Tolun A - Search Results

1

CRADD and USP44 mutations in intellectual disability, mild lissencephaly, brain atrophy, developmental delay, strabismus, behavioural problems and skeletal anomalies.

Koprulu M, Shabbir RMK, Zaman Q, Nalbant G, Malik S, Tolun A. Koprulu M, et al. Among authors: tolun a. Eur J Med Genet. 2021 Apr;64(4):104181. doi: 10.1016/j.ejmg.2021.104181. Epub 2021 Feb 27. Eur J Med Genet. 2021. PMID: 33647455

2

RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly.

Mumtaz S, Yıldız E, Jabeen S, Khan A, Tolun A, Malik S. Mumtaz S, et al. Among authors: tolun a. Am J Med Genet A. 2015 Dec;167A(12):3148-52. doi: 10.1002/ajmg.a.37299. Epub 2015 Sep 3. Am J Med Genet A. 2015. PMID: 26333564

3

FAM160B1 deficit associated with microcephaly, severe intellectual disability, ataxia, behavioral abnormalities and speech problems.

Mavioğlu RN, Kara B, Akansel G, Nalbant G, Tolun A. Mavioğlu RN, et al. Among authors: tolun a. Clin Genet. 2019 Nov;96(5):456-460. doi: 10.1111/cge.13612. Epub 2019 Aug 6. Clin Genet. 2019. PMID: 31353455

4

Homozygous deletion of MYADML2 in cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles.

Yıldız Bölükbaşı E, Shabbir RMK, Malik S, Tolun A. Yıldız Bölükbaşı E, et al. Among authors: tolun a. J Hum Genet. 2021 Feb;66(2):171-179. doi: 10.1038/s10038-020-0817-8. Epub 2020 Aug 10. J Hum Genet. 2021. PMID: 32778762

5

A homozygous ROR2 variant in a family with atypical Robinow syndrome and tetramelic transverse deficiency of autopods.

Malik S, Nalbant G, Noreen M, Afzal M, Tolun A. Malik S, et al. Among authors: tolun a. Am J Med Genet A. 2022 Jan;188(1):343-349. doi: 10.1002/ajmg.a.62514. Epub 2021 Sep 27. Am J Med Genet A. 2022. PMID: 34569147

6

KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies.

Koprulu M, Naeem M, Nalbant G, Shabbir RMK, Mahmood T, Huma Z, Malik S, Tolun A. Koprulu M, et al. Among authors: tolun a. Eur J Hum Genet. 2022 Nov;30(11):1292-1296. doi: 10.1038/s41431-022-01128-4. Epub 2022 Jun 9. Eur J Hum Genet. 2022. PMID: 35676340 Free PMC article.

7

Homozygous CHST11 mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly.

Shabbir RMK, Nalbant G, Ahmad N, Malik S, Tolun A. Shabbir RMK, et al. Among authors: tolun a. J Med Genet. 2018 Jul;55(7):489-496. doi: 10.1136/jmedgenet-2017-105003. Epub 2018 Mar 7. J Med Genet. 2018. PMID: 29514872

8

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: tolun a. 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

9

Complex postaxial polydactyly types A and B with camptodactyly, hypoplastic third toe, zygodactyly and other digit anomalies caused by a novel GLI3 mutation.

Mumtaz S, Yıldız E, Lal K, Tolun A, Malik S. Mumtaz S, et al. Among authors: tolun a. Eur J Med Genet. 2017 May;60(5):268-274. doi: 10.1016/j.ejmg.2017.03.004. Epub 2017 Mar 14. Eur J Med Genet. 2017. PMID: 28315472

10

Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain.

Yıldız Bölükbaşı E, Afzal M, Mumtaz S, Ahmad N, Malik S, Tolun A. Yıldız Bölükbaşı E, et al. Among authors: tolun a. Am J Med Genet A. 2017 Sep;173(9):2494-2499. doi: 10.1002/ajmg.a.38332. Epub 2017 Jun 21. Am J Med Genet A. 2017. PMID: 28636205

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