176 related articles for article (PubMed ID: 33415748)
1. 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]
2. Severe holocord syrinx in a child with megalencephaly-capillary malformation syndrome.
Segal D; Heary RF; Sabharwal S; Barry MT; Ming X
J Neurosurg Pediatr; 2016 Jul; 18(1):79-82. PubMed ID: 27035547
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
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. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. Wilms tumor screening in diffuse capillary malformation with overgrowth and macrocephaly-capillary malformation: A retrospective study.
Peterman CM; Vadeboncoeur S; Mulliken JB; Fishman SJ; Liang MG
J Am Acad Dermatol; 2017 Nov; 77(5):874-878. PubMed ID: 28822558
[TBL] [Abstract][Full Text] [Related]
12. One of the First Cases with PIK3CA-related Overgrowth Spectrum (PROS) in Saudi Arabia: A Case Report and Literature Review.
Alsaedi SA; Qurashi O; Bajunaid M; Altalhi AA; Shawli AM
Cureus; 2020 Jan; 12(1):e6586. PubMed ID: 31929958
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome.
Swarr DT; Khalek N; Treat J; Horton MA; Mirzaa GM; Riviere JB; Dobyns WB; Zackai EH
Prenat Diagn; 2013 Oct; 33(10):1010-2. PubMed ID: 23754335
[No Abstract] [Full Text] [Related]
15. Brain Abnormalities in PIK3CA-Related Overgrowth Spectrum: Physician, Patient, and Caregiver Experiences.
Dexheimer J; Mirzaa GM
Adv Ther; 2022 Sep; 39(9):3871-3880. PubMed ID: 35857185
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Clinical overlap between CLAPO syndrome and macrocephaly-capillary malformation syndrome.
Ivars M; Boixeda P; Triana P; Martinez-Glez V; Rodríguez-Laguna L; Agra N; López-Gutiérrez JC
J Dtsch Dermatol Ges; 2020 May; 18(5):479-482. PubMed ID: 32413215
[No Abstract] [Full Text] [Related]
18. Surgical management of Chiari malformation type 1 associated to MCAP syndrome and study of cerebellar and adjacent tissues for PIK3CA mosaicism.
Di Rocco F; Licci ML; Garde A; Mottolese C; Thauvin-Robinet C; Chevarin M; Guibaud L; Vabres P; Kuentz P; Faivre L
Eur J Med Genet; 2023 Feb; 66(2):104678. PubMed ID: 36503153
[TBL] [Abstract][Full Text] [Related]
19. 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]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]