Rosti RÖ - Search Results

1

Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas.

Bal E, Park HS, Belaid-Choucair Z, Kayserili H, Naville M, Madrange M, Chiticariu E, Hadj-Rabia S, Cagnard N, Kuonen F, Bachmann D, Huber M, Le Gall C, Côté F, Hanein S, Rosti RÖ, Aslanger AD, Waisfisz Q, Bodemer C, Hermine O, Morice-Picard F, Labeille B, Caux F, Mazereeuw-Hautier J, Philip N, Levy N, Taieb A, Avril MF, Headon DJ, Gyapay G, Magnaldo T, Fraitag S, Crollius HR, Vabres P, Hohl D, Munnich A, Smahi A. Bal E, et al. Among authors: rosti ro. Nat Med. 2017 Oct;23(10):1226-1233. doi: 10.1038/nm.4368. Epub 2017 Sep 4. Nat Med. 2017. PMID: 28869610 Free 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

Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly.

Wang L, Li Z, Sievert D, Smith DEC, Mendes MI, Chen DY, Stanley V, Ghosh S, Wang Y, Kara M, Aslanger AD, Rosti RO, Houlden H, Salomons GS, Gleeson JG. Wang L, et al. Among authors: rosti ro. Nat Commun. 2020 Aug 12;11(1):4038. doi: 10.1038/s41467-020-17454-4. Nat Commun. 2020. PMID: 32788587 Free PMC article.

5

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

6

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

7

Author Correction: Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly.

Wang L, Li Z, Sievert D, Smith DEC, Mendes MI, Chen DY, Stanley V, Ghosh S, Wang Y, Kara M, Aslanger AD, Rosti RO, Houlden H, Salomons GS, Gleeson JG. Wang L, et al. Among authors: rosti ro. Nat Commun. 2021 Feb 15;12(1):1192. doi: 10.1038/s41467-021-21448-1. Nat Commun. 2021. PMID: 33589599 Free PMC article. No abstract available.

8

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

9

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

10

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

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