Pelin Ozlem Simsek-Kiper
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Explore the profile of Pelin Ozlem Simsek-Kiper including associated specialties, affiliations and a list of published articles.
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69
Citations
441
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Recent Articles
1.
Jumayeva G, Sogukpinar M, Karaosmanoglu B, Urel-Demir G, Gocmen R, Utine G, et al.
Cleft Palate Craniofac J
. 2025 Feb;
:10556656251319644.
PMID: 39967053
We report a case of multiple suture craniosynostosis in a patient with hypochondroplasia. The patient presented with short stature marked by a relatively long trunk and short extremities. The clinical...
2.
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...
3.
Imren G, Karaosmanoglu B, Muratoglu B, Ozdemir C, Utine G, Simsek-Kiper P, et al.
Int J Mol Sci
. 2025 Feb;
26(3).
PMID: 39940902
Skeletal dysplasias, characterized by bone, cartilage, and connective tissue abnormalities, often arise due to disruptions in extracellular matrix (ECM) dynamics and growth factor-dependent signaling pathways. RSPRY1, a secreted protein with...
4.
Dasar T, Aypar E, Utine G, Simsek-Kiper P
Mol Syndromol
. 2025 Feb;
16(1):49-54.
PMID: 39911177
Introduction: Opsismodysplasia is a rare autosomal recessive genetic skeletal disorder characterized by short stature, short limbs, small hands and feet, delayed bone age, severe platyspondyly, metaphyseal cupping, and facial dysmorphism....
5.
Akalin A, Ozalkak S, Yildirim R, Aktar Karakaya A, Kolbasi B, Durmusalioglu E, et al.
Eur J Pediatr
. 2024 Dec;
184(1):68.
PMID: 39643721
Conclusion: To date, genotype-phenotype correlations have been identified in a limited number of studies. Further research involving larger cohorts is necessary to solidify these correlations. What Is Known: • 3M...
6.
Sogukpinar M, Karaosmanoglu B, Utine G, Boduroglu K, Simsek-Kiper P
Mol Syndromol
. 2024 Aug;
15(4):347-354.
PMID: 39129839
Introduction: Primrose syndrome (PS; MIM #259050) is a rare autosomal dominant genetic condition characterized by macrocephaly with or without tall stature, hypotonia, moderate to severe intellectual disability (ID) with delay...
7.
Urel-Demir G, Baser B, Gocmen R, Simsek-Kiper P, Utine G, Haliloglu G
Mol Syndromol
. 2024 Aug;
15(4):275-283.
PMID: 39119454
Introduction: Diencephalic-mesencephalic junction dysplasia syndrome is a rare neurogenetic disorder reported to be caused by variants in several genes. Phenotypic presentation is characterized by clinical findings including developmental delay, hypotonia,...
8.
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.
9.
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...
10.
Akalin A, Ayaz E, Sogukpinar M, Avci-Durmusalioglu E, Urel-Demir G, Yildiz A, et al.
Am J Med Genet A
. 2024 Jun;
194(10):e63785.
PMID: 38860472
Dyggve-Melchior-Clausen dysplasia (DMC) and Smith-McCort dysplasia (SMC types 1 and 2) are rare spondylo-epi-metaphyseal dysplasias with identical radiological and clinical findings. DMC and SMC type 1 are allelic disorders caused...