Boduroglu K - Search Results

1

Neocentric small supernumerary marker chromosomes (sSMC)--three more cases and review of the literature.

Liehr T, Utine GE, Trautmann U, Rauch A, Kuechler A, Pietrzak J, Bocian E, Kosyakova N, Mrasek K, Boduroglu K, Weise A, Aktas D. Liehr T, et al. Among authors: boduroglu k. Cytogenet Genome Res. 2007;118(1):31-7. doi: 10.1159/000106438. Cytogenet Genome Res. 2007. PMID: 17901697 Review.

2

A spectrum of TP63-related disorders with eight affected individuals in five unrelated families.

Soğukpınar M, Utine GE, Boduroğlu K, Şimşek-Kiper PÖ. Soğukpınar M, et al. Among authors: boduroglu k. Eur J Med Genet. 2024 Apr;68:104911. doi: 10.1016/j.ejmg.2024.104911. Epub 2024 Jan 26. Eur J Med Genet. 2024. PMID: 38281558 Free article.

3

Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand abnormal calcification type: Further expanding the mutational spectrum and dental findings of three new patients.

Akalın A, Özşin C, Koç N, Demir GÜ, Alanay Y, Utine E, Boduroğlu K, Tekçiçek M, Şimşek-Kiper PÖ. Akalın A, et al. Among authors: boduroglu k. Eur J Med Genet. 2023 Apr;66(4):104708. doi: 10.1016/j.ejmg.2023.104708. Epub 2023 Jan 30. Eur J Med Genet. 2023. PMID: 36720430

4

Homozygous Missense Epithelial Cell Adhesion Molecule Variant in a Patient with Congenital Tufting Enteropathy and Literature Review.

Güvenoğlu M, Şimşek-Kiper PÖ, Koşukcu C, Taskiran EZ, Saltık-Temizel İN, Gucer S, Utine E, Boduroğlu K. Güvenoğlu M, et al. Among authors: boduroglu k. Pediatr Gastroenterol Hepatol Nutr. 2022 Nov;25(6):441-452. doi: 10.5223/pghn.2022.25.6.441. Epub 2022 Nov 2. Pediatr Gastroenterol Hepatol Nutr. 2022. PMID: 36451688 Free PMC article. Review.

5

Myelodysplastic syndrome associated with monosomy 7 in a child with Bloom syndrome.

Aktas D, Koc A, Boduroglu K, Hicsonmez G, Tuncbilek E. Aktas D, et al. Among authors: boduroglu k. Cancer Genet Cytogenet. 2000 Jan 1;116(1):44-6. doi: 10.1016/s0165-4608(99)00099-0. Cancer Genet Cytogenet. 2000. PMID: 10616531

6

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

7

Cryptic trisomy 5q35.2qter and deletion 1p36.3 characterised using FISH and array-based CGH.

Utine EG, Alanay Y, Aktas D, Alikasifoglu M, Boduroglu K, Vermeesch J, Tuncbilek E, Fryns JP. Utine EG, et al. Among authors: boduroglu k. Eur J Med Genet. 2008 Jul-Aug;51(4):343-50. doi: 10.1016/j.ejmg.2008.03.002. Epub 2008 Mar 27. Eur J Med Genet. 2008. PMID: 18440888

8

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

9

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.

10

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

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