BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

201 related articles for article (PubMed ID: 30548146)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. Further delineation of Malan syndrome.
    Priolo M; Schanze D; Tatton-Brown K; Mulder PA; Tenorio J; Kooblall K; Acero IH; Alkuraya FS; Arias P; Bernardini L; Bijlsma EK; Cole T; Coubes C; Dapia I; Davies S; Di Donato N; Elcioglu NH; Fahrner JA; Foster A; González NG; Huber I; Iascone M; Kaiser AS; Kamath A; Liebelt J; Lynch SA; Maas SM; Mammì C; Mathijssen IB; McKee S; Menke LA; Mirzaa GM; Montgomery T; Neubauer D; Neumann TE; Pintomalli L; Pisanti MA; Plomp AS; Price S; Salter C; Santos-Simarro F; Sarda P; Segovia M; Shaw-Smith C; Smithson S; Suri M; Valdez RM; Van Haeringen A; Van Hagen JM; Zollino M; Lapunzina P; Thakker RV; Zenker M; Hennekam RC
    Hum Mutat; 2018 Sep; 39(9):1226-1237. PubMed ID: 29897170
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon-level Array, and RNA sequencing.
    Zhao J; Longo N; Lewis RG; Nicholas TJ; Boyden SE; Andrews A; Larson A; ; Bayrak-Toydemir P; Botto LD; Mao R
    Am J Med Genet A; 2024 May; 194(5):e63516. PubMed ID: 38168088
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Development and behaviour in Marshall-Smith syndrome: an exploratory study of cognition, phenotype and autism.
    van Balkom ID; Shaw A; Vuijk PJ; Franssens M; Hoek HW; Hennekam RC
    J Intellect Disabil Res; 2011 Oct; 55(10):973-87. PubMed ID: 21790824
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Marshall-Smith syndrome: Novel pathogenic variant and previously unreported associations with precocious puberty and aortic root dilatation.
    Aggarwal A; Nguyen J; Rivera-Davila M; Rodriguez-Buritica D
    Eur J Med Genet; 2017 Jul; 60(7):391-394. PubMed ID: 28442439
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Marshall-Smith syndrome.
    Herman TE; Siegel MJ
    J Perinatol; 2015 Apr; 35(4):307-9. PubMed ID: 25813678
    [No Abstract]   [Full Text] [Related]  

  • 11. Neonatal Marshall-Smith syndrome.
    Gómez-Santos E; Lloreda-García JM; Fernández-Fructuoso JR; Martínez-Ferrández C; Leante-Castellanos JL; Fuentes-Gutiérrez C
    Clin Dysmorphol; 2014 Apr; 23(2):42-44. PubMed ID: 24556605
    [No Abstract]   [Full Text] [Related]  

  • 12. Variants in nuclear factor I genes influence growth and development.
    Zenker M; Bunt J; Schanze I; Schanze D; Piper M; Priolo M; Gerkes EH; Gronostajski RM; Richards LJ; Vogt J; Wessels MW; Hennekam RC
    Am J Med Genet C Semin Med Genet; 2019 Dec; 181(4):611-626. PubMed ID: 31730271
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.
    Mulder PA; van Balkom IDC; Landlust AM; Priolo M; Menke LA; Acero IH; Alkuraya FS; Arias P; Bernardini L; Bijlsma EK; Cole T; Coubes C; Dapia I; Davies S; Di Donato N; Elcioglu NH; Fahrner JA; Foster A; González NG; Huber I; Iascone M; Kaiser AS; Kamath A; Kooblall K; Lapunzina P; Liebelt J; Lynch SA; Maas SM; Mammì C; Mathijssen IB; McKee S; Mirzaa GM; Montgomery T; Neubauer D; Neumann TE; Pintomalli L; Pisanti MA; Plomp AS; Price S; Salter C; Santos-Simarro F; Sarda P; Schanze D; Segovia M; Shaw-Smith C; Smithson S; Suri M; Tatton-Brown K; Tenorio J; Thakker RV; Valdez RM; Van Haeringen A; Van Hagen JM; Zenker M; Zollino M; Dunn WW; Piening S; Hennekam RC
    J Intellect Disabil Res; 2020 Dec; 64(12):956-969. PubMed ID: 33034087
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A rare cause of intellectual disability: Novel mutations of NFIX gene in two patients with clinical features of Marshall-Smith syndrome and Malan syndrome.
    Uzman CY; Gürsoy S; Hazan F
    Int J Dev Neurosci; 2023 Aug; 83(5):479-485. PubMed ID: 37336770
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.
    Malan V; Rajan D; Thomas S; Shaw AC; Louis Dit Picard H; Layet V; Till M; van Haeringen A; Mortier G; Nampoothiri S; Puseljić S; Legeai-Mallet L; Carter NP; Vekemans M; Munnich A; Hennekam RC; Colleaux L; Cormier-Daire V
    Am J Hum Genet; 2010 Aug; 87(2):189-98. PubMed ID: 20673863
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.
    Klaassens M; Morrogh D; Rosser EM; Jaffer F; Vreeburg M; Bok LA; Segboer T; van Belzen M; Quinlivan RM; Kumar A; Hurst JA; Scott RH
    Eur J Hum Genet; 2015 May; 23(5):610-5. PubMed ID: 25118028
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mosaic supernumerary r(8) syndrome.
    Yilmaz S; Tarkan-Argüden Y; Kuru D; Deviren A; Karaman B; Yüksel A; Hacihanefioğlu S
    Genet Couns; 2005; 16(2):187-90. PubMed ID: 16080301
    [No Abstract]   [Full Text] [Related]  

  • 19. Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11.
    De Bernardi ML; Ivanovski I; Caraffi SG; Maini I; Street ME; Bayat A; Zollino M; Lepri FR; Gnazzo M; Errichiello E; Superti-Furga A; Garavelli L
    Am J Med Genet A; 2018 Sep; 176(9):1991-1995. PubMed ID: 30088855
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A pigmentary skin defect is a new finding in Marshall-Smith syndrome.
    Passalacqua C; Melo C; Martín LM; Rojas F; Sanz P; Taucher SC; Aranibar L
    Am J Med Genet A; 2011 Aug; 155A(8):2015-7. PubMed ID: 21739579
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.