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Journal Abstract Search

629 related items for PubMed ID: 27708714

  • 21. Lack of MECP2 gene transcription on the duplicated alleles of two related asymptomatic females with Xq28 duplications and opposite X-chromosome inactivation skewing.
    Sun Y, Yang Y, Luo Y, Chen M, Wang L, Huang Y, Yang Y, Dong M.
    Hum Mutat; 2021 Nov; 42(11):1429-1442. PubMed ID: 34273908
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  • 22. Inherited duplication of the pseudoautosomal region Xq28 in a subject with Gilles de la Tourette syndrome and intellectual disability: a case report.
    Maccarini S, Cipani A, Bertini V, Skripac J, Salvi A, Borsani G, Marchina E.
    Mol Cytogenet; 2020 Nov; 13():23. PubMed ID: 32582378
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  • 23. 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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  • 24. 15q24.1 BP4-BP1 microdeletion unmasking paternally inherited functional polymorphisms combined with distal 15q24.2q24.3 duplication in a patient with epilepsy, psychomotor delay, overweight, ventricular arrhythmia.
    Huynh MT, Lambert AS, Tosca L, Petit F, Philippe C, Parisot F, Benoît V, Linglart A, Brisset S, Tran CT, Tachdjian G, Receveur A.
    Eur J Med Genet; 2018 Aug 06; 61(8):459-464. PubMed ID: 29549028
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  • 27. A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome.
    Riehmer V, Erger F, Herkenrath P, Seland S, Jackels M, Wiater A, Heller R, Beck BB, Netzer C.
    Am J Med Genet A; 2017 Aug 06; 173(8):2132-2138. PubMed ID: 28574232
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  • 28. Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature.
    Upadhyai P, Amiri EF, Guleria VS, Bielas SL, Girisha KM, Shukla A.
    Clin Dysmorphol; 2020 Jul 06; 29(3):127-131. PubMed ID: 32459673
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  • 29. De novo interstitial triplication of MECP2 in a girl with neurodevelopmental disorder and random X chromosome inactivation.
    Mayo S, Monfort S, Roselló M, Orellana C, Oltra S, Armstrong J, Català V, Martínez F.
    Cytogenet Genome Res; 2011 Jul 06; 135(2):93-101. PubMed ID: 21934280
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  • 30. X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.
    Møller RS, Jensen LR, Maas SM, Filmus J, Capurro M, Hansen C, Marcelis CL, Ravn K, Andrieux J, Mathieu M, Kirchhoff M, Rødningen OK, de Leeuw N, Yntema HG, Froyen G, Vandewalle J, Ballon K, Klopocki E, Joss S, Tolmie J, Knegt AC, Lund AM, Hjalgrim H, Kuss AW, Tommerup N, Ullmann R, de Brouwer AP, Strømme P, Kjaergaard S, Tümer Z, Kleefstra T.
    Hum Genet; 2014 May 06; 133(5):625-38. PubMed ID: 24326587
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  • 32. 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
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  • 33. The int22h1/int22h2-Mediated Xq28 Duplication Syndrome: An Intersection between Neurodevelopment, Immunology, and Cancer.
    Ballout RA, El-Hattab AW.
    Genes (Basel); 2021 Jun 04; 12(6):. PubMed ID: 34199727
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  • 34. Case Report: Chinese female patients with a heterozygous pathogenic RPS6KA3 gene variant c.898C>T and distal 22q11.2 microdeletion.
    Cong Y, Jin H, Wu K, Wang H, Wang D.
    Front Genet; 2022 Jun 04; 13():900226. PubMed ID: 36046249
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  • 35. Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration.
    Magini P, Poscente M, Ferrari S, Vargiolu M, Bacchelli E, Graziano C, Wischmeijer A, Turchetti D, Malaspina E, Marchiani V, Cordelli DM, Franzoni E, Romeo G, Seri M.
    Mol Cytogenet; 2015 Jun 04; 8():58. PubMed ID: 26236399
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  • 36. 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 04; 182(4):619-622. PubMed ID: 32052928
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  • 37. A Recurrent De Novo Terminal Duplication of 14q32 in Korean Siblings Associated with Developmental Delay and Intellectual Disability, Growth Retardation, Facial Dysmorphism, and Cerebral Infarction: A Case Report and Literature Review.
    Han JY, Park J.
    Genes (Basel); 2021 Sep 07; 12(9):. PubMed ID: 34573370
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  • 38. Methyl-CpG-Binding protein 2 duplication syndrome in a Chinese patient: A case report and review of the literature.
    Xing XH, Takam R, Bao XY, Ba-Alwi NA, Ji H.
    World J Clin Cases; 2023 Sep 26; 11(27):6505-6514. PubMed ID: 37900250
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  • 40. Familial 5q12.3 Microdeletion: Evidence for a Locus Associated with Epilepsy.
    Gnan C, Franzoni A, Baldan F, Passon N, Damante G, Dello Russo P.
    Mol Syndromol; 2017 Mar 26; 8(2):98-102. PubMed ID: 28611550
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