Literature DB >> 15338639

Genomic variation in multigenic traits: Hirschsprung disease.

A S McCallion1, E S Emison, C S Kashuk, R T Bush, M Kenton, M M Carrasquillo, K W Jones, G C Kennedy, M E Portnoy, E D Green, A Chakravarti.   

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Year:  2003        PMID： 15338639     DOI： 10.1101/sqb.2003.68.373

Source DB:  PubMed          Journal:  Cold Spring Harb Symp Quant Biol        ISSN： 0091-7451


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  11 in total

1.  Progress in human genetics.

Authors:  Sara M Mariani
Journal:  MedGenMed       Date:  2004-12-07

2.  Phactr4 regulates directional migration of enteric neural crest through PP1, integrin signaling, and cofilin activity.

Authors:  Ying Zhang; Tae-Hee Kim; Lee Niswander
Journal:  Genes Dev       Date:  2012-01-01       Impact factor: 11.361

3.  Phenotype-genotype correlation in Hirschsprung disease is illuminated by comparative analysis of the RET protein sequence.

Authors:  Carl S Kashuk; Eric A Stone; Elizabeth A Grice; Matthew E Portnoy; Eric D Green; Arend Sidow; Aravinda Chakravarti; Andrew S McCallion
Journal:  Proc Natl Acad Sci U S A       Date:  2005-06-13       Impact factor: 11.205

4.  Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease.

Authors:  Loïc de Pontual; Norann A Zaghloul; Sophie Thomas; Erica E Davis; David M McGaughey; Hélène Dollfus; Clarisse Baumann; Seneca L Bessling; Candice Babarit; Anna Pelet; Cecilia Gascue; Philip Beales; Arnold Munnich; Stanislas Lyonnet; Heather Etchevers; Tania Attie-Bitach; Jose L Badano; Andrew S McCallion; Nicholas Katsanis; Jeanne Amiel
Journal:  Proc Natl Acad Sci U S A       Date:  2009-07-31       Impact factor: 11.205

5.  Distilling pathophysiology from complex disease genetics.

Authors:  Aravinda Chakravarti; Andrew G Clark; Vamsi K Mootha
Journal:  Cell       Date:  2013-09-26       Impact factor: 41.582

Review 6.  The contribution of associated congenital anomalies in understanding Hirschsprung's disease.

Authors:  S W Moore
Journal:  Pediatr Surg Int       Date:  2006-03-04       Impact factor: 1.827

Review 7.  Hirschsprung's disease: clinical dysmorphology, genes, micro-RNAs, and future perspectives.

Authors:  Consolato Maria Sergi; Oana Caluseriu; Hunter McColl; David D Eisenstat
Journal:  Pediatr Res       Date:  2016-09-28       Impact factor: 3.756

8.  Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association.

Authors:  Stacey Arnold; Anna Pelet; Jeanne Amiel; Salud Borrego; Robert Hofstra; Paul Tam; Isabella Ceccherini; Stanislas Lyonnet; Stephanie Sherman; Aravinda Chakravarti
Journal:  Hum Mutat       Date:  2009-05       Impact factor: 4.878

9.  Aebp2 as an epigenetic regulator for neural crest cells.

Authors:  Hana Kim; Keunsoo Kang; Muhammad B Ekram; Tae-Young Roh; Joomyeong Kim
Journal:  PLoS One       Date:  2011-09-19       Impact factor: 3.240

10.  Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease.

Authors:  Anne-Sophie Jannot; Anna Pelet; Alexandra Henrion-Caude; Asma Chaoui; Marine Masse-Morel; Stacey Arnold; Damien Sanlaville; Isabella Ceccherini; Salud Borrego; Robert M W Hofstra; Arnold Munnich; Nadège Bondurand; Aravinda Chakravarti; Françoise Clerget-Darpoux; Jeanne Amiel; Stanislas Lyonnet
Journal:  PLoS One       Date:  2013-05-06       Impact factor: 3.240
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