275 related articles for article (PubMed ID: 24374682)
41. Clinical pitfalls in the diagnosis of segmental overgrowth syndromes: a child with the c.2740G > A mutation in PIK3CA gene.
Maguolo A; Antoniazzi F; Spano A; Fiorini E; Gaudino R; Mauro M; Cantalupo G; Biban P; Maitz S; Cavarzere P
Ital J Pediatr; 2018 Sep; 44(1):110. PubMed ID: 30231930
[TBL] [Abstract][Full Text] [Related]
42. Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.
Bennett JT; Tan TY; Alcantara D; Tétrault M; Timms AE; Jensen D; Collins S; Nowaczyk MJM; Lindhurst MJ; Christensen KM; Braddock SR; Brandling-Bennett H; Hennekam RCM; Chung B; Lehman A; Su J; Ng S; Amor DJ; ; ; Majewski J; Biesecker LG; Boycott KM; Dobyns WB; O'Driscoll M; Moog U; McDonell LM
Am J Hum Genet; 2016 Mar; 98(3):579-587. PubMed ID: 26942290
[TBL] [Abstract][Full Text] [Related]
43. [Congenital hemifacially infiltrating lipomatosis].
Leunbach T; Thelle T
Ugeskr Laeger; 2013 Oct; 175(43):2571-2. PubMed ID: 24629156
[TBL] [Abstract][Full Text] [Related]
44. Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase.
Leiter SM; Parker VER; Welters A; Knox R; Rocha N; Clark G; Payne F; Lotta L; Harris J; Guerrero-Fernández J; González-Casado I; García-Miñaur S; Gordo G; Wareham N; Martínez-Glez V; Allison M; O'Rahilly S; Barroso I; Meissner T; Davies S; Hussain K; Temple K; Barreda-Bonis AC; Kummer S; Semple RK
Eur J Endocrinol; 2017 Aug; 177(2):175-186. PubMed ID: 28566443
[TBL] [Abstract][Full Text] [Related]
45. Somatic PIK3CA mutations in seven patients with PIK3CA-related overgrowth spectrum.
Yeung KS; Ip JJ; Chow CP; Kuong EY; Tam PK; Chan GC; Chung BH
Am J Med Genet A; 2017 Apr; 173(4):978-984. PubMed ID: 28328134
[TBL] [Abstract][Full Text] [Related]
46. Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies.
Keppler-Noreuil KM; Parker VE; Darling TN; Martinez-Agosto JA
Am J Med Genet C Semin Med Genet; 2016 Dec; 172(4):402-421. PubMed ID: 27860216
[TBL] [Abstract][Full Text] [Related]
47. Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum".
Di Donato N; Rump A; Mirzaa GM; Alcantara D; Oliver A; Schrock E; Dobyns WB; O'Driscoll M
Hum Mutat; 2016 Mar; 37(3):242-5. PubMed ID: 26593112
[TBL] [Abstract][Full Text] [Related]
48. Clinical characteristics and surgical management of facial infiltrating lipomatosis: a single center experience.
Chen H; Sun B; Xia W; Qiu Y; Gao W; Hua C; Lin X
Head Face Med; 2024 Feb; 20(1):13. PubMed ID: 38378686
[TBL] [Abstract][Full Text] [Related]
49. Pituitary deficiency and congenital infiltrating lipomatosis of the face in a girl with deletion of chromosome 1q24.3q31.1.
Capra V; Severino M; Rossi A; Nozza P; Doneda C; Perri K; Pavanello M; Fiorio P; Gimelli G; Tassano E; Di Battista E
Am J Med Genet A; 2014 Feb; 164A(2):495-9. PubMed ID: 24311370
[TBL] [Abstract][Full Text] [Related]
50. Overgrowth Syndromes Caused by Somatic Variants in the Phosphatidylinositol 3-Kinase/AKT/Mammalian Target of Rapamycin Pathway.
Akgumus G; Chang F; Li MM
J Mol Diagn; 2017 Jul; 19(4):487-497. PubMed ID: 28502730
[TBL] [Abstract][Full Text] [Related]
51. PI3K/mTOR inhibition promotes the regression of experimental vascular malformations driven by PIK3CA-activating mutations.
di Blasio L; Puliafito A; Gagliardi PA; Comunanza V; Somale D; Chiaverina G; Bussolino F; Primo L
Cell Death Dis; 2018 Jan; 9(2):45. PubMed ID: 29352118
[TBL] [Abstract][Full Text] [Related]
52. Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth.
Cottrell CE; Bender NR; Zimmermann MT; Heusel JW; Corliss M; Evenson MJ; Magrini V; Corsmeier DJ; Avenarius M; Dudley JN; Johnston JJ; Lindhurst MJ; Vigh-Conrad K; Davies OMT; Coughlin CC; Frieden IJ; Tollefson M; Zaenglein AL; Ciliberto H; Tosi LL; Semple RK; Biesecker LG; Drolet BA
Genet Med; 2021 Oct; 23(10):1882-1888. PubMed ID: 34040190
[TBL] [Abstract][Full Text] [Related]
53. Somatic non-cancerous PIK3CA-related overgrowth syndrome treated with alpelisib in North America.
Garneau AP; Haydock L; Tremblay LE; Isenring P
J Mol Med (Berl); 2021 Mar; 99(3):311-313. PubMed ID: 33392635
[No Abstract] [Full Text] [Related]
54. Utility of clinical high-depth next generation sequencing for somatic variant detection in the PIK3CA-related overgrowth spectrum.
Hucthagowder V; Shenoy A; Corliss M; Vigh-Conrad KA; Storer C; Grange DK; Cottrell CE
Clin Genet; 2017 Jan; 91(1):79-85. PubMed ID: 27307077
[TBL] [Abstract][Full Text] [Related]
55. Papillary Intralymphatic Angioendothelioma in a Child With
Debelenko L; Mansukhani MM; Remotti F
Pediatr Dev Pathol; 2023; 26(2):166-171. PubMed ID: 36775953
[TBL] [Abstract][Full Text] [Related]
56. Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS).
Vahidnezhad H; Youssefian L; Uitto J
Exp Dermatol; 2016 Jan; 25(1):17-9. PubMed ID: 26268729
[TBL] [Abstract][Full Text] [Related]
57. Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations.
Brouillard P; Schlögel MJ; Homayun Sepehr N; Helaers R; Queisser A; Fastré E; Boutry S; Schmitz S; Clapuyt P; Hammer F; Dompmartin A; Weitz-Tuoretmaa A; Laranne J; Pasquesoone L; Vilain C; Boon LM; Vikkula M
Orphanet J Rare Dis; 2021 Jun; 16(1):267. PubMed ID: 34112235
[TBL] [Abstract][Full Text] [Related]
58. PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.
Jansen LA; Mirzaa GM; Ishak GE; O'Roak BJ; Hiatt JB; Roden WH; Gunter SA; Christian SL; Collins S; Adams C; Rivière JB; St-Onge J; Ojemann JG; Shendure J; Hevner RF; Dobyns WB
Brain; 2015 Jun; 138(Pt 6):1613-28. PubMed ID: 25722288
[TBL] [Abstract][Full Text] [Related]
59.
Mirzaa G; Timms AE; Conti V; Boyle EA; Girisha KM; Martin B; Kircher M; Olds C; Juusola J; Collins S; Park K; Carter M; Glass I; Krägeloh-Mann I; Chitayat D; Parikh AS; Bradshaw R; Torti E; Braddock S; Burke L; Ghedia S; Stephan M; Stewart F; Prasad C; Napier M; Saitta S; Straussberg R; Gabbett M; O'Connor BC; Keegan CE; Yin LJ; Lai AHM; Martin N; McKinnon M; Addor MC; Boccuto L; Schwartz CE; Lanoel A; Conway RL; Devriendt K; Tatton-Brown K; Pierpont ME; Painter M; Worgan L; Reggin J; Hennekam R; Tsuchiya K; Pritchard CC; Aracena M; Gripp KW; Cordisco M; Van Esch H; Garavelli L; Curry C; Goriely A; Kayserilli H; Shendure J; Graham J; Guerrini R; Dobyns WB
JCI Insight; 2016 Jun; 1(9):. PubMed ID: 27631024
[TBL] [Abstract][Full Text] [Related]
60. An investigation of PIK3CA mutations in isolated macrodactyly.
Wu J; Tian W; Tian G; Sumner K; Hutchinson DT; Ji Y
J Hand Surg Eur Vol; 2018 Sep; 43(7):756-760. PubMed ID: 29661094
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
