Literature DB >> 15723327

Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome.

Noriko Miyake, Remco Visser, Akira Kinoshita, Ko-ichiro Yoshiura, Norio Niikawa, Tatsuro Kondoh, Naomichi Matsumoto, Naoki Harada, Nobuhiko Okamoto, Tohru Sonoda, Kenji Naritomi, Tadashi Kaname, Yasutsugu Chinen, Hidefumi Tonoki, Kenji Kurosawa.   

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Year:  2005        PMID： 15723327     DOI： 10.1002/ajmg.a.30637

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  14 in total

Review 1.  Roles of the sister chromatid cohesion apparatus in gene expression, development, and human syndromes.

Authors:  Dale Dorsett
Journal:  Chromosoma       Date:  2006-07-04       Impact factor: 4.316

2.  Effects of sister chromatid cohesion proteins on cut gene expression during wing development in Drosophila.

Authors:  Dale Dorsett; Joel C Eissenberg; Ziva Misulovin; Andrew Martens; Bethany Redding; Kim McKim
Journal:  Development       Date:  2005-10-05       Impact factor: 6.868

3.  Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience.

Authors:  Z A Bhuiyan; M Klein; P Hammond; A van Haeringen; M M A M Mannens; I Van Berckelaer-Onnes; R C M Hennekam
Journal:  J Med Genet       Date:  2005-10-19       Impact factor: 6.318

4.  A Behavioural Assessment of Social Anxiety and Social Motivation in Fragile X, Cornelia de Lange and Rubinstein-Taybi Syndromes.

Authors:  Hayley Crawford; Joanna Moss; Laura Groves; Robyn Dowlen; Lisa Nelson; Donna Reid; Chris Oliver
Journal:  J Autism Dev Disord       Date:  2020-01

5.  Functional links between Drosophila Nipped-B and cohesin in somatic and meiotic cells.

Authors:  Maria Gause; Hayley A Webber; Ziva Misulovin; Gabe Haller; Robert A Rollins; Joel C Eissenberg; Sharon E Bickel; Dale Dorsett
Journal:  Chromosoma       Date:  2007-10-02       Impact factor: 4.316

6.  An experimental study of executive function and social impairment in Cornelia de Lange syndrome.

Authors:  Lisa Nelson; Hayley Crawford; Donna Reid; Joanna Moss; Chris Oliver
Journal:  J Neurodev Disord       Date:  2017-09-11       Impact factor: 4.025

7.  Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community.

Authors:  Andrew K Sobering; Dong Li; Jennifer S Beighley; John C Carey; Tyhiesia Donald; Sarah H Elsea; Karla P Figueroa; Jennifer Gerdts; Andre Hamlet; Ghayda M Mirzaa; Beverly Nelson; Stefan M Pulst; Janice L Smith; Flora Tassone; Helga V Toriello; Ruth H Walker; Katherine R Yearwood; Elizabeth J Bhoj
Journal:  Am J Med Genet C Semin Med Genet       Date:  2020-12-04       Impact factor: 3.908

8.  Transcriptional dysregulation in NIPBL and cohesin mutant human cells.

Authors:  Jinglan Liu; Zhe Zhang; Masashige Bando; Takehiko Itoh; Matthew A Deardorff; Dinah Clark; Maninder Kaur; Stephany Tandy; Tatsuro Kondoh; Eric Rappaport; Nancy B Spinner; Hugo Vega; Laird G Jackson; Katsuhiko Shirahige; Ian D Krantz
Journal:  PLoS Biol       Date:  2009-05-26       Impact factor: 8.029

9.  Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome.

Authors:  Cristina Gervasini; Chiara Picinelli; Jacopo Azzollini; Daniela Rusconi; Maura Masciadri; Anna Cereda; Cinzia Marzocchi; Giuseppe Zampino; Angelo Selicorni; Romano Tenconi; Silvia Russo; Lidia Larizza; Palma Finelli
Journal:  BMC Med Genet       Date:  2013-04-03       Impact factor: 2.103

10.  Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome.

Authors:  Alina Kuzniacka; Jolanta Wierzba; Magdalena Ratajska; Beata S Lipska; Magdalena Koczkowska; Monika Malinowska; Janusz Limon
Journal:  J Appl Genet       Date:  2012-12-20       Impact factor: 3.240
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