BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

188 related articles for article (PubMed ID: 33034087)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. [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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. Long survival of a patient with Marshall-Smith syndrome without respiratory complications.
    Sperli D; Concolino D; Barbato C; Strisciuglio P; Andria G
    J Med Genet; 1993 Oct; 30(10):877-9. PubMed ID: 8230168
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals.
    Morison LD; Kennis MGP; Rots D; Bouman A; Kummeling J; Palmer E; Vogel AP; Liegeois F; Brignell A; Srivastava S; Frazier Z; Milnes D; Goel H; Amor DJ; Scheffer IE; Kleefstra T; Morgan AT
    J Med Genet; 2024 May; 61(6):578-585. PubMed ID: 38290825
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The behavioural phenotype of SATB2-associated syndrome: a within-group and cross-syndrome analysis.
    Bissell S; Oliver C; Moss J; Heald M; Waite J; Crawford H; Kothari V; Rumbellow L; Walters G; Richards C
    J Neurodev Disord; 2022 Mar; 14(1):25. PubMed ID: 35350986
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.