202 related articles for article (PubMed ID: 31639430)
1. 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]
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. Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum.
Maria M; Lamers IJ; Schmidts M; Ajmal M; Jaffar S; Ullah E; Mustafa B; Ahmad S; Nazmutdinova K; Hoskins B; van Wijk E; Koster-Kamphuis L; Khan MI; Beales PL; Cremers FP; Roepman R; Azam M; Arts HH; Qamar R
Sci Rep; 2016 Oct; 6():34764. PubMed ID: 27708425
[TBL] [Abstract][Full Text] [Related]
5. 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; 18(1):10. PubMed ID: 28143435
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. 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; 22():73-81. PubMed ID: 26900326
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18).
Scheidecker S; Etard C; Pierce NW; Geoffroy V; Schaefer E; Muller J; Chennen K; Flori E; Pelletier V; Poch O; Marion V; Stoetzel C; Strähle U; Nachury MV; Dollfus H
J Med Genet; 2014 Feb; 51(2):132-6. PubMed ID: 24026985
[TBL] [Abstract][Full Text] [Related]
12. Bardet-Biedl Syndrome in rhesus macaques: A nonhuman primate model of retinitis pigmentosa.
Peterson SM; McGill TJ; Puthussery T; Stoddard J; Renner L; Lewis AD; Colgin LMA; Gayet J; Wang X; Prongay K; Cullin C; Dozier BL; Ferguson B; Neuringer M
Exp Eye Res; 2019 Dec; 189():107825. PubMed ID: 31589838
[TBL] [Abstract][Full Text] [Related]
13. Bardet-Biedl syndrome in two unrelated patients with identical compound heterozygous SCLT1 mutations.
Morisada N; Hamada R; Miura K; Ye MJ; Nozu K; Hattori M; Iijima K
CEN Case Rep; 2020 Aug; 9(3):260-265. PubMed ID: 32253632
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 29806606
[TBL] [Abstract][Full Text] [Related]
15. Homozygous mutation in
Yıldız Bölükbaşı E; Mumtaz S; Afzal M; Woehlbier U; Malik S; Tolun A
J Med Genet; 2018 Mar; 55(3):189-197. PubMed ID: 29127258
[TBL] [Abstract][Full Text] [Related]
16. Apparent but unconfirmed digenism in an Iranian consanguineous family with syndromic Retinal Disease.
Beigi F; Del Pozo-Valero M; Martin-Merida I; Perea-Romero I; Manaviat MR; Ayuso C; Ghasemi N
Exp Eye Res; 2021 Jun; 207():108533. PubMed ID: 33741323
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.
Estrada-Cuzcano A; Koenekoop RK; Senechal A; De Baere EB; de Ravel T; Banfi S; Kohl S; Ayuso C; Sharon D; Hoyng CB; Hamel CP; Leroy BP; Ziviello C; Lopez I; Bazinet A; Wissinger B; Sliesoraityte I; Avila-Fernandez A; Littink KW; Vingolo EM; Signorini S; Banin E; Mizrahi-Meissonnier L; Zrenner E; Kellner U; Collin RW; den Hollander AI; Cremers FP; Klevering BJ
Arch Ophthalmol; 2012 Nov; 130(11):1425-32. PubMed ID: 23143442
[TBL] [Abstract][Full Text] [Related]
19. Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.
Mary L; Chennen K; Stoetzel C; Antin M; Leuvrey A; Nourisson E; Alanio-Detton E; Antal MC; Attié-Bitach T; Bouvagnet P; Bouvier R; Buenerd A; Clémenson A; Devisme L; Gasser B; Gilbert-Dussardier B; Guimiot F; Khau Van Kien P; Leroy B; Loget P; Martinovic J; Pelluard F; Perez MJ; Petit F; Pinson L; Rooryck-Thambo C; Poch O; Dollfus H; Schaefer E; Muller J
Clin Genet; 2019 Mar; 95(3):384-397. PubMed ID: 30614526
[TBL] [Abstract][Full Text] [Related]
20. Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.
Laurier V; Stoetzel C; Muller J; Thibault C; Corbani S; Jalkh N; Salem N; Chouery E; Poch O; Licaire S; Danse JM; Amati-Bonneau P; Bonneau D; Mégarbané A; Mandel JL; Dollfus H
Eur J Hum Genet; 2006 Nov; 14(11):1195-203. PubMed ID: 16823392
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
