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 *

165 related articles for article (PubMed ID: 36538006)

  • 1. Compound heterozygous splicing variants in KIAA0586 cause fetal short-rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis.
    Zhao Q; Xu B; Xiang Q; Tan Y; Xie H; Gao Q; Wen L; Wang H; Yang M; Liu S
    Mol Genet Genomic Med; 2023 Mar; 11(3):e2124. PubMed ID: 36538006
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting.
    Peng Y; Zhou L; Chen J; Huang X; Pang J; Liu J; Tang W; Yang S; Liang C; Xie W
    BMC Med Genomics; 2023 Dec; 16(1):318. PubMed ID: 38062428
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of
    Fang Y; Li S; Yu D
    Front Genet; 2023; 14():1075187. PubMed ID: 37007936
    [No Abstract]   [Full Text] [Related]  

  • 9. [Genetic analysis of two families with Short-rib thoracic dysplasia type 3].
    Guan X; Mi H; Li S; Cao Y; Gao J; Zhu X; Zhao X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Nov; 40(11):1350-1355. PubMed ID: 37906140
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Diagnosis of a fetus with atelosteogenesis type 2 through combined prenatal ultrasonography and whole exome sequencing].
    Li J; Meng Y; Li M; Liu C; Li-Ling J; Lyu Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Jul; 37(7):767-770. PubMed ID: 32619261
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Prenatal phenotype and genetic analysis of a fetus with Fibrochondrogenesis 1 due to compound heterozygous variants of COL11A1 gene].
    Wu J; Lyu Y; Xyu S; Wang X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 May; 41(5):601-605. PubMed ID: 38684309
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Identification of novel compound heterozygous mutations of the
    Geng K; Mu K; Zhao Y; Luan J; Cui Y; Han J
    Intractable Rare Dis Res; 2020 May; 9(2):95-98. PubMed ID: 32494556
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Expanding the Phenotypic Spectrum of Pathogenic
    Deconte D; Diniz BL; Hartmann JK; de Souza MA; Zottis LFF; Zen PRG; Rosa RFM; Fiegenbaum M
    Int J Mol Sci; 2024 Jul; 25(14):. PubMed ID: 39063141
    [No Abstract]   [Full Text] [Related]  

  • 14. Non-classic splicing mutation in the CPLANE1 (C5orf42) gene cause Joubert syndrome in a fetus with severe craniocerebral dysplasia.
    Zhu H; Chen W; Ren H; Zhang Y; Niu Y; Wu D; Jiang L
    Eur J Med Genet; 2021 Jun; 64(6):104212. PubMed ID: 33794348
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Whole exome sequencing, clinical exome or targeted gene panels: what to choose for suspected lethal skeletal dysplasia (short rib thoracic dysplasia type IV).
    Das S; Sharma C; Gothwal M; Tada N
    BMJ Case Rep; 2022 Sep; 15(9):. PubMed ID: 36123010
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature review.
    Cocciadiferro D; Agolini E; Digilio MC; Sinibaldi L; Castori M; Silvestri E; Dotta A; Dallapiccola B; Novelli A
    Medicine (Baltimore); 2020 Feb; 99(8):e19169. PubMed ID: 32080096
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes.
    Al-Hamed MH; Kurdi W; Khan R; Tulbah M; AlNemer M; AlSahan N; AlMugbel M; Rafiullah R; Assoum M; Monies D; Shah Z; Rahbeeni Z; Derar N; Hakami F; Almutairi G; AlOtaibi A; Ali W; AlShammasi A; AlMubarak W; AlDawoud S; AlAmri S; Saeed B; Bukhari H; Ali M; Akili R; Alquayt L; Hagos S; Elbardisy H; Akilan A; Almuhana N; AlKhalifah A; Abouelhoda M; Ramzan K; Sayer JA; Imtiaz F
    Hum Genet; 2022 Jan; 141(1):101-126. PubMed ID: 34853893
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Early prenatal diagnosis of a recurrent case of short-rib thoracic dysplasia 3 due to compound heterozygosity for variations in the DYNC2H1 gene: an "ultrasound first" approach.
    Fontana P; Agolini E; Cocciadiferro D; Mazzarelli LL; Di Meglio A; Novelli A; Scarano G; Lombardi C; Ciavarella M; Lonardo F
    J Matern Fetal Neonatal Med; 2023 Dec; 36(1):2205985. PubMed ID: 37100787
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes.
    Malicdan MC; Vilboux T; Stephen J; Maglic D; Mian L; Konzman D; Guo J; Yildirimli D; Bryant J; Fischer R; Zein WM; Snow J; Vemulapalli M; Mullikin JC; Toro C; Solomon BD; Niederhuber JE; ; Gahl WA; Gunay-Aygun M
    J Med Genet; 2015 Dec; 52(12):830-9. PubMed ID: 26386044
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndrome.
    Shen Y; Lu C; Cheng T; Cao Z; Chen C; Ma X; Gao H; Luo M
    BMC Med Genomics; 2023 Jan; 16(1):4. PubMed ID: 36635699
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.