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Journal Abstract Search

132 related items for PubMed ID: 30635136

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  • 4. New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome.
    Rosenfeld JA, Lacassie Y, El-Khechen D, Escobar LF, Reggin J, Heuer C, Chen E, Jenkins LS, Collins AT, Zinner S, Babcock M, Morrow B, Schultz RA, Torchia BS, Ballif BC, Tsuchiya KD, Shaffer LG.
    Eur J Med Genet; 2011; 54(1):42-9. PubMed ID: 20951845
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  • 5. WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.
    Skraban CM, Wells CF, Markose P, Cho MT, Nesbitt AI, Au PYB, Begtrup A, Bernat JA, Bird LM, Cao K, de Brouwer APM, Denenberg EH, Douglas G, Gibson KM, Grand K, Goldenberg A, Innes AM, Juusola J, Kempers M, Kinning E, Markie DM, Owens MM, Payne K, Person R, Pfundt R, Stocco A, Turner CLS, Verbeek NE, Walsh LE, Warner TC, Wheeler PG, Wieczorek D, Wilkens AB, Zonneveld-Huijssoon E, Deciphering Developmental Disorders StudyWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Kleefstra T, Robertson SP, Santani A, van Gassen KLI, Deardorff MA.
    Am J Hum Genet; 2017 Jul 06; 101(1):139-148. PubMed ID: 28686853
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  • 6. The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.
    Shaffer LG, Theisen A, Bejjani BA, Ballif BC, Aylsworth AS, Lim C, McDonald M, Ellison JW, Kostiner D, Saitta S, Shaikh T.
    Genet Med; 2007 Sep 06; 9(9):607-16. PubMed ID: 17873649
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  • 7. FBXO28 is a critical gene of the 1q41q42 microdeletion syndrome.
    Cassina M, Rigon C, Casarin A, Vicenzi V, Salviati L, Clementi M.
    Am J Med Genet A; 2015 Jun 06; 167(6):1418-20. PubMed ID: 25900767
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  • 8. FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.
    Schneider AL, Myers CT, Muir AM, Calvert S, Basinger A, Perry MS, Rodan L, Helbig KL, Chambers C, Gorman KM, King MD, Donkervoort S, Soldatos A, Bönnemann CG, Spataro N, Gabau E, Arellano M, Cappuccio G, Brunetti-Pierri N, Rossignol E, Hamdan FF, Michaud JL, Balak C, Mefford HC, Scheffer IE.
    Epilepsia; 2021 Jan 06; 62(1):e13-e21. PubMed ID: 33280099
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  • 9. 3' UTR Deletion of FBXO28 in a Patient with Brain Abnormalities and Developmental Delay.
    Bi X, Mulhern MS, Spiegel E, Wapner RJ, Levy B, Bain JM, Liao J.
    Genes (Basel); 2023 Aug 25; 14(9):. PubMed ID: 37761828
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  • 10. Molecular cytogenetic characterization of a de novo chromosome 1q41-q42.11 microdeletion of paternal origin in a 15-year-old boy with mental retardation, developmental delay, autism and congenital heart defects.
    Chen CP, Chern SR, Wu PS, Chen SW, Wu FT, Wang W.
    Taiwan J Obstet Gynecol; 2021 Mar 25; 60(2):341-344. PubMed ID: 33678339
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  • 11. Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25.
    Burkardt DD, Rosenfeld JA, Helgeson ML, Angle B, Banks V, Smith WE, Gripp KW, Moline J, Moran RT, Niyazov DM, Stevens CA, Zackai E, Lebel RR, Ashley DG, Kramer N, Lachman RS, Graham JM.
    Am J Med Genet A; 2011 Jun 25; 155A(6):1336-51. PubMed ID: 21548129
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  • 12. Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome.
    Filges I, Röthlisberger B, Boesch N, Weber P, Wenzel F, Huber AR, Heinimann K, Miny P.
    Am J Med Genet A; 2010 Apr 25; 152A(4):987-93. PubMed ID: 20358614
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  • 13. Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome.
    Palumbo P, Accadia M, Leone MP, Palladino T, Stallone R, Carella M, Palumbo O.
    Am J Med Genet A; 2018 Feb 25; 176(2):391-398. PubMed ID: 29193617
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  • 15. A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis.
    Aagaard Nolting L, Brasch-Andersen C, Cox H, Kanani F, Parker M, Fry AE, Loddo S, Novelli A, Dentici ML, Joss S, Jørgensen JP, Fagerberg CR.
    Clin Genet; 2020 Jun 25; 97(6):927-932. PubMed ID: 32170730
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  • 16. Clinical characterization of DISP1 haploinsufficiency: A case report.
    Jun KR, Hur YJ, Lee JN, Kim HR, Shin JH, Oh SH, Lee JY, Seo EJ.
    Eur J Med Genet; 2013 Jun 25; 56(6):309-13. PubMed ID: 23542665
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  • 17. The crucial role of FBXO28 in the pathogenesis of the 1q41q42 microdeletion syndrome.
    Papetti L, Schettini L, Garone G, Gennaro E, Malacarne M, Properzi E, Spalice A.
    Am J Med Genet A; 2016 Nov 25; 170(11):3041-3042. PubMed ID: 27184008
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  • 18. ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome.
    Zak J, Vives V, Szumska D, Vernet A, Schneider JE, Miller P, Slee EA, Joss S, Lacassie Y, Chen E, Escobar LF, Tucker M, Aylsworth AS, Dubbs HA, Collins AT, Andrieux J, Dieux-Coeslier A, Haberlandt E, Kotzot D, Scott DA, Parker MJ, Zakaria Z, Choy YS, Wieczorek D, Innes AM, Jun KR, Zinner S, Prin F, Lygate CA, Pretorius P, Rosenfeld JA, Mohun TJ, Lu X.
    Cell Death Differ; 2016 Dec 25; 23(12):1973-1984. PubMed ID: 27447114
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  • 19. Compound heterozygous microdeletion of chromosome 15q13.3 region in a child with hypotonia, impaired vision, and global developmental delay.
    Prasun P, Hankerd M, Kristofice M, Scussel L, Sivaswamy L, Ebrahim S.
    Am J Med Genet A; 2014 Jul 25; 164A(7):1815-20. PubMed ID: 24700535
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  • 20. A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed in WAC mutations and strengthens the role of WAC in intellectual disability and behavior disorders.
    Abdelhedi F, El Khattabi L, Essid N, Viot G, Letessier D, Lebbar A, Dupont JM.
    Am J Med Genet A; 2016 Jul 25; 170(7):1912-7. PubMed ID: 27119754
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