255 related articles for article (PubMed ID: 29593474)
1. 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]
2. 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]
3. Overgrowth syndromes - clinical and molecular aspects and tumour risk.
Brioude F; Toutain A; Giabicani E; Cottereau E; Cormier-Daire V; Netchine I
Nat Rev Endocrinol; 2019 May; 15(5):299-311. PubMed ID: 30842651
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Molecular mechanisms of human overgrowth and use of
Prawitt D; Eggermann T
Front Genet; 2024; 15():1382371. PubMed ID: 38894719
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Overgrowth syndromes with vascular anomalies.
Blei F
Curr Probl Pediatr Adolesc Health Care; 2015 Apr; 45(4):118-31. PubMed ID: 25937473
[TBL] [Abstract][Full Text] [Related]
8. Generalized overgrowth syndromes with prenatal onset.
Yachelevich N
Curr Probl Pediatr Adolesc Health Care; 2015 Apr; 45(4):97-111. PubMed ID: 25861999
[TBL] [Abstract][Full Text] [Related]
9. Overgrowth syndromes, diagnosis and management.
Klein SD; Nisbet A; Kalish JM
Curr Opin Pediatr; 2023 Dec; 35(6):620-630. PubMed ID: 37791807
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Molecular Diagnosis of Mosaic Overgrowth Syndromes Using a Custom-Designed Next-Generation Sequencing Panel.
Chang F; Liu L; Fang E; Zhang G; Chen T; Cao K; Li Y; Li MM
J Mol Diagn; 2017 Jul; 19(4):613-624. PubMed ID: 28502725
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Epilepsy and overgrowth-intellectual disability syndromes: a patient organization perspective on collaborating to accelerate pathways to treatment.
Grens K; Church KM; Diehl E; Hunter SE; Tatton-Brown K; Kiernan J; Delagrammatikas CG
Ther Adv Rare Dis; 2024; 5():26330040241254123. PubMed ID: 38827639
[TBL] [Abstract][Full Text] [Related]
15. Co-occurrence of a maternally inherited
Polonis K; Blackburn PR; Urrutia RA; Lomberk GA; Kruisselbrink T; Cousin MA; Boczek NJ; Hoppman NL; Babovic-Vuksanovic D; Klee EW; Pichurin PN
Cold Spring Harb Mol Case Stud; 2018 Aug; 4(4):. PubMed ID: 29802153
[TBL] [Abstract][Full Text] [Related]
16. Current concepts in tall stature and overgrowth syndromes.
Drop SL; Greggio N; Cappa M; Bernasconi S;
J Pediatr Endocrinol Metab; 2001 Jul; 14 Suppl 2():975-84. PubMed ID: 11529404
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. [Investigation of tall stature in children: Diagnostic work-up, review of the main causes].
Vergier J; Marquant E; Busa T; Reynaud R
Arch Pediatr; 2018 Feb; 25(2):163-169. PubMed ID: 29395883
[TBL] [Abstract][Full Text] [Related]
19. 19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome.
Dong HY; Zeng H; Hu YQ; Xie L; Wang J; Wang XY; Yang YF; Tan ZP
Mol Cytogenet; 2016; 9():71. PubMed ID: 27688808
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
