Perçin F - Search Results

1

TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.

Alanay Y, Ergüner B, Utine E, Haçariz O, Kiper PO, Taşkıran EZ, Perçin F, Uz E, Sağiroğlu MŞ, Yuksel B, Boduroglu K, Akarsu NA. Alanay Y, et al. Among authors: percin f. Am J Med Genet A. 2014 Feb;164A(2):291-304. doi: 10.1002/ajmg.a.36248. Epub 2013 Nov 5. Am J Med Genet A. 2014. PMID: 24194475 Review.

2

Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3.

Malik S, Percin FE, Ahmad W, Percin S, Akarsu NA, Koch MC, Grzeschik KH. Malik S, et al. Am J Med Genet A. 2005 May 1;134(4):404-8. doi: 10.1002/ajmg.a.30656. Am J Med Genet A. 2005. PMID: 15779011

3

Chromosomal-array analysis reveals partial 11q duplication and partial 12p deletion in a mildly affected case.

Tuğ E, Yirmibeş Karaoğuz M, Kayhan G, Ergün MA, Perçin FE. Tuğ E, et al. Am J Med Genet A. 2014 Jul;164A(7):1770-6. doi: 10.1002/ajmg.a.36495. Epub 2014 Mar 26. Am J Med Genet A. 2014. PMID: 24677787 Review.

4

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.

Hussain MS, Battaglia A, Szczepanski S, Kaygusuz E, Toliat MR, Sakakibara S, Altmüller J, Thiele H, Nürnberg G, Moosa S, Yigit G, Beleggia F, Tinschert S, Clayton-Smith J, Vasudevan P, Urquhart JE, Donnai D, Fryer A, Percin F, Brancati F, Dobbie A, Smigiel R, Gillessen-Kaesbach G, Wollnik B, Noegel AA, Newman WG, Nürnberg P. Hussain MS, et al. Among authors: percin f. Am J Hum Genet. 2014 Nov 6;95(5):622-32. doi: 10.1016/j.ajhg.2014.10.008. Epub 2014 Nov 6. Am J Hum Genet. 2014. PMID: 25439729 Free PMC article.

5

Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type.

Malik S, Percin FE, Bornholdt D, Albrecht B, Percesepe A, Koch MC, Landi A, Fritz B, Khan R, Mumtaz S, Akarsu NA, Grzeschik KH. Malik S, et al. Am J Hum Genet. 2014 Dec 4;95(6):649-59. doi: 10.1016/j.ajhg.2014.10.012. Epub 2014 Nov 13. Am J Hum Genet. 2014. PMID: 25466284 Free PMC article.

6

An eight-case 1q21 region series: novel aberrations and clinical variability with new features.

Ceylan AC, Sahin I, Erdem HB, Kayhan G, Simsek-Kiper PO, Utine GE, Percin F, Boduroglu K, Alikasifoglu M. Ceylan AC, et al. Among authors: percin f. J Intellect Disabil Res. 2019 Jun;63(6):548-557. doi: 10.1111/jir.12592. Epub 2019 Feb 18. J Intellect Disabil Res. 2019. PMID: 30773728

7

A de novo heterozygous HOXA11 variant in a patient with mesomelic dysplasia with urogenital abnormalities.

Sezer A, Perçin FE, Kazan HH, Kayhan G, Akturk M. Sezer A, et al. Among authors: percin fe. Am J Med Genet A. 2022 Jun;188(6):1890-1895. doi: 10.1002/ajmg.a.62713. Epub 2022 Mar 6. Am J Med Genet A. 2022. PMID: 35253374

8

A case with a ring chromosome 22.

Koç A, Karaer K, Ergün MA, Yirmibeş-Karaoğuz M, Kan D, Cansu A, Perçin F. Koç A, et al. Among authors: percin f. Turk J Pediatr. 2008 Mar-Apr;50(2):193-6. Turk J Pediatr. 2008. PMID: 18664089

9

A patient with 9q subtelomeric deletion syndrome with additional findings.

Tug E, Cavdarli B, Karaoguz MY, Percin FE. Tug E, et al. Among authors: percin fe. Genet Couns. 2012;23(4):465-71. Genet Couns. 2012. PMID: 23431745

10

Genome-wide association and whole exome sequencing studies reveal a novel candidate locus for restless legs syndrome.

Ergun U, Say B, Ergun SG, Percin FE, Inan L, Kaygisiz S, Asal PG, Yurteri B, Struchalin M, Shtokalo D, Ergun MA. Ergun U, et al. Eur J Med Genet. 2021 Apr;64(4):104186. doi: 10.1016/j.ejmg.2021.104186. Epub 2021 Mar 2. Eur J Med Genet. 2021. PMID: 33662638

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

53 results

Search Page

Filters