BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

139 related articles for article (PubMed ID: 31077931)

  • 1. Traumatic globe rupture in a patient with Marshall-Smith Syndrome.
    Salik I; Barst S
    J Clin Anesth; 2019 Dec; 58():47. PubMed ID: 31077931
    [No Abstract]   [Full Text] [Related]  

  • 2. 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]  

  • 3. [Anesthetic implications of Marshall-Smith syndrome].
    Fernández Pérez AB; Quesada Garcia C; González Hernández O; Calvo Falcón R
    Rev Esp Anestesiol Reanim; 2011 Mar; 58(3):191-2. PubMed ID: 21534299
    [No Abstract]   [Full Text] [Related]  

  • 4. Marshall-Smith syndrome and septo-optic dysplasia: an unreported association.
    Travan L; Oretti C; Zennaro F; Demarini S
    Am J Med Genet A; 2008 Aug; 146A(16):2138-40. PubMed ID: 18627063
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Congenital cataract and congenital glaucoma in Marshall-Smith syndrome.
    Sayadi J; Malek I
    Pan Afr Med J; 2021; 40():147. PubMed ID: 34925682
    [No Abstract]   [Full Text] [Related]  

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

  • 8. 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]  

  • 9. Surgical correction of severe kyphoscoliosis resulting in a neurological complication in Marshall-Smith syndrome.
    Cao K; Watanabe K; Hosogane N; Toyama Y; Matsumoto M
    J Orthop Sci; 2015 Mar; 20(2):430-3. PubMed ID: 23943225
    [No Abstract]   [Full Text] [Related]  

  • 10. 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]  

  • 11. Anesthesia out of surgical area in a child with Marshall-Smith Syndrome.
    Fernández AB; Quesada C; Calvo R
    Minerva Anestesiol; 2011 Jan; 77(1):97-8. PubMed ID: 21273971
    [No Abstract]   [Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. Fronto-orbital advancement in a patient with Marshall-Smith syndrome: a case report and review of the literature.
    Knie B; Morota N; Ihara S; Tamada I
    Childs Nerv Syst; 2021 Feb; 37(2):677-682. PubMed ID: 32617711
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported.
    Fukuhara Y; Cho SY; Miyazaki O; Hattori A; Seo JH; Mashima R; Kosuga M; Fukami M; Jin DK; Okuyama T; Nishimura G
    Clin Dysmorphol; 2019 Jan; 28(1):26-29. PubMed ID: 30124491
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 7.