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 *

119 related articles for article (PubMed ID: 30767363)

  • 1. Mutations in IFT80 cause SRPS Type IV. Report of two families and review.
    Bizaoui V; Huber C; Kohaut E; Roume J; Bonnière M; Attié-Bitach T; Cormier-Daire V
    Am J Med Genet A; 2019 Apr; 179(4):639-644. PubMed ID: 30767363
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum.
    Cavalcanti DP; Huber C; Sang KH; Baujat G; Collins F; Delezoide AL; Dagoneau N; Le Merrer M; Martinovic J; Mello MF; Vekemans M; Munnich A; Cormier-Daire V
    J Med Genet; 2011 Feb; 48(2):88-92. PubMed ID: 19648123
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. Whole-exome sequencing identified two novel mutations of DYNC2LI1 in fetal skeletal ciliopathy.
    Zhang X; You Y; Xie X; Xu H; Zhou H; Lei Y; Sun P; Meng Y; Wang L; Lu Y
    Mol Genet Genomic Med; 2020 Dec; 8(12):e1524. PubMed ID: 33030252
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. De novo 17q paracentric inversion mosaicism in a patient with Beemer-Langer type short rib-polydactyly syndrome with special consideration to the classification of short rib polydactyly syndromes.
    Chen H; Mirkin D; Yang S
    Am J Med Genet; 1994 Nov; 53(2):165-71. PubMed ID: 7856642
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes.
    al-Gazali LI; Sztriha L; Dawodu A; Varady E; Bakir M; Khdir A; Johansen J
    J Med Genet; 1999 Jun; 36(6):461-6. PubMed ID: 10874634
    [TBL] [Abstract][Full Text] [Related]  

  • 12. IFT80 mutations cause a novel complex ciliopathy phenotype with retinal degeneration.
    Moran J; G Sanderson K; Maynes J; Vig A; Batmanabane V; Kannu P; Tavares E; Vincent A; Héon E
    Clin Genet; 2018 Oct; 94(3-4):368-372. PubMed ID: 29923190
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Further delineation of the Beemer-Langer syndrome using concordance rates in affected sibs.
    Lurie IW
    Am J Med Genet; 1994 May; 50(4):313-7. PubMed ID: 8209908
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Short rib-polydactyly syndrome type II (Majewski): prenatal diagnosis, perinatal imaging findings and molecular analysis of the NEK1 gene.
    Chen CP; Chang TY; Chen CY; Wang TY; Tsai FJ; Wu PC; Chern SR; Wang W
    Taiwan J Obstet Gynecol; 2012 Mar; 51(1):100-5. PubMed ID: 22482978
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Overlap between Majewski and hydrolethalus syndromes: a report of two cases.
    Sharma AK; Phadke S; Chandra K; Upreti M; Khan EM; Naveed M; Agarwal SS
    Am J Med Genet; 1992 Aug; 43(6):949-53. PubMed ID: 1415345
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. Diagnosis of short rib polydactyly syndrome type IV (Beemer-Langer syndrome) with cystic hygroma: A case report.
    Taori KB; Sharbidre KG; Krishnan V; Kundargi N; Kulkarni BR; Satkar V; Bopche S
    J Clin Ultrasound; 2009 Sep; 37(7):406-9. PubMed ID: 19475553
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Short-rib polydactyly syndrome, Beemer-Langer type, with bilateral huge polycystic renal dysplasia: an autopsy case.
    Myong NH; Park JW; Chi JG
    J Korean Med Sci; 1998 Apr; 13(2):201-6. PubMed ID: 9610623
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Short rib syndrome Beemer-Langer type, a short history.
    Beemer FA
    Am J Med Genet A; 2018 Jan; 176(1):248-249. PubMed ID: 29130631
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 6.