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.
98 related articles for article (PubMed ID: 23826986)
1. Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss. Tsurusaki Y; Yonezawa R; Furuya M; Nishimura G; Pooh RK; Nakashima M; Saitsu H; Miyake N; Saito S; Matsumoto N Clin Genet; 2014 Jun; 85(6):592-4. PubMed ID: 23826986 [No Abstract] [Full Text] [Related]
2. The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations. Bayat A; Kerr B; Douzgou S; Clin Dysmorphol; 2017 Oct; 26(4):247-251. PubMed ID: 28288023 [No Abstract] [Full Text] [Related]
3. Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum. Moosa S; Obregon MG; Altmüller J; Thiele H; Nürnberg P; Fano V; Wollnik B Am J Med Genet A; 2016 May; 170A(5):1295-301. PubMed ID: 26792575 [TBL] [Abstract][Full Text] [Related]
4. A novel variant in IFT122 associated with a severe phenotype of cranioectodermal dysplasia. Nagayama S; Takahashi H; Hasegawa F; Hori A; Kizami S; Furukawa R; Horie K; Ogoyama M; Hata K; Fujiwara H Congenit Anom (Kyoto); 2024 Jul; 64(4):177-181. PubMed ID: 38637985 [TBL] [Abstract][Full Text] [Related]
5. Uncommon runs of homozygosity disclose homozygous missense mutations in two ciliopathy-related genes (SPAG17 and WDR35) in a patient with multiple brain and skeletal anomalies. Córdova-Fletes C; Becerra-Solano LE; Rangel-Sosa MM; Rivas-Estilla AM; Alberto Galán-Huerta K; Ortiz-López R; Rojas-Martínez A; Juárez-Vázquez CI; García-Ortiz JE Eur J Med Genet; 2018 Mar; 61(3):161-167. PubMed ID: 29174089 [TBL] [Abstract][Full Text] [Related]
7. Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122. Silveira KC; Moreno CA; Cavalcanti DP Am J Med Genet A; 2017 May; 173(5):1186-1189. PubMed ID: 28370949 [TBL] [Abstract][Full Text] [Related]
8. Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35. Walczak-Sztulpa J; Wawrocka A; Leszczynska B; Mikulska B; Arts HH; Bukowska-Olech E; Daniel M; Krawczynski MR; Latos-Bielenska A; Obersztyn E Am J Med Genet A; 2020 Oct; 182(10):2417-2425. PubMed ID: 32804427 [TBL] [Abstract][Full Text] [Related]
9. Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations. Walczak-Sztulpa J; Wawrocka A; Sobierajewicz A; Kuszel L; Zawadzki J; Grenda R; Swiader-Lesniak A; Kocyla-Karczmarewicz B; Wnuk A; Latos-Bielenska A; Chrzanowska KH Am J Med Genet A; 2017 May; 173(5):1364-1368. PubMed ID: 28332779 [TBL] [Abstract][Full Text] [Related]
10. Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature. Antony D; Nampoory N; Bacchelli C; Melhem M; Wu K; James CT; Beales PL; Hubank M; Thomas D; Mashankar A; Behbehani K; Schmidts M; Alsmadi O Eur J Med Genet; 2017 Dec; 60(12):658-666. PubMed ID: 28870638 [TBL] [Abstract][Full Text] [Related]
11. Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. Halbritter J; Bizet AA; Schmidts M; Porath JD; Braun DA; Gee HY; McInerney-Leo AM; Krug P; Filhol E; Davis EE; Airik R; Czarnecki PG; Lehman AM; Trnka P; Nitschké P; Bole-Feysot C; Schueler M; Knebelmann B; Burtey S; Szabó AJ; Tory K; Leo PJ; Gardiner B; McKenzie FA; Zankl A; Brown MA; Hartley JL; Maher ER; Li C; Leroux MR; Scambler PJ; Zhan SH; Jones SJ; Kayserili H; Tuysuz B; Moorani KN; Constantinescu A; Krantz ID; Kaplan BS; Shah JV; ; Hurd TW; Doherty D; Katsanis N; Duncan EL; Otto EA; Beales PL; Mitchison HM; Saunier S; Hildebrandt F Am J Hum Genet; 2013 Nov; 93(5):915-25. PubMed ID: 24140113 [TBL] [Abstract][Full Text] [Related]
12. Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia. Li Y; Garrod AS; Madan-Khetarpal S; Sreedher G; McGuire M; Yagi H; Klena NT; Gabriel GC; Khalifa O; Zahid M; Panigrahy A; Weiner DJ; Lo CW Am J Med Genet A; 2015 Sep; 167A(9):2188-96. PubMed ID: 25914204 [TBL] [Abstract][Full Text] [Related]
13. A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy. Girisha KM; Shukla A; Trujillano D; Bhavani GS; Hebbar M; Kadavigere R; Rolfs A Clin Genet; 2016 Dec; 90(6):536-539. PubMed ID: 26880018 [TBL] [Abstract][Full Text] [Related]
14. WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype. Bacino CA; Dhar SU; Brunetti-Pierri N; Lee B; Bonnen PE Am J Med Genet A; 2012 Nov; 158A(11):2917-24. PubMed ID: 22987818 [TBL] [Abstract][Full Text] [Related]
15. Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35. Walczak-Sztulpa J; Wawrocka A; Stańczyk M; Pesz K; Dudarewicz L; Chrul S; Bukowska-Olech E; Wieczorek-Cichecka N; Arts HH; Oud MM; Śmigiel R; Grenda R; Obersztyn E; Chrzanowska KH; Latos-Bieleńska A Am J Med Genet A; 2021 Apr; 185(4):1195-1203. PubMed ID: 33421337 [TBL] [Abstract][Full Text] [Related]
16. 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]
17. Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations. Walczak-Sztulpa J; Wawrocka A; Swiader-Lesniak A; Socha M; Jamsheer A; Drozdz D; Latos-Bielenska A; Zachwieja K Birth Defects Res; 2018 Mar; 110(4):376-381. PubMed ID: 29134781 [TBL] [Abstract][Full Text] [Related]
18. A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35. Smith C; Lamont RE; Wade A; Bernier FP; Parboosingh JS; Innes AM Am J Med Genet A; 2016 Mar; 170(3):760-5. PubMed ID: 26691894 [TBL] [Abstract][Full Text] [Related]
19. [Clinical features and mutational analysis of a case with Sensenbrenner syndrome]. Jia S; Yang J; He T; Li W; Luo X; Huang Y; Li C Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Jun; 35(3):426-428. PubMed ID: 29896747 [TBL] [Abstract][Full Text] [Related]
20. Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease. Getwan M; Hoppmann A; Schlosser P; Grand K; Song W; Diehl R; Schroda S; Heeg F; Deutsch K; Hildebrandt F; Lausch E; Köttgen A; Lienkamp SS Proc Natl Acad Sci U S A; 2021 Sep; 118(39):. PubMed ID: 34548398 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]