Literature DB >> 15591270

NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome.

G Borck1, R Redon, D Sanlaville, M Rio, M Prieur, S Lyonnet, M Vekemans, N P Carter, A Munnich, L Colleaux, V Cormier-Daire.   

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Year:  2004        PMID： 15591270      PMCID： PMC1735640          DOI： 10.1136/jmg.2004.026666

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  18 in total

1.  Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.

Authors:  Diana Braunholz; Melanie Hullings; María Concepcion Gil-Rodríguez; Christopher T Fincher; Mark B Mallozzi; Elizabeth Loy; Melanie Albrecht; Maninder Kaur; Janusz Limon; Abhinav Rampuria; Dinah Clark; Antonie Kline; Andreas Dalski; Juliane Eckhold; Andreas Tzschach; Raoul Hennekam; Gabriele Gillessen-Kaesbach; Jolanta Wierzba; Ian D Krantz; Matthew A Deardorff; Frank J Kaiser
Journal:  Eur J Hum Genet       Date:  2011-09-21       Impact factor: 4.246

Review 2.  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

3.  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

4.  Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation.

Authors:  Katarzyna Borg; Paweł Stankiewicz; Ewa Bocian; Anna Kruczek; Ewa Obersztyn; James R Lupski; Tadeusz Mazurczak
Journal:  Hum Genet       Date:  2005-11-15       Impact factor: 4.132

5.  Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.

Authors:  Bo Yuan; Davut Pehlivan; Ender Karaca; Nisha Patel; Wu-Lin Charng; Tomasz Gambin; Claudia Gonzaga-Jauregui; V Reid Sutton; Gozde Yesil; Sevcan Tug Bozdogan; Tulay Tos; Asuman Koparir; Erkan Koparir; Christine R Beck; Shen Gu; Huseyin Aslan; Ozge Ozalp Yuregir; Khalid Al Rubeaan; Dhekra Alnaqeb; Muneera J Alshammari; Yavuz Bayram; Mehmed M Atik; Hatip Aydin; B Bilge Geckinli; Mehmet Seven; Hakan Ulucan; Elif Fenercioglu; Mustafa Ozen; Shalini Jhangiani; Donna M Muzny; Eric Boerwinkle; Beyhan Tuysuz; Fowzan S Alkuraya; Richard A Gibbs; James R Lupski
Journal:  J Clin Invest       Date:  2015-01-09       Impact factor: 14.808

6.  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

Review 7.  Chromosome rearrangements in cornelia de Lange syndrome (CdLS): report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements.

Authors:  Cheryl DeScipio; Maninder Kaur; Dinah Yaeger; Jeffrey W Innis; Nancy B Spinner; Laird G Jackson; Ian D Krantz
Journal:  Am J Med Genet A       Date:  2005-09-01       Impact factor: 2.802

Review 8.  Fruit flies and intellectual disability.

Authors:  François V Bolduc; Tim Tully
Journal:  Fly (Austin)       Date:  2009-01-12       Impact factor: 2.160

Review 9.  On the molecular etiology of Cornelia de Lange syndrome.

Authors:  Dale Dorsett; Ian D Krantz
Journal:  Ann N Y Acad Sci       Date:  2009-01       Impact factor: 5.691

10.  Prehistoric genomes reveal the genetic foundation and cost of horse domestication.

Authors:  Mikkel Schubert; Hákon Jónsson; Dan Chang; Clio Der Sarkissian; Luca Ermini; Aurélien Ginolhac; Anders Albrechtsen; Isabelle Dupanloup; Adrien Foucal; Bent Petersen; Matteo Fumagalli; Maanasa Raghavan; Andaine Seguin-Orlando; Thorfinn S Korneliussen; Amhed M V Velazquez; Jesper Stenderup; Cindi A Hoover; Carl-Johan Rubin; Ahmed H Alfarhan; Saleh A Alquraishi; Khaled A S Al-Rasheid; David E MacHugh; Ted Kalbfleisch; James N MacLeod; Edward M Rubin; Thomas Sicheritz-Ponten; Leif Andersson; Michael Hofreiter; Tomas Marques-Bonet; M Thomas P Gilbert; Rasmus Nielsen; Laurent Excoffier; Eske Willerslev; Beth Shapiro; Ludovic Orlando
Journal:  Proc Natl Acad Sci U S A       Date:  2014-12-15       Impact factor: 11.205
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