Literature DB >> 6977300

[Partial monosomy 20q: a new syndrome. Regional assignment of the adenosine deaminase (ADA) locus on 20q132 (author's transl)].

J Fraisse, M F Bertheas, F Frère, B Lauras, M O Rolland, C P Brizard.   

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Year:  1981        PMID： 6977300

Source DB:  PubMed          Journal:  Ann Genet        ISSN： 0003-3995


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  7 in total

1.  Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy.

Authors:  J Kohlhase; L Schubert; M Liebers; A Rauch; K Becker; S N Mohammed; R Newbury-Ecob; W Reardon
Journal:  J Med Genet       Date:  2003-07       Impact factor: 6.318

2.  Unusual chromosome 20 anomaly arising "de novo" to give dic(20)qs.

Authors:  D Pimentel; P Alonso; J A Abrisqueta
Journal:  Hum Genet       Date:  1989-12       Impact factor: 4.132

3.  Partial trisomy 20p resulting from a recombination of a familial pericentric inversion.

Authors:  N Bown; I Cross; E V Davison; J Burn
Journal:  Hum Genet       Date:  1986-12       Impact factor: 4.132

4.  Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability.

Authors:  Elga F Belligni; Elisa Biamino; Cristina Molinatto; Jole Messa; Mauro Pierluigi; Francesca Faravelli; Orsetta Zuffardi; Giovanni B Ferrero; Margherita Cirillo Silengo
Journal:  Ital J Pediatr       Date:  2009-04-27       Impact factor: 2.638

5.  New assignment of the adenosine deaminase gene locus to chromosome 20q13 X 11 by study of a patient with interstitial deletion 20q.

Authors:  M B Petersen; L Tranebjaerg; N Tommerup; P Nygaard; H Edwards
Journal:  J Med Genet       Date:  1987-02       Impact factor: 6.318

6.  Familial ring (20) chromosomal mosaicism.

Authors:  E Back; I Voiculescu; M Brünger; G Wolff
Journal:  Hum Genet       Date:  1989-09       Impact factor: 4.132

Review 7.  Chromosome 20 long arm deletion in an elderly malformed man.

Authors:  F Shabtai; E Ben-Sasson; S Arieli; J Grinblat
Journal:  J Med Genet       Date:  1993-02       Impact factor: 6.318
  7 in total

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