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 *

504 related articles for article (PubMed ID: 24470203)

  • 21. EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway.
    Wu J; Yang Y; He Y; Li Q; Wang X; Sun C; Wang L; An Y; Luo F
    Hum Genomics; 2019 Dec; 13(1):63. PubMed ID: 31806011
    [TBL] [Abstract][Full Text] [Related]  

  • 22. A de novo start-loss in
    Kohailan M; Al-Saei O; Padmajeya S; Aamer W; Elbashir N; Al-Shabeeb Akil A; Kamboh AR; Fakhro K
    Cold Spring Harb Mol Case Stud; 2022 Jun; 8(4):. PubMed ID: 35732499
    [TBL] [Abstract][Full Text] [Related]  

  • 23. EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model.
    Deml B; Reis LM; Muheisen S; Bick D; Semina EV
    Birth Defects Res A Clin Mol Teratol; 2015 Jul; 103(7):630-40. PubMed ID: 26118977
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Mandibulofacial dysostosis with microcephaly: A case presenting with seizures.
    Matsuo M; Yamauchi A; Ito Y; Sakauchi M; Yamamoto T; Okamoto N; Tsurusaki Y; Miyake N; Matsumoto N; Saito K
    Brain Dev; 2017 Feb; 39(2):177-181. PubMed ID: 27670155
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Mandibulofacial dysostosis with microcephaly: a syndrome to remember.
    Silva JB; Soares D; Leão M; Santos H
    BMJ Case Rep; 2019 Aug; 12(8):. PubMed ID: 31413053
    [TBL] [Abstract][Full Text] [Related]  

  • 26. A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report.
    Jacob A; Pasquier J; Carapito R; Auradé F; Molitor A; Froguel P; Fakhro K; Halabi N; Viot G; Bahram S; Rafii A
    BMC Med Genet; 2020 Sep; 21(1):182. PubMed ID: 32943010
    [TBL] [Abstract][Full Text] [Related]  

  • 27. A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate.
    Guion-Almeida ML; Zechi-Ceide RM; Vendramini S; Ju Nior AT
    Clin Dysmorphol; 2006 Jul; 15(3):171-174. PubMed ID: 16760738
    [TBL] [Abstract][Full Text] [Related]  

  • 28. A novel EFTUD2 mutation identified an adult male with mandibulofacial dysostosis Guion-Almeida type.
    Narumi-Kishimoto Y; Ozawa H; Yanagi K; Kawai T; Okamura K; Hata K; Kaname T; Matsubara Y
    Clin Dysmorphol; 2020 Oct; 29(4):186-188. PubMed ID: 32541334
    [No Abstract]   [Full Text] [Related]  

  • 29. Whole-exome sequencing identified a variant in EFTUD2 gene in establishing a genetic diagnosis.
    Rengasamy Venugopalan S; Farrow EG; Lypka M
    Orthod Craniofac Res; 2017 Jun; 20 Suppl 1():50-56. PubMed ID: 28643921
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Disease modeling of core pre-mRNA splicing factor haploinsufficiency.
    Wood KA; Rowlands CF; Qureshi WMS; Thomas HB; Buczek WA; Briggs TA; Hubbard SJ; Hentges KE; Newman WG; O'Keefe RT
    Hum Mol Genet; 2019 Nov; 28(22):3704-3723. PubMed ID: 31304552
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Novel De Novo EFTUD2 Mutations in 2 Cases With MFDM, Initially Suspected to Have Alternative Craniofacial Diagnoses.
    Lacour JC; McBride L; St Hilaire H; Mundinger GS; Moses M; Koon J; Torres JI; Lacassie Y
    Cleft Palate Craniofac J; 2019 May; 56(5):674-678. PubMed ID: 30343593
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Phenotypic and Molecular Heterogeneity in Mandibulofacial Dysostoses: A Case Series From India.
    Shenoy RD; Shetty V; Dheedene A; Menten B; Pandyanda Nanjappa D; Chakraborty G; Sips P; de Paepe A; Callewaert B; Chakraborty A
    Cleft Palate Craniofac J; 2022 Nov; 59(11):1346-1351. PubMed ID: 34714179
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype.
    Paderova J; Drabova J; Holubova A; Vlckova M; Havlovicova M; Gregorova A; Pourova R; Romankova V; Moslerova V; Geryk J; Norambuena P; Krulisova V; Krepelova A; Macek M; Macek M
    Eur J Med Genet; 2018 Jun; 61(6):315-321. PubMed ID: 29307790
    [TBL] [Abstract][Full Text] [Related]  

  • 34. [Genetic analysis of a rare fetus with mandibulofacial dysostosis Guion-Almeida type].
    Yan L; Tian L; Cao J; Zhou B; Zhang Y; Liu Y; Han C; Li H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Aug; 38(8):791-794. PubMed ID: 34365627
    [TBL] [Abstract][Full Text] [Related]  

  • 35. First and second branchial arch involvement in mandibulofacial dysostosis Guion-Almeida type.
    Quinzi V; De Luca C; Giovannetti F; Splendiani A; Cocciadiferro D; Capolino R; Brancati F; Marzo G
    Eur J Paediatr Dent; 2023 Dec; 24(4):334-336. PubMed ID: 38015115
    [TBL] [Abstract][Full Text] [Related]  

  • 36. First-trimester detection of micrognathia as a presentation of mandibulofacial dysostosis with microcephaly.
    Xu BQ; Zhen L; Li DZ
    J Obstet Gynaecol; 2021 Jul; 41(5):821-823. PubMed ID: 32799722
    [No Abstract]   [Full Text] [Related]  

  • 37. Human facial dysostoses.
    Wieczorek D
    Clin Genet; 2013 Jun; 83(6):499-510. PubMed ID: 23565775
    [TBL] [Abstract][Full Text] [Related]  

  • 38. "Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype.
    Luquetti DV; Hing AV; Rieder MJ; Nickerson DA; Turner EH; Smith J; Park S; Cunningham ML
    Am J Med Genet A; 2013 Jan; 161A(1):108-13. PubMed ID: 23239648
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome.
    Wieczorek D; Gener B; González MJ; Seland S; Fischer S; Hehr U; Kuechler A; Hoefsloot LH; de Leeuw N; Gillessen-Kaesbach G; Lohmann DR
    Am J Med Genet A; 2009 May; 149A(5):837-43. PubMed ID: 19334086
    [TBL] [Abstract][Full Text] [Related]  

  • 40. [Clinical case analysis and literature review of mandibulofacial dysostosis with microcephaly syndrome].
    Li X; Hong M; Dai P; Yuan Y
    Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2022 Jan; 36(1):36-40. PubMed ID: 34979617
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 26.