Literature DB >> 1871001

A to G polymorphism in ELN gene.

G Tromp1, A Christiano, N Goldstein, Z Indik, C Boyd, J Rosenbloom, S Deak, D Prockop, H Kuivaniemi.   

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Year:  1991        PMID: 1871001      PMCID: PMC328609          DOI: 10.1093/nar/19.15.4314-a

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN: 0305-1048            Impact factor:   16.971


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  4 in total

1.  Alternative splicing of human elastin mRNA indicated by sequence analysis of cloned genomic and complementary DNA.

Authors:  Z Indik; H Yeh; N Ornstein-Goldstein; P Sheppard; N Anderson; J C Rosenbloom; L Peltonen; J Rosenbloom
Journal:  Proc Natl Acad Sci U S A       Date:  1987-08       Impact factor: 11.205

2.  Polymorphism of DNA sequence in the human pro alpha 2(I) collagen gene.

Authors:  A F Grobler-Rabie; D K Brebner; S Vandenplas; G Wallis; R Dalgleish; R E Kaufman; A J Bester; C G Mathew; C D Boyd
Journal:  J Med Genet       Date:  1985-06       Impact factor: 6.318

3.  Human elastin gene: new evidence for localization to the long arm of chromosome 7.

Authors:  M J Fazio; M G Mattei; E Passage; M L Chu; D Black; E Solomon; J M Davidson; J Uitto
Journal:  Am J Hum Genet       Date:  1991-04       Impact factor: 11.025

4.  Detection of a high frequency RsaI polymorphism in the human pro alpha 2(I) collagen gene which is linked to an autosomal dominant form of osteogenesis imperfecta.

Authors:  A F Grobler-Rabie; G Wallis; D K Brebner; P Beighton; A J Bester; C G Mathew
Journal:  EMBO J       Date:  1985-07       Impact factor: 11.598

  4 in total
  13 in total

1.  The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion.

Authors:  R Peoples; L Perez-Jurado; Y K Wang; P Kaplan; U Francke
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

2.  7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover.

Authors:  Z Urbán; C Helms; G Fekete; K Csiszár; D Bonnet; A Munnich; H Donis-Keller; C D Boyd
Journal:  Am J Hum Genet       Date:  1996-10       Impact factor: 11.025

3.  Elastin mutation screening in a group of patients affected by vascular abnormalities.

Authors:  L Rodriguez-Revenga; C Badenas; A Carrió; M Milà
Journal:  Pediatr Cardiol       Date:  2005 Nov-Dec       Impact factor: 1.655

4.  Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes.

Authors:  A Ganguly; M J Rock; D J Prockop
Journal:  Proc Natl Acad Sci U S A       Date:  1993-11-01       Impact factor: 11.205

5.  Genomewide-linkage and haplotype-association studies map intracranial aneurysm to chromosome 7q11.

Authors:  H Onda; H Kasuya; T Yoneyama; K Takakura; T Hori; J Takeda; T Nakajima; I Inoue
Journal:  Am J Hum Genet       Date:  2001-08-28       Impact factor: 11.025

6.  Genetic analysis of polymorphisms in biologically relevant candidate genes in patients with abdominal aortic aneurysms.

Authors:  Toru Ogata; Hidenori Shibamura; Gerard Tromp; Moumita Sinha; Katrina A B Goddard; Natzi Sakalihasan; Raymond Limet; Gerald L MacKean; Claudette Arthur; Taijiro Sueda; Susan Land; Helena Kuivaniemi
Journal:  J Vasc Surg       Date:  2005-06       Impact factor: 4.268

7.  Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus.

Authors:  D Kotzot; F Bernasconi; L Brecevic; W P Robinson; P Kiss; G Kosztolanyi; I W Lurie; A Superti-Furga; A Schinzel
Journal:  Eur J Pediatr       Date:  1995-06       Impact factor: 3.183

8.  Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome.

Authors:  A Mari; F Amati; R Mingarelli; A Giannotti; G Sebastio; V Colloridi; G Novelli; B Dallapiccola
Journal:  Hum Genet       Date:  1995-10       Impact factor: 4.132

9.  A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7.

Authors:  A K Ewart; C A Morris; G J Ensing; J Loker; C Moore; M Leppert; M Keating
Journal:  Proc Natl Acad Sci U S A       Date:  1993-04-15       Impact factor: 11.205

10.  Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus.

Authors:  L D Spotila; L Sereda; D J Prockop
Journal:  Am J Hum Genet       Date:  1992-12       Impact factor: 11.025

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