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Items: 1 to 20 of 79


Down-regulated WDR35 contributes to fetal anomaly via regulation of osteogenic differentiation.

Hu Z, Hong S, Zhang Y, Dai H, Lin S, Yi T, Zhuang H.

Gene. 2019 May 20;697:48-56. doi: 10.1016/j.gene.2019.02.034. Epub 2019 Feb 18.


IFT80 Improves Invasion Ability in Gastric Cancer Cell Line via ift80/p75NGFR/MMP9 Signaling.

Wang R, Deng X, Yuan C, Xin H, Liu G, Zhu Y, Jiang X, Wang C.

Int J Mol Sci. 2018 Nov 16;19(11). pii: E3616. doi: 10.3390/ijms19113616.


Dynein-2 intermediate chains play crucial but distinct roles in primary cilia formation and function.

Vuolo L, Stevenson NL, Heesom KJ, Stephens DJ.

Elife. 2018 Oct 16;7. pii: e39655. doi: 10.7554/eLife.39655.


Anesthetic management of an infant with Jeune syndrome and severe pulmonary hypertension for tracheostomy.

Salik I, Genis A, Barst S.

J Clin Anesth. 2019 Feb;52:76-77. doi: 10.1016/j.jclinane.2018.09.018. Epub 2018 Sep 12. No abstract available.


Extracorporeal membrane oxygenation support in individuals with thoracic insufficiency.

Hancock S, Froehlich C, Armijo-Garcia V, Meyer AD.

Perfusion. 2018 Nov;33(8):696-698. doi: 10.1177/0267659118778173. Epub 2018 May 23.


A novel Cep120-dependent mechanism inhibits centriole maturation in quiescent cells.

Betleja E, Nanjundappa R, Cheng T, Mahjoub MR.

Elife. 2018 May 9;7. pii: e35439. doi: 10.7554/eLife.35439.


Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies.

Kakar N, Horn D, Decker E, Sowada N, Kubisch C, Ahmad J, Borck G, Bergmann C.

Am J Med Genet A. 2018 Feb;176(2):438-442. doi: 10.1002/ajmg.a.38562. Epub 2017 Dec 22.


Identification of a c.544C>T mutation in WDR34 as a deleterious recessive allele of short rib-polydactyly syndrome.

You SH, Lee YS, Lee CP, Lin CP, Lin CY, Tsai CL, Chang YL, Cheng PJ, Wang TH, Chang SD.

Taiwan J Obstet Gynecol. 2017 Dec;56(6):857-862. doi: 10.1016/j.tjog.2017.10.033. Erratum in: Taiwan J Obstet Gynecol. 2018 Aug;57(4):621.


Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies.

Ryan R, Failler M, Reilly ML, Garfa-Traore M, Delous M, Filhol E, Reboul T, Bole-Feysot C, Nitschké P, Baudouin V, Amselem S, Escudier E, Legendre M, Benmerah A, Saunier S.

Hum Mol Genet. 2018 Jan 15;27(2):266-282. doi: 10.1093/hmg/ddx396.


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; University of Washington Center for Mendelian Genomics, Lachman RS, Krakow D, Cohn DH.

Hum Mutat. 2018 Jan;39(1):152-166. doi: 10.1002/humu.23362. Epub 2017 Nov 6.


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. doi: 10.1016/j.ejmg.2017.08.019. Epub 2017 Sep 12. Review.


Variable expressivity of TCTEX1D2 mutations and a possible pathogenic link of molar-incisor malformation to ciliary dysfunction.

Zschocke J, Schossig A, Bosshardt DD, Karall D, Glueckert R, Kapferer-Seebacher I.

Arch Oral Biol. 2017 Aug;80:222-228. doi: 10.1016/j.archoralbio.2017.04.009. Epub 2017 Apr 20.


Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.

McInerney-Leo AM, Wheeler L, Marshall MS, Anderson LK, Zankl A, Brown MA, Leo PJ, Wicking C, Duncan EL.

Am J Med Genet A. 2017 Jun;173(6):1698-1704. doi: 10.1002/ajmg.a.38215. Epub 2017 Apr 19.


DYNC2H1 mutation causes Jeune syndrome and recurrent lung infections associated with ciliopathy.

Emiralioglu N, Wallmeier J, Olbrich H, Omran H, Ozcelik U.

Clin Respir J. 2018 Mar;12(3):1017-1020. doi: 10.1111/crj.12620. Epub 2017 Mar 12.


Anesthetic Management of a Child With Jeune Syndrome for Tracheotomy: A Case Report.

Kotoda M, Ishiyama T, Okuyama K, Matsukawa T.

A A Case Rep. 2017 Mar 1;8(5):119-121. doi: 10.1213/XAA.0000000000000444.


Effective Neurally Adjusted Ventilatory Assist (NAVA) Ventilation in a Child With Jeune Syndrome.

Cosi G, Genoni G, Monzani A, Pilan B, Lavrano M, Ferrero F.

Pediatrics. 2016 Nov;138(5). pii: e20160709.


Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type.

Badiner N, Taylor SP, Forlenza K, Lachman RS; University of Washington Center for Mendelian Genomics, Bamshad M, Nickerson D, Cohn DH, Krakow D.

Clin Genet. 2017 Aug;92(2):158-165. doi: 10.1111/cge.12947. Epub 2017 Mar 13.


Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy.

Peña-Padilla C, Marshall CR, Walker S, Scherer SW, Tavares-Macías G, Razo-Jiménez G, Bobadilla-Morales L, Acosta-Fernández E, Corona-Rivera A, Mendoza-Londono R, Corona-Rivera JR.

Clin Genet. 2017 Apr;91(4):640-646. doi: 10.1111/cge.12924. Epub 2017 Feb 16.


Hypertrophic cardiomyopathy with Jeune syndrome: The first reported case.

Güvenç O, Sündüs Uygun S, Çimen D, Aslan E, Annagür A.

Turk Kardiyol Dern Ars. 2016 Sep;44(6):503-6. doi: 10.5543/tkda.2015.29677.


Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.

Roosing S, Romani M, Isrie M, Rosti RO, Micalizzi A, Musaev D, Mazza T, Al-Gazali L, Altunoglu U, Boltshauser E, D'Arrigo S, De Keersmaecker B, Kayserili H, Brandenberger S, Kraoua I, Mark PR, McKanna T, Van Keirsbilck J, Moerman P, Poretti A, Puri R, Van Esch H, Gleeson JG, Valente EM.

J Med Genet. 2016 Sep;53(9):608-15. doi: 10.1136/jmedgenet-2016-103832. Epub 2016 May 6.

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