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Birgul Kirel

Explore the profile of Birgul Kirel including associated specialties, affiliations and a list of published articles. Areas
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Articles 26
Citations 179
Followers 0
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Recent Articles
11.
Siklar Z, Turan S, Bereket A, Bas F, Guran T, Akberzade A, et al.
J Clin Res Pediatr Endocrinol . 2019 Sep; 12(2):150-159. PMID: 31514490
Objective: Hypophosphatemic rickets (HR) is a rare renal phosphate-wasting disorder, which is usually X-linked and is commonly caused by PHEX mutations. The treatment and follow-up of HR is challenging due...
12.
Sahiner N, Turkmen A, Acikgoz A, Simsek E, Kirel B
Worldviews Evid Based Nurs . 2018 Oct; 15(6):464-470. PMID: 30307692
Background: Repeated injections may prevent children from performing insulin administration (skip dosing) and may cause anxiety. Aims: To compare the effect of ShotBlocker and the combination of vibration and cold...
13.
Ozdemir Z, Kar Y, Demiral M, Sirmagul B, Bor O, Kirel B
J Adolesc Young Adult Oncol . 2018 Apr; 7(4):480-487. PMID: 29641359
Purpose: Metabolic syndrome (MetS) and obesity have increasingly been reported in survivors of childhood cancer. Osteopontin (OPN) is primarily synthesized in adipose tissue and is thought to have a role...
14.
Kirel B, Bozdag O, Kosger P, Aydogdu S, Alincak E, Tekin N
Turk Pediatri Ars . 2018 Feb; 52(4):226-230. PMID: 29483803
Donohue syndrome (Leprechaunism) is characterized by severe insulin resistance, hyperinsulinemia, postprandial hyperglycemia, preprandial hypoglycemia, intrauterine and postnatal growth retardation, dysmorphic findings, and clinical and laboratory findings of hyperandrogenemia due to...
15.
Aykut A, Karaca E, Onay H, Goksen D, Cetinkalp S, Eren E, et al.
Gene . 2017 Oct; 641:186-189. PMID: 29056535
Maturity onset diabetes is a genetic form of diabetes mellitus characterized by an early age at onset and several etiologic genes for this form of diabetes have been identified in...
16.
Kirel B, Demiral M, Bozdag O, Karaer K
Turk J Pediatr . 2016 Dec; 58(1):101-105. PMID: 27922245
Pseudohypoparathyroidism (PHP) type Ia is characterized by multiple hormone resistance; primarily parathyroid hormone (PTH) resistance and Albright's hereditary osteodystrophy (AHO) which involves skeletal and developmental defects. The AHO phenotype alone...
17.
Simsek E, Demiral M, Ceylaner S, Kirel B
Horm Res Paediatr . 2016 Nov; 87(6):405-411. PMID: 27798941
Background: Little is known about the genetic causes responsible for idiopathic central precocious puberty (iCPP). More recently, described loss-of-function mutations in the makorin ring finger protein 3 (MKRN3) gene have...
18.
Sansbury F, Kirel B, Caswell R, Lango Allen H, Flanagan S, Hattersley A, et al.
Eur J Hum Genet . 2015 Nov; 23(12):1750. PMID: 26559129
No abstract available.
19.
Sansbury F, Kirel B, Caswell R, Lango Allen H, Flanagan S, Hattersley A, et al.
Eur J Hum Genet . 2015 Aug; 23(12):1744-8. PMID: 26264437
Neonatal diabetes is a highly genetically heterogeneous disorder. There are over 20 distinct syndromic and non-syndromic forms, including dominant, recessive and X-linked subtypes. Biallelic truncating or mis-sense mutations in the...
20.
Welzel M, Akin L, Buscher A, Guran T, Hauffa B, Hogler W, et al.
Eur J Endocrinol . 2013 Feb; 168(5):707-15. PMID: 23416952
Background: Pseudohypoaldosteronism type 1 (PHA1) is a monogenic disease caused by mutations in the genes encoding the human mineralocorticoid receptor (MR) or the α (SCNN1A), β (SCNN1B) or γ (SCNN1G)...