BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

166 related articles for article (PubMed ID: 27753196)

  • 1. Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism.
    Moosa S; Böhrer-Rabel H; Altmüller J; Beleggia F; Nürnberg P; Li Y; Yigit G; Wollnik B
    Am J Med Genet A; 2017 Jan; 173(1):264-267. PubMed ID: 27753196
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant.
    Poole RL; Curry PDK; Marcinkute R; Brewer C; Coman D; Hobson E; Johnson D; Lynch SA; Saggar A; Searle C; Scurr I; Turnpenny PD; Vasudevan P; Tatton-Brown K
    Am J Med Genet A; 2021 Aug; 185(8):2445-2454. PubMed ID: 34032352
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities.
    Mroske C; Rasmussen K; Shinde DN; Huether R; Powis Z; Lu HM; Baxter RM; McPherson E; Tang S
    BMC Med Genet; 2015 Nov; 16():102. PubMed ID: 26542245
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Smith-Kingsmore syndrome caused by MTOR gene variation: 2 cases and literature review].
    Lei HH; Liu LL; Wang XL; Tie XC; Tian N; Ji Y; Yang Y
    Zhonghua Er Ke Za Zhi; 2022 Sep; 60(9):935-939. PubMed ID: 36038305
    [No Abstract]   [Full Text] [Related]  

  • 5. A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome.
    Rodríguez-García ME; Cotrina-Vinagre FJ; Bellusci M; Martínez de Aragón A; Hernández-Sánchez L; Carnicero-Rodríguez P; Martín-Hernández E; Martínez-Azorín F
    Eur J Hum Genet; 2019 Sep; 27(9):1369-1378. PubMed ID: 31053780
    [TBL] [Abstract][Full Text] [Related]  

  • 6. mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review.
    Gordo G; Tenorio J; Arias P; Santos-Simarro F; García-Miñaur S; Moreno JC; Nevado J; Vallespin E; Rodriguez-Laguna L; de Mena R; Dapia I; Palomares-Bralo M; Del Pozo Á; Ibañez K; Silla JC; Barroso E; Ruiz-Pérez VL; Martinez-Glez V; Lapunzina P
    Clin Genet; 2018 Apr; 93(4):762-775. PubMed ID: 28892148
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth.
    Carli D; Ferrero GB; Fusillo A; Coppo P; La Selva R; Zinali F; Cardaropoli S; Ranieri C; Iacoviello M; Resta N; Mussa A
    Clin Genet; 2021 May; 99(5):719-723. PubMed ID: 33506498
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity.
    Besterman AD; Althoff T; Elfferich P; Gutierrez-Mejia I; Sadik J; Bernstein JA; van Ierland Y; Kattentidt-Mouravieva AA; Nellist M; Abramson J; Martinez-Agosto JA
    PLoS Genet; 2021 Jul; 17(7):e1009651. PubMed ID: 34197453
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
    Mirzaa GM; Campbell CD; Solovieff N; Goold C; Jansen LA; Menon S; Timms AE; Conti V; Biag JD; Adams C; Boyle EA; Collins S; Ishak G; Poliachik S; Girisha KM; Yeung KS; Chung BHY; Rahikkala E; Gunter SA; McDaniel SS; Macmurdo CF; Bernstein JA; Martin B; Leary R; Mahan S; Liu S; Weaver M; Doerschner M; Jhangiani S; Muzny DM; Boerwinkle E; Gibbs RA; Lupski JR; Shendure J; Saneto RP; Novotny EJ; Wilson CJ; Sellers WR; Morrissey M; Hevner RF; Ojemann JG; Guerrini R; Murphy LO; Winckler W; Dobyns WB
    JAMA Neurol; 2016 Jul; 73(7):836-845. PubMed ID: 27159400
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome.
    Gripp KW; Stabley DL; Geller PL; Hopkins E; Stevenson DA; Carey JC; Sol-Church K
    Am J Med Genet A; 2011 Sep; 155A(9):2263-8. PubMed ID: 21834037
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Midline non-ictal rhythmic waveforms as possible electroencephalographic biomarkers of Smith-Klingsmore syndrome in children.
    Simonelli V; Ferrari AR; Battini R; Brovedani P; Bartolini E
    Clin Neurophysiol Pract; 2024; 9():102-105. PubMed ID: 38495955
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Brain Tissue Low-Level Mosaicism for
    Szczałuba K; Rydzanicz M; Walczak A; Kosińska J; Koppolu A; Biernacka A; Iwanicka-Pronicka K; Grajkowska W; Jurkiewicz E; Kowalczyk P; Płoski R
    Diagnostics (Basel); 2021 Jul; 11(7):. PubMed ID: 34359351
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature.
    Handoko M; Emrick LT; Rosenfeld JA; Wang X; Tran AA; Turner A; Belmont JW; ; Lee BH; Bacino CA; Chao HT
    Am J Med Genet A; 2019 Mar; 179(3):475-479. PubMed ID: 30569621
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability.
    Jongmans MC; Hoefsloot LH; van der Donk KP; Admiraal RJ; Magee A; van de Laar I; Hendriks Y; Verheij JB; Walpole I; Brunner HG; van Ravenswaaij CM
    Am J Med Genet A; 2008 Jan; 146A(1):43-50. PubMed ID: 18074359
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Familial Gordon syndrome associated with a PIEZO2 mutation.
    Alisch F; Weichert A; Kalache K; Paradiso V; Longardt AC; Dame C; Hoffmann K; Horn D
    Am J Med Genet A; 2017 Jan; 173(1):254-259. PubMed ID: 27714920
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Semaglutide as a potential treatment for obesity in Smith-Kingsmore syndrome (SKS) patients: A mosaic mutation case report.
    Bonnet JB; Durieux AT; Tournayre S; Marty L; Sultan A; Avignon A
    Obes Res Clin Pract; 2024; 18(2):159-162. PubMed ID: 38582735
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing.
    Baurand A; Falcon-Eicher S; Laurent G; Villain E; Bonnet C; Thauvin-Robinet C; Jacquot C; Eicher JC; Gourraud JB; Schmitt S; Bézieau S; Giraud M; Dumont S; Kuentz P; Probst V; Burguet A; Kyndt F; Faivre L
    Am J Med Genet A; 2017 Feb; 173(2):531-536. PubMed ID: 27868338
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features.
    Smith JA; Holden KR; Friez MJ; Jones JR; Lyons MJ
    Am J Med Genet A; 2016 Dec; 170(12):3313-3318. PubMed ID: 27570168
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces.
    Baynam G; Overkov A; Davis M; Mina K; Schofield L; Allcock R; Laing N; Cook M; Dawkins H; Goldblatt J
    Am J Med Genet A; 2015 Jul; 167(7):1659-67. PubMed ID: 25851998
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism.
    Dhamija R; Kirmani S; Wang X; Ferber MJ; Wieben ED; Lazaridis KN; Babovic-Vuksanovic D
    Am J Med Genet A; 2014 Sep; 164A(9):2356-9. PubMed ID: 24888332
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.