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Items: 1 to 20 of 45

1.

Gene Therapeutic Reversal of Peripheral Olfactory Impairment in Bardet-Biedl Syndrome.

Williams CL, Uytingco CR, Green WW, McIntyre JC, Ukhanov K, Zimmerman AD, Shively DT, Zhang L, Nishimura DY, Sheffield VC, Martens JR.

Mol Ther. 2017 Apr 5;25(4):904-916. doi: 10.1016/j.ymthe.2017.02.006. Epub 2017 Feb 22.

PMID:
28237838
2.

Ovarian teratomas in a patient with Bardet-Biedl syndrome, a rare association.

Tica I, Tica OS, Nicoară AD, Tica VI, Tica AA.

Rom J Morphol Embryol. 2016;57(4):1403-1408.

3.

Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants.

Esposito G, Testa F, Zacchia M, Crispo AA, Di Iorio V, Capolongo G, Rinaldi L, D'Antonio M, Fioretti T, Iadicicco P, Rossi S, Franzè A, Marciano E, Capasso G, Simonelli F, Salvatore F.

BMC Med Genet. 2017 Feb 1;18(1):10. doi: 10.1186/s12881-017-0372-0.

4.

Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome.

Forsythe E, Sparks K, Best S, Borrows S, Hoskins B, Sabir A, Barrett T, Williams D, Mohammed S, Goldsmith D, Milford DV, Bockenhauer D, Foggensteiner L, Beales PL.

J Am Soc Nephrol. 2017 Mar;28(3):963-970. doi: 10.1681/ASN.2015091029. Epub 2016 Sep 22.

PMID:
27659767
5.

Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.

Lindstrand A, Frangakis S, Carvalho CM, Richardson EB, McFadden KA, Willer JR, Pehlivan D, Liu P, Pediaditakis IL, Sabo A, Lewis RA, Banin E, Lupski JR, Davis EE, Katsanis N.

Am J Hum Genet. 2016 Aug 4;99(2):318-36. doi: 10.1016/j.ajhg.2015.04.023.

6.

Polydactyly and obesity - the clinical manifestation of ciliopathy: a boy with Bardet-Biedl syndrome.

Szmigielska A, Krzemień G, Roszkowska-Blaim M, Obersztyn E.

Dev Period Med. 2016 Apr-Jun;20(2):105-9.

7.

Bardet Biedl syndrome in South Africa: A single founder mutation.

Fieggen K, Milligan C, Henderson B, Esterhuizen AI.

S Afr Med J. 2016 May 25;106(6 Suppl 1):S72-4. doi: 10.7196/SAMJ.2016.v106i6.11000.

PMID:
27245532
8.

A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome.

Hulleman JD, Nguyen A, Ramprasad VL, Murugan S, Gupta R, Mahindrakar A, Angara R, Sankurathri C, Mootha VV.

Mol Vis. 2016 Jan 24;22:73-81. eCollection 2016.

9.

A Splice Variant of Bardet-Biedl Syndrome 5 (BBS5) Protein that Is Selectively Expressed in Retina.

Bolch SN, Dugger DR, Chong T, McDowell JH, Smith WC.

PLoS One. 2016 Feb 11;11(2):e0148773. doi: 10.1371/journal.pone.0148773. eCollection 2016.

10.
11.

Anesthetic considerations for patients with Bardet-Biedl syndrome: a case series and review of the literature.

Smith BB, Barbara DW, Hyder JA, Smith MM.

Paediatr Anaesth. 2016 Apr;26(4):429-37. doi: 10.1111/pan.12848. Epub 2016 Jan 25.

PMID:
26804322
12.

Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome.

Schaefer E, Stoetzel C, Scheidecker S, Geoffroy V, Prasad MK, Redin C, Missotte I, Lacombe D, Mandel JL, Muller J, Dollfus H.

J Hum Genet. 2016 May;61(5):447-50. doi: 10.1038/jhg.2015.162. Epub 2016 Jan 14.

PMID:
26763875
13.

Genetics of human Bardet-Biedl syndrome, an updates.

Khan SA, Muhammad N, Khan MA, Kamal A, Rehman ZU, Khan S.

Clin Genet. 2016 Jul;90(1):3-15. doi: 10.1111/cge.12737. Epub 2016 Feb 9. Review.

PMID:
26762677
14.

Bardet-Biedl syndrome: multiple fingers with multiple defects!

Madireddi J, Acharya V, Suryanarayana J, Hande HM, Shetty R.

BMJ Case Rep. 2015 Nov 26;2015. pii: bcr2015211776. doi: 10.1136/bcr-2015-211776.

PMID:
26611481
15.

Value of MRI olfactory bulb evaluation in the assessment of olfactory dysfunction in Bardet-Biedl syndrome.

Braun JJ, Noblet V, Kremer S, Molière S, Dollfus H, Marion V, Goetz N, Muller J, Riehm S.

Clin Genet. 2016 Jul;90(1):79-83. doi: 10.1111/cge.12697. Epub 2016 Jan 8.

PMID:
26586152
16.

Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes.

Ece Solmaz A, Onay H, Atik T, Aykut A, Cerrah Gunes M, Ozalp Yuregir O, Bas VN, Hazan F, Kirbiyik O, Ozkinay F.

Eur J Med Genet. 2015 Dec;58(12):689-94. doi: 10.1016/j.ejmg.2015.10.011. Epub 2015 Oct 27.

PMID:
26518167
17.

Characterization of Courtesy Stigma Perceived by Parents of Overweight Children with Bardet-Biedl Syndrome.

Hamlington B, Ivey LE, Brenna E, Biesecker LG, Biesecker BB, Sapp JC.

PLoS One. 2015 Oct 16;10(10):e0140705. doi: 10.1371/journal.pone.0140705. eCollection 2015.

18.

The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan.

Hirano M, Satake W, Ihara K, Tsuge I, Kondo S, Saida K, Betsui H, Okubo K, Sakamoto H, Ueno S, Ikuno Y, Ishihara R, Iwahashi H, Ohishi M, Mano T, Yamashita T, Suzuki Y, Nakamura Y, Kusunoki S, Toda T.

PLoS One. 2015 Sep 1;10(9):e0136317. doi: 10.1371/journal.pone.0136317. eCollection 2015.

19.

Bardet-Biedl syndrome: Is it only cilia dysfunction?

Novas R, Cardenas-Rodriguez M, Irigoín F, Badano JL.

FEBS Lett. 2015 Nov 14;589(22):3479-91. doi: 10.1016/j.febslet.2015.07.031. Epub 2015 Jul 29. Review.

20.

Regulation of Insulin Receptor Trafficking by Bardet Biedl Syndrome Proteins.

Starks RD, Beyer AM, Guo DF, Boland L, Zhang Q, Sheffield VC, Rahmouni K.

PLoS Genet. 2015 Jun 23;11(6):e1005311. doi: 10.1371/journal.pgen.1005311. eCollection 2015 Jun.

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