Nursel H Elcioglu
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Explore the profile of Nursel H Elcioglu including associated specialties, affiliations and a list of published articles.
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49
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880
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Recent Articles
1.
Gunes N, Alkaya D, Kurugoglu S, Ozyalvac N, Bursali A, Elcioglu N, et al.
Pediatr Radiol
. 2025 Jan;
55(3):505-519.
PMID: 39825918
Background: Heterozygous TRPV4 mutations cause a group of skeletal dysplasias characterized by short stature, short trunk, and skeletal deformities. Objective: The aim of this study is to compare the natural...
2.
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...
3.
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...
4.
Noyan B, Elcioglu N, Tebani A, Bekri S
Mol Syndromol
. 2024 Jun;
15(3):194-201.
PMID: 38841321
Introduction: Sanfilippo syndrome or mucopolysaccharidosis type 3 (MPS-3) is a rare condition and its epidemiological data are still not defined. MPS-3 is linked to a deficiency in enzymes involved in...
5.
Martin C, Sarlos K, Logan C, Thakur R, Parry D, Bizard A, et al.
Am J Hum Genet
. 2024 May;
111(5):996.
PMID: 38701747
No abstract available.
6.
Du H, Dardas Z, Jolly A, Grochowski C, Jhangiani S, Li H, et al.
Nucleic Acids Res
. 2023 Dec;
52(4):e18.
PMID: 38153174
Homozygous duplications contribute to genetic disease by altering gene dosage or disrupting gene regulation and can be more deleterious to organismal biology than heterozygous duplications. Intragenic exonic duplications can result...
7.
Yilmaz-Gumus E, Elcioglu N, Genc E, Arici S, Ozturk G, Yapici O, et al.
J Pediatr Endocrinol Metab
. 2023 Jun;
36(10):983-987.
PMID: 37381587
Objectives: TANGO2 deficiency is a rare inborn error of metabolism, with distinct clinical features. The clinical presentations of TANGO2 deficiency are developmental delay, speech difficulties, intellectual disability, non-life-threatening paroxysmal neurologic...
8.
Panagiotou E, Fernandez-Fuentes N, Farraj L, McKibbin M, Elcioglu N, Jafri H, et al.
Mol Vis
. 2022 Jun;
28:57-69.
PMID: 35693420
Purpose: To investigate the molecular basis of recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia in two consanguineous families. Methods: Conventional autozygosity mapping was...
9.
Gonenc I, Elcioglu N, Martinez Grijalva C, Aras S, Grossmann N, Praulich I, et al.
Clin Genet
. 2022 Feb;
101(5-6):559-564.
PMID: 35218564
Bloom syndrome (BS) is an autosomal recessive disorder with characteristic clinical features of primary microcephaly, growth deficiency, cancer predisposition, and immunodeficiency. Here, we report the clinical and molecular findings of...
10.
Khuller K, Yigit G, Martinez Grijalva C, Altmuller J, Thiele H, Nurnberg P, et al.
Eur J Med Genet
. 2021 Aug;
64(10):104310.
PMID: 34400370
MFSD2A, a member of the major facilitator superfamily (MFS), is a transmembrane transporter responsible for the uptake of specific essential fatty acids through the blood-brain barrier (BBB) to the brain....