192 related articles for article (PubMed ID: 35778969)
1. Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies.
Mussa A; Turchiano A; Cardaropoli S; Coppo P; Pantaleo A; Bagnulo R; Ranieri C; Iacoviello M; Garganese A; Stella A; Vallero SG; Bertin D; Santoro F; Carli D; Ferrero GB; Resta N
Genes Chromosomes Cancer; 2022 Nov; 61(11):689-695. PubMed ID: 35778969
[TBL] [Abstract][Full Text] [Related]
2. Diffuse capillary malformation with overgrowth contains somatic PIK3CA variants.
Goss JA; Konczyk DJ; Smits P; Sudduth CL; Bischoff J; Liang MG; Greene AK
Clin Genet; 2020 May; 97(5):736-740. PubMed ID: 31909475
[TBL] [Abstract][Full Text] [Related]
3. Mosaic RASopathy due to KRAS variant G12D with segmental overgrowth and associated peripheral vascular malformations.
Schmidt VF; Wieland I; Wohlgemuth WA; Ricke J; Wildgruber M; Zenker M
Am J Med Genet A; 2021 Oct; 185(10):3122-3128. PubMed ID: 34114335
[TBL] [Abstract][Full Text] [Related]
4. Comprehensive molecular and clinicopathological analysis of vascular malformations: A study of 319 cases.
Ten Broek RW; Eijkelenboom A; van der Vleuten CJM; Kamping EJ; Kets M; Verhoeven BH; Grünberg K; Schultze Kool LJ; Tops BBJ; Ligtenberg MJL; Flucke U
Genes Chromosomes Cancer; 2019 Aug; 58(8):541-550. PubMed ID: 30677207
[TBL] [Abstract][Full Text] [Related]
5. Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence?
Döcker D; Schubach M; Menzel M; Spaich C; Gabriel HD; Zenker M; Bartholdi D; Biskup S
Eur J Hum Genet; 2015 Mar; 23(3):409-12. PubMed ID: 24939587
[TBL] [Abstract][Full Text] [Related]
6. Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway.
Carli D; Resta N; Ferrero GB; Ruggieri M; Mussa A
Am J Med Genet C Semin Med Genet; 2022 Dec; 190(4):520-529. PubMed ID: 36461154
[TBL] [Abstract][Full Text] [Related]
7. Molecular diagnosis of somatic overgrowth conditions: A single-center experience.
Lalonde E; Ebrahimzadeh J; Rafferty K; Richards-Yutz J; Grant R; Toorens E; Marie Rosado J; Schindewolf E; Ganguly T; Kalish JM; Deardorff MA; Ganguly A
Mol Genet Genomic Med; 2019 Mar; 7(3):e536. PubMed ID: 30761771
[TBL] [Abstract][Full Text] [Related]
8. Cerebrofacial vascular metameric syndrome is caused by somatic pathogenic variants in
Sheppard SE; Sanders VR; Srinivasan A; Finn LS; Adams D; Elton A; Amlie-Lefond C; Nelson Z; Dmyterko V; Jensen D; Zenner K; Perkins J; Bennett JT
Cold Spring Harb Mol Case Stud; 2021 Dec; 7(6):. PubMed ID: 34887309
[TBL] [Abstract][Full Text] [Related]
9. Lateralized and Segmental Overgrowth in Children.
Mussa A; Carli D; Cardaropoli S; Ferrero GB; Resta N
Cancers (Basel); 2021 Dec; 13(24):. PubMed ID: 34944785
[TBL] [Abstract][Full Text] [Related]
10. [PIK3CA-related overgrowth syndrome (PROS)].
Venot Q; Canaud G
Nephrol Ther; 2017 Apr; 13 Suppl 1():S155-S156. PubMed ID: 28577738
[TBL] [Abstract][Full Text] [Related]
11. Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.
de Kock L; Cuillerier A; Gillespie M; Couse M; Hartley T; Mears W; Bernier FP; Chudley AE; Frosk P; Nikkel SM; Innes AM; Lauzon J; Thomas M; Guerin A; Armour CM; Weksberg R; Scott JN; Watkins D; Harvey S; Cytrynbaum C; ; Kernohan KD; Boycott KM
Am J Med Genet A; 2024 Mar; 194(3):e63466. PubMed ID: 37949664
[TBL] [Abstract][Full Text] [Related]
12. The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth.
Luca M; Piglionica M; Bagnulo R; Cardaropoli S; Carli D; Turchiano A; Coppo P; Pantaleo A; Iacoviello M; Ferrero GB; Mussa A; Resta N
Genes Chromosomes Cancer; 2023 Dec; 62(12):703-709. PubMed ID: 37395289
[TBL] [Abstract][Full Text] [Related]
13. Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.
Keppler-Noreuil KM; Sapp JC; Lindhurst MJ; Parker VE; Blumhorst C; Darling T; Tosi LL; Huson SM; Whitehouse RW; Jakkula E; Grant I; Balasubramanian M; Chandler KE; Fraser JL; Gucev Z; Crow YJ; Brennan LM; Clark R; Sellars EA; Pena LD; Krishnamurty V; Shuen A; Braverman N; Cunningham ML; Sutton VR; Tasic V; Graham JM; Geer J; Henderson A; Semple RK; Biesecker LG
Am J Med Genet A; 2014 Jul; 164A(7):1713-33. PubMed ID: 24782230
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS).
Gökpınar İli E; Taşdelen E; Durmaz CD; Altıner Ş; Tuncalı T; Martinez-Glez V; Karabulut HG; Vural S; Ceylaner S; Acar MO; Ilgın Ruhi H
Am J Med Genet A; 2022 Jun; 188(6):1792-1800. PubMed ID: 35238469
[TBL] [Abstract][Full Text] [Related]
16. Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients.
Papadopoulos G; Papadopoulou A; Kosma K; Papadimitriou A; Papaevangelou V; Kanaka-Gantenbein C; Bountouvi E; Kitsiou-Tzeli S
Eur J Pediatr; 2022 Oct; 181(10):3691-3700. PubMed ID: 35904599
[TBL] [Abstract][Full Text] [Related]
17. Intracranial venous malformation masquerading as a meningioma in PI3KCA-related overgrowth spectrum disorder.
Filippidis A; Lidov H; Al-Ibraheemi A; See AP; Srivastava S; Orbach DB; Fehnel KP
Am J Med Genet A; 2022 Mar; 188(3):907-910. PubMed ID: 34854542
[TBL] [Abstract][Full Text] [Related]
18. Segmental undergrowth is associated with pathogenic variants in vascular malformation genes: A retrospective case-series study.
Martinez-Glez V; Rodriguez-Laguna L; Viana-Huete V; García Torrijos C; Hurtado B; Lapunzina P; Triana P; López-Gutiérrez JC
Clin Genet; 2022 Mar; 101(3):296-306. PubMed ID: 34850385
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.
Mussa A; Leoni C; Iacoviello M; Carli D; Ranieri C; Pantaleo A; Buonuomo PS; Bagnulo R; Ferrero GB; Bartuli A; Melis D; Maitz S; Loconte DC; Turchiano A; Piglionica M; De Luisi A; Susca FC; Bukvic N; Forleo C; Selicorni A; Zampino G; Onesimo R; Cappuccio G; Garavelli L; Novelli C; Memo L; Morando C; Della Monica M; Accadia M; Capurso M; Piscopo C; Cereda A; Di Giacomo MC; Saletti V; Spinelli AM; Lastella P; Tenconi R; Dvorakova V; Irvine AD; Resta N
J Med Genet; 2023 Feb; 60(2):163-173. PubMed ID: 35256403
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
