Literature DB >> 23599693

Late breaking chromosomes.

Martin Poot.   

Abstract

Year:  2013        PMID： 23599693      PMCID： PMC3569100          DOI： 10.1159/000343747

Source DB:  PubMed          Journal:  Mol Syndromol        ISSN： 1661-8769


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  10 in total

Review 1.  Genetics of early onset cognitive impairment.

Authors:  Hans Hilger Ropers
Journal:  Annu Rev Genomics Hum Genet       Date:  2010       Impact factor: 8.929

2.  Multiple meiotic errors caused by predivision of chromatids in women of advanced maternal age undergoing in vitro fertilisation.

Authors:  Alan H Handyside; Markus Montag; M Cristina Magli; Sjoerd Repping; Joyce Harper; Andreas Schmutzler; Katerina Vesela; Luca Gianaroli; Joep Geraedts
Journal:  Eur J Hum Genet       Date:  2012-02-08       Impact factor: 4.246

3.  Amino acid difference formula to help explain protein evolution.

Authors:  R Grantham
Journal:  Science       Date:  1974-09-06       Impact factor: 47.728

4.  Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems.

Authors:  Stephen R Williams; Micheala A Aldred; Vazken M Der Kaloustian; Fahed Halal; Gordon Gowans; D Ross McLeod; Sara Zondag; Helga V Toriello; R Ellen Magenis; Sarah H Elsea
Journal:  Am J Hum Genet       Date:  2010-08-13       Impact factor: 11.025

5.  A method and server for predicting damaging missense mutations.

Authors:  Ivan A Adzhubei; Steffen Schmidt; Leonid Peshkin; Vasily E Ramensky; Anna Gerasimova; Peer Bork; Alexey S Kondrashov; Shamil R Sunyaev
Journal:  Nat Methods       Date:  2010-04       Impact factor: 28.547

6.  X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face.

Authors:  Magdalena Harakalova; Marie-Jose van den Boogaard; Richard Sinke; Stef van Lieshout; Marc C van Tuil; Karen Duran; Ivo Renkens; Paulien A Terhal; Carolien de Kovel; Ies J Nijman; Mieke van Haelst; Nine V A M Knoers; Gijs van Haaften; Wigard Kloosterman; Raoul C M Hennekam; Edwin Cuppen; Hans Kristian Ploos van Amstel
Journal:  J Med Genet       Date:  2012-08       Impact factor: 6.318

Review 7.  Cornelia de Lange syndrome, cohesin, and beyond.

Authors:  J Liu; I D Krantz
Journal:  Clin Genet       Date:  2009-10       Impact factor: 4.438

8.  Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders.

Authors:  H M Ozgen; E van Daalen; P F Bolton; V K Maloney; S Huang; L Cresswell; M J van den Boogaard; M J Eleveld; R van 't Slot; R Hochstenbach; F A Beemer; M Barrow; J C K Barber; M Poot
Journal:  Clin Genet       Date:  2009-10       Impact factor: 4.438

9.  SIFT web server: predicting effects of amino acid substitutions on proteins.

Authors:  Ngak-Leng Sim; Prateek Kumar; Jing Hu; Steven Henikoff; Georg Schneider; Pauline C Ng
Journal:  Nucleic Acids Res       Date:  2012-06-11       Impact factor: 16.971

10.  HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.

Authors:  Matthew A Deardorff; Masashige Bando; Ryuichiro Nakato; Erwan Watrin; Takehiko Itoh; Masashi Minamino; Katsuya Saitoh; Makiko Komata; Yuki Katou; Dinah Clark; Kathryn E Cole; Elfride De Baere; Christophe Decroos; Nataliya Di Donato; Sarah Ernst; Lauren J Francey; Yolanda Gyftodimou; Kyotaro Hirashima; Melanie Hullings; Yuuichi Ishikawa; Christian Jaulin; Maninder Kaur; Tohru Kiyono; Patrick M Lombardi; Laura Magnaghi-Jaulin; Geert R Mortier; Naohito Nozaki; Michael B Petersen; Hiroyuki Seimiya; Victoria M Siu; Yutaka Suzuki; Kentaro Takagaki; Jonathan J Wilde; Patrick J Willems; Claude Prigent; Gabriele Gillessen-Kaesbach; David W Christianson; Frank J Kaiser; Laird G Jackson; Toru Hirota; Ian D Krantz; Katsuhiko Shirahige
Journal:  Nature       Date:  2012-09-13       Impact factor: 49.962
  10 in total

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