Rosti RÖ - Search Results

1

Güveli BT, Rosti RÖ, Güzeltaş A, Tuna EB, Ataklı D, Sencer S, Yekeler E, Kayserili H, Dirican A, Bebek N, Baykan B, Gökyiğit A, Gürses C. Güveli BT, et al. Among authors: rosti ro. Clin Psychopharmacol Neurosci. 2017 Feb 28;15(1):19-27. doi: 10.9758/cpn.2017.15.1.19. Clin Psychopharmacol Neurosci. 2017. PMID: 28138106 Free PMC article.

2

Kabuki make-up syndrome with unilateral renal agenesis.

Rosti RO, Kayserili H. Rosti RO, et al. Turk J Pediatr. 2009 May-Jun;51(3):298-300. Turk J Pediatr. 2009. PMID: 19817278

3

Microcephaly, dysmorphic features, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds, and small cerebellum in four patients.

Kayserili H, Altunoglu U, Yesil G, Rosti RÖ. Kayserili H, et al. Among authors: rosti ro. Am J Med Genet A. 2016 Jun;170(6):1391-9. doi: 10.1002/ajmg.a.37652. Epub 2016 Apr 13. Am J Med Genet A. 2016. PMID: 27075597

4

Orodental findings of a family with lacrimo-auriculo-dento digital (LADD) syndrome.

Guven Y, Rosti RO, Tuna EB, Kayserili H, Aktoren O. Guven Y, et al. Among authors: rosti ro. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2008 Dec;106(6):e33-44. doi: 10.1016/j.tripleo.2008.07.019. Epub 2008 Sep 17. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2008. PMID: 18801668

5

A de novo complex chromosomal rearrangement involving chromosomes 2, 8 and 13 in a dysmorphic case with polysyndactyly.

Karaman B, Rosti RO, Yilmaz K, Oztürk H, Kayserili H, Başaran S. Karaman B, et al. Among authors: rosti ro. Turk J Pediatr. 2009 Nov-Dec;51(6):613-6. Turk J Pediatr. 2009. PMID: 20196399

6

Ataxia with vitamin E deficiency associated with deafness.

Kara B, Uzümcü A, Uyguner O, Rosti RO, Koçbaş A, Ozmen M, Kayserili H. Kara B, et al. Among authors: rosti ro. Turk J Pediatr. 2008 Sep-Oct;50(5):471-5. Turk J Pediatr. 2008. PMID: 19102053

7

Angelman syndrome: clinical findings and follow-up data of 14 patients.

Kara B, Karaman B, Ozmen M, Rosti RO, Calişkan M, Kayserili H, Başaran S. Kara B, et al. Among authors: rosti ro. Turk J Pediatr. 2008 Mar-Apr;50(2):137-42. Turk J Pediatr. 2008. PMID: 18664077

8

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.

Roosing S, Romani M, Isrie M, Rosti RO, Micalizzi A, Musaev D, Mazza T, Al-Gazali L, Altunoglu U, Boltshauser E, D'Arrigo S, De Keersmaecker B, Kayserili H, Brandenberger S, Kraoua I, Mark PR, McKanna T, Van Keirsbilck J, Moerman P, Poretti A, Puri R, Van Esch H, Gleeson JG, Valente EM. Roosing S, et al. Among authors: rosti ro. J Med Genet. 2016 Sep;53(9):608-15. doi: 10.1136/jmedgenet-2016-103832. Epub 2016 May 6. J Med Genet. 2016. PMID: 27208211 Free PMC article.

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: rosti ro. Neuron. 2014 Dec 17;84(6):1226-39. doi: 10.1016/j.neuron.2014.12.014. Neuron. 2014. PMID: 25521378 Free PMC article.

10

Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome.

Rosti RO, Sotak BN, Bielas SL, Bhat G, Silhavy JL, Aslanger AD, Altunoglu U, Bilge I, Tasdemir M, Yzaguirrem AD, Musaev D, Infante S, Thuong W, Marin-Valencia I, Nelson SF, Kayserili H, Gleeson JG. Rosti RO, et al. J Med Genet. 2017 Jun;54(6):399-403. doi: 10.1136/jmedgenet-2016-104237. Epub 2017 Mar 9. J Med Genet. 2017. PMID: 28280135

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