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Items: 17

1.

Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(C.1957-2A>C) Mutation in GLI2 Gene

Demiral M, Demirbilek H, Unal E, Durmaz CD, Ceylaner S, Ozbek MN.

J Clin Res Pediatr Endocrinol. 2019 Nov 29. doi: 10.4274/jcrpe.galenos.2019.2019.0142. [Epub ahead of print]

2.

Primary Hypertrophic Osteoarthropathy Mimicking Juvenile Idiopathic Arthritis: A Novel SLCO2A1 Mutation and Imaging Findings.

Torgutalp M, Durmaz CD, Karabulut HG, Seifert W, Horn D, Akkaya Z, Turgay M.

Cytogenet Genome Res. 2019;158(3):126-132. doi: 10.1159/000500988. Epub 2019 Jun 15.

PMID:
31203270
3.

Association of pyrin mutations and autoinflammation with complex phenotype hidradenitis suppurativa: a case-control study.

Vural S, Gündoğdu M, Gökpınar İli E, Durmaz CD, Vural A, Steinmüller-Magin L, Kleinhempel A, Holdt LM, Ruzicka T, Giehl KA, Ruhi HI, Boyvat A.

Br J Dermatol. 2019 Jun;180(6):1459-1467. doi: 10.1111/bjd.17466. Epub 2019 Feb 20.

PMID:
30488432
4.

Autosomal Recessive Oculodentodigital Dysplasia: A Case Report and Review of the Literature.

Taşdelen E, Durmaz CD, Karabulut HG.

Cytogenet Genome Res. 2018;154(4):181-186. doi: 10.1159/000489000. Epub 2018 Jun 15. Review.

5.

Can the number of eosinophils in adenoid and tonsil tissue determine the allergy in children?

Ekici NY, Görgülü O, Yucel G, Külahcı Ö, Arıkan OK, Durmaz C.

Int J Pediatr Otorhinolaryngol. 2018 May;108:35-39. doi: 10.1016/j.ijporl.2018.02.008. Epub 2018 Feb 7.

PMID:
29605362
6.

A Novel PTCH1 Frameshift Mutation Leading to Nevoid Basal Cell Carcinoma Syndrome.

Durmaz CD, Evans G, Smith MJ, Ertop P, Akay BN, Tuncalı T.

Cytogenet Genome Res. 2018;154(2):57-61. doi: 10.1159/000487747. Epub 2018 Mar 16.

PMID:
29544218
7.

A Novel PORCN Frameshift Mutation Leading to Focal Dermal Hypoplasia: A Case Report.

Durmaz CD, McGrath J, Liu L, Karabulut HG.

Cytogenet Genome Res. 2018;154(3):119-121. doi: 10.1159/000487580. Epub 2018 Mar 10.

PMID:
29525789
8.

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.

White JJ, Mazzeu JF, Coban-Akdemir Z, Bayram Y, Bahrambeigi V, Hoischen A, van Bon BWM, Gezdirici A, Gulec EY, Ramond F, Touraine R, Thevenon J, Shinawi M, Beaver E, Heeley J, Hoover-Fong J, Durmaz CD, Karabulut HG, Marzioglu-Ozdemir E, Cayir A, Duz MB, Seven M, Price S, Ferreira BM, Vianna-Morgante AM, Ellard S, Parrish A, Stals K, Flores-Daboub J, Jhangiani SN, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics, Brunner HG, Sutton VR, Lupski JR, Carvalho CMB.

Am J Hum Genet. 2018 Jan 4;102(1):27-43. doi: 10.1016/j.ajhg.2017.10.002. Epub 2017 Dec 21.

9.

Skin-Dominant Phenotype in a Patient with H Syndrome: Identification of a Novel Mutation in the SLC29A3 Gene.

Vural S, Ertop P, Durmaz CD, Şanlı H, Okçu Heper A, Kundakçı N, Karabulut HG, Ilgın Ruhi H.

Cytogenet Genome Res. 2017;151(4):186-190. doi: 10.1159/000475908. Epub 2017 May 30.

PMID:
28554179
10.

Bilateral choanal atresia in an adult woman with pycnodysostosis.

Durmaz CD, Taş V, Kocaay P, Fitöz ÖS, Onay H, Beton S, Özkınay F, Ilgın Ruhi H.

Congenit Anom (Kyoto). 2017 May;57(3):91-92. doi: 10.1111/cga.12204. No abstract available.

PMID:
27933642
11.

Unusual Chromosomal Rearrangement Resulted in Interstitial Monosomy 9p: Case Report.

Durmaz CD, Yararbaş K, Kutlay NY, Türedi Ö, Akın İ, Gürbüz C, Karataş G, Tükün A.

Cytogenet Genome Res. 2016;148(1):19-24. doi: 10.1159/000444872. Epub 2016 May 11.

PMID:
27166162
12.

Alternative surgical management of oroantral fistula using auricular cartilage.

Ozkan A, Durmaz CE.

J Clin Exp Dent. 2015 Apr 1;7(2):e339-41. doi: 10.4317/jced.51742. eCollection 2015 Apr.

13.

The assessment and management of chronic cough in children according to the British Thoracic Society guidelines: descriptive, prospective, clinical trial.

Usta Guc B, Asilsoy S, Durmaz C.

Clin Respir J. 2014 Jul;8(3):330-7. doi: 10.1111/crj.12076. Epub 2014 Feb 10.

PMID:
24279754
14.
15.

Use of dental implants to retain finger prostheses: a case report.

Ozkan A, Senel B, Durmaz CE, Uyar HA, Evinc R.

Oral Health Dent Manag. 2012 Mar;11(1):11-5.

PMID:
22488027
16.

Should we routinely perform blood tests in children with uncontrolled seizures?

Durmaz C, Tulgar Kinik S, Ozyürek E, Erol I, Canan O, Alehan F.

J Child Neurol. 2006 Oct;21(10):896-8.

PMID:
17005109
17.

A case of achondroplasia with severe pulmonary hypertension due to obstructive sleep apnea.

Yildirim SV, Durmaz C, Pourbagher MA, Erkan AN.

Eur Arch Otorhinolaryngol. 2006 Aug;263(8):775-7. Epub 2006 May 3.

PMID:
16670917

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