Literature DB >> 4430496

Fusion of the short arms of one X chromosome in a patient with gonadal dysgenesis.

U Ruthner, E Golob.   

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Year:  1974        PMID: 4430496     DOI: 10.1007/BF00283775

Source DB:  PubMed          Journal:  Humangenetik        ISSN: 0018-7348


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  1 in total

1.  An abnormal large human chromosome identified as an end-to-end fusion of two X's by combined results of the new banding techniques and microdensitometry.

Authors:  C Distèche; A Hagemeijer; J Frederic; D Progneaux
Journal:  Clin Genet       Date:  1972       Impact factor: 4.438

  1 in total
  11 in total

1.  A girl with mosaicism for a dicentric X chromosome (45,X/46,X,dic(X) (Xqter to p22::p22 to qter)).

Authors:  J F Mattei; H Taramasco; M G Mattei; C Lucas; L Aubert; F Giraud
Journal:  Hum Genet       Date:  1977-08-31       Impact factor: 4.132

2.  Fusion of two apparently intact human X chromosomes.

Authors:  A K Sinha; S Pathak; J J Nora
Journal:  Hum Genet       Date:  1976-06-29       Impact factor: 4.132

3.  A girl with an end-to-end fusion of two X'S.

Authors:  C Stoll; C Lausecker; A Pennerath
Journal:  Eur J Pediatr       Date:  1979-05-18       Impact factor: 3.183

4.  Structural anomalies of the X chromosome and inactivation center.

Authors:  M G Mattei; J F Mattei; I Vidal; F Giraud
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

5.  Cytogenetic and clinical studies in gonadal dysgenesis with 46,X,Xt(qter leads to p221::p223 leads to qter) karyotype: review and phenotype/karyotype correlations.

Authors:  M Ferraro; A De Capoa; C Mostacci; F Pelliccia; P Zulli; M A Baldini; Q Di Nisio
Journal:  J Med Genet       Date:  1980-12       Impact factor: 6.318

6.  Further dicentric X isochromosomes and deletions, and a new structure i(X)(pter to q2102 to pter).

Authors:  A Daniel; T Saville; D B Southall
Journal:  J Med Genet       Date:  1979-08       Impact factor: 6.318

7.  Cytological findings of 10 cases with i(Xq) and one with dic(X)(qter leads to cen leads to p22::p11 leads to qter).

Authors:  H Fujita; Y Tanigawa; Y Yoshida; Y Okada
Journal:  Hum Genet       Date:  1977-11-10       Impact factor: 4.132

8.  Differences in human X isochromosomes.

Authors:  J H Priest; R D Blackston; K S Au; S L Ray
Journal:  J Med Genet       Date:  1975-12       Impact factor: 6.318

9.  Partial trisomy 21. Further evidence that trisomy of band 21q22 is essential for Down's phenotype.

Authors:  A Hagemeijer; E M Smit
Journal:  Hum Genet       Date:  1977-08-31       Impact factor: 4.132

10.  Telomeric association of chromosomes in B-cell lymphoid leukemia.

Authors:  P H Fitzgerald; C M Morris
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

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