Semerci CN - Search Results

1

The EEC syndrome and SHFM: report of two cases and mutation analysis of p63 gene.

Ergin H, Semerci CN, Karakuş YT, Scheffer H, Ergin S, Koltuksuz U, Meijer R, Satiroğlu-Tufan NL. Ergin H, et al. Among authors: semerci cn. Turk J Pediatr. 2010 Sep-Oct;52(5):529-33. Turk J Pediatr. 2010. PMID: 21434540

2

A case with proximal femoral focal deficiency (PFFD) and fibular A/hypoplasia (FA/H) associated with urogenital anomalies.

Ergin H, Semerci CN, Bican M, Düzcan F, Yagci AB, Erdogan KM, Tufan AC. Ergin H, et al. Among authors: semerci cn. Turk J Pediatr. 2006 Oct-Dec;48(4):380-2. Turk J Pediatr. 2006. PMID: 17290579

3

Patient with 45,X karyotype and severe virilization occult Y sequences.

Corduk N, Semiz S, Koltuksuz U, Semerci CN, Duzcan F, Duzcan E, Satiroglu-Tufan NL. Corduk N, et al. Among authors: semerci cn. Pediatr Int. 2012 Feb;54(1):140-4. doi: 10.1111/j.1442-200X.2011.03473.x. Pediatr Int. 2012. PMID: 22335325 No abstract available.

4

Accurate diagnosis of a homozygous G1138A mutation in the fibroblast growth factor receptor 3 gene responsible for achondroplasia.

Satiroglu-Tufan NL, Tufan AC, Semerci CN, Bagci H. Satiroglu-Tufan NL, et al. Among authors: semerci cn. Tohoku J Exp Med. 2006 Feb;208(2):103-7. doi: 10.1620/tjem.208.103. Tohoku J Exp Med. 2006. PMID: 16434832 Free article.

5

Serum or plasma cartilage oligomeric matrix protein concentration as a diagnostic marker in pseudoachondroplasia: differential diagnosis of a family.

Tufan AC, Satiroglu-Tufan NL, Jackson GC, Semerci CN, Solak S, Yagci B. Tufan AC, et al. Among authors: semerci cn. Eur J Hum Genet. 2007 Oct;15(10):1023-8. doi: 10.1038/sj.ejhg.5201882. Epub 2007 Jun 20. Eur J Hum Genet. 2007. PMID: 17579668

6

Detection of Y chromosomal material in patients with a 45,X karyotype by PCR method.

Semerci CN, Satiroglu-Tufan NL, Turan S, Bereket A, Tuysuz B, Yilmaz E, Kayserili H, Karaman B, Semiz S, Duzcan F, Bagci H. Semerci CN, et al. Tohoku J Exp Med. 2007 Mar;211(3):243-9. doi: 10.1620/tjem.211.243. Tohoku J Exp Med. 2007. PMID: 17347549 Free article.

7

Fetal sodium valproate exposure causes Baller-Gerold syndrome phenotype: both phenotypes in the same family.

Ozdemir OM, Kiliç I, Ozsari T, Kiliç BA, Faivre L, Aral B, Gürses D, Semerci CN. Ozdemir OM, et al. Among authors: semerci cn. Turk J Pediatr. 2009 Nov-Dec;51(6):631-6. Turk J Pediatr. 2009. PMID: 20196403

8

Cerebro-oculo-facio-skeletal syndrome: report of two cases from Turkey with postmortem findings.

Semerci CN, Onat N, Günçe S, Demirel N, Yilmazer MB, Oznur I, Türkyilmaz C, Balci S. Semerci CN, et al. Turk J Pediatr. 2002 Jul-Sep;44(3):269-73. Turk J Pediatr. 2002. PMID: 12405446

9

Homozygous feature of isolated triphalangeal thumb-preaxial polydactyly linked to 7q36: no phenotypic difference between homozygotes and heterozygotes.

Semerci CN, Demirkan F, Ozdemir M, Biskin E, Akin B, Bagci H, Akarsu NA. Semerci CN, et al. Clin Genet. 2009 Jul;76(1):85-90. doi: 10.1111/j.1399-0004.2009.01192.x. Epub 2009 Jun 9. Clin Genet. 2009. PMID: 19519794

10

Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia.

Semerci CN, Kalay E, Yıldırım C, Dinçer T, Olmez A, Toraman B, Koçyiğit A, Bulgu Y, Okur V, Satıroğlu-Tufan L, Akarsu NA. Semerci CN, et al. Br J Ophthalmol. 2014 Jun;98(6):832-40. doi: 10.1136/bjophthalmol-2013-304058. Epub 2014 Feb 25. Br J Ophthalmol. 2014. PMID: 24568872

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