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Journal Abstract Search

167 related items for 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
    [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
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  • 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
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  • 4.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Mirzaa G, Graham JM, Keppler-Noreuil K.
    ; 1993 Mar. PubMed ID: 23946963
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  • 5. 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, Care4Rare Canada ConsortiumChildren's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada., Kernohan KD, Boycott KM.
    Am J Med Genet A; 2024 Mar; 194(3):e63466. PubMed ID: 37949664
    [Abstract] [Full Text] [Related]

  • 6. The utility of cerebrospinal fluid-derived cell-free DNA in molecular diagnostics for the PIK3CA-related megalencephaly-capillary malformation (MCAP) syndrome: a case report.
    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
    [Abstract] [Full Text] [Related]

  • 7. 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
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  • 9. 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
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  • 15. 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
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  • 16. 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
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  • 18. 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
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  • 19. 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
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  • 20. 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
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