Mihci E - Search Results

1

Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia.

Hellemans J, Simon M, Dheedene A, Alanay Y, Mihci E, Rifai L, Sefiani A, van Bever Y, Meradji M, Superti-Furga A, Mortier G. Hellemans J, et al. Among authors: mihci e. Am J Hum Genet. 2009 Dec;85(6):916-22. doi: 10.1016/j.ajhg.2009.11.005. Am J Hum Genet. 2009. PMID: 20004766 Free PMC article.

2

Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia.

Simon M, Campos-Xavier AB, Mittaz-Crettol L, Valadares ER, Carvalho D, Speck-Martins CE, Nampoothiri S, Alanay Y, Mihci E, van Bever Y, Garcia-Segarra N, Cavalcanti D, Mortier G, Bonafé L, Superti-Furga A. Simon M, et al. Among authors: mihci e. Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):230-7. doi: 10.1002/ajmg.c.31339. Epub 2012 Jul 12. Am J Med Genet C Semin Med Genet. 2012. PMID: 22791571

3

Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases.

Ranza E, Huber C, Levin N, Baujat G, Bole-Feysot C, Nitschke P, Masson C, Alanay Y, Al-Gazali L, Bitoun P, Boute O, Campeau P, Coubes C, McEntagart M, Elcioglu N, Faivre L, Gezdirici A, Johnson D, Mihci E, Nur BG, Perrin L, Quelin C, Terhal P, Tuysuz B, Cormier-Daire V. Ranza E, et al. Among authors: mihci e. Clin Genet. 2017 Jun;91(6):868-880. doi: 10.1111/cge.12885. Epub 2017 Feb 23. Clin Genet. 2017. PMID: 28229453

4

MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss.

Bademci G, Abad C, Incesulu A, Rad A, Alper O, Kolb SM, Cengiz FB, Diaz-Horta O, Silan F, Mihci E, Ocak E, Najafi M, Maroofian R, Yilmaz E, Nur BG, Duman D, Guo S, Sant DW, Wang G, Monje PV, Haaf T, Blanton SH, Vona B, Walz K, Tekin M. Bademci G, et al. Among authors: mihci e. Hum Genet. 2018 Jul;137(6-7):479-486. doi: 10.1007/s00439-018-1901-4. Epub 2018 Jul 7. Hum Genet. 2018. PMID: 29982980 Free PMC article.

5

Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience.

Simsek-Kiper PO, Urel-Demir G, Taskiran EZ, Arslan UE, Nur B, Mihci E, Haliloglu M, Alanay Y, Utine GE, Boduroglu K. Simsek-Kiper PO, et al. Among authors: mihci e. J Hum Genet. 2021 Jun;66(6):585-596. doi: 10.1038/s10038-020-00871-0. Epub 2020 Dec 7. J Hum Genet. 2021. PMID: 33288834

6

The clinical phenotype of Koolen-de Vries syndrome in Turkish patients and literature review.

Karamik G, Tuysuz B, Isik E, Yilmaz A, Alanay Y, Sunamak EC, Durmusalioglu EA, Ozkinay F, Cetin GO, Ozturk N, Mihci E, Nur B. Karamik G, et al. Among authors: mihci e. Am J Med Genet A. 2023 Jul;191(7):1814-1825. doi: 10.1002/ajmg.a.63207. Epub 2023 Apr 13. Am J Med Genet A. 2023. PMID: 37053206 Review.

7

Germline duplication of chromosomes 10p15.3 and Yp11.32 in a man with learning disability and early onset cutaneous malignant melanoma.

Mihci E, Lindor NM. Mihci E, et al. Am J Med Genet A. 2008 Sep 1;146A(17):2298-300. doi: 10.1002/ajmg.a.32442. Am J Med Genet A. 2008. PMID: 18671282 No abstract available.

8

Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to Nager syndrome.

Nur BG, Bernier FP, Oztekin O, Kardelen F, Kalay S, Parboosingh JS, Mihci E. Nur BG, et al. Among authors: mihci e. Am J Med Genet A. 2013 Sep;161A(9):2311-5. doi: 10.1002/ajmg.a.36051. Epub 2013 Aug 2. Am J Med Genet A. 2013. PMID: 23913624

9

A novel AXIN2 gene mutation in sagittal synostosis.

Yilmaz E, Mihci E, Guzel Nur B, Alper OM. Yilmaz E, et al. Among authors: mihci e. Am J Med Genet A. 2018 Sep;176(9):1976-1980. doi: 10.1002/ajmg.a.40373. Epub 2018 Aug 8. Am J Med Genet A. 2018. PMID: 30088857

10

Pure and complete 12p trisomy due to a maternal centric fission of chromosome 12.

Cetin Z, Mihci E, Yakut S, Keser I, Karauzum SB, Luleci G. Cetin Z, et al. Among authors: mihci e. Am J Med Genet A. 2011 Feb;155A(2):349-52. doi: 10.1002/ajmg.a.33811. Epub 2011 Jan 13. Am J Med Genet A. 2011. PMID: 21271652

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