These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

318 related articles for article (PubMed ID: 26078953)

  • 1. Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl Syndrome.
    Bee YM; Chawla M; Zhao Y
    Biomed Res Int; 2015; 2015():524754. PubMed ID: 26078953
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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. PubMed ID: 26763875
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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. PubMed ID: 26518167
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Multiple genetic mutations implicate spectrum of phenotypes in Bardet-Biedl syndrome.
    Chakrabarty S; Savantre SB; Ramachandra Bhat C; Satyamoorthy K
    Gene; 2020 Jan; 725():144164. PubMed ID: 31639430
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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. PubMed ID: 25533820
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome.
    Ajmal M; Khan MI; Neveling K; Tayyab A; Jaffar S; Sadeque A; Ayub H; Abbasi NM; Riaz M; Micheal S; Gilissen C; Ali SH; Azam M; Collin RW; Cremers FP; Qamar R
    Mol Vis; 2013; 19():644-53. PubMed ID: 23559858
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome.
    Qi Z; Shen Y; Fu Q; Li W; Yang W; Xu W; Chu P; Zhang Y; Wang H
    Sci China Life Sci; 2017 Jul; 60(7):739-745. PubMed ID: 28624958
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly.
    Marion V; Stutzmann F; Gérard M; De Melo C; Schaefer E; Claussmann A; Hellé S; Delague V; Souied E; Barrey C; Verloes A; Stoetzel C; Dollfus H
    J Med Genet; 2012 May; 49(5):317-21. PubMed ID: 22510444
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients.
    Slavotinek AM; Searby C; Al-Gazali L; Hennekam RC; Schrander-Stumpel C; Orcana-Losa M; Pardo-Reoyo S; Cantani A; Kumar D; Capellini Q; Neri G; Zackai E; Biesecker LG
    Hum Genet; 2002 Jun; 110(6):561-7. PubMed ID: 12107442
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing.
    Xing DJ; Zhang HX; Huang N; Wu KC; Huang XF; Huang F; Tong Y; Pang CP; Qu J; Jin ZB
    PLoS One; 2014; 9(3):e90599. PubMed ID: 24608809
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel splicing variant c. 208+2T>C in
    Imani S; Cheng J; Fu J; Mobasher-Jannat A; Wei C; Mohazzab-Torabi S; Jadidi K; Khosravi MH; Shasaltaneh MD; Yang L; Khan MA; Fu J
    Biosci Rep; 2019 Mar; 39(3):. PubMed ID: 30850397
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21).
    Heon E; Kim G; Qin S; Garrison JE; Tavares E; Vincent A; Nuangchamnong N; Scott CA; Slusarski DC; Sheffield VC
    Hum Mol Genet; 2016 Jun; 25(11):2283-2294. PubMed ID: 27008867
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in
    Ali G; Sadia ; Foo JN; Nasir A; Chang CH; Chew EG; Latif Z; Azeem Z; Ain-Ul-Batool S; Kazmi SAR; Awan NB; Khan AH; Rehman FU; Khalid M; Wali A; Sarwar S; Akhtar W; Ahmed Abbasi A; Nisar R
    Biomed Res Int; 2021; 2021():6626015. PubMed ID: 33688495
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations.
    Schaefer E; Lauer J; Durand M; Pelletier V; Obringer C; Claussmann A; Braun JJ; Redin C; Mathis C; Muller J; Schmidt-Mutter C; Flori E; Marion V; Stoetzel C; Dollfus H
    Clin Genet; 2014 May; 85(5):476-81. PubMed ID: 23692385
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome.
    Khan MA; Mohan S; Zubair M; Windpassinger C
    BMC Med Genet; 2016 Feb; 17():10. PubMed ID: 26846096
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Novel homozygous protein-truncating mutation of BBS9 identified in a Chinese consanguineous family with Bardet-Biedl syndrome.
    Tang HY; Xie F; Dai RC; Shi XL
    Mol Genet Genomic Med; 2021 Aug; 9(8):e1731. PubMed ID: 34212515
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A Novel BBS9 Mutation Identified via Whole-Exome Sequencing in a Chinese Family with Bardet-Biedl Syndrome.
    Zhang Y; Xu M; Zhang M; Yang G; Li X
    Biomed Res Int; 2021; 2021():4514967. PubMed ID: 34692830
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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. PubMed ID: 23432027
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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. PubMed ID: 29666954
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutations in MKKS cause Bardet-Biedl syndrome.
    Slavotinek AM; Stone EM; Mykytyn K; Heckenlively JR; Green JS; Heon E; Musarella MA; Parfrey PS; Sheffield VC; Biesecker LG
    Nat Genet; 2000 Sep; 26(1):15-6. PubMed ID: 10973238
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.