Cogulu O - Search Results

1

The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation.

Schreml J, Durmaz B, Cogulu O, Keupp K, Beleggia F, Pohl E, Milz E, Coker M, Ucar SK, Nürnberg G, Nürnberg P, Kuhn J, Ozkinay F. Schreml J, et al. Among authors: cogulu o. Hum Genet. 2014 Jan;133(1):29-39. doi: 10.1007/s00439-013-1351-y. Epub 2013 Aug 27. Hum Genet. 2014. PMID: 23982343

2

Cerebro-costo-mandibular syndrome: a case report.

Ozkinay F, Cogulu O, Gündüz C, Cankaya T, Ozkinay C. Ozkinay F, et al. Among authors: cogulu o. Pediatr Int. 2001 Oct;43(5):522-4. doi: 10.1046/j.1442-200x.2001.01430.x. Pediatr Int. 2001. PMID: 11737720 No abstract available.

3

Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patients.

Kilinç MO, Ninis VN, Dağli E, Demirkol M, Ozkinay F, Arikan Z, Coğulu O, Hüner G, Karakoç F, Tolun A. Kilinç MO, et al. Among authors: cogulu o. Am J Med Genet. 2002 Dec 1;113(3):250-7. doi: 10.1002/ajmg.10721. Am J Med Genet. 2002. PMID: 12439892

4

Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene.

Pehlivan S, Ozkinay F, Okutman O, Coğulu O, Ozcan A, Cankaya T, Ulgenalp A. Pehlivan S, et al. Among authors: cogulu o. Turk J Pediatr. 2003 Apr-Jun;45(2):99-101. Turk J Pediatr. 2003. PMID: 12921294

5

Paracentric inversion in the short arm of chromosome 1. Report of a family and review of the literature.

Cogulu O, Ozkinay F, Gunduz C, Cankaya T, Ozkinay C. Cogulu O, et al. Genet Couns. 2003;14(4):419-23. Genet Couns. 2003. PMID: 14738116 Review.

6

A novel mutation in the DIA1 gene in a patient with methemoglobinemia type II.

Yilmaz D, Cogulu O, Ozkinay F, Kavakli K, Roos D. Yilmaz D, et al. Among authors: cogulu o. Am J Med Genet A. 2005 Feb 15;133A(1):101-2. doi: 10.1002/ajmg.a.30467. Am J Med Genet A. 2005. PMID: 15744830 No abstract available.

7

A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia.

Garg A, Cogulu O, Ozkinay F, Onay H, Agarwal AK. Garg A, et al. Among authors: cogulu o. J Clin Endocrinol Metab. 2005 Sep;90(9):5259-64. doi: 10.1210/jc.2004-2560. Epub 2005 Jul 5. J Clin Endocrinol Metab. 2005. PMID: 15998779 Review.

8

Chromosomal rearrangements in children with idiopathic mental retardation using subtelomeric fluorescent in situ hybridization.

Cogulu O, Gunduz C, Karaca E, Onay H, Ozkinay C, Ozkinay F. Cogulu O, et al. Genet Couns. 2006;17(3):321-31. Genet Couns. 2006. PMID: 17100201

9

A case of epicanthus, telecanthus, high palate, transitional vertebra associated with vesicoureteral reflux.

Cogulu O, Durmaz B, Ozkinay C, Ozkinay F. Cogulu O, et al. Acta Paediatr. 2007 Jan;96(1):147-8. doi: 10.1111/j.1651-2227.2007.00050.x. Acta Paediatr. 2007. PMID: 17187628 No abstract available.

10

Two cases of macrocephaly and immune deficiency.

Cogulu O, Aykut A, Kutukculer N, Ozkinay C, Ozkinay F. Cogulu O, et al. Clin Dysmorphol. 2007 Apr;16(2):81-84. doi: 10.1097/MCD.0b013e3280464ee6. Clin Dysmorphol. 2007. PMID: 17351349

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