PubMed for id: 337527

Year	Number of Results
1995	1
2009	1
2011	1
2012	3
2013	2
2014	1
2015	1
2016	2
2019	2
2024	0

1

Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms.

Bukowy-Bieryllo Z, Rabiasz A, Dabrowski M, Pogorzelski A, Wojda A, Dmenska H, Grzela K, Sroczynski J, Witt M, Zietkiewicz E. Bukowy-Bieryllo Z, et al. J Med Genet. 2019 Nov;56(11):769-777. doi: 10.1136/jmedgenet-2018-105918. Epub 2019 Jul 31. J Med Genet. 2019. PMID: 31366608

2

A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.

Fauth C, Steindl K, Toutain A, Farrell S, Witsch-Baumgartner M, Karall D, Joset P, Böhm S, Baumer A, Maier O, Zschocke J, Weksberg R, Marshall CR, Rauch A. Fauth C, et al. Am J Med Genet A. 2016 Feb;170A(2):392-402. doi: 10.1002/ajmg.a.37452. Epub 2015 Nov 6. Am J Med Genet A. 2016. PMID: 26545172

3

Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.

Bisschoff IJ, Zeschnigk C, Horn D, Wellek B, Rieß A, Wessels M, Willems P, Jensen P, Busche A, Bekkebraten J, Chopra M, Hove HD, Evers C, Heimdal K, Kaiser AS, Kunstmann E, Robinson KL, Linné M, Martin P, McGrath J, Pradel W, Prescott KE, Roesler B, Rudolf G, Siebers-Renelt U, Tyshchenko N, Wieczorek D, Wolff G, Dobyns WB, Morris-Rosendahl DJ. Bisschoff IJ, et al. Hum Mutat. 2013 Jan;34(1):237-47. doi: 10.1002/humu.22224. Epub 2012 Oct 17. Hum Mutat. 2013. PMID: 23033313 Free PMC article.

4

Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).

Webb TR, Parfitt DA, Gardner JC, Martinez A, Bevilacqua D, Davidson AE, Zito I, Thiselton DL, Ressa JH, Apergi M, Schwarz N, Kanuga N, Michaelides M, Cheetham ME, Gorin MB, Hardcastle AJ. Webb TR, et al. Hum Mol Genet. 2012 Aug 15;21(16):3647-54. doi: 10.1093/hmg/dds194. Epub 2012 May 22. Hum Mol Genet. 2012. PMID: 22619378 Free PMC article.

5

Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients.

Tsurusaki Y, Kosho T, Hatasaki K, Narumi Y, Wakui K, Fukushima Y, Doi H, Saitsu H, Miyake N, Matsumoto N. Tsurusaki Y, et al. Clin Genet. 2013 Feb;83(2):135-44. doi: 10.1111/j.1399-0004.2012.01885.x. Epub 2012 May 1. Clin Genet. 2013. PMID: 22548404

6

OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.

Coene KL, Roepman R, Doherty D, Afroze B, Kroes HY, Letteboer SJ, Ngu LH, Budny B, van Wijk E, Gorden NT, Azhimi M, Thauvin-Robinet C, Veltman JA, Boink M, Kleefstra T, Cremers FP, van Bokhoven H, de Brouwer AP. Coene KL, et al. Am J Hum Genet. 2009 Oct;85(4):465-81. doi: 10.1016/j.ajhg.2009.09.002. Am J Hum Genet. 2009. PMID: 19800048 Free PMC article.

7

Regional selection acting on the OFD1 gene family.

Chang TC, Klabnik JL, Liu WS. Chang TC, et al. PLoS One. 2011;6(10):e26195. doi: 10.1371/journal.pone.0026195. Epub 2011 Oct 14. PLoS One. 2011. PMID: 22022562 Free PMC article.

8

The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia.

Hannah WB, DeBrosse S, Kinghorn B, Strausbaugh S, Aitken ML, Rosenfeld M, Wolf WE, Knowles MR, Zariwala MA. Hannah WB, et al. Mol Genet Genomic Med. 2019 Sep;7(9):e911. doi: 10.1002/mgg3.911. Epub 2019 Aug 1. Mol Genet Genomic Med. 2019. PMID: 31373179 Free PMC article. Review.

9

Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome.

Kehrer C, Hoischen A, Menkhaus R, Schwab E, Müller A, Kim S, Kreiß M, Weitensteiner V, Hilger A, Berg C, Geipel A, Reutter H, Gembruch U. Kehrer C, et al. Prenat Diagn. 2016 Oct;36(10):961-965. doi: 10.1002/pd.4920. Epub 2016 Sep 27. Prenat Diagn. 2016. PMID: 27589329

10

Simpson-Golabi-Behmel syndrome types I and II.

Tenorio J, Arias P, Martínez-Glez V, Santos F, García-Miñaur S, Nevado J, Lapunzina P. Tenorio J, et al. Orphanet J Rare Dis. 2014 Sep 20;9:138. doi: 10.1186/s13023-014-0138-0. Orphanet J Rare Dis. 2014. PMID: 25238977 Free PMC article. Review.

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