Atli E - Search Results

1

A Child with 5q Deletion and Accompanying Chiari 1 Malformation.

Atli EI, Yalcintepe S, Atli E, Demir S, Gurkan H. Atli EI, et al. Among authors: atli e. Indian J Pediatr. 2020 Sep;87(9):766. doi: 10.1007/s12098-020-03451-4. Epub 2020 Jul 16. Indian J Pediatr. 2020. PMID: 32671639 No abstract available.

2

Tetrasomy 18p in a Twin Pregnancy with Diverse Expression in Both Fetuses.

Inan C, Sayın NC, Atlı E, Ulusal S, Erzincan S, Uzun I, Gurkan H, Varol FG. Inan C, et al. Among authors: atli e. Fetal Pediatr Pathol. 2016;35(5):339-343. doi: 10.1080/15513815.2016.1188870. Epub 2016 Jun 16. Fetal Pediatr Pathol. 2016. PMID: 27309155

3

A 9-year-old-girl with Phelan McDermid Syndrome, who had been diagnosed with an autism spectrum disorder.

Görker I, Gürkan H, Demir Ulusal S, Atlı E, Ikbal Atlı E. Görker I, et al. Among authors: atli e. Balkan J Med Genet. 2017 Mar 8;19(2):85-90. doi: 10.1515/bjmg-2016-0041. eCollection 2016 Dec 1. Balkan J Med Genet. 2017. PMID: 28289594 Free PMC article.

4

Genetic Analyses of the NF1 Gene in Turkish Neurofibromatosis Type I Patients and Definition of three Novel Variants.

Ulusal SD, Gürkan H, Atlı E, Özal SA, Çiftdemir M, Tozkır H, Karal Y, Güçlü H, Eker D, Görker I. Ulusal SD, et al. Among authors: atli e. Balkan J Med Genet. 2017 Jun 30;20(1):13-20. doi: 10.1515/bjmg-2017-0008. eCollection 2017 Jun 30. Balkan J Med Genet. 2017. PMID: 28924536 Free PMC article.

5

Identification of a novel homozygous TBC1D24 mutation in a Turkish family with DOORS syndrome.

Atli E, Gurkan H, Ulusal S, Karal Y, Atli EI, Tozkir H. Atli E, et al. Among authors: atli ei. Clin Dysmorphol. 2018 Jan;27(1):1-3. doi: 10.1097/MCD.0000000000000204. Clin Dysmorphol. 2018. PMID: 29176366 No abstract available.

6

Prenatal diagnosis of chromosomal polymorphisms: most commonly observed polymorphism on Chromosome 9 have associations with low PAPP-A values.

Inan C, Sayin NC, Dolgun ZN, Gurkan H, Erzincan SG, Uzun I, Sutcu H, Ates S, Atli E, Varol F. Inan C, et al. Among authors: atli e. J Matern Fetal Neonatal Med. 2019 May;32(10):1688-1695. doi: 10.1080/14767058.2017.1416079. Epub 2017 Dec 20. J Matern Fetal Neonatal Med. 2019. PMID: 29262756

7

A large posterior encephalocele associated with severe ventriculomegaly, cerebellar atrophy and transposition of the great arteries.

Inan C, Cenk Sayin N, Gurkan H, Erzincan SG, Uzun I, Sutcu H, Atli EI, Varol F. Inan C, et al. J Clin Ultrasound. 2018 Nov;46(9):588-590. doi: 10.1002/jcu.22625. Epub 2018 Aug 14. J Clin Ultrasound. 2018. PMID: 30105815

8

Deletion of macro domain containing 2(MACRO D2) associated with transient hydrops fetalis.

Uzun Çilingir I, Sayin NC, Gurkan H, Çiftdemir NA, Atlı E, İnan C, Erzincan S, Sutcu H, Vatansever U, Varol F. Uzun Çilingir I, et al. Among authors: atli e. Taiwan J Obstet Gynecol. 2018 Dec;57(6):897-898. doi: 10.1016/j.tjog.2018.10.023. Taiwan J Obstet Gynecol. 2018. PMID: 30545550 Free article. No abstract available.

9

FOXF2 is required for cochlear development in humans and mice.

Bademci G, Abad C, Incesulu A, Elian F, Reyahi A, Diaz-Horta O, Cengiz FB, Sineni CJ, Seyhan S, Atli EI, Basmak H, Demir S, Nik AM, Footz T, Guo S, Duman D, Fitoz S, Gurkan H, Blanton SH, Walter MA, Carlsson P, Walz K, Tekin M. Bademci G, et al. Hum Mol Genet. 2019 Apr 15;28(8):1286-1297. doi: 10.1093/hmg/ddy431. Hum Mol Genet. 2019. PMID: 30561639 Free PMC article.

10

De Novo Subtelomeric 6p25.3 Deletion with Duplication of 6q23.3-q27: Genotype-Phenotype Correlation.

Atli EI, Gurkan H, Atli E, Vatansever U, Acunas B, Mail C. Atli EI, et al. Among authors: atli e. J Pediatr Genet. 2020 Mar;9(1):32-39. doi: 10.1055/s-0039-1694703. Epub 2019 Aug 12. J Pediatr Genet. 2020. PMID: 31976141 Free PMC article.

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