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Best matches for BBS10 and Nervous System Diseases:

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Items: 1 to 20 of 42

1.

A pathogenic homozygous variant of the BBS10 gene in a patient with Bardet Biedl syndrome

Ladino LY, Galvis J, Yasnó D, Ramírez A, Beltrán OI.

Biomedica. 2018 Sep 1;38(3):308-320. doi: 10.7705/biomedica.v38i4.4199.

2.

Screening for mutation hotspots in Bardet-Biedl syndrome patients from India.

Chandrasekar SP, Namboothiri S, Sen P, Sarangapani S.

Indian J Med Res. 2018 Feb;147(2):177-182. doi: 10.4103/ijmr.IJMR_1822_15.

3.

Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations.

Kurata K, Hosono K, Hikoya A, Kato A, Saitsu H, Minoshima S, Ogata T, Hotta Y.

Jpn J Ophthalmol. 2018 Jul;62(4):458-466. doi: 10.1007/s10384-018-0591-8. Epub 2018 Apr 17.

PMID:
29666954
4.

[Bardet-Biedl syndrome and Kidney failure: a case report].

Tattoli F, Falconi D, Bottaro C, Gherzi M, Marazzi F, Marengo M, Serra I, Tamagnone M, Formica M.

G Ital Nefrol. 2018 Feb;35(1). pii: 2018-vol1. Italian.

PMID:
29390243
5.

[Patho-physiology of renal dysfunction in Bardet-Biedl Syndrome].

Zona E, Zacchia M, Di Iorio V, Capolongo G, Rinaldi L, Capasso G.

G Ital Nefrol. 2017 Sep 28;34(5):62-72. Review. Italian.

PMID:
28963828
6.

Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.

Ullah A, Umair M, Yousaf M, Khan SA, Nazim-Ud-Din M, Shah K, Ahmad F, Azeem Z, Ali G, Alhaddad B, Rafique A, Jan A, Haack TB, Strom TM, Meitinger T, Ghous T, Ahmad W.

Mol Vis. 2017 Jul 21;23:482-494. eCollection 2017.

7.

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.

8.

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.

9.

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
10.

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
11.

Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families.

Castro-Sánchez S, Álvarez-Satta M, Cortón M, Guillén E, Ayuso C, Valverde D.

J Med Genet. 2015 Aug;52(8):503-13. doi: 10.1136/jmedgenet-2015-103099. Epub 2015 Jun 16.

PMID:
26082521
12.

A novel nonsense mutation in BBS4 gene identified in a Chinese family with Bardet-Biedl syndrome.

Li Q, Zhang Y, Jia L, Peng X.

Chin Med J (Engl). 2014;127(24):4190-6.

PMID:
25533820
13.

Evaluation of visual function and needs in adult patients with bardet-biedl syndrome.

Denniston AK, Beales PL, Tomlins PJ, Good P, Langford M, Foggensteiner L, Williams D, Tsaloumas MD.

Retina. 2014 Nov;34(11):2282-9. doi: 10.1097/IAE.0000000000000222.

PMID:
25170860
14.

Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes.

Fattahi Z, Rostami P, Najmabadi A, Mohseni M, Kahrizi K, Akbari MR, Kariminejad A, Najmabadi H.

J Hum Genet. 2014 Jul;59(7):368-75. doi: 10.1038/jhg.2014.28. Epub 2014 May 22.

PMID:
24849935
15.

Genetic predictors of cardiovascular morbidity in Bardet-Biedl syndrome.

Forsythe E, Sparks K, Hoskins BE, Bagkeris E, McGowan BM, Carroll PV, Huda MS, Mujahid S, Peters C, Barrett T, Mohammed S, Beales PL.

Clin Genet. 2015 Apr;87(4):343-9. doi: 10.1111/cge.12373. Epub 2014 Apr 8. Erratum in: Clin Genet. 2016 May;89(5):636.

16.

Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations in BBS1, BBS10 and BBS12 genes.

Álvarez-Satta M, Castro-Sánchez S, Pereiro I, Piñeiro-Gallego T, Baiget M, Ayuso C, Valverde D.

Clin Genet. 2014 Dec;86(6):601-2. doi: 10.1111/cge.12334. Epub 2014 Jan 26. No abstract available.

PMID:
24611592
17.

Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort.

Sathya Priya C, Sen P, Umashankar V, Gupta N, Kabra M, Kumaramanickavel G, Stoetzel C, Dollfus H, Sripriya S.

Clin Genet. 2015 Feb;87(2):161-6. doi: 10.1111/cge.12342. Epub 2014 Feb 18.

PMID:
24400638
18.

Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null mice.

Chamling X, Seo S, Bugge K, Searby C, Guo DF, Drack AV, Rahmouni K, Sheffield VC.

PLoS One. 2013;8(3):e59101. doi: 10.1371/journal.pone.0059101. Epub 2013 Mar 15.

19.

Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis.

M'hamdi O, Redin C, Stoetzel C, Ouertani I, Chaabouni M, Maazoul F, M'rad R, Mandel JL, Dollfus H, Muller J, Chaabouni H.

Clin Genet. 2014 Feb;85(2):172-7. doi: 10.1111/cge.12129. Epub 2013 Apr 5.

PMID:
23432027
20.

A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet-Biedl syndrome in a Pakistani family.

Agha Z, Iqbal Z, Azam M, Hoefsloot LH, van Bokhoven H, Qamar R.

Gene. 2013 Apr 25;519(1):177-81. doi: 10.1016/j.gene.2013.01.047. Epub 2013 Feb 9.

PMID:
23403234

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