Literature DB >> 19068953

Addendum. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.

Abdul Noor, Christian Windpassinger, Megha Patel, Beata Stachowiak, Anna Mikhailov, Matloob Azam, Muhammad Irfan, Andrew D Paterson, Muhammad Lutufullah, Dan Doherty, John B Vincent, Muhammad Ayub.   

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Year:  2008        PMID： 19068953      PMCID： PMC2674770          DOI： 10.1016/j.ajhg.2008.10.005

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  2 in total

1.  CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.

Authors:  Nicholas T Gorden; Heleen H Arts; Melissa A Parisi; Karlien L M Coene; Stef J F Letteboer; Sylvia E C van Beersum; Dorus A Mans; Abigail Hikida; Melissa Eckert; Dana Knutzen; Abdulrahman F Alswaid; Hamit Ozyurek; Sel Dibooglu; Edgar A Otto; Yangfan Liu; Erica E Davis; Carolyn M Hutter; Theo K Bammler; Frederico M Farin; Michael Dorschner; Meral Topçu; Elaine H Zackai; Phillip Rosenthal; Kelly N Owens; Nicholas Katsanis; John B Vincent; Friedhelm Hildebrandt; Edwin W Rubel; David W Raible; Nine V A M Knoers; Phillip F Chance; Ronald Roepman; Cecilia B Moens; Ian A Glass; Dan Doherty
Journal:  Am J Hum Genet       Date:  2008-10-23       Impact factor: 11.025

2.  CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.

Authors:  Abdul Noor; Christian Windpassinger; Megha Patel; Beata Stachowiak; Anna Mikhailov; Matloob Azam; Muhammad Irfan; Zahid Kamal Siddiqui; Farooq Naeem; Andrew D Paterson; Muhammad Lutfullah; John B Vincent; Muhammad Ayub
Journal:  Am J Hum Genet       Date:  2008-04       Impact factor: 11.025
  2 in total
  1 in total

1.  B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.

Authors:  Katharina Hopp; Christina M Heyer; Cynthia J Hommerding; Susan A Henke; Jamie L Sundsbak; Shail Patel; Priyanka Patel; Mark B Consugar; Peter G Czarnecki; Troy J Gliem; Vicente E Torres; Sandro Rossetti; Peter C Harris
Journal:  Hum Mol Genet       Date:  2011-04-14       Impact factor: 6.150
  1 in total

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