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 *

288 related articles for article (PubMed ID: 22305528)

  • 21. 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]  

  • 22. [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]  

  • 23. "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]  

  • 24. A review of craniofacial disorders caused by spliceosomal defects.
    Lehalle D; Wieczorek D; Zechi-Ceide RM; Passos-Bueno MR; Lyonnet S; Amiel J; Gordon CT
    Clin Genet; 2015 Nov; 88(5):405-15. PubMed ID: 25865758
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.
    Voigt C; Mégarbané A; Neveling K; Czeschik JC; Albrecht B; Callewaert B; von Deimling F; Hehr A; Falkenberg Smeland M; König R; Kuechler A; Marcelis C; Puiu M; Reardon W; Riise Stensland HM; Schweiger B; Steehouwer M; Teller C; Martin M; Rahmann S; Hehr U; Brunner HG; Lüdecke HJ; Wieczorek D
    Orphanet J Rare Dis; 2013 Jul; 8():110. PubMed ID: 23879989
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children.
    Yu KPT; Luk HM; Gordon CT; Fung G; Oufadem M; Garcia-Barcelo MM; Amiel J; Chung BHY; Lo IFM; Tiong YT
    Clin Dysmorphol; 2018 Apr; 27(2):31-35. PubMed ID: 29381487
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. Novel Splice Site Pathogenic Variant of
    Kim SY; Lee DH; Han JH; Choi BY
    Diagnostics (Basel); 2020 May; 10(5):. PubMed ID: 32408545
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum.
    Güleray N; Koşukcu C; Oğuz S; Ürel Demir G; Taşkıran EZ; Kiper PÖŞ; Utine GE; Alanay Y; Boduroğlu K; Alikaşifoğlu M
    Cleft Palate Craniofac J; 2022 Sep; 59(9):1114-1124. PubMed ID: 34410171
    [TBL] [Abstract][Full Text] [Related]  

  • 32. The Genetics Journey: A Case Report of a Genetic Diagnosis Made 30 Years Later.
    Williams LA; Quinonez SC; Uhlmann WR
    J Genet Couns; 2017 Oct; 26(5):894-901. PubMed ID: 28612151
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.
    Bernier FP; Caluseriu O; Ng S; Schwartzentruber J; Buckingham KJ; Innes AM; Jabs EW; Innis JW; Schuette JL; Gorski JL; Byers PH; Andelfinger G; Siu V; Lauzon J; Fernandez BA; McMillin M; Scott RH; Racher H; ; Majewski J; Nickerson DA; Shendure J; Bamshad MJ; Parboosingh JS
    Am J Hum Genet; 2012 May; 90(5):925-33. PubMed ID: 22541558
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.
    Wieczorek D; Newman WG; Wieland T; Berulava T; Kaffe M; Falkenstein D; Beetz C; Graf E; Schwarzmayr T; Douzgou S; Clayton-Smith J; Daly SB; Williams SG; Bhaskar SS; Urquhart JE; Anderson B; O'Sullivan J; Boute O; Gundlach J; Czeschik JC; van Essen AJ; Hazan F; Park S; Hing A; Kuechler A; Lohmann DR; Ludwig KU; Mangold E; Steenpaß L; Zeschnigk M; Lemke JR; Lourenco CM; Hehr U; Prott EC; Waldenberger M; Böhmer AC; Horsthemke B; O'Keefe RT; Meitinger T; Burn J; Lüdecke HJ; Strom TM
    Am J Hum Genet; 2014 Dec; 95(6):698-707. PubMed ID: 25434003
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53.
    Beauchamp MC; Djedid A; Bareke E; Merkuri F; Aber R; Tam AS; Lines MA; Boycott KM; Stirling PC; Fish JL; Majewski J; Jerome-Majewska LA
    Hum Mol Genet; 2021 May; 30(9):739-757. PubMed ID: 33601405
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.
    Czeschik JC; Voigt C; Alanay Y; Albrecht B; Avci S; Fitzpatrick D; Goudie DR; Hehr U; Hoogeboom AJ; Kayserili H; Simsek-Kiper PO; Klein-Hitpass L; Kuechler A; López-González V; Martin M; Rahmann S; Schweiger B; Splitt M; Wollnik B; Lüdecke HJ; Zeschnigk M; Wieczorek D
    Hum Genet; 2013 Aug; 132(8):885-98. PubMed ID: 23568615
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Spliceosomal GTPase Eftud2 deficiency-triggered ferroptosis leads to Purkinje cell degeneration.
    Yang G; Yang Y; Song Z; Chen L; Liu F; Li Y; Jiang S; Xue S; Pei J; Wu Y; He Y; Chu B; Wu H
    Neuron; 2024 Aug; ():. PubMed ID: 39153477
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
    Vincent M; Geneviève D; Ostertag A; Marlin S; Lacombe D; Martin-Coignard D; Coubes C; David A; Lyonnet S; Vilain C; Dieux-Coeslier A; Manouvrier S; Isidor B; Jacquemont ML; Julia S; Layet V; Naudion S; Odent S; Pasquier L; Pelras S; Philip N; Pierquin G; Prieur F; Aboussair N; Attie-Bitach T; Baujat G; Blanchet P; Blanchet C; Dollfus H; Doray B; Schaefer E; Edery P; Giuliano F; Goldenberg A; Goizet C; Guichet A; Herlin C; Lambert L; Leheup B; Martinovic J; Mercier S; Mignot C; Moutard ML; Perez MJ; Pinson L; Puechberty J; Willems M; Randrianaivo H; Szakszon K; Toutain A; Verloes A; Vigneron J; Sanchez E; Sarda P; Laplanche JL; Collet C
    Genet Med; 2016 Jan; 18(1):49-56. PubMed ID: 25790162
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 15.