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 *

98 related articles for article (PubMed ID: 28452798)

  • 1. Familial craniofacial abnormality and polymicrogyria associated with a microdeletion affecting the NFIA gene.
    Bayat A; Kirchhoff M; Madsen CG; Roos L; Kreiborg S
    Clin Dysmorphol; 2017 Jul; 26(3):148-153. PubMed ID: 28452798
    [No Abstract]   [Full Text] [Related]  

  • 2. An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects.
    Rao A; O'Donnell S; Bain N; Meldrum C; Shorter D; Goel H
    Eur J Med Genet; 2014 Feb; 57(2-3):65-70. PubMed ID: 24462883
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Microdeletion of 1p32-p31 involving NFIA in a patient with hypoplastic corpus callosum, ventriculomegaly, seizures and urinary tract defects.
    Ji J; Salamon N; Quintero-Rivera F
    Eur J Med Genet; 2014; 57(6):267-8. PubMed ID: 24657733
    [No Abstract]   [Full Text] [Related]  

  • 4. Refinement of the 8q22.1 microdeletion critical region associated with Nablus mask-like facial syndrome.
    Overhoff J; Rabideau MM; Bird LM; Schweitzer DN; Haynes K; Schultz RA; Shaffer LG; Rosenfeld JA; Ellison JW
    Am J Med Genet A; 2014 Jan; 164A(1):259-63. PubMed ID: 24259484
    [No Abstract]   [Full Text] [Related]  

  • 5. Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome.
    Schanze D; Neubauer D; Cormier-Daire V; Delrue MA; Dieux-Coeslier A; Hasegawa T; Holmberg EE; Koenig R; Krueger G; Schanze I; Seemanova E; Shaw AC; Vogt J; Volleth M; Reis A; Meinecke P; Hennekam RC; Zenker M
    Hum Mutat; 2014 Sep; 35(9):1092-100. PubMed ID: 24924640
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Malan syndrome: Extension of genotype and phenotype spectrum.
    Rai A; Narayanan DL; Phadke SR
    Am J Med Genet A; 2018 Dec; 176(12):2896-2900. PubMed ID: 30548146
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Familial craniosynostosis associated with a microdeletion involving the NFIA gene.
    Nyboe D; Kreiborg S; Kirchhoff M; Hove HB
    Clin Dysmorphol; 2015 Jul; 24(3):109-12. PubMed ID: 25714559
    [No Abstract]   [Full Text] [Related]  

  • 8. A de-novo NFIX mutation causes a case of neonatal lethal Marshall-Smith syndrome.
    Bupp C; Junewick J; Hess JL
    Clin Dysmorphol; 2020 Oct; 29(4):214-216. PubMed ID: 32701632
    [No Abstract]   [Full Text] [Related]  

  • 9. Two cases with de novo 3q26.31 microdeletion suggest a role for FNDC3B in human craniofacial development.
    Cao Y; Mitchell EB; Gorski JL; Hollinger C; Hoppman NL
    Am J Med Genet A; 2016 Dec; 170(12):3276-3281. PubMed ID: 27541078
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A novel 1p31.3p32.2 deletion involving the NFIA gene detected by array CGH in a patient with macrocephaly and hypoplasia of the corpus callosum.
    Koehler U; Holinski-Feder E; Ertl-Wagner B; Kunz J; von Moers A; von Voss H; Schell-Apacik C
    Eur J Pediatr; 2010 Apr; 169(4):463-8. PubMed ID: 19763616
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel NFIA gene nonsense mutation in a Chinese patient with macrocephaly, corpus callosum hypoplasia, developmental delay, and dysmorphic features.
    Zhang Y; Lin CM; Zheng XL; Abuduxikuer K
    Mol Genet Genomic Med; 2020 Nov; 8(11):e1492. PubMed ID: 32926563
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes.
    Martinez F; Marín-Reina P; Sanchis-Calvo A; Perez-Aytés A; Oltra S; Roselló M; Mayo S; Monfort S; Pantoja J; Orellana C
    Pediatr Res; 2015 Nov; 78(5):533-9. PubMed ID: 26200704
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Distal 5q deletion with associated parietal foramina.
    Aftimos S; Asquith P; Ashton F; Vasilevski O; Love DR
    Clin Dysmorphol; 2010 Jan; 19(1):43-47. PubMed ID: 19952731
    [No Abstract]   [Full Text] [Related]  

  • 14. A variant example of familial Floating-Harbor syndrome?
    Peñaloza JM; García-Cruz D; Dávalos IP; Dávalos NO; García-Cruz MO; Pérez-Rulfo D; Sánchez-Corona J
    Genet Couns; 2003; 14(1):31-7. PubMed ID: 12725587
    [TBL] [Abstract][Full Text] [Related]  

  • 15. New SMARCE1 variant in a patient with features overlapping with oculoauriculofrontonasal syndrome.
    Yano S; Fujimoto A; Morin-Leisk J; Matumoto N; Miyake N; Gillespie M; Gao H
    Clin Genet; 2018 Nov; 94(5):487-488. PubMed ID: 30209809
    [No Abstract]   [Full Text] [Related]  

  • 16. Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant.
    Jezela-Stanek A; Kucharczyk M; Falana K; Jurkiewicz D; Mlynek M; Wicher D; Rydzanicz M; Kugaudo M; Cieslikowska A; Ciara E; Ploski R; Krajewska-Walasek M
    Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub; 2016 Mar; 160(1):161-7. PubMed ID: 26927468
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Comparison between direct clinical and digital photogrammetric measurements in patients with 22q11 microdeletion.
    Guyot L; Dubuc M; Richard O; Philip N; Dutour O
    Int J Oral Maxillofac Surg; 2003 Jun; 32(3):246-52. PubMed ID: 12767869
    [TBL] [Abstract][Full Text] [Related]  

  • 18. NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series.
    Gurrieri F; Cavaliere ML; Wischmeijer A; Mammì C; Neri G; Pisanti MA; Rodella G; Laganà C; Priolo M
    Eur J Med Genet; 2015 Sep; 58(9):488-91. PubMed ID: 26193383
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Small deletion--large effect].
    Lüerssen K; Pruggmayer M; Ptok M
    HNO; 2004 Mar; 52(3):258-60. PubMed ID: 15004686
    [TBL] [Abstract][Full Text] [Related]  

  • 20. High-throughput sequencing identifies an NFIA/CBFA2T3 fusion gene in acute erythroid leukemia with t(1;16)(p31;q24).
    Micci F; Thorsen J; Panagopoulos I; Nyquist KB; Zeller B; Tierens A; Heim S
    Leukemia; 2013 Apr; 27(4):980-2. PubMed ID: 23032695
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 5.