Literature DB >> 19657425

Basic research in paediatrics: Does it exist?

Manuel Buchwald1.   

Abstract

Year:  2004        PMID: 19657425      PMCID: PMC2721167          DOI: 10.1093/pch/9.6.375

Source DB:  PubMed          Journal:  Paediatr Child Health        ISSN: 1205-7088            Impact factor:   2.253


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  6 in total

1.  A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

Authors:  L R Osborne; M Li; B Pober; D Chitayat; J Bodurtha; A Mandel; T Costa; T Grebe; S Cox; L C Tsui; S W Scherer
Journal:  Nat Genet       Date:  2001-11       Impact factor: 38.330

2.  Mutations in SBDS are associated with Shwachman-Diamond syndrome.

Authors:  Graeme R B Boocock; Jodi A Morrison; Maja Popovic; Nicole Richards; Lynda Ellis; Peter R Durie; Johanna M Rommens
Journal:  Nat Genet       Date:  2002-12-23       Impact factor: 38.330

3.  Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia.

Authors:  Z Ma; S W Morris; V Valentine; M Li; J A Herbrick; X Cui; D Bouman; Y Li; P K Mehta; D Nizetic; Y Kaneko; G C Chan; L C Chan; J Squire; S W Scherer; J K Hitzler
Journal:  Nat Genet       Date:  2001-07       Impact factor: 38.330

4.  Identification of the cystic fibrosis gene: chromosome walking and jumping.

Authors:  J M Rommens; M C Iannuzzi; B Kerem; M L Drumm; G Melmer; M Dean; R Rozmahel; J L Cole; D Kennedy; N Hidaka
Journal:  Science       Date:  1989-09-08       Impact factor: 47.728

5.  Mutations in SUFU predispose to medulloblastoma.

Authors:  Michael D Taylor; Ling Liu; Corey Raffel; Chi-chung Hui; Todd G Mainprize; Xiaoyun Zhang; Ron Agatep; Sharon Chiappa; Luzhang Gao; Anja Lowrance; Aihau Hao; Alisa M Goldstein; Theodora Stavrou; Stephen W Scherer; Wieslaw T Dura; Brandon Wainwright; Jeremy A Squire; James T Rutka; David Hogg
Journal:  Nat Genet       Date:  2002-06-17       Impact factor: 38.330

6.  Mutations in NHLRC1 cause progressive myoclonus epilepsy.

Authors:  Elayne M Chan; Edwin J Young; Leonarda Ianzano; Iulia Munteanu; Xiaochu Zhao; Constantine C Christopoulos; Giuliano Avanzini; Maurizio Elia; Cameron A Ackerley; Nebojsa J Jovic; Saeed Bohlega; Eva Andermann; Guy A Rouleau; Antonio V Delgado-Escueta; Berge A Minassian; Stephen W Scherer
Journal:  Nat Genet       Date:  2003-09-07       Impact factor: 38.330

  6 in total

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