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Journal Abstract Search

149 related items for PubMed ID: 23542665

  • 1. 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; 56(6):309-13. PubMed ID: 23542665
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  • 2. 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 Jun; 54(1):42-9. PubMed ID: 20951845
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  • 3. Chromosome 2p15p16.1 microdeletion syndrome: 2.5 Mb deletion in a patient with renal anomalies, intractable seizures and a choledochal cyst.
    Hucthagowder V, Liu TC, Paciorkowski AR, Thio LL, Keller MS, Anderson CD, Herman T, Dehner LP, Grange DK, Kulkarni S.
    Eur J Med Genet; 2012 Jun; 55(8-9):485-9. PubMed ID: 22579565
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  • 4. 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; 152A(4):987-93. PubMed ID: 20358614
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  • 7. An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities.
    Bremer A, Schoumans J, Nordenskjöld M, Anderlid BM, Giacobini M.
    Eur J Med Genet; 2009 Apr; 52(5):358-62. PubMed ID: 19576304
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  • 8. 2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features.
    Noh GJ, Graham JM.
    Eur J Med Genet; 2012 May; 55(5):354-7. PubMed ID: 22659271
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  • 9. Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion.
    Hickey SE, Biswas S, Thrush DL, Pyatt RE, Gastier-Foster JM, Astbury C, Atkin J.
    Eur J Med Genet; 2013 Sep; 56(9):521-5. PubMed ID: 23895773
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  • 10. 16p11.2 de novo microdeletion encompassing SRCAP gene in a patient with speech impairment, global developmental delay and behavioural problems.
    Gerundino F, Marseglia G, Pescucci C, Pelo E, Benelli M, Giachini C, Federighi B, Antonelli C, Torricelli F.
    Eur J Med Genet; 2014 Sep; 57(11-12):649-53. PubMed ID: 25451714
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  • 11. 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; 60(2):341-344. PubMed ID: 33678339
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  • 14. Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures.
    Au PY, Argiropoulos B, Parboosingh JS, Micheil Innes A.
    Am J Med Genet A; 2014 Feb; 164A(2):441-8. PubMed ID: 24357076
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  • 15. A de novo 163 kb interstitial 1q44 microdeletion in a boy with thin corpus callosum, psychomotor delay and seizures.
    Selmer KK, Bryne E, Rødningen OK, Fannemel M.
    Eur J Med Genet; 2012 Dec; 55(12):715-8. PubMed ID: 22975012
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  • 16. A 797 kb de novo deletion of 18q21.31 in a patient with speech delay, mental retardation, sleeping problems, facial dysmorphism, and feet anomalies.
    van Diepen MM, Gijsbers AC, Bosch CA, Oudesluys-Murphy AM, Ruivenkamp CA, Bijlsma EK.
    Eur J Med Genet; 2011 Dec; 54(1):86-8. PubMed ID: 20870045
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  • 17. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.
    Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Brailey LL, Zuberi SM, Carey JC.
    Pediatrics; 2008 Feb; 121(2):404-10. PubMed ID: 18245432
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  • 18. Refinement of the critical 7p22.1 deletion region: Haploinsufficiency of ACTB is the cause of the 7p22.1 microdeletion-related developmental disorders.
    Palumbo O, Accadia M, Palumbo P, Leone MP, Scorrano A, Palladino T, Stallone R, Bonaglia MC, Carella M.
    Eur J Med Genet; 2018 May; 61(5):248-252. PubMed ID: 29274487
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  • 19. 2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features.
    Noh GJ, Graham JM.
    Eur J Med Genet; 2012 Jan; 55(1):59-62. PubMed ID: 22085995
    [Abstract] [Full Text] [Related]

  • 20. Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH.
    Kantarci S, Ackerman KG, Russell MK, Longoni M, Sougnez C, Noonan KM, Hatchwell E, Zhang X, Pieretti Vanmarcke R, Anyane-Yeboa K, Dickman P, Wilson J, Donahoe PK, Pober BR.
    Am J Med Genet A; 2010 Oct; 152A(10):2493-504. PubMed ID: 20799323
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