These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

301 related items for PubMed ID: 24357076

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. Phenotypic features of 1q41q42 microdeletion including WDR26 and FBXO28 are clinically recognizable: The first case from Japan.
    Yanagishita T, Yamamoto-Shimojima K, Nakano S, Sasaki T, Shigematsu H, Imai K, Yamamoto T.
    Brain Dev; 2019 May; 41(5):452-455. PubMed ID: 30635136
    [Abstract] [Full Text] [Related]

  • 3. 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; 167(6):1418-20. PubMed ID: 25900767
    [No Abstract] [Full Text] [Related]

  • 4. A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype.
    Balak C, Belnap N, Ramsey K, Joss S, Devriendt K, Naymik M, Jepsen W, Siniard AL, Szelinger S, Parker ME, Richholt R, Izatt T, LaFleur M, Terraf P, Llaci L, De Both M, Piras IS, Rangasamy S, Schrauwen I, Craig DW, Huentelman M, Narayanan V.
    Am J Med Genet A; 2018 Jul; 176(7):1549-1558. PubMed ID: 30160831
    [Abstract] [Full Text] [Related]

  • 5. 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 Jul; 54(1):42-9. PubMed ID: 20951845
    [Abstract] [Full Text] [Related]

  • 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; 9(9):607-16. PubMed ID: 17873649
    [Abstract] [Full Text] [Related]

  • 7. 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; 62(1):e13-e21. PubMed ID: 33280099
    [Abstract] [Full Text] [Related]

  • 8. High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.
    Ballif BC, Rosenfeld JA, Traylor R, Theisen A, Bader PI, Ladda RL, Sell SL, Steinraths M, Surti U, McGuire M, Williams S, Farrell SA, Filiano J, Schnur RE, Coffey LB, Tervo RC, Stroud T, Marble M, Netzloff M, Hanson K, Aylsworth AS, Bamforth JS, Babu D, Niyazov DM, Ravnan JB, Schultz RA, Lamb AN, Torchia BS, Bejjani BA, Shaffer LG.
    Hum Genet; 2012 Jan; 131(1):145-56. PubMed ID: 21800092
    [Abstract] [Full Text] [Related]

  • 9. Microdeletion of 12q24.31: report of a girl with intellectual disability, stereotypies, seizures and facial dysmorphisms.
    Palumbo O, Palumbo P, Delvecchio M, Palladino T, Stallone R, Crisetti M, Zelante L, Carella M.
    Am J Med Genet A; 2015 Feb; 167A(2):438-44. PubMed ID: 25428890
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. Delineation of the interstitial 6q25 microdeletion syndrome: refinement of the critical causative region.
    Michelson M, Ben-Sasson A, Vinkler C, Leshinsky-Silver E, Netzer I, Frumkin A, Kivity S, Lerman-Sagie T, Lev D.
    Am J Med Genet A; 2012 Jun 25; 158A(6):1395-9. PubMed ID: 22585544
    [Abstract] [Full Text] [Related]

  • 12. Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.
    Palomares M, Delicado A, Mansilla E, de Torres ML, Vallespín E, Fernandez L, Martinez-Glez V, García-Miñaur S, Nevado J, Simarro FS, Ruiz-Perez VL, Lynch SA, Sharkey FH, Thuresson AC, Annerén G, Belligni EF, Martínez-Fernández ML, Bermejo E, Nowakowska B, Kutkowska-Kazmierczak A, Bocian E, Obersztyn E, Martínez-Frías ML, Hennekam RC, Lapunzina P.
    Am J Hum Genet; 2011 Aug 12; 89(2):295-301. PubMed ID: 21802062
    [Abstract] [Full Text] [Related]

  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. Refinement of the deletion in 8q22.2-q22.3: the minimum deletion size at 8q22.3 related to intellectual disability and epilepsy.
    Kuroda Y, Ohashi I, Saito T, Nagai J, Ida K, Naruto T, Iai M, Kurosawa K.
    Am J Med Genet A; 2014 Aug 06; 164A(8):2104-8. PubMed ID: 24801133
    [Abstract] [Full Text] [Related]

  • 15. Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures.
    Williams SR, Mullegama SV, Rosenfeld JA, Dagli AI, Hatchwell E, Allen WP, Williams CA, Elsea SH.
    Eur J Hum Genet; 2010 Apr 06; 18(4):436-41. PubMed ID: 19904302
    [Abstract] [Full Text] [Related]

  • 16. A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion.
    Pons L, Cordier MP, Labalme A, Till M, Louvrier C, Schluth-Bolard C, Lesca G, Edery P, Sanlaville D.
    Am J Med Genet A; 2015 Jan 06; 167A(1):164-8. PubMed ID: 25425123
    [Abstract] [Full Text] [Related]

  • 17. 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 06; 164A(7):1815-20. PubMed ID: 24700535
    [Abstract] [Full Text] [Related]

  • 18.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 19.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 20.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 16.