173 related articles for article (PubMed ID: 35764379)
1. Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach.
Best S; Yu J; Lord J; Roche M; Watson CM; Bevers RPJ; Stuckey A; Madhusudhan S; Jewell R; Sisodiya SM; Lin S; Turner S; Robinson H; Leslie JS; Baple E; ; Toomes C; Inglehearn C; Wheway G; Johnson CA
J Med Genet; 2022 Dec; 59(12):1151-1164. PubMed ID: 35764379
[TBL] [Abstract][Full Text] [Related]
2. Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project.
Best S; Lord J; Roche M; Watson CM; Poulter JA; Bevers RPJ; Stuckey A; Szymanska K; Ellingford JM; Carmichael J; Brittain H; Toomes C; Inglehearn C; Johnson CA; Wheway G;
J Med Genet; 2022 Aug; 59(8):737-747. PubMed ID: 34716235
[TBL] [Abstract][Full Text] [Related]
3. High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.
Hammarsjö A; Pettersson M; Chitayat D; Handa A; Anderlid BM; Bartocci M; Basel D; Batkovskyte D; Beleza-Meireles A; Conner P; Eisfeldt J; Girisha KM; Chung BH; Horemuzova E; Hyodo H; Korņejeva L; Lagerstedt-Robinson K; Lin AE; Magnusson M; Moosa S; Nayak SS; Nilsson D; Ohashi H; Ohashi-Fukuda N; Stranneheim H; Taylan F; Traberg R; Voss U; Wirta V; Nordgren A; Nishimura G; Lindstrand A; Grigelioniene G
J Hum Genet; 2021 Oct; 66(10):995-1008. PubMed ID: 33875766
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet-Biedl Syndrome.
Nawaz H; Mujahid ; Khan SA; Bibi F; Waqas A; Bari A; Fardous ; Khan N; Muhammad N; Khan A; Paracha SA; Alam Q; Kamal MA; Rafeeq MM; Muhammad N; Haq FU; Khan S; Mahmood A; Khan S; Umair M
Genes (Basel); 2023 May; 14(5):. PubMed ID: 37239474
[TBL] [Abstract][Full Text] [Related]
6. Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies.
König J; Kranz B; König S; Schlingmann KP; Titieni A; Tönshoff B; Habbig S; Pape L; Häffner K; Hansen M; Büscher A; Bald M; Billing H; Schild R; Walden U; Hampel T; Staude H; Riedl M; Gretz N; Lablans M; Bergmann C; Hildebrandt F; Omran H; Konrad M;
Clin J Am Soc Nephrol; 2017 Dec; 12(12):1974-1983. PubMed ID: 29146700
[TBL] [Abstract][Full Text] [Related]
7. [Ciliopathies].
Gerth-Kahlert C; Koller S
Klin Monbl Augenheilkd; 2018 Mar; 235(3):264-272. PubMed ID: 29534263
[TBL] [Abstract][Full Text] [Related]
8. Ciliopathies: Coloring outside of the lines.
Strong A; Li D; Mentch F; Bedoukian E; Hartung EA; Meyers K; Skraban C; Wen J; Medne L; Glessner J; Watson D; Krantz I; Hakonarson H
Am J Med Genet A; 2021 Mar; 185(3):687-694. PubMed ID: 33369054
[TBL] [Abstract][Full Text] [Related]
9. RIN2 and BBS7 variants as cause of a coincidental syndrome.
Shaukat M; Ishaq T; Muhammad N; Naz S
Eur J Med Genet; 2020 Mar; 63(3):103755. PubMed ID: 31521835
[TBL] [Abstract][Full Text] [Related]
10. Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes.
Castro-Sánchez S; Álvarez-Satta M; Tohamy MA; Beltran S; Derdak S; Valverde D
PLoS One; 2017; 12(8):e0183081. PubMed ID: 28800606
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 26082521
[TBL] [Abstract][Full Text] [Related]
12. Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis.
Surl D; Shin S; Lee ST; Choi JR; Lee J; Byeon SH; Han SH; Lim HT; Han J
Mol Vis; 2020; 26():26-35. PubMed ID: 32165824
[TBL] [Abstract][Full Text] [Related]
13. BBS mutations modify phenotypic expression of CEP290-related ciliopathies.
Zhang Y; Seo S; Bhattarai S; Bugge K; Searby CC; Zhang Q; Drack AV; Stone EM; Sheffield VC
Hum Mol Genet; 2014 Jan; 23(1):40-51. PubMed ID: 23943788
[TBL] [Abstract][Full Text] [Related]
14. Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders.
Radha Rama Devi A; Naushad SM; Lingappa L
Pediatr Neurol; 2020 May; 106():43-49. PubMed ID: 32139166
[TBL] [Abstract][Full Text] [Related]
15. Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome.
Aksu Uzunhan T; Ertürk B; Aydın K; Ayaz A; Altunoğlu U; Yarar MH; Gezdirici A; İçağasıoğlu DF; Gökpınar İli E; Uyanık B; Eser M; Kutbay YB; Topçu Y; Kılıç B; Bektaş G; Arduç Akçay A; Ekici B; Chousein A; Avcı Ş; Yüksel A; Kayserili H
Clin Neurol Neurosurg; 2023 Jan; 224():107560. PubMed ID: 36580738
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 26518167
[TBL] [Abstract][Full Text] [Related]
17. Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.
Redin C; Le Gras S; Mhamdi O; Geoffroy V; Stoetzel C; Vincent MC; Chiurazzi P; Lacombe D; Ouertani I; Petit F; Till M; Verloes A; Jost B; Chaabouni HB; Dollfus H; Mandel JL; Muller J
J Med Genet; 2012 Aug; 49(8):502-12. PubMed ID: 22773737
[TBL] [Abstract][Full Text] [Related]
18. Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis.
Rachel RA; May-Simera HL; Veleri S; Gotoh N; Choi BY; Murga-Zamalloa C; McIntyre JC; Marek J; Lopez I; Hackett AN; Zhang J; Brooks M; den Hollander AI; Beales PL; Li T; Jacobson SG; Sood R; Martens JR; Liu P; Friedman TB; Khanna H; Koenekoop RK; Kelley MW; Swaroop A
J Clin Invest; 2012 Apr; 122(4):1233-45. PubMed ID: 22446187
[TBL] [Abstract][Full Text] [Related]
19. Ciliopathies and the Kidney: A Review.
McConnachie DJ; Stow JL; Mallett AJ
Am J Kidney Dis; 2021 Mar; 77(3):410-419. PubMed ID: 33039432
[TBL] [Abstract][Full Text] [Related]
20. Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B.
Viehl L; Wegner DJ; Hmiel SP; White FV; Jain S; Cole FS; Wambach JA
Pediatr Nephrol; 2023 Feb; 38(2):605-609. PubMed ID: 35695966
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]