Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Nurdan Ciftci"'
Publikováno v:
Medicine Science, Vol 11, Iss 4, Pp 1731-3 (2022)
Familial hypocalciuric hypercalcemia (FHH) is a benign disease associated with heterozygous inactivating mutations in the calcium-sensing receptor (CaSR) gene. This article presents a girl with heterozygous p.Cys575Tyr variation in the CaSR gene. The
Externí odkaz:
https://doaj.org/article/6afc545ffda94afa88bb8257f0092997
Publikováno v:
Clinical Endocrinology. 98:788-795
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::97a7263d4528ea27faee6e2c005684d3
https://doi.org/10.1111/cen.14906
https://doi.org/10.1111/cen.14906
Publikováno v:
Sexual Development.
Context: 17α-hydroxylase/17,20-lyase deficiency (17OHD) is characterized by decreased sex steroids and cortisol synthesis, as well as an increased mineralocorticoid effect. Aim: This study aimed to evaluate the clinical, biochemical, and molecular c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::391c21f2cc70899eaedcf81a1001019c
https://doi.org/10.1159/000529158
https://doi.org/10.1159/000529158
Autor:
Ismail Dundar, Nurdan Ciftci, Aysehan Akinci, Emine Camtosun, Leman Kayas, Ahmet Sigirci, Fatma Yagin
Publikováno v:
Medicine Science | International Medical Journal. 11:1184
There is a scarcity of data concerning endocrine function and the effects of enzyme replacement therapy (ERT) on growth and other endocrine functions in patients with mucopolysaccharidosis (MPS). This study retrospectively evaluated height increase,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9395fad828d97bb5c3418869840347db
https://doi.org/10.5455/medscience.2022.03.053
https://doi.org/10.5455/medscience.2022.03.053
Autor:
Sevgi Demiröz Taşolar, Ahmet Sığırcı, Nurdan Çiftçi, Aslınur Cengiz, Güleç Mert Doğan, Ayşehan Akıncı
Publikováno v:
İstanbul Medical Journal, Vol 24, Iss 3, Pp 346-350 (2023)
Introduction:Although more common in adults, autoimmune thyroiditis (AT) is one of the most common thyroid diseases in children and adolescents. Salivary gland involvement has been described in many studies of patients with AT. Several inflammatory s
Externí odkaz:
https://doaj.org/article/b517de393fea4980ba0c7c8384132214
Autor:
Nurdan Çiftci, Ayşehan Akıncı, Ekrem Akbulut, Emine Çamtosun, İsmail Dündar, Mustafa Doğan, Leman Kayaş
Publikováno v:
JCRPE, Vol 15, Iss 2, Pp 160-171 (2023)
INTRODUCTION: Idiopathic hypogonadotropic hypogonadism (IHH) is classified into two groups-Kalman syndrome and normosmic IHH (nIHH). Half of all cases can be explained by mutations in >50 genes. Targeted gene panel testing with nexrt generation seque
Externí odkaz:
https://doaj.org/article/8a258e2999784d2c9e03036484c25077
Autor:
Şenay Güven Baysal, Nurdan Çiftci, İsmail Dündar, Mehmet Akif Büyükavcı, Fatma Hilal Yağın, Emine Çamtosun, Derya Doğan, Ayşehan Akıncı
Publikováno v:
JCRPE, Vol 15, Iss 2, Pp 172-181 (2023)
INTRODUCTION: With the diagnosis of chronic illness in children, a stressful period is likely to begin for both the affected child and their families. The aim of this study was to investigate the factors affecting chronic disease management by the pa
Externí odkaz:
https://doaj.org/article/249bbeb0793d4150b254bdae9fb11b1a
Publikováno v:
JCRPE, Vol 15, Iss 2, Pp 225-229 (2023)
Variants of the melanocortin-4 receptor (MC4R) gene are the most common cause of monogenic obesity. It has been shown that, while obesity cannot be controlled with diet and exercise, glucagon-like-peptide-1 receptor agonists (GLP-1 RA) provide weight
Externí odkaz:
https://doaj.org/article/1eec7118741341a587aace35a21468b8
Autor:
Hilmi Demirin, Muhammet Ramazan Yigitoglu, Pinar Atukeren, Fatmanur Hacievliyagil Kazanci, Mustafa Saygin Deniz, Sümeyye Gök, Sefa Ciftci, Huseyin Tugrul Celik, Nurdan Ciftci, Yasemin Coşkun Yavuz
Background Familial Mediterranean Fever (FMF) is an autosomal recessive form of recurrent episodes of fever and an autoinflammatory disease characterized by inflammation of the serous membranes. The clinical diagnosis is supported by the laboratory f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::332b82898a61377e4a796eed494c36cc
https://europepmc.org/articles/PMC6807204/
https://europepmc.org/articles/PMC6807204/
Publikováno v:
JCRPE, Vol 14, Iss 2, Pp 233-238 (2022)
The enzyme 17-β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) catalyzes the biosynthesis of testosterone (T) from Δ4-androstenedione, and plays an important role in the final steps of androgen synthesis. 17β-HSD3 deficiency originates from mutat
Externí odkaz:
https://doaj.org/article/d1687b8456ca4afdbc979b0a4a9f70ce