesi M. Ghafouri-Fard S, et al. Among authors: miryounesi m. Gene. 2016 Jan 15;576(1 Pt 2):379-80. doi: 10.1016/j.gene.2015.08.039. Epub 2015 Aug 21. Gene. 2016. PMID: 26302748 No abstract available.

9

A Novel Nonsense Mutation in PANK2 Gene in Two Patients with Pantothenate Kinase-Associated Neurodegeneration.

Ghafouri-Fard S, Yassaee VR, Rezayi A, Hashemi-Gorji F, Alipour N, Miryounesi M. Ghafouri-Fard S, et al. Among authors: miryounesi m. Int J Mol Cell Med. 2016 Fall;5(4):255-259. Epub 2016 Oct 23. Int J Mol Cell Med. 2016. PMID: 28357202 Free PMC article.

10

Limb Girdle Muscular Dystrophy Type 2E Due to a Novel Large Deletion in SGCB Gene.

Ghafouri-Fard S, Hashemi-Gorji F, Fardaei M, Miryounesi M. Ghafouri-Fard S, et al. Among authors: miryounesi m. Iran J Child Neurol. 2017 Summer;11(3):57-60. Iran J Child Neurol. 2017. PMID: 28883879 Free PMC article.

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