Gumus H - Search Results

1

MEFV gene compound heterozygous mutations in familial Mediterranean fever phenotype: a retrospective clinical and molecular study.

Caglayan AO, Demiryilmaz F, Ozyazgan I, Gumus H. Caglayan AO, et al. Among authors: gumus h. Nephrol Dial Transplant. 2010 Aug;25(8):2520-3. doi: 10.1093/ndt/gfp632. Epub 2009 Nov 23. Nephrol Dial Transplant. 2010. PMID: 19934083

2

A very rare neurocutaneous disorder in 2 siblings: Sjögren-Larsson syndrome.

Caglayan AO, Gumus H. Caglayan AO, et al. Among authors: gumus h. J Child Neurol. 2010 Aug;25(8):1003-5. doi: 10.1177/0883073809348972. Epub 2010 Feb 8. J Child Neurol. 2010. PMID: 20142464

3

A provisionally unique syndrome with features including "molar tooth" sign and "femoral hypoplasia".

Caglayan AO, Gumus H, Yikilmaz A, Gumus GO, Per H. Caglayan AO, et al. Among authors: gumus h, gumus go. Genet Couns. 2009;20(4):359-65. Genet Couns. 2009. PMID: 20162871

4

Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency.

Gümüş H, Ghesquiere S, Per H, Kondolot M, Ichida K, Poyrazoğlu G, Kumandaş S, Engelen J, Dundar M, Cağlayan AO. Gümüş H, et al. Dev Med Child Neurol. 2010 Sep;52(9):868-72. doi: 10.1111/j.1469-8749.2010.03724.x. Epub 2010 Jun 22. Dev Med Child Neurol. 2010. PMID: 20573177 Free article.

5

Autism with del15p.11.1: case report with a new cytogenetic finding.

Caglayan AO, Gumus H. Caglayan AO, et al. Among authors: gumus h. Genet Couns. 2010;21(2):199-204. Genet Couns. 2010. PMID: 20681220

6

Two female siblings with West syndrome: Familial idiopathic West syndrome with genetic susceptibility and variable phenotypic expression.

Caglayan AO, Gumus H, Kato M. Caglayan AO, et al. Among authors: gumus h. J Pediatr Neurosci. 2010 Jul;5(2):147-9. doi: 10.4103/1817-1745.76116. J Pediatr Neurosci. 2010. PMID: 21559165 Free PMC article.

7

A boy with classical Rubinstein-Taybi syndrome but no detectable mutation in the CREBBP and EP300 genes.

Caglayan AO, Lechno S, Gumus H, Bartsch O, Fryns JP. Caglayan AO, et al. Among authors: gumus h. Genet Couns. 2011;22(4):341-6. Genet Couns. 2011. PMID: 22303793

8

Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum.

Caglayan AO, Per H, Akgumus G, Gumus H, Baranoski J, Canpolat M, Calik M, Yikilmaz A, Bilguvar K, Kumandas S, Gunel M. Caglayan AO, et al. Among authors: gumus h. Clin Genet. 2013 Oct;84(4):394-5. doi: 10.1111/cge.12088. Epub 2013 Feb 20. Clin Genet. 2013. PMID: 23320496 Free PMC article. No abstract available.

9

Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors.

Mishra-Gorur K, Çağlayan AO, Schaffer AE, Chabu C, Henegariu O, Vonhoff F, Akgümüş GT, Nishimura S, Han W, Tu S, Baran B, Gümüş H, Dilber C, Zaki MS, Hossni HA, Rivière JB, Kayserili H, Spencer EG, Rosti RÖ, Schroth J, Per H, Çağlar C, Çağlar Ç, Dölen D, Baranoski JF, Kumandaş S, Minja FJ, Erson-Omay EZ, Mane SM, Lifton RP, Xu T, Keshishian H, Dobyns WB, Chi NC, Šestan N, Louvi A, Bilgüvar K, Yasuno K, Gleeson JG, Günel M. Mishra-Gorur K, et al. Among authors: gumus h. Neuron. 2014 Dec 17;84(6):1226-39. doi: 10.1016/j.neuron.2014.12.014. Neuron. 2014. PMID: 25521378 Free PMC article.

10

A rare case of congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation with Marcus Gunn jaw-winking phenomenon.

Kaçar Bayram A, Per H, Quon J, Canpolat M, Ülgen E, Doğan H, Gumus H, Kumandas S, Bayram N, Bilguvar K, Çağlayan AO. Kaçar Bayram A, et al. Among authors: gumus h. Eur J Paediatr Neurol. 2015 Nov;19(6):743-6. doi: 10.1016/j.ejpn.2015.06.003. Epub 2015 Jul 9. Eur J Paediatr Neurol. 2015. PMID: 26190014

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