Diniz G - Search Results

1

Clinical and genetic characterization of PYROXD1-related myopathy patients from Turkey.

Daimagüler HS, Akpulat U, Özdemir Ö, Yis U, Güngör S, Talim B, Diniz G, Baydan F, Thiele H, Altmüller J, Nürnberg P, Cirak S. Daimagüler HS, et al. Among authors: diniz g. Am J Med Genet A. 2021 Jun;185(6):1678-1690. doi: 10.1002/ajmg.a.62148. Epub 2021 Mar 10. Am J Med Genet A. 2021. PMID: 33694278

2

A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima.

Koehler K, Milev MP, Prematilake K, Reschke F, Kutzner S, Jühlen R, Landgraf D, Utine E, Hazan F, Diniz G, Schuelke M, Huebner A, Sacher M. Koehler K, et al. Among authors: diniz g. J Med Genet. 2017 Mar;54(3):176-185. doi: 10.1136/jmedgenet-2016-104108. Epub 2016 Oct 5. J Med Genet. 2017. PMID: 27707803

3

Occipital cortex dysgenesis with white matter changes due to mutations in Laminin a2.

Yiş U, Dixit V, Işıkay S, Karakaya M, Baydan F, Diniz G, Polat İ, Hız-Kurul S, Çırak S. Yiş U, et al. Among authors: diniz g. Turk J Pediatr. 2017;59(3):338-341. doi: 10.24953/turkjped.2017.03.018. Turk J Pediatr. 2017. PMID: 29376585 Free article.

Yis U, Dixit V, Isikay S, Karakaya M, Baydan F, Diniz G, Polat I, Hiz-Kurul S, Cirak S. Occipital cortex dysgenesis with white matter changes due to mutations in Laminin a2. ...

Yis U, Dixit V, Isikay S, Karakaya M, Baydan F, Diniz G, Polat I, Hiz-Kurul S, Cirak S. Occipital cortex dysgenesis with white …

4

Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey.

Yiş U, Diniz G, Hazan F, Daimagüler HS, Baysal BT, Baydan F, Akinci G, Ünalp A, Aktan G, Bayram E, Hiz S, Paketçi C, Okur D, Özer E, Danyeli AE, Polat M, Uyanik G, Çirak S. Yiş U, et al. Among authors: diniz g. Acta Myol. 2018 Sep 1;37(3):210-220. eCollection 2018 Sep. Acta Myol. 2018. PMID: 30838351 Free PMC article.

5

Impact of next-generation sequencing panels in the evaluation of limb-girdle muscular dystrophies.

Özyilmaz B, Kirbiyik Ö, Özdemir TR, Kaya Özer Ö, Kutbay YB, Erdogan KM, Güvenç MS, Kale MY, Gazeteci H, Kiliç B, Sertpoyraz F, Diniz G, Baydan F, Gençpinar P, Dündar NO, Yiş U. Özyilmaz B, et al. Among authors: diniz g. Ann Hum Genet. 2019 Sep;83(5):331-347. doi: 10.1111/ahg.12319. Epub 2019 May 7. Ann Hum Genet. 2019. PMID: 31066050

6

Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family.

Yiş U, Hiz S, Güneş S, Diniz G, Baydan F, Töpf A, Sonmezler E, Lochmüller H, Horvath R, Oktay Y. Yiş U, et al. Among authors: diniz g. J Neuromuscul Dis. 2019;6(3):377-384. doi: 10.3233/JND-190383. J Neuromuscul Dis. 2019. PMID: 31227654 Free PMC article.

7

SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey.

Kose M, Canda E, Kagnici M, Aykut A, Adebali O, Durmaz A, Bircan A, Diniz G, Eraslan C, Kose E, Ünalp A, Yılmaz Ü, Ozyilmaz B, Özdemir TR, Atik T, Uçar SK, McFarland R, Taylor RW, Brown GK, Çoker M, Özkınay F. Kose M, et al. Among authors: diniz g. Mol Genet Metab Rep. 2020 Oct 23;25:100657. doi: 10.1016/j.ymgmr.2020.100657. eCollection 2020 Dec. Mol Genet Metab Rep. 2020. PMID: 33134083 Free PMC article.

8

Experiences in the molecular genetic and histopathological evaluation of calpainopathies.

Ozyilmaz B, Kirbiyik O, Ozdemir TR, Ozer OK, Kutbay YB, Erdogan KM, Guvenc MS, Arıkan Ş, Turk TS, Kale MY, Uludag IF, Baydan F, Sertpoyraz F, Gencpinar P, Diniz G. Ozyilmaz B, et al. Among authors: diniz g. Neurogenetics. 2022 Apr;23(2):103-114. doi: 10.1007/s10048-022-00687-4. Epub 2022 Feb 14. Neurogenetics. 2022. PMID: 35157181

9

Histopathological and genetic features of patients with limb girdle muscular dystrophy type 2C.

Dınız G, Hazan F, Yildirim HT, Unalp A, Polat M, Serdaroğlu G, Güzel O, Bağ O, Seçıl Y, Ozgönül F, Türe S, Akhan G, Tükün A. Dınız G, et al. Turk Patoloji Derg. 2014;30(2):111-7. doi: 10.5146/tjpath.2014.01239. Turk Patoloji Derg. 2014. PMID: 24638197 Free article.

10

Concomitant alpha- and gamma-sarcoglycan deficiencies in a Turkish boy with a novel deletion in the alpha-sarcoglycan gene.

Diniz G, Tosun Yildirim H, Gokben S, Serdaroglu G, Hazan F, Yararbas K, Tukun A. Diniz G, et al. Case Rep Genet. 2014;2014:248561. doi: 10.1155/2014/248561. Epub 2014 Jun 22. Case Rep Genet. 2014. PMID: 25050186 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

217 results

Search Page