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Items: 1 to 20 of 94

1.

Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome.

Merrill AE, Merriman B, Farrington-Rock C, Camacho N, Sebald ET, Funari VA, Schibler MJ, Firestein MH, Cohn ZA, Priore MA, Thompson AK, Rimoin DL, Nelson SF, Cohn DH, Krakow D.

Am J Hum Genet. 2009 Apr;84(4):542-9. doi: 10.1016/j.ajhg.2009.03.015.

2.

DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.

Dagoneau N, Goulet M, Geneviève D, Sznajer Y, Martinovic J, Smithson S, Huber C, Baujat G, Flori E, Tecco L, Cavalcanti D, Delezoide AL, Serre V, Le Merrer M, Munnich A, Cormier-Daire V.

Am J Hum Genet. 2009 May;84(5):706-11. doi: 10.1016/j.ajhg.2009.04.016.

3.

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 7;93(5):926-31. doi: 10.1016/j.ajhg.2013.10.007. Epub 2013 Oct 31.

4.

NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.

El Hokayem J, Huber C, Couvé A, Aziza J, Baujat G, Bouvier R, Cavalcanti DP, Collins FA, Cordier MP, Delezoide AL, Gonzales M, Johnson D, Le Merrer M, Levy-Mozziconacci A, Loget P, Martin-Coignard D, Martinovic J, Mortier GR, Perez MJ, Roume J, Scarano G, Munnich A, Cormier-Daire V.

J Med Genet. 2012 Apr;49(4):227-33. doi: 10.1136/jmedgenet-2011-100717.

PMID:
22499340
5.

Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.

Mill P, Lockhart PJ, Fitzpatrick E, Mountford HS, Hall EA, Reijns MA, Keighren M, Bahlo M, Bromhead CJ, Budd P, Aftimos S, Delatycki MB, Savarirayan R, Jackson IJ, Amor DJ.

Am J Hum Genet. 2011 Apr 8;88(4):508-15. doi: 10.1016/j.ajhg.2011.03.015.

6.

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; UK10K Consortium, Scambler PJ, Beales PL, Brown MA, Zankl A, Mitchison HM, Duncan EL, Wicking C.

Am J Hum Genet. 2013 Sep 5;93(3):515-23. doi: 10.1016/j.ajhg.2013.06.022. Epub 2013 Aug 1.

7.

Novel compound heterozygous mutations in DYNC2H1 in a patient with severe short-rib polydactyly syndrome type III phenotype.

Okamoto T, Nagaya K, Kawata Y, Asai H, Tsuchida E, Nohara F, Okajima K, Azuma H.

Congenit Anom (Kyoto). 2015 Aug;55(3):155-7. doi: 10.1111/cga.12098.

PMID:
25410398
8.

Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.

Taylor SP, Dantas TJ, Duran I, Wu S, Lachman RS; University of Washington Center for Mendelian Genomics Consortium, Nelson SF, Cohn DH, Vallee RB, Krakow D.

Nat Commun. 2015 Jun 16;6:7092. doi: 10.1038/ncomms8092.

9.

Identification of novel DYNC2H1 mutations associated with short rib-polydactyly syndrome type III using next-generation panel sequencing.

Chen LS, Shi SJ, Zou PS, Ma M, Chen XH, Cao DH.

Genet Mol Res. 2016 Jun 3;15(2). doi: 10.4238/gmr.15028134.

10.

An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome.

Paige Taylor S, Kunova Bosakova M, Varecha M, Balek L, Barta T, Trantirek L, Jelinkova I, Duran I, Vesela I, Forlenza KN, Martin JH, Hampl A; University of Washington Center for Mendelian Genomics, Bamshad M, Nickerson D, Jaworski ML, Song J, Ko HW, Cohn DH, Krakow D, Krejci P.

Hum Mol Genet. 2016 Sep 15;25(18):3998-4011. doi: 10.1093/hmg/ddw240. Epub 2016 Jul 27.

PMID:
27466187
11.

Targeted next-generation sequencing identifies novel compound heterozygous mutations of DYNC2H1 in a fetus with short rib-polydactyly syndrome, type III.

Mei L, Huang Y, Pan Q, Su W, Quan Y, Liang D, Wu L.

Clin Chim Acta. 2015 Jul 20;447:47-51. doi: 10.1016/j.cca.2015.05.005. Epub 2015 May 14.

PMID:
25982780
12.

NEK1 mutations cause short-rib polydactyly syndrome type majewski.

Thiel C, Kessler K, Giessl A, Dimmler A, Shalev SA, von der Haar S, Zenker M, Zahnleiter D, Stöss H, Beinder E, Abou Jamra R, Ekici AB, Schröder-Kress N, Aigner T, Kirchner T, Reis A, Brandstätter JH, Rauch A.

Am J Hum Genet. 2011 Jan 7;88(1):106-14. doi: 10.1016/j.ajhg.2010.12.004.

13.

Tctex1d2 associates with short-rib polydactyly syndrome proteins and is required for ciliogenesis.

Gholkar AA, Senese S, Lo YC, Capri J, Deardorff WJ, Dharmarajan H, Contreras E, Hodara E, Whitelegge JP, Jackson PK, Torres JZ.

Cell Cycle. 2015;14(7):1116-25. doi: 10.4161/15384101.2014.985066.

14.

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.

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17.

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.

Bredrup C, Saunier S, Oud MM, Fiskerstrand T, Hoischen A, Brackman D, Leh SM, Midtbø M, Filhol E, Bole-Feysot C, Nitschké P, Gilissen C, Haugen OH, Sanders JS, Stolte-Dijkstra I, Mans DA, Steenbergen EJ, Hamel BC, Matignon M, Pfundt R, Jeanpierre C, Boman H, Rødahl E, Veltman JA, Knappskog PM, Knoers NV, Roepman R, Arts HH.

Am J Hum Genet. 2011 Nov 11;89(5):634-43. doi: 10.1016/j.ajhg.2011.10.001. Epub 2011 Oct 20.

18.

Perinatally lethal short rib-polydactyly syndromes. 1. Variability in known syndromes.

Sillence D, Kozlowski K, Bar-ziv J, Fuhrumann-Rieger A, Fuhrmann W, Pascu F.

Pediatr Radiol. 1987;17(6):474-80.

PMID:
3684360
19.

DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects.

Kessler K, Wunderlich I, Uebe S, Falk NS, Gießl A, Brandstätter JH, Popp B, Klinger P, Ekici AB, Sticht H, Dörr HG, Reis A, Roepman R, Seemanová E, Thiel CT.

Sci Rep. 2015 Jul 1;5:11649. doi: 10.1038/srep11649.

20.

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; UK10K, Knoers NV, Roepman R, Mitchison HM.

J Med Genet. 2013 May;50(5):309-23. doi: 10.1136/jmedgenet-2012-101284. Epub 2013 Mar 1.

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