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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

275 related articles for article (PubMed ID: 19442771)

  • 1. 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. PubMed ID: 19442771
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; ; Bamshad M; Nickerson D; Cohn DH; Krakow D
    Clin Genet; 2017 Aug; 92(2):158-165. PubMed ID: 27925158
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 93(5):926-31. PubMed ID: 24183449
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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. PubMed ID: 25410398
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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. PubMed ID: 19361615
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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. PubMed ID: 22499340
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families.
    Baujat G; Huber C; El Hokayem J; Caumes R; Do Ngoc Thanh C; David A; Delezoide AL; Dieux-Coeslier A; Estournet B; Francannet C; Kayirangwa H; Lacaille F; Le Bourgeois M; Martinovic J; Salomon R; Sigaudy S; Malan V; Munnich A; Le Merrer M; Le Quan Sang KH; Cormier-Daire V
    J Med Genet; 2013 Feb; 50(2):91-8. PubMed ID: 23339108
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Compound heterozygous variants in DYNC2H1 in a foetus with type III short rib-polydactyly syndrome and situs inversus totalis.
    Cheng C; Li X; Zhao S; Feng Q; Ren X; Chen X
    BMC Med Genomics; 2022 Mar; 15(1):55. PubMed ID: 35277174
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations in DYNC2H1 in a fetus.
    Chen CP; Ko TM; Chang TY; Chern SR; Chen SW; Lai ST; Chuang TY; Wang W
    Taiwan J Obstet Gynecol; 2018 Feb; 57(1):123-127. PubMed ID: 29458881
    [TBL] [Abstract][Full Text] [Related]  

  • 10. An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia.
    Rix S; Calmont A; Scambler PJ; Beales PL
    Hum Mol Genet; 2011 Apr; 20(7):1306-14. PubMed ID: 21227999
    [TBL] [Abstract][Full Text] [Related]  

  • 11. New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy.
    Cossu C; Incani F; Serra ML; Coiana A; Crisponi G; Boccone L; Rosatelli MC
    Clin Chim Acta; 2016 Apr; 455():172-80. PubMed ID: 26874042
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 447():47-51. PubMed ID: 25982780
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes.
    Krakow D; Salazar D; Wilcox WR; Rimoin DL; Cohn DH
    Eur J Hum Genet; 2000 Aug; 8(8):645-8. PubMed ID: 10951528
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Characterization of a novel deep-intronic variant in
    Buchh M; Gillespie PJ; Treat K; Abreu MA; Schwantes-An TL; Helm BM; Fang F; Xuei X; Mantcheva L; Suhrie KR; Graham BH; Conboy E; Vetrini F
    Cold Spring Harb Mol Case Stud; 2022 Dec; 8(7):. PubMed ID: 36442996
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Family analysis of a child with Short-rib polydactyly syndrome type III due to variant of DYNC2H1 gene].
    Zhao H; Li L; Liu R; Yang X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Aug; 39(8):881-883. PubMed ID: 35929941
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Targeted gene panel sequencing prenatally detects two novel mutations of DYNC2H1 in a fetus with increased biparietal diameter and polyhydramnios.
    Deng L; Cheung SW; Schmitt ES; Xiong S; Yuan M; Chen Z; Chen L; Sun L
    Birth Defects Res; 2018 Mar; 110(4):364-371. PubMed ID: 29359448
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in
    Stembalska A; Rydzanicz M; Klaniewska M; Dudarewicz L; Pollak A; Biela M; Stawinski P; Ploski R; Smigiel R
    Genes (Basel); 2022 Jul; 13(8):. PubMed ID: 35893076
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 15(2):. PubMed ID: 27323140
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clinical insights and molecular study of three foetuses with DYNC2H1 gene mutation causing short rib thoracic dystrophy.
    Thakur S; Gupta R; Bansal D; Singh C; Agarwal D; Saxena KK
    Clin Genet; 2021 Jun; 99(6):853-854. PubMed ID: 33694158
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 14.