Gizem Urel Demir
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Explore the profile of Gizem Urel Demir including associated specialties, affiliations and a list of published articles.
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15
Citations
14
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Recent Articles
1.
Tanrisever Turk M, Urel Demir G, Utine G, Yalcin B, Simsek-Kiper P
J Natl Med Assoc
. 2025 Feb;
PMID: 39947963
To date there have been multiple clinical reports of pediatric patients with Williams Beuren syndrome developing non-Hodgkin lymphoma. However, there is no clear evidence of an association between this microdeletion...
2.
Dasar T, Urel Demir G, Imren G, Utine G, Yilmaz G, Simsek Kiper P
Am J Med Genet A
. 2024 Dec;
197(4):e63950.
PMID: 39618316
Multiple epiphyseal dysplasia (MED) is a heterogeneous group of chondrodysplasia characterized by arthralgia, early onset osteoarthropathy, and the radiographic findings of small, flat, and irregular-shaped epiphyses. Some patients with MED...
3.
Sogukpinar M, Urel Demir G, Utine G, Gonc E, Ozon Z, Simsek-Kiper P
Eur J Pediatr
. 2024 Jul;
183(9):3831.
PMID: 39023646
No abstract available.
4.
Sogukpinar M, Urel Demir G, Utine G, Gonc E, Ozon Z, Simsek-Kiper P
Eur J Pediatr
. 2024 Jun;
183(9):3819-3829.
PMID: 38879704
Achondroplasia (ACH; MIM #100,800), caused by a heterozygous gain of function pathogenic variant in the fibroblast growth factor receptor 3 gene (FGFR3; MIM*134,934), is the most prevalent and most readily...
5.
Burgac E, Kaplan I, Koseci B, Kara E, Kor D, Bulut F, et al.
Am J Med Genet A
. 2024 Jan;
194(6):e63545.
PMID: 38264826
Mucolipidosis type-II (ML-II) is an ultra-rare disorder caused by deficiency of N-acetylglucosaminyl-1-phosphotransferase enzyme due to biallelic pathogenic variants in GNPTAB gene. There are a few known about the natural history...
6.
Buyukyilmaz G, Toksoy Adiguzel K, Aksoy O, Kasapkara C, Urel Demir G, Demir E, et al.
Turk J Pediatr
. 2024 Jan;
65(6):1025-1032.
PMID: 38204317
Background: Sphingosine phosphate lyase insufficiency syndrome (SPLIS) caused by inactivating mutations in the human SGPL1 gene results in congenital nephrotic syndrome, adrenal insufficiency, ichthyosis, immunodeficiency, and a wide range of...
7.
Demir E, Adim F, Dogen M, Aydogdu A, Yesil E, Mermer S, et al.
Pediatr Allergy Immunol Pulmonol
. 2023 Nov;
36(4):147-149.
PMID: 38010729
Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA) caused by biallelic mutations is a very rare syndrome with only 16 cases reported in the literature. Skeletal dysplasia, neurodevelopmental delay, immunodeficiency, liver, and...
8.
Aydogdu A, Urel Demir G
Tohoku J Exp Med
. 2023 Oct;
262(1):23-27.
PMID: 37793880
Hereditary angioedema is a rare, potentially life-threatening disease. There is a lack of data describing the clinical course of hereditary angioedema (HAE) in children. We aimed to evaluate the clinical...
9.
Akalin A, Ozsin C, Koc N, Urel Demir G, Alanay Y, Utine E, et al.
Eur J Med Genet
. 2023 Jan;
66(4):104708.
PMID: 36720430
Genetic skeletal disorders are clinically and genetically heterogeneous group of disorders that affect the normal development, growth, and maintenance of the human skeleton. Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type (SMED-SL/AC;...
10.
Kisla Ekinci R, Zararsiz A, Urel Demir G, Anlas O
Pediatr Allergy Immunol Pulmonol
. 2022 Sep;
35(3):129-132.
PMID: 36121781
Sideroblastic anemia with B cell immunodeficiency, periodic fevers, and developmental delay (SIFD) syndrome is caused by biallelic TRNT1 mutations. TRNT1 gene encodes a CCA-adding tRNA nucleotidyl transferase enzyme. Mutant TRNT1...