Boduroglu K - Search Results

1

Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3.

Simsek-Kiper PO, Jacob P, Upadhyai P, Taşkıran ZE, Guleria VS, Karaosmanoglu B, Imren G, Gocmen R, Bhavani GS, Kausthubham N, Shah H, Utine GE, Boduroglu K, Girisha KM. Simsek-Kiper PO, et al. Among authors: boduroglu k. Hum Mutat. 2022 Dec;43(12):2116-2129. doi: 10.1002/humu.24478. Epub 2022 Oct 8. Hum Mutat. 2022. PMID: 36150098 Free PMC article. Review.

2

Coexistent mosaic monosomy 21 and fragile X syndrome in a mentally retarded male patient.

Utine GE, Aktas D, Boduroğlu K, Alikasifoğlu M, Tunçbilek E. Utine GE, et al. Among authors: boduroglu k. Genet Couns. 2007;18(2):171-7. Genet Couns. 2007. PMID: 17710869

3

Kabuki syndrome and trisomy 10p.

Utine GE, Alanay Y, Atkaş D, Boduroğlu K, Alikaşifoğlu M, Tunçbilek E. Utine GE, et al. Among authors: boduroglu k. Genet Couns. 2008;19(3):291-300. Genet Couns. 2008. PMID: 18990985

4

Partial distal aphalangia, duplication of metatarsal IV, microcephaly and borderline intelligence: a third patient suggesting autosomal recessive inheritance.

Utine GE, Alanay Y, Aktaş D, Alikaşifoğlu M, Boduroğlu K. Utine GE, et al. Among authors: boduroglu k. Am J Med Genet A. 2009 Jun;149A(6):1317-8. doi: 10.1002/ajmg.a.32825. Am J Med Genet A. 2009. PMID: 19449409 No abstract available.

5

Subtelomeric rearrangements in mental retardation: Hacettepe University experience in 130 patients.

Utine GE, Celik T, Alanay Y, Alikaşifoğlu M, Boduroğlu K, Tunçbilek E, Aktaş D. Utine GE, et al. Among authors: boduroglu k. Turk J Pediatr. 2009 May-Jun;51(3):199-206. Turk J Pediatr. 2009. PMID: 19817261

6

Rare sex chromosome aneuploidies: 49,XXXXY and 48,XXXY syndromes.

Simşek PO, Utine GE, Alikaşifoğlu A, Alanay Y, Boduroğlu K, Kandemir N. Simşek PO, et al. Among authors: boduroglu k. Turk J Pediatr. 2009 May-Jun;51(3):294-7. Turk J Pediatr. 2009. PMID: 19817277

7

A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis.

Utine GE, Breckpot J, Thienpont B, Alanay Y, Aksoy C, Boduroğlu K, Devriendt K. Utine GE, et al. Among authors: boduroglu k. Am J Med Genet A. 2010 Apr;152A(4):947-9. doi: 10.1002/ajmg.a.33325. Am J Med Genet A. 2010. PMID: 20358606

8

Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.

Alanay Y, Avaygan H, Camacho N, Utine GE, Boduroglu K, Aktas D, Alikasifoglu M, Tuncbilek E, Orhan D, Bakar FT, Zabel B, Superti-Furga A, Bruckner-Tuderman L, Curry CJ, Pyott S, Byers PH, Eyre DR, Baldridge D, Lee B, Merrill AE, Davis EC, Cohn DH, Akarsu N, Krakow D. Alanay Y, et al. Among authors: boduroglu k. Am J Hum Genet. 2010 Apr 9;86(4):551-9. doi: 10.1016/j.ajhg.2010.02.022. Epub 2010 Apr 1. Am J Hum Genet. 2010. PMID: 20362275 Free PMC article.

9

A mutation screen in patients with Kabuki syndrome.

Li Y, Bögershausen N, Alanay Y, Simsek Kiper PO, Plume N, Keupp K, Pohl E, Pawlik B, Rachwalski M, Milz E, Thoenes M, Albrecht B, Prott EC, Lehmkühler M, Demuth S, Utine GE, Boduroglu K, Frankenbusch K, Borck G, Gillessen-Kaesbach G, Yigit G, Wieczorek D, Wollnik B. Li Y, et al. Among authors: boduroglu k. Hum Genet. 2011 Dec;130(6):715-24. doi: 10.1007/s00439-011-1004-y. Epub 2011 May 24. Hum Genet. 2011. PMID: 21607748

10

Catel-Manzke syndrome: a clinical report suggesting autosomal recessive inheritance.

Kiper PÖ, Utine GE, Boduroğlu K, Alanay Y. Kiper PÖ, et al. Among authors: boduroglu k. Am J Med Genet A. 2011 Sep;155A(9):2288-92. doi: 10.1002/ajmg.a.34163. Epub 2011 Aug 10. Am J Med Genet A. 2011. PMID: 21834032

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