214 related articles for article (PubMed ID: 31729162)
1. Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA.
Davis S; Ware MA; Zeiger J; Deardorff MA; Grand K; Grimberg A; Hsu S; Kelsey M; Majidi S; Matthew RP; Napier M; Nokoff N; Prasad C; Riggs AC; McKinnon ML; Mirzaa G
Am J Med Genet A; 2020 Jan; 182(1):162-168. PubMed ID: 31729162
[TBL] [Abstract][Full Text] [Related]
2. Polymicrogyria in association with hypoglycemia points to mutation in the mTOR pathway.
Stutterd C; McGillivray G; Stark Z; Messazos B; Cameron F; White S; ; Mirzaa G; Leventer R
Eur J Med Genet; 2018 Dec; 61(12):738-740. PubMed ID: 29883676
[TBL] [Abstract][Full Text] [Related]
3. Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia.
Nellist M; Schot R; Hoogeveen-Westerveld M; Neuteboom RF; van der Louw EJ; Lequin MH; Bindels-de Heus K; Sibbles BJ; de Coo R; Brooks A; Mancini GM
Mol Genet Metab; 2015 Mar; 114(3):467-73. PubMed ID: 25523067
[TBL] [Abstract][Full Text] [Related]
4. Autism spectrum disorder in a child with megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP).
St John LJ; Rao N
BMJ Case Rep; 2021 Dec; 14(12):. PubMed ID: 34969807
[TBL] [Abstract][Full Text] [Related]
5. The utility of cerebrospinal fluid-derived cell-free DNA in molecular diagnostics for the
Chen WL; Pao E; Owens J; Glass I; Pritchard C; Shirts BH; Lockwood C; Mirzaa GM
Cold Spring Harb Mol Case Stud; 2022 Apr; 8(3):. PubMed ID: 35483878
[TBL] [Abstract][Full Text] [Related]
6. Megalencephaly-Capillary Malformation-Polymicrogyria with Cerebral Venous Thrombosis.
Fortin O; Ashour M; Lacroix C; Sabapathy CA; Myers KA
Can J Neurol Sci; 2020 Nov; 47(6):828-829. PubMed ID: 32631464
[TBL] [Abstract][Full Text] [Related]
7. Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3.
Harada A; Miya F; Utsunomiya H; Kato M; Yamanaka T; Tsunoda T; Kosaki K; Kanemura Y; Yamasaki M
Childs Nerv Syst; 2015 Mar; 31(3):465-71. PubMed ID: 25416470
[TBL] [Abstract][Full Text] [Related]
8. Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations.
Tapper WJ; Foulds N; Cross NC; Aranaz P; Score J; Hidalgo-Curtis C; Robinson DO; Gibson J; Ennis S; Temple IK; Collins A
PLoS One; 2014; 9(1):e86940. PubMed ID: 24497998
[TBL] [Abstract][Full Text] [Related]
9. [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]
10. Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.
Mirzaa GM; Conway RL; Gripp KW; Lerman-Sagie T; Siegel DH; deVries LS; Lev D; Kramer N; Hopkins E; Graham JM; Dobyns WB
Am J Med Genet A; 2012 Feb; 158A(2):269-91. PubMed ID: 22228622
[TBL] [Abstract][Full Text] [Related]
11. Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations.
Park HJ; Shin CH; Yoo WJ; Cho TJ; Kim MJ; Seong MW; Park SS; Lee JH; Sim NS; Ko JM
Orphanet J Rare Dis; 2020 Aug; 15(1):205. PubMed ID: 32778138
[TBL] [Abstract][Full Text] [Related]
12. A PIK3CA mutation in an acquired capillary malformation.
Rosenthal J; Sibbald C; Jen M; Deardorff MA; Treat J
Pediatr Dermatol; 2020 Jan; 37(1):246-247. PubMed ID: 31830321
[TBL] [Abstract][Full Text] [Related]
13. Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.
Mirzaa GM; Rivière JB; Dobyns WB
Am J Med Genet C Semin Med Genet; 2013 May; 163C(2):122-30. PubMed ID: 23592320
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth.
McDermott JH; Hickson N; Banerjee I; Murray PG; Ram D; Metcalfe K; Clayton-Smith J; Douzgou S
Clin Genet; 2018 Mar; 93(3):687-692. PubMed ID: 28941273
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum: A brief report.
Denorme P; Morren MA; Hollants S; Spaepen M; Suaer K; Zutterman N; Labarque V; Legius E; Brems H
Pediatr Dermatol; 2018 May; 35(3):e186-e188. PubMed ID: 29493003
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.
Garde A; Guibaud L; Goldenberg A; Petit F; Dard R; Roume J; Mazereeuw-Hautier J; Chassaing N; Lacombe D; Morice-Picard F; Toutain A; Arpin S; Boccara O; Touraine R; Blanchet P; Coubes C; Willems M; Pinson L; Van Kien PK; Chiaverini C; Giuliano F; Alessandri JL; Mathieu-Dramard M; Morin G; Bursztejn AC; Mignot C; Doummar D; Di Rocco F; Cornaton J; Nicolas C; Gautier E; Luu M; Bardou M; Sorlin A; Philippe C; Edery P; Rossi M; Carmignac V; Thauvin-Robinet C; Vabres P; Faivre L
Clin Genet; 2021 May; 99(5):650-661. PubMed ID: 33415748
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
