Literature DB >> 8230156

Isolation of a new marker and conserved sequences close to the DiGeorge syndrome marker HP500 (D22S134).

R Wadey1, S Daw, A Wickremasinghe, C Roberts, D Wilson, J Goodship, J Burn, S Halford, P J Scambler.   

Abstract

End fragment cloning from a YAC at the D22S134 locus allowed the isolation of a new probe HD7k. This marker detects hemizygosity in two patients previously shown to be dizygous for D22S134. This positions the distal deletion breakpoint in these patients to the sequences within the YAC, and confirms that HD7k is proximal to D22S134. In a search for coding sequences within the region commonly deleted in DGS we have identified a conserved sequence at D22S134. Although no cDNAs have yet been isolated, genomic sequencing shows a short open reading frame with weak similarity to collagen proteins.

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Year:  1993        PMID： 8230156      PMCID： PMC1016561          DOI： 10.1136/jmg.30.10.818

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  29 in total

1.  Molecular cytogenetics: toward dissection of the contiguous gene syndromes.

Authors:  B S Emanuel
Journal:  Am J Hum Genet       Date:  1988-11       Impact factor: 11.025

2.  Congenital cardiovascular disease and anomalies of the third and fourth pharyngeal pouch.

Authors:  R M Freedom; F S Rosen; A S Nadas
Journal:  Circulation       Date:  1972-07       Impact factor: 29.690

3.  A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands.

Authors:  X Estivill; M Farrall; P J Scambler; G M Bell; K M Hawley; N J Lench; G P Bates; H C Kruyer; P A Frederick; P Stanier
Journal:  Nature       Date:  1987 Apr 30-May 6       Impact factor: 49.962

4.  "A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum.

Authors:  A P Feinberg; B Vogelstein
Journal:  Anal Biochem       Date:  1984-02       Impact factor: 3.365

5.  Dependence of thymus development on derivatives of the neural crest.

Authors:  D E Bockman; M L Kirby
Journal:  Science       Date:  1984-02-03       Impact factor: 47.728

Review 6.  The DiGeorge syndrome. I. Clinical evaluation and course of partial and complete forms of the syndrome.

Authors:  W Müller; H H Peter; M Wilken; H Jüppner; H C Kallfelz; H P Krohn; K Miller; C H Rieger
Journal:  Eur J Pediatr       Date:  1988-06       Impact factor: 3.183

7.  Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11.

Authors:  S Halford; E Lindsay; M Nayudu; A H Carey; A Baldini; P J Scambler
Journal:  Hum Mol Genet       Date:  1993-02       Impact factor: 6.150

8.  Effects of the size of lesions of the cardiac neural crest at various embryonic ages on incidence and type of cardiac defects.

Authors:  W T Besson; M L Kirby; L H Van Mierop; J R Teabeaut
Journal:  Circulation       Date:  1986-02       Impact factor: 29.690

9.  Interrupted right aortic arch in DiGeorge syndrome.

Authors:  P Moerman; M Dumoulin; J Lauweryns; L G Van der Hauwaert
Journal:  Br Heart J       Date:  1987-09

10.  Cardiovascular anomalies in DiGeorge syndrome and importance of neural crest as a possible pathogenetic factor.

Authors:  L H Van Mierop; L M Kutsche
Journal:  Am J Cardiol       Date:  1986-07-01       Impact factor: 2.778
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  7 in total

1.  The incidence of a deletion in chromosome 22Q11 in sporadic and familial conotruncal heart disease.

Authors:  K Devriendt; B Eyskens; A Swillen; M Dumoulin; M Gewillig; J P Fryns
Journal:  Eur J Pediatr       Date:  1996-08       Impact factor: 3.183

2.  Chromosome 22q11 deletion presenting as the Potter sequence.

Authors:  K Devriendt; P Moerman; D Van Schoubroeck; K Vandenberghe; J P Fryns
Journal:  J Med Genet       Date:  1997-05       Impact factor: 6.318

3.  Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS.

Authors:  A Swillen; K Devriendt; E Legius; B Eyskens; M Dumoulin; M Gewillig; J P Fryns
Journal:  J Med Genet       Date:  1997-06       Impact factor: 6.318

4.  CATCH 22.

Authors:  J G Hall
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

5.  Velocardiofacial syndrome and DiGeorge sequence.

Authors:  R J Shprintzen
Journal:  J Med Genet       Date:  1994-05       Impact factor: 6.318

6.  22q11 deletions in isolated and syndromic patients with tetralogy of Fallot.

Authors:  F Amati; A Mari; M C Digilio; R Mingarelli; B Marino; A Giannotti; G Novelli; B Dallapiccola
Journal:  Hum Genet       Date:  1995-05       Impact factor: 4.132

7.  Familial non-syndromic conotruncal defects are not associated with a 22q11 microdeletion.

Authors:  S Debrus; G Berger; A de Meeus; U Sauer; S Guillaumont; M Voisin; A Bozio; S Demczuk; A Aurias; P Bouvagnet
Journal:  Hum Genet       Date:  1996-02       Impact factor: 4.132
  7 in total

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