Akalın A - Search Results

1

Spondyloepimetaphyseal dysplasia EXTL3-deficient type: Long-term follow-up and review of the literature.

Akalın A, Taskiran EZ, Şimşek-Kiper PÖ, Utine E, Alanay Y, Özçelik U, Boduroğlu K. Akalın A, et al. Am J Med Genet A. 2021 Oct;185(10):3104-3110. doi: 10.1002/ajmg.a.62378. Epub 2021 Jun 4. Am J Med Genet A. 2021. PMID: 34089299

2

Main Physical Features, Echocardiographic and Renal Ultrasonographic Findings of Turner Syndrome in 107 Pediatric Patients.

Akalın A, Ertuğrul İ, Şimşek-Kiper PÖ, Utine GE, Boduroğlu K. Akalın A, et al. Mol Syndromol. 2021 Oct;12(6):335-341. doi: 10.1159/000516816. Epub 2021 Aug 12. Mol Syndromol. 2021. PMID: 34899142 Free PMC article.

3

A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features.

Akalın A, Şimşek-Kiper PÖ, Taşkıran EZ, Karaosmanoğlu B, Utine GE, Boduroğlu K. Akalın A, et al. Am J Med Genet A. 2023 Apr;191(4):1119-1127. doi: 10.1002/ajmg.a.63120. Epub 2023 Jan 11. Am J Med Genet A. 2023. PMID: 36630262

4

Typical Face, Developmental Delay, and Hearing Loss in a Patient with 3M Syndrome: The Co-Occurrence of Two Rare Conditions.

Akalın A, Şimşek-Kiper PÖ, Taşkıran E, Utine GE, Boduroğlu K. Akalın A, et al. Mol Syndromol. 2023 Jan;13(6):537-542. doi: 10.1159/000524703. Epub 2022 May 18. Mol Syndromol. 2023. PMID: 36660029 Free PMC article.

5

Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand abnormal calcification type: Further expanding the mutational spectrum and dental findings of three new patients.

Akalın A, Özşin C, Koç N, Demir GÜ, Alanay Y, Utine E, Boduroğlu K, Tekçiçek M, Şimşek-Kiper PÖ. Akalın A, et al. Eur J Med Genet. 2023 Apr;66(4):104708. doi: 10.1016/j.ejmg.2023.104708. Epub 2023 Jan 30. Eur J Med Genet. 2023. PMID: 36720430

6

A Long-Term Follow-Up of a Patient with a Novel PORCN Variant and Additional Clinical Features.

Akalın A, Grzeschik KH, Utine E, Boduroğlu K, Şimşek-Kiper PÖ. Akalın A, et al. Mol Syndromol. 2024 Jun;15(3):217-224. doi: 10.1159/000535681. Epub 2024 Jan 4. Mol Syndromol. 2024. PMID: 38841326 Free PMC article.

7

Further defining the molecular spectrum and long-term follow-up of 17 patients with Dyggve-Melchior-Clausen and Smith-McCort dysplasia type 2.

Akalın A, Ayaz E, Soğukpınar M, Avcı-Durmuşalioğlu E, Ürel-Demir G, Yıldız AE, Atik T, Elcioglu NH, Eda Utine G, Şimşek-Kiper PÖ. Akalın A, et al. Am J Med Genet A. 2024 Oct;194(10):e63785. doi: 10.1002/ajmg.a.63785. Epub 2024 Jun 11. Am J Med Genet A. 2024. PMID: 38860472

8

Clinical and molecular spectrum along with genotype-phenotype correlation of 25 patients diagnosed with 3 M syndrome: a study from Turkey.

Akalın A, Özalkak Ş, Yıldırım R, Karakaya AA, Kolbaşı B, Durmuşalioğlu EA, Kökali F, Ürel-Demir G, Öz V, Ünal E, Atik T, Şimşek-Kiper PÖ, Elcioglu NH. Akalın A, et al. Eur J Pediatr. 2024 Dec 7;184(1):68. doi: 10.1007/s00431-024-05855-2. Eur J Pediatr. 2024. PMID: 39643721

9

Efficacy of flecainide in bidirectional ventricular tachycardia and tachycardia-induced cardiomyopathy with Andersen-Tawil syndrome.

Ünal Yüksekgönül A, Azak E, Akalın A, Ertuğrul İ, Kılıç E, Utine GE, Karagöz T. Ünal Yüksekgönül A, et al. Among authors: akalin a. Eur J Med Genet. 2022 Jun;65(6):104499. doi: 10.1016/j.ejmg.2022.104499. Epub 2022 Apr 14. Eur J Med Genet. 2022. PMID: 35429663

10

Assessing the Menstrual Cycle and Related Problems in Adolescents with a Genetic Syndrome Associated with Intellectual Disability.

Çınar HÜ, Kızılkan MP, Akalın A, Kiper PÖŞ, Utine GE, Derman O, Kanbur N, Akgül S. Çınar HÜ, et al. Among authors: akalin a. J Pediatr Adolesc Gynecol. 2023 Aug;36(4):363-371. doi: 10.1016/j.jpag.2023.02.005. Epub 2023 Mar 6. J Pediatr Adolesc Gynecol. 2023. PMID: 36889454

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