Literature DB >> 12698359

Interphase FISH, the structure of reciprocal translocation chromosomes and physical mapping studies rule out the duplication of the NF1 gene at 17q11.2. A reply.

Hildegard Kehrer-Sawatzki, Ludwine Messiaen.   

Abstract

Mesh：

Year:  2003        PMID： 12698359     DOI： 10.1007/s00439-003-0955-z

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


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  7 in total

1.  The HUGO Gene Nomenclature Committee (HGNC).

Authors:  S Povey; R Lovering; E Bruford; M Wright; M Lush; H Wain
Journal:  Hum Genet       Date:  2001-10-24       Impact factor: 4.132

2.  Molecular characterisation of t(17;22)(q11.2;q11.2) is not consistent with NF1 gene duplication.

Authors:  Hildegard Kehrer-Sawatzki; Günter Assum; Horst Hameister
Journal:  Hum Genet       Date:  2002-07-24       Impact factor: 4.132

3.  AT-rich palindromes mediate the constitutional t(11;22) translocation.

Authors:  L Edelmann; E Spiteri; K Koren; V Pulijaal; M G Bialer; A Shanske; R Goldberg; B E Morrow
Journal:  Am J Hum Genet       Date:  2000-11-28       Impact factor: 11.025

4.  The second case of a t(17;22) in a family with neurofibromatosis type 1: sequence analysis of the breakpoint regions.

Authors:  H Kehrer-Sawatzki; J Häussler; W Krone; H Bode; D E Jenne; K U Mehnert; U Tümmers; G Assum
Journal:  Hum Genet       Date:  1997-02       Impact factor: 4.132

5.  Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

Authors:  L M Messiaen; T Callens; G Mortier; D Beysen; I Vandenbroucke; N Van Roy; F Speleman; A D Paepe
Journal:  Hum Mutat       Date:  2000       Impact factor: 4.878

6.  Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse.

Authors:  Dieter E Jenne; Sigrid Tinschert; Michael O Dorschner; Horst Hameister; Karen Stephens; Hildegard Kehrer-Sawatzki
Journal:  Genes Chromosomes Cancer       Date:  2003-06       Impact factor: 5.006

7.  Tandem duplication of the NF1 gene detected by high-resolution FISH in the 17q11.2 region.

Authors:  Cristina Gervasini; Angela Bentivegna; Marco Venturin; Lucia Corrado; Lidia Larizza; Paola Riva
Journal:  Hum Genet       Date:  2002-03-20       Impact factor: 4.132
  7 in total

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