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Journal Abstract Search

141 related items for PubMed ID: 34199727

  • 1.
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  • 2.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Ballout RA, El-Hattab AW, Schaaf CP, Cheung SW.
    ; 1993. PubMed ID: 26962617
    [Abstract] [Full Text] [Related]

  • 3. Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review.
    El-Hattab AW, Schaaf CP, Fang P, Roeder E, Kimonis VE, Church JA, Patel A, Cheung SW.
    BMC Med Genet; 2015 Mar 14; 16():12. PubMed ID: 25927380
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  • 5. Prenatal diagnosis of de novo int22h1/int22h2-mediated Xq28 duplication syndrome involving RAB39B following a previous ambiguous genitalia pregnancy.
    Chien YC, Chen JS, Shiao YM, Hsiao CH.
    Taiwan J Obstet Gynecol; 2022 May 14; 61(3):501-503. PubMed ID: 35595445
    [Abstract] [Full Text] [Related]

  • 6. Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes.
    Sinibaldi L, Parisi V, Lanciotti S, Fontana P, Kuechler A, Baujat G, Torres B, Koetting J, Splendiani A, Postorivo D, Beygo J, Garaci FG, Malan V, Lüdecke HJ, Guida V, Krumbiegel M, Lonardo F, Novelli A, Albrecht B, Perria C, Scarano G, Spielmann M, Nardone AM, Battaglia A, Brancati F, Bernardini L.
    Clin Genet; 2019 Sep 14; 96(3):246-253. PubMed ID: 31090057
    [Abstract] [Full Text] [Related]

  • 7. 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 06; 16(1):43. PubMed ID: 36879246
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  • 8. Intellectual disability and epilepsy due to the K/L-mediated Xq28 duplication: Further evidence of a distinct, dosage-dependent phenotype.
    Ward DI, Buckley BA, Leon E, Diaz J, Galegos MF, Hofherr S, Lewanda AF.
    Am J Med Genet A; 2018 Mar 06; 176(3):551-559. PubMed ID: 29341460
    [Abstract] [Full Text] [Related]

  • 9. Xq28 duplication overlapping the int22h-1/int22h-2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability.
    Andersen EF, Baldwin EE, Ellingwood S, Smith R, Lamb AN.
    Am J Med Genet A; 2014 Jul 06; 164A(7):1795-801. PubMed ID: 24700761
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  • 12. Chromosome Xq28 duplication encompassing MECP2: Clinical and molecular analysis of 16 new patients from 10 families in China.
    Yi Z, Pan H, Li L, Wu H, Wang S, Ma Y, Qi Y.
    Eur J Med Genet; 2016 Jun 06; 59(6-7):347-53. PubMed ID: 27180140
    [Abstract] [Full Text] [Related]

  • 13. Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.
    El Chehadeh S, Faivre L, Mosca-Boidron AL, Malan V, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Callier P, Lefebvre M, Marle N, Dubourg C, Julia S, Sarret C, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Le Caignec C, Vigneron J, Leheup B, Lambert L, Philippe C, Cuisset JM, Andrieux J, Plessis G, Toutain A, Goldenberg A, Cormier-Daire V, Rio M, Bonnefont JP, Thevenon J, Echenne B, Journel H, Afenjar A, Burglen L, Bienvenu T, Addor MC, Lebon S, Martinet D, Baumann C, Perrin L, Drunat S, Jouk PS, Devillard F, Coutton C, Lacombe D, Delrue MA, Philip N, Moncla A, Badens C, Perreton N, Masurel A, Thauvin-Robinet C, Des Portes V, Guibaud L.
    Am J Med Genet A; 2016 Jan 06; 170A(1):116-29. PubMed ID: 26420639
    [Abstract] [Full Text] [Related]

  • 14. 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 06; 95(5):575-581. PubMed ID: 30788845
    [Abstract] [Full Text] [Related]

  • 15. 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 06; 182(4):619-622. PubMed ID: 32052928
    [Abstract] [Full Text] [Related]

  • 16. Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?
    El Chehadeh S, Touraine R, Prieur F, Reardon W, Bienvenu T, Chantot-Bastaraud S, Doco-Fenzy M, Landais E, Philippe C, Marle N, Callier P, Mosca-Boidron AL, Mugneret F, Le Meur N, Goldenberg A, Guerrot AM, Chambon P, Satre V, Coutton C, Jouk PS, Devillard F, Dieterich K, Afenjar A, Burglen L, Moutard ML, Addor MC, Lebon S, Martinet D, Alessandri JL, Doray B, Miguet M, Devys D, Saugier-Veber P, Drunat S, Aral B, Kremer V, Rondeau S, Tabet AC, Thevenon J, Thauvin-Robinet C, Perreton N, Des Portes V, Faivre L.
    Clin Genet; 2017 Apr 06; 91(4):576-588. PubMed ID: 27761913
    [Abstract] [Full Text] [Related]

  • 17. Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation.
    Bijlsma EK, Collins A, Papa FT, Tejada MI, Wheeler P, Peeters EA, Gijsbers AC, van de Kamp JM, Kriek M, Losekoot M, Broekma AJ, Crolla JA, Pollazzon M, Mucciolo M, Katzaki E, Disciglio V, Ferreri MI, Marozza A, Mencarelli MA, Castagnini C, Dosa L, Ariani F, Mari F, Canitano R, Hayek G, Botella MP, Gener B, Mínguez M, Renieri A, Ruivenkamp CA.
    Eur J Med Genet; 2012 Jun 06; 55(6-7):404-13. PubMed ID: 22522176
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  • 19. 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 06; 35(5):411-9. PubMed ID: 22877836
    [Abstract] [Full Text] [Related]

  • 20. Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28.
    Reardon W, Donoghue V, Murphy AM, King MD, Mayne PD, Horn N, Birk Møller L.
    Eur J Pediatr; 2010 Aug 06; 169(8):941-9. PubMed ID: 20177701
    [Abstract] [Full Text] [Related]

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