BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

163 related articles for article (PubMed ID: 35702943)

  • 1. Exploring the characteristics and most bothersome symptoms in MECP2 duplication syndrome to pave the path toward developing parent-oriented outcome measures.
    Ak M; Suter B; Akturk Z; Harris H; Bowyer K; Mignon L; Pasupuleti S; Glaze DG; Pehlivan D
    Mol Genet Genomic Med; 2022 Aug; 10(8):e1989. PubMed ID: 35702943
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Exploring gastrointestinal health in MECP2 duplication syndrome.
    Pehlivan D; Ak M; Glaze DG; Suter B; Motil KJ
    Neurogastroenterol Motil; 2023 Aug; 35(8):e14601. PubMed ID: 37122114
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Phenotypic features in MECP2 duplication syndrome: Effects of age.
    Peters SU; Fu C; Marsh ED; Benke TA; Suter B; Skinner SA; Lieberman DN; Standridge S; Jones M; Beisang A; Feyma T; Heydeman P; Ryther R; Glaze DG; Percy AK; Neul JL
    Am J Med Genet A; 2021 Feb; 185(2):362-369. PubMed ID: 33170557
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome.
    Peters SU; Fu C; Suter B; Marsh E; Benke TA; Skinner SA; Lieberman DN; Standridge S; Jones M; Beisang A; Feyma T; Heydeman P; Ryther R; Kaufmann WE; Glaze DG; Neul JL; Percy AK
    Clin Genet; 2019 May; 95(5):575-581. PubMed ID: 30788845
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Cortisol profiles and clinical severity in MECP2 duplication syndrome.
    Peters SU; Fu C; Neul JL; Granger DA
    J Neurodev Disord; 2020 Jul; 12(1):19. PubMed ID: 32698758
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Assessing the Burden on Caregivers of MECP2 Duplication Syndrome.
    Ak M; Akturk Z; Bowyer K; Mignon L; Pasupuleti S; Glaze DG; Suter B; Pehlivan D
    Pediatr Neurol; 2022 Aug; 133():1-8. PubMed ID: 35716604
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Moya moya vasculopathy and MECP2 duplication syndrome.
    Holover G; Adams D; Milligan D; Goldberg R; Rios J; Kornitzer J; Mazzola C
    Childs Nerv Syst; 2024 Mar; 40(3):809-812. PubMed ID: 37804337
    [TBL] [Abstract][Full Text] [Related]  

  • 8. MECP2 duplication syndrome in a patient from Cameroon.
    Tekendo-Ngongang C; Dahoun S; Nguefack S; Moix I; Gimelli S; Zambo H; Morris MA; Sloan-Béna F; Wonkam A
    Am J Med Genet A; 2020 Apr; 182(4):619-622. PubMed ID: 32052928
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Early diagnosis of MECP2 duplication syndrome: Insights from a nationwide survey in Japan.
    Takeguchi R; Takahashi S; Akaba Y; Tanaka R; Nabatame S; Kurosawa K; Matsuishi T; Itoh M
    J Neurol Sci; 2021 Mar; 422():117321. PubMed ID: 33516938
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Spectrum and time course of epilepsy and the associated cognitive decline in
    Marafi D; Suter B; Schultz R; Glaze D; Pavlik VN; Goldman AM
    Neurology; 2019 Jan; 92(2):e108-e114. PubMed ID: 30552298
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Further delineation of the
    Miguet M; Faivre L; Amiel J; Nizon M; Touraine R; Prieur F; Pasquier L; Lefebvre M; Thevenon J; Dubourg C; Julia S; Sarret C; Remerand G; Francannet C; Laffargue F; Boespflug-Tanguy O; David A; Isidor B; Vigneron J; Leheup B; Lambert L; Philippe C; Béri-Dexheimer M; Cuisset JM; Andrieux J; Plessis G; Toutain A; Guibaud L; Cormier-Daire V; Rio M; Bonnefont JP; Echenne B; Journel H; Burglen L; Chantot-Bastaraud S; Bienvenu T; Baumann C; Perrin L; Drunat S; Jouk PS; Dieterich K; Devillard F; Lacombe D; Philip N; Sigaudy S; Moncla A; Missirian C; Badens C; Perreton N; Thauvin-Robinet C; AChro-Puce R; Pedespan JM; Rooryck C; Goizet C; Vincent-Delorme C; Duban-Bedu B; Bahi-Buisson N; Afenjar A; Maincent K; Héron D; Alessandri JL; Martin-Coignard D; Lesca G; Rossi M; Raynaud M; Callier P; Mosca-Boidron AL; Marle N; Coutton C; Satre V; Caignec CL; Malan V; Romana S; Keren B; Tabet AC; Kremer V; Scheidecker S; Vigouroux A; Lackmy-Port-Lis M; Sanlaville D; Till M; Carneiro M; Gilbert-Dussardier B; Willems M; Van Esch H; Portes VD; El Chehadeh S
    J Med Genet; 2018 Jun; 55(6):359-371. PubMed ID: 29618507
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome.
    Akahoshi K; Nakagawa E; Goto YI; Inoue K
    BMC Med Genomics; 2023 Mar; 16(1):43. PubMed ID: 36879246
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Electroencephalographic and epilepsy findings in mecp2 duplication syndrome. A family study.
    Lotti F; Geronzi U; Grosso S
    Brain Dev; 2019 May; 41(5):456-459. PubMed ID: 30642617
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Molecular characterization of Spanish patients with MECP2 duplication syndrome.
    Pascual-Alonso A; Blasco L; Vidal S; Gean E; Rubio P; O'Callaghan M; Martínez-Monseny AF; Castells AA; Xiol C; Català V; Brandi N; Pacheco P; Ros C; Del Campo M; Guillén E; Ibañez S; Sánchez MJ; Lapunzina P; Nevado J; Santos F; Lloveras E; Ortigoza-Escobar JD; Tejada MI; Maortua H; Martínez F; Orellana C; Roselló M; Mesas MA; Obón M; Plaja A; Fernández-Ramos JA; Tizzano E; Marín R; Peña-Segura JL; Alcántara S; Armstrong J
    Clin Genet; 2020 Apr; 97(4):610-620. PubMed ID: 32043567
    [TBL] [Abstract][Full Text] [Related]  

  • 15. MECP2 and the biology of MECP2 duplication syndrome.
    D'Mello SR
    J Neurochem; 2021 Oct; 159(1):29-60. PubMed ID: 33638179
    [TBL] [Abstract][Full Text] [Related]  

  • 16. How Families Manage the Complex Medical Needs of Their Children with
    John Cherian D; Ta D; Smith J; Downs J; Leonard H
    Children (Basel); 2023 Jul; 10(7):. PubMed ID: 37508699
    [No Abstract]   [Full Text] [Related]  

  • 17. Recurrent pneumonia in three patients with MECP2 duplication syndrome with aspiration as the possible cause.
    Sugitate R; Muramatsu K; Ogata T; Goto M; Hayashi S; Sawaura N; Kawada-Nagashima M; Matsui A; Yamagata T
    Brain Dev; 2022 Aug; 44(7):486-491. PubMed ID: 35351320
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Expanding the clinical picture of the MECP2 Duplication syndrome.
    Lim Z; Downs J; Wong K; Ellaway C; Leonard H
    Clin Genet; 2017 Apr; 91(4):557-563. PubMed ID: 27247049
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family.
    Li X; Xie H; Chen Q; Yu X; Yi Z; Li E; Zhang T; Wang J; Zhong J; Chen X
    BMC Med Genet; 2017 Nov; 18(1):131. PubMed ID: 29141583
    [TBL] [Abstract][Full Text] [Related]  

  • 20. MECP2 duplication syndrome in both genders.
    Shimada S; Okamoto N; Ito M; Arai Y; Momosaki K; Togawa M; Maegaki Y; Sugawara M; Shimojima K; Osawa M; Yamamoto T
    Brain Dev; 2013 May; 35(5):411-9. PubMed ID: 22877836
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.