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Year Number of Results
2017 2
2018 1
2020 2
2021 2
2022 6
2023 1
2024 0

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11 results

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Page 1
Mutation in protein disulfide isomerase A3 causes neurodevelopmental defects by disturbing endoplasmic reticulum proteostasis.
Bilches Medinas D, Malik S, Yıldız-Bölükbaşı E, Borgonovo J, Saaranen MJ, Urra H, Pulgar E, Afzal M, Contreras D, Wright MT, Bodaleo F, Quiroz G, Rozas P, Mumtaz S, Díaz R, Rozas C, Cabral-Miranda F, Piña R, Valenzuela V, Uyan O, Reardon C, Woehlbier U, Brown RH, Sena-Esteves M, Gonzalez-Billault C, Morales B, Plate L, Ruddock LW, Concha ML, Hetz C, Tolun A. Bilches Medinas D, et al. Among authors: yildiz bolukbasi e. EMBO J. 2022 Dec 17;41(2):e105531. doi: 10.15252/embj.2020105531. Epub 2021 Dec 14. EMBO J. 2022. PMID: 34904718 Free PMC article.
Ultra-conserved non-coding sequences within the FOXF1 enhancer are critical for human lung development.
Szafranski P, Majewski T, Yıldız Bölükbaşı E, Gambin T, Karolak JA, Cortes-Santiago N, Bruckner M, Amann G, Weis D, Stankiewicz P. Szafranski P, et al. Among authors: yildiz bolukbasi e. Genes Dis. 2022 May 18;9(6):1423-1426. doi: 10.1016/j.gendis.2022.05.002. eCollection 2022 Nov. Genes Dis. 2022. PMID: 36157490 Free PMC article. No abstract available.
High-level gonosomal mosaicism for a pathogenic non-coding CNV deletion of the lung-specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV.
Yıldız Bölükbaşı E, Karolak JA, Szafranski P, Gambin T, Willard N, Abman SH, Galambos C, Kinsella JP, Stankiewicz P. Yıldız Bölükbaşı E, et al. Mol Genet Genomic Med. 2022 Nov;10(11):e2062. doi: 10.1002/mgg3.2062. Epub 2022 Sep 20. Mol Genet Genomic Med. 2022. PMID: 36124617 Free PMC article.
Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic SNV in a lung-specific enhancer in trans to the frameshifting TBX4 variant.
Yıldız Bölükbaşı E, Karolak JA, Szafranski P, Gambin T, Murik O, Zeevi DA, Altarescu G, Stankiewicz P. Yıldız Bölükbaşı E, et al. Am J Med Genet A. 2022 May;188(5):1420-1425. doi: 10.1002/ajmg.a.62656. Epub 2022 Jan 25. Am J Med Genet A. 2022. PMID: 35075769 Free PMC article.
Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variant.
Yıldız Bölükbaşı E, Karolak JA, Szafranski P, Gambin T, Matsika A, McManus S, Scott HS, Arts P, Ha T, Barnett CP, Rodgers J, Stankiewicz P. Yıldız Bölükbaşı E, et al. Eur J Hum Genet. 2022 Oct;30(10):1182-1186. doi: 10.1038/s41431-022-01159-x. Epub 2022 Jul 28. Eur J Hum Genet. 2022. PMID: 35902696 Free PMC article.
Novel EDAR mutation in tooth agenesis and variable associated features.
Mumtaz S, Nalbant G, Yıldız Bölükbaşı E, Huma Z, Ahmad N, Tolun A, Malik S. Mumtaz S, et al. Among authors: yildiz bolukbasi e. Eur J Med Genet. 2020 Sep;63(9):103926. doi: 10.1016/j.ejmg.2020.103926. Epub 2020 Apr 20. Eur J Med Genet. 2020. PMID: 32325225
Homozygous Mutations in Thyroid Peroxidase (TPO) in Hypothyroidism with Intellectual Disability, Developmental Delay, and Hearing and Ocular Anomalies in Two Families: Severe Manifestation of Untreated TPO-deficiency Poses a Diagnostic Dilemma.
Naqvi SF, Yıldız-Bölükbaşı E, Afzal M, Nalbant G, Mumtaz S, Tolun A, Malik S. Naqvi SF, et al. Among authors: yildiz bolukbasi e. Yale J Biol Med. 2023 Sep 29;96(3):347-365. doi: 10.59249/SSRG6507. eCollection 2023 Sep. Yale J Biol Med. 2023. PMID: 37780999 Free PMC article.
11 results