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3. 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]
4. Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. Schmidts M; Vodopiutz J; Christou-Savina S; Cortés CR; McInerney-Leo AM; Emes RD; Arts HH; Tüysüz B; D'Silva J; Leo PJ; Giles TC; Oud MM; Harris JA; Koopmans M; Marshall M; Elçioglu N; Kuechler A; Bockenhauer D; Moore AT; Wilson LC; Janecke AR; Hurles ME; Emmet W; Gardiner B; Streubel B; Dopita B; Zankl A; Kayserili H; Scambler PJ; Brown MA; Beales PL; Wicking C; ; Duncan EL; Mitchison HM Am J Hum Genet; 2013 Nov; 93(5):932-44. PubMed ID: 24183451 [TBL] [Abstract][Full Text] [Related]
5. DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration. Vig A; Poulter JA; Ottaviani D; Tavares E; Toropova K; Tracewska AM; Mollica A; Kang J; Kehelwathugoda O; Paton T; Maynes JT; Wheway G; Arno G; ; Khan KN; McKibbin M; Toomes C; Ali M; Di Scipio M; Li S; Ellingford J; Black G; Webster A; Rydzanicz M; Stawiński P; Płoski R; Vincent A; Cheetham ME; Inglehearn CF; Roberts A; Heon E Genet Med; 2020 Dec; 22(12):2041-2051. PubMed ID: 32753734 [TBL] [Abstract][Full Text] [Related]
6. Whole-Exome Sequencing Identifies DYNC2H1 Mutations as a Cause of Jeune Asphyxiating Thoracic Dystrophy Without Extra-Skeletal Organ Involvement. Asseri AA; Alzoani AA; Almahdi M; Almahdi H; Almushayt N; Alyazidi NS; Al Mufarrih BM Int Med Case Rep J; 2024; 17():209-214. PubMed ID: 38550721 [TBL] [Abstract][Full Text] [Related]
7. Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. Schmidts M; Arts HH; Bongers EM; Yap Z; Oud MM; Antony D; Duijkers L; Emes RD; Stalker J; Yntema JB; Plagnol V; Hoischen A; Gilissen C; Forsythe E; Lausch E; Veltman JA; Roeleveld N; Superti-Furga A; Kutkowska-Kazmierczak A; Kamsteeg EJ; Elçioğlu N; van Maarle MC; Graul-Neumann LM; Devriendt K; Smithson SF; Wellesley D; Verbeek NE; Hennekam RC; Kayserili H; Scambler PJ; Beales PL; ; Knoers NV; Roepman R; Mitchison HM J Med Genet; 2013 May; 50(5):309-23. PubMed ID: 23456818 [TBL] [Abstract][Full Text] [Related]
8. Clinical genetics and pathobiology of ciliary chondrodysplasias. Schmidts M J Pediatr Genet; 2014 Nov; 3(2):46-94. PubMed ID: 25506500 [TBL] [Abstract][Full Text] [Related]
9. FAM111A mutations result in hypoparathyroidism and impaired skeletal development. Unger S; Górna MW; Le Béchec A; Do Vale-Pereira S; Bedeschi MF; Geiberger S; Grigelioniene G; Horemuzova E; Lalatta F; Lausch E; Magnani C; Nampoothiri S; Nishimura G; Petrella D; Rojas-Ringeling F; Utsunomiya A; Zabel B; Pradervand S; Harshman K; Campos-Xavier B; Bonafé L; Superti-Furga G; Stevenson B; Superti-Furga A Am J Hum Genet; 2013 Jun; 92(6):990-5. PubMed ID: 23684011 [TBL] [Abstract][Full Text] [Related]
10. Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies. McInerney-Leo AM; Harris JE; Leo PJ; Marshall MS; Gardiner B; Kinning E; Leong HY; McKenzie F; Ong WP; Vodopiutz J; Wicking C; Brown MA; Zankl A; Duncan EL Clin Genet; 2015 Dec; 88(6):550-7. PubMed ID: 25492405 [TBL] [Abstract][Full Text] [Related]
11. Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. Zhang W; Taylor SP; Ennis HA; Forlenza KN; Duran I; Li B; Sanchez JAO; Nevarez L; Nickerson DA; Bamshad M; ; Lachman RS; Krakow D; Cohn DH Hum Mutat; 2018 Jan; 39(1):152-166. PubMed ID: 29068549 [TBL] [Abstract][Full Text] [Related]
12. WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia. Huber C; Wu S; Kim AS; Sigaudy S; Sarukhanov A; Serre V; Baujat G; Le Quan Sang KH; Rimoin DL; Cohn DH; Munnich A; Krakow D; Cormier-Daire V Am J Hum Genet; 2013 Nov; 93(5):926-31. PubMed ID: 24183449 [TBL] [Abstract][Full Text] [Related]
13. Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60. McInerney-Leo AM; Schmidts M; Cortés CR; Leo PJ; Gener B; Courtney AD; Gardiner B; Harris JA; Lu Y; Marshall M; ; Scambler PJ; Beales PL; Brown MA; Zankl A; Mitchison HM; Duncan EL; Wicking C Am J Hum Genet; 2013 Sep; 93(3):515-23. PubMed ID: 23910462 [TBL] [Abstract][Full Text] [Related]
14. A mutation in the amino-terminal end of the triple helix of type II collagen causing severe osteochondrodysplasia. Vikkula M; Ritvaniemi P; Vuorio AF; Kaitila I; Ala-Kokko L; Peltonen L Genomics; 1993 Apr; 16(1):282-5. PubMed ID: 8486375 [TBL] [Abstract][Full Text] [Related]
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