Literature DB >> 12596790

2002 Curt Stern Award Address. Genomic disorders recombination-based disease resulting from genomic architecture.

James R Lupski1.   

Abstract

Mesh：

Year:  2003        PMID： 12596790      PMCID： PMC379220          DOI： 10.1086/346217

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


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  30 in total

Review 1.  Molecular mechanisms for genomic disorders.

Authors:  Ken Inoue; James R Lupski
Journal:  Annu Rev Genomics Hum Genet       Date:  2002-04-15       Impact factor: 8.929

Review 2.  Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease.

Authors:  P I Patel; J R Lupski
Journal:  Trends Genet       Date:  1994-04       Impact factor: 11.639

3.  Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4.

Authors:  D Pinkel; J Landegent; C Collins; J Fuscoe; R Segraves; J Lucas; J Gray
Journal:  Proc Natl Acad Sci U S A       Date:  1988-12       Impact factor: 11.205

4.  DNA duplication associated with Charcot-Marie-Tooth disease type 1A.

Authors:  J R Lupski; R M de Oca-Luna; S Slaugenhaupt; L Pentao; V Guzzetta; B J Trask; O Saucedo-Cardenas; D F Barker; J M Killian; C A Garcia; A Chakravarti; P I Patel
Journal:  Cell       Date:  1991-07-26       Impact factor: 41.582

5.  Separation of yeast chromosome-sized DNAs by pulsed field gradient gel electrophoresis.

Authors:  D C Schwartz; C R Cantor
Journal:  Cell       Date:  1984-05       Impact factor: 41.582

6.  A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.

Authors:  L T Reiter; T Murakami; T Koeuth; L Pentao; D M Muzny; R A Gibbs; J R Lupski
Journal:  Nat Genet       Date:  1996-03       Impact factor: 38.330

7.  Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit.

Authors:  L Pentao; C A Wise; A C Chinault; P I Patel; J R Lupski
Journal:  Nat Genet       Date:  1992-12       Impact factor: 38.330

8.  Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization.

Authors:  D Pinkel; T Straume; J W Gray
Journal:  Proc Natl Acad Sci U S A       Date:  1986-05       Impact factor: 11.205

9.  Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).

Authors:  F Greenberg; V Guzzetta; R Montes de Oca-Luna; R E Magenis; A C Smith; S F Richter; I Kondo; W B Dobyns; P I Patel; J R Lupski
Journal:  Am J Hum Genet       Date:  1991-12       Impact factor: 11.025

10.  Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17.

Authors:  P F Chance; N Abbas; M W Lensch; L Pentao; B B Roa; P I Patel; J R Lupski
Journal:  Hum Mol Genet       Date:  1994-02       Impact factor: 6.150
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  22 in total

1.  2002 Curt Stern Award address. Introductory speech for James R. Lupski.

Authors:  Robert D Nicholls
Journal:  Am J Hum Genet       Date:  2003-02       Impact factor: 11.025

2.  Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.

Authors:  Weimin Bi; Sung-Sup Park; Christine J Shaw; Marjorie A Withers; Pragna I Patel; James R Lupski
Journal:  Am J Hum Genet       Date:  2003-11-24       Impact factor: 11.025

3.  Genome architecture catalyzes nonrecurrent chromosomal rearrangements.

Authors:  Paweł Stankiewicz; Christine J Shaw; Jason D Dapper; Keiko Wakui; Lisa G Shaffer; Marjorie Withers; Leah Elizondo; Sung-Sup Park; James R Lupski
Journal:  Am J Hum Genet       Date:  2003-03-20       Impact factor: 11.025

4.  Fine mapping a gene for pediatric gastroesophageal reflux on human chromosome 13q14.

Authors:  Fen Ze Hu; Joseph Donfack; Azad Ahmed; Richard Dopico; Sandra Johnson; J Christopher Post; Garth D Ehrlich; Robert A Preston
Journal:  Hum Genet       Date:  2004-03-10       Impact factor: 4.132

5.  Serial segmental duplications during primate evolution result in complex human genome architecture.

Authors:  Pawełl Stankiewicz; Christine J Shaw; Marjorie Withers; Ken Inoue; James R Lupski
Journal:  Genome Res       Date:  2004-11       Impact factor: 9.043

6.  Tempos of gene locus deletions and duplications and their relationship to recombination rate during diploid and polyploid evolution in the Aegilops-Triticum alliance.

Authors:  Jan Dvorak; Eduard D Akhunov
Journal:  Genetics       Date:  2005-07-04       Impact factor: 4.562

7.  2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements.

Authors:  James R Lupski
Journal:  Am J Hum Genet       Date:  2019-03-07       Impact factor: 11.025

8.  High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene.

Authors:  H Kehrer-Sawatzki; L Kluwe; C Sandig; M Kohn; K Wimmer; U Krammer; A Peyrl; D E Jenne; I Hansmann; V-F Mautner
Journal:  Am J Hum Genet       Date:  2004-07-15       Impact factor: 11.025

9.  The breakpoint region of the most common isochromosome, i(17q), in human neoplasia is characterized by a complex genomic architecture with large, palindromic, low-copy repeats.

Authors:  Aikaterini Barbouti; Pawel Stankiewicz; Chad Nusbaum; Christina Cuomo; April Cook; Mattias Höglund; Bertil Johansson; Anne Hagemeijer; Sung-Sup Park; Felix Mitelman; James R Lupski; Thoas Fioretos
Journal:  Am J Hum Genet       Date:  2003-12-08       Impact factor: 11.025

10.  Disorders of the genome architecture: a review.

Authors:  Dhavendra Kumar
Journal:  Genomic Med       Date:  2009-03-11
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