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Literature DB >> 8554058

Chromosomal duplications in bacteria, fruit flies, and humans.

J R Lupski¹, J R Roth, G M Weinstock.

Abstract

Entities: Species

Mesh：

Year: 1996 PMID： 8554058 PMCID： PMC1914933

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

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61 in total

1. The fusion of two peptide chains in hemoglobin Lepore and its interpretation as a genetic deletion.

Authors: C BAGLIONI
Journal: Proc Natl Acad Sci U S A Date: 1962-11-15 Impact factor: 11.205

2. Two families of low-copy-number repeats are interspersed on Xp22.3: implications for the high frequency of deletions in this region.

Authors: A Ballabio; B Bardoni; S Guioli; E Basler; G Camerino
Journal: Genomics Date: 1990-10 Impact factor: 5.736

3. Molecular genetics of inherited variation in human color vision.

Authors: J Nathans; T P Piantanida; R L Eddy; T B Shows; D S Hogness
Journal: Science Date: 1986-04-11 Impact factor: 47.728

4. Alternatively sized duplication in Charcot-Marie-Tooth disease type 1A.

Authors: L J Valentijn; F Baas; I Zorn; G W Hensels; M de Visser; P A Bolhuis
Journal: Hum Mol Genet Date: 1993-12 Impact factor: 6.150

5. Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A.

Authors: B B Roa; C A Garcia; L Pentao; J M Killian; B J Trask; U Suter; G J Snipes; R Ortiz-Lopez; E M Shooter; P I Patel; J R Lupski
Journal: Nat Genet Date: 1993-10 Impact factor: 38.330

6. A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension.

Authors: R P Lifton; R G Dluhy; M Powers; G M Rich; S Cook; S Ulick; J M Lalouel
Journal: Nature Date: 1992-01-16 Impact factor: 49.962

7. Stable inheritance of the CMT1A DNA duplication in two patients with CMT1 and NF1.

Authors: J R Lupski; L Pentao; L L Williams; P I Patel
Journal: Am J Med Genet Date: 1993-01-01

8. De novo and inherited deletions of the 5q13 region in spinal muscular atrophies.

Authors: J Melki; S Lefebvre; L Burglen; P Burlet; O Clermont; P Millasseau; S Reboullet; B Bénichou; M Zeviani; D Le Paslier
Journal: Science Date: 1994-06-03 Impact factor: 47.728

9. Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells.

Authors: J P Rossiter; M Young; M L Kimberland; P Hutter; R P Ketterling; J Gitschier; J Horst; M A Morris; D J Schaid; P de Moerloose
Journal: Hum Mol Genet Date: 1994-07 Impact factor: 6.150

10. Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis.

Authors: F Palau; A Löfgren; P De Jonghe; S Bort; E Nelis; T Sevilla; J J Martin; J Vilchez; F Prieto; C Van Broeckhoven
Journal: Hum Mol Genet Date: 1993-12 Impact factor: 6.150

19 in total

1. Chromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome.

Authors: L A Christ; C A Crowe; M A Micale; J M Conroy; S Schwartz
Journal: Am J Hum Genet Date: 1999-11 Impact factor: 11.025

Review 2. Origin of sex revisited.

Authors: Mauro Santos; Elias Zintzaras; Eörs Szathmáry
Journal: Orig Life Evol Biosph Date: 2003-10 Impact factor: 1.950

3. The coalescent with selection on copy number variants.

Authors: Kosuke M Teshima; Hideki Innan
Journal: Genetics Date: 2011-12-14 Impact factor: 4.562

4. Essentiality of ribosomal and transcription antitermination proteins analyzed by systematic gene replacement in Escherichia coli.

Authors: Mikhail Bubunenko; Teresa Baker; Donald L Court
Journal: J Bacteriol Date: 2007-02-02 Impact factor: 3.490