134 related articles for article (PubMed ID: 31793186)
1. Approach to overgrowth syndromes in the genome era.
Burkardt DD; Tatton-Brown K; Dobyns W; Graham JM
Am J Med Genet C Semin Med Genet; 2019 Dec; 181(4):483-490. PubMed ID: 31793186
[TBL] [Abstract][Full Text] [Related]
2. Advances in overgrowth syndromes: clinical classification to molecular delineation in Sotos syndrome and Beckwith-Wiedemann syndrome.
Cytrynbaum CS; Smith AC; Rubin T; Weksberg R
Curr Opin Pediatr; 2005 Dec; 17(6):740-6. PubMed ID: 16282780
[TBL] [Abstract][Full Text] [Related]
3. Epigenetic signatures in overgrowth syndromes: Translational opportunities.
Cytrynbaum C; Choufani S; Weksberg R
Am J Med Genet C Semin Med Genet; 2019 Dec; 181(4):491-501. PubMed ID: 31828978
[TBL] [Abstract][Full Text] [Related]
4. [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]
5. Overgrowth syndromes:from classical to new.
Visser R; Kant SG; Wit JM; Breuning MH
Pediatr Endocrinol Rev; 2009 Mar; 6(3):375-94. PubMed ID: 19396024
[TBL] [Abstract][Full Text] [Related]
6. Approach to the Diagnosis of Overgrowth Syndromes.
Suri M
Indian J Pediatr; 2016 Oct; 83(10):1175-87. PubMed ID: 26680784
[TBL] [Abstract][Full Text] [Related]
7. Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities.
Thauvin-Robinet C; Duplomb-Jego L; Limoge F; Picot D; Masurel A; Terriat B; Champilou C; Minot D; St-Onge J; Kuentz P; Duffourd Y; Thevenon J; Rivière JB; Faivre L
Clin Genet; 2016 May; 89(5):e1-4. PubMed ID: 26660953
[TBL] [Abstract][Full Text] [Related]
8. A new overgrowth syndrome is due to mutations in RNF125.
Tenorio J; Mansilla A; Valencia M; Martínez-Glez V; Romanelli V; Arias P; Castrejón N; Poletta F; Guillén-Navarro E; Gordo G; Mansilla E; García-Santiago F; González-Casado I; Vallespín E; Palomares M; Mori MA; Santos-Simarro F; García-Miñaur S; Fernández L; Mena R; Benito-Sanz S; del Pozo Á; Silla JC; Ibañez K; López-Granados E; Martín-Trujillo A; Montaner D; ; Heath KE; Campos-Barros Á; Dopazo J; Nevado J; Monk D; Ruiz-Pérez VL; Lapunzina P
Hum Mutat; 2014 Dec; 35(12):1436-41. PubMed ID: 25196541
[TBL] [Abstract][Full Text] [Related]
9. Overgrowth syndromes.
Neylon OM; Werther GA; Sabin MA
Curr Opin Pediatr; 2012 Aug; 24(4):505-11. PubMed ID: 22705997
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletions.
Kamien B; Digilio MC; Novelli A; O'Donnell S; Bain N; Meldrum C; Dudding-Byth T; Scott RJ; Goel H
Eur J Med Genet; 2015 Nov; 58(11):629-33. PubMed ID: 26475974
[TBL] [Abstract][Full Text] [Related]
12. Commonest overgrowth syndromes.
Ekmektzoglou K; Demestiha T; Troupis G; Xanthos T
Fetal Pediatr Pathol; 2012 Apr; 31(2):94-111. PubMed ID: 22409408
[TBL] [Abstract][Full Text] [Related]
13. A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing.
Kamien B; Ronan A; Poke G; Sinnerbrink I; Baynam G; Ward M; Gibson WT; Dudding-Byth T; Scott RJ
Mol Syndromol; 2018 Feb; 9(2):70-82. PubMed ID: 29593474
[TBL] [Abstract][Full Text] [Related]
14. Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G.
Al-Qattan MM; Hadadi A; Al-Thunayan AM; Eldali AA; AlBalwi MA
BMC Med Genet; 2018 Sep; 19(1):158. PubMed ID: 30180809
[TBL] [Abstract][Full Text] [Related]
15. Overgrowth syndromes: a classification.
Neri G; Moscarda M
Endocr Dev; 2009; 14():53-60. PubMed ID: 19293574
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Interstitial deletion 1p36.32 in two brothers with a distinct phenotype--overgrowth, macrocephaly and nearly normal intellectual function.
Di Donato N; Klink B; Hahn G; Schrock E; Hackmann K
Eur J Med Genet; 2014 Sep; 57(9):494-7. PubMed ID: 24862882
[TBL] [Abstract][Full Text] [Related]
18. [Epigenetic origin of diabetes and growth disorders].
Schwitzgebel VM
Rev Med Suisse; 2007 Feb; 3(100):533, 535-7. PubMed ID: 17410940
[TBL] [Abstract][Full Text] [Related]
19. GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome.
Li M; Shuman C; Fei YL; Cutiongco E; Bender HA; Stevens C; Wilkins-Haug L; Day-Salvatore D; Yong SL; Geraghty MT; Squire J; Weksberg R
Am J Med Genet; 2001 Aug; 102(2):161-8. PubMed ID: 11477610
[TBL] [Abstract][Full Text] [Related]
20. Overgrowth.
Ambler G
Best Pract Res Clin Endocrinol Metab; 2002 Sep; 16(3):519-46. PubMed ID: 12464232
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
