195 related articles for article (PubMed ID: 30558011)
1. A human ciliopathy with polycystic ovarian syndrome and multiple subcutaneous cysts: A rare case report.
Tan K; Liu P; Pang L; Yang W; Hou F
Medicine (Baltimore); 2018 Dec; 97(50):e13531. PubMed ID: 30558011
[TBL] [Abstract][Full Text] [Related]
2. Expanding Phenotype of Nephronophthisis-Related Ciliopathy: an Elderly Patient with Homozygous RPGRIP1L Mutation.
Kawaguchi T; Yoshida T; Hirahashi J; Uehara T; Takenouchi T; Kosaki K; Itoh H; Hayashi M
Nephron; 2018; 140(1):74-78. PubMed ID: 29991045
[TBL] [Abstract][Full Text] [Related]
3. [Association of congenital liver fibrosis, Caroli's disease and medullary renal cysts in 2 siblings].
Veltri A; Serrallonga M; Regge D; Grosso M; Bessè F; Durazzo M
Radiol Med; 1994; 88(1-2):162-4. PubMed ID: 8066249
[No Abstract] [Full Text] [Related]
4. 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]
5. Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.
Stokman MF; van der Zwaag B; van de Kar NCAJ; van Haelst MM; van Eerde AM; van der Heijden JW; Kroes HY; Ippel E; Schulp AJA; van Gassen KL; van Rooij IALM; Giles RH; Beales PL; Roepman R; Arts HH; Bongers EMHF; Renkema KY; Knoers NVAM; van Reeuwijk J; Lilien MR
Pediatr Nephrol; 2018 Oct; 33(10):1701-1712. PubMed ID: 29974258
[TBL] [Abstract][Full Text] [Related]
6. A Homozygous Synonymous Variant Likely Cause of Severe Ciliopathy Phenotype.
Tuncel G; Kaymakamzade B; Engindereli Y; Temel SG; Ergoren MC
Genes (Basel); 2021 Jun; 12(6):. PubMed ID: 34205586
[TBL] [Abstract][Full Text] [Related]
7. Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.
Van De Weghe JC; Rusterholz TDS; Latour B; Grout ME; Aldinger KA; Shaheen R; Dempsey JC; Maddirevula S; Cheng YH; Phelps IG; Gesemann M; Goel H; Birk OS; Alanzi T; Rawashdeh R; Khan AO; ; Bamshad MJ; Nickerson DA; Neuhauss SCF; Dobyns WB; Alkuraya FS; Roepman R; Bachmann-Gagescu R; Doherty D
Am J Hum Genet; 2017 Jul; 101(1):23-36. PubMed ID: 28625504
[TBL] [Abstract][Full Text] [Related]
8. Expanding the Phenotype of the
Siegert S; Mindler GT; Brücke C; Kranzl A; Patsch J; Ritter M; Janecke AR; Vodopiutz J
Genes (Basel); 2021 Oct; 12(11):. PubMed ID: 34828254
[TBL] [Abstract][Full Text] [Related]
9. Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans.
Shaheen R; Jiang N; Alzahrani F; Ewida N; Al-Sheddi T; Alobeid E; Musaev D; Stanley V; Hashem M; Ibrahim N; Abdulwahab F; Alshenqiti A; Sonmez FM; Saqati N; Alzaidan H; Al-Qattan MM; Al-Mohanna F; Gleeson JG; Alkuraya FS
Am J Hum Genet; 2019 Apr; 104(4):731-737. PubMed ID: 30905400
[TBL] [Abstract][Full Text] [Related]
10. Characterizing the morbid genome of ciliopathies.
Shaheen R; Szymanska K; Basu B; Patel N; Ewida N; Faqeih E; Al Hashem A; Derar N; Alsharif H; Aldahmesh MA; Alazami AM; Hashem M; Ibrahim N; Abdulwahab FM; Sonbul R; Alkuraya H; Alnemer M; Al Tala S; Al-Husain M; Morsy H; Seidahmed MZ; Meriki N; Al-Owain M; AlShahwan S; Tabarki B; Salih MA; ; Faquih T; El-Kalioby M; Ueffing M; Boldt K; Logan CV; Parry DA; Al Tassan N; Monies D; Megarbane A; Abouelhoda M; Halees A; Johnson CA; Alkuraya FS
Genome Biol; 2016 Nov; 17(1):242. PubMed ID: 27894351
[TBL] [Abstract][Full Text] [Related]
11. Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel.
Al-Hamed MH; Kurdi W; Alsahan N; Alabdullah Z; Abudraz R; Tulbah M; Alnemer M; Khan R; Al-Jurayb H; Alahmed A; Tahir AI; Khalil D; Edwards N; Al Abdulaziz B; Binhumaid FS; Majid S; Faquih T; El-Kalioby M; Abouelhoda M; Altassan N; Monies D; Meyer B; Sayer JA; Albaqumi M
J Med Genet; 2016 May; 53(5):338-47. PubMed ID: 26862157
[TBL] [Abstract][Full Text] [Related]
12. Diversity of renal phenotypes in patients with WDR19 mutations: Two case reports.
Yoshikawa T; Kamei K; Nagata H; Saida K; Sato M; Ogura M; Ito S; Miyazaki O; Urushihara M; Kondo S; Sugawara N; Ishizuka K; Hamasaki Y; Shishido S; Morisada N; Iijima K; Nagata M; Yoshioka T; Ogata K; Ishikura K
Nephrology (Carlton); 2017 Jul; 22(7):566-571. PubMed ID: 28621010
[TBL] [Abstract][Full Text] [Related]
13. Caroli disease with subcutaneous hemorrhage as the sole clinical manifestation: A case report.
Yang W; Jin Q
Medicine (Baltimore); 2023 Dec; 102(50):e36573. PubMed ID: 38115240
[TBL] [Abstract][Full Text] [Related]
14. Hepatorenal fibrocystic diseases in children.
Park E; Lee JM; Ahn YH; Kang HG; Ha II; Lee JH; Park YS; Kim NK; Park WY; Cheong HI
Pediatr Nephrol; 2016 Jan; 31(1):113-9. PubMed ID: 26260382
[TBL] [Abstract][Full Text] [Related]
15. Molecular genetics of renal ciliopathies.
Barroso-Gil M; Olinger E; Sayer JA
Biochem Soc Trans; 2021 Jun; 49(3):1205-1220. PubMed ID: 33960378
[TBL] [Abstract][Full Text] [Related]
16. Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
Halbritter J; Porath JD; Diaz KA; Braun DA; Kohl S; Chaki M; Allen SJ; Soliman NA; Hildebrandt F; Otto EA;
Hum Genet; 2013 Aug; 132(8):865-84. PubMed ID: 23559409
[TBL] [Abstract][Full Text] [Related]
17. Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.
Devlin LA; Coles J; Jackson CL; Barroso-Gil M; Green B; Walker WT; Thomas NS; Thompson J; Rock SA; Neatu R; Powell L; Molinari E; ; Wilson IJ; Cordell HJ; Olinger E; Miles CG; Sayer JA; Wheway G; Lucas JS
Clin Genet; 2023 Mar; 103(3):330-334. PubMed ID: 36273371
[TBL] [Abstract][Full Text] [Related]
18. Repurposing small molecules for nephronophthisis and related renal ciliopathies.
Benmerah A; Briseño-Roa L; Annereau JP; Saunier S
Kidney Int; 2023 Aug; 104(2):245-253. PubMed ID: 37244473
[TBL] [Abstract][Full Text] [Related]
19. Systematic evaluation of olfaction in patients with hereditary cystic kidney diseases/renal ciliopathies.
Dahmer-Heath M; Schriever V; Kollmann S; Schleithoff C; Titieni A; Cetiner M; Patzer L; Tönshoff B; Hansen M; Pennekamp P; Gerß J; Konrad M; König J
J Med Genet; 2021 Sep; 58(9):629-636. PubMed ID: 32917769
[TBL] [Abstract][Full Text] [Related]
20. Mutations in TTC21B cause different phenotypes in two childhood cases in China.
Zhang H; Su B; Liu X; Xiao H; Ding J; Yao Y
Nephrology (Carlton); 2018 Apr; 23(4):371-376. PubMed ID: 28124483
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
