Literature DB >> 5135849

The syndrome associated with the partial D-monosomy. Case report and review.

D J Orbeli, I W Lurie, J L Goroshenko.   

Abstract

Mesh:

Year:  1971        PMID: 5135849     DOI: 10.1007/BF00273945

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


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  28 in total

1.  ABNORMALITIES WITH RING CHROMOSOME.

Authors:  L E REISMAN; A DARNELL; J W MURPHY
Journal:  Lancet       Date:  1965-08-28       Impact factor: 79.321

Review 2.  [Karyotype and phenotype of autosome aberrations in man].

Authors:  R A Pfeiffer
Journal:  Veroff Morphol Pathol       Date:  1968

3.  Multiple congenital anomalies associated with a ring-D chromosome.

Authors:  R C Juberg; M S Adams; W J Venema; M G Hart
Journal:  J Med Genet       Date:  1969-09       Impact factor: 6.318

4.  Retinoblastoma and deletion D (14) syndrome.

Authors:  M G Wilson; J Melnyk; J W Towner
Journal:  J Med Genet       Date:  1969-09       Impact factor: 6.318

5.  Comparative behavior of ring chromosomes.

Authors:  M L Kistenmacher; H H Punnett
Journal:  Am J Hum Genet       Date:  1970-05       Impact factor: 11.025

6.  Ring chromosome D (13).

Authors:  G S Coffin; M G Wilson
Journal:  Am J Dis Child       Date:  1970-04

7.  A malformation syndrome with ring D chromosome.

Authors:  J G Masterson; E M Law; M N Rashad; S F Cahalane; T M Kavanagh
Journal:  J Ir Med Assoc       Date:  1968-11

8.  [Ocular abnormalities of phenotype DR (ring D chromosome)].

Authors:  H Saraux; M O Réthoré; M Aussannaire; P Dhermy; C Joly; J Le Loch; E Praud; J Lejeune
Journal:  Ann Ocul (Paris)       Date:  1970-08

9.  Absent thumbs with a ring D2 chromosome: a new deletion syndrome.

Authors:  R S Sparkes; R E Carrel; S W Wright
Journal:  Am J Hum Genet       Date:  1967-09       Impact factor: 11.025

10.  A ring D chromosome and anomalous inheritance of haptoglobin type.

Authors:  P S Gerald; S Warner; J D Singer; P A Corcoran; I Umansky
Journal:  J Pediatr       Date:  1967-02       Impact factor: 4.406

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  12 in total

1.  Deletion of long arms of chromosome 13.

Authors:  M Kucerovă; Z Polívková; M Pokorná
Journal:  Humangenetik       Date:  1975

2.  D13 ring chromosome syndrome.

Authors:  A Mccandless; S Walker
Journal:  Arch Dis Child       Date:  1976-06       Impact factor: 3.791

3.  Deletion long arm 13.

Authors:  J Nielsen; A Homma; F Christiansen; K Rasmussen; P Saldaña-Garcia
Journal:  Hum Genet       Date:  1977-07-26       Impact factor: 4.132

4.  Retinoblastoma and D-chromosome deletions.

Authors:  M G Wilson; J W Towner; A Fujimoto
Journal:  Am J Hum Genet       Date:  1973-01       Impact factor: 11.025

5.  Genotype and phenotype in human chromosome aberrations and in the minute mutants of Drosophila melanogaster.

Authors:  F Vogel
Journal:  Humangenetik       Date:  1973

6.  New cytogenetic variant of Orbeli's syndrome (46,XY-45,XY,-D-46,XY,Dq+).

Authors:  G I Lazjuk; I W Lurie; G I Kravtzova; S S Usoev
Journal:  Humangenetik       Date:  1973-12-10

7.  Interstitial deletion of chromosome 13 and associated congenital anomalies.

Authors:  W W Nichols; R C Miller; E Hoffman; D Albert; R R Weichselbaum; J Nove; J B Little
Journal:  Hum Genet       Date:  1979-11       Impact factor: 4.132

8.  Partial deletion of the long arm of chromosome no. 13.

Authors:  A Cuschieri; P V Agius; J M Scheres
Journal:  Hum Genet       Date:  1977-05-10       Impact factor: 4.132

9.  Retinoblastoma, gross internal malformations, and deletion 13q14 leads to q31.

Authors:  E Yunis; R Zuñiga; E Ramírez
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

10.  Ocular colobomata, cardiac defect, and other anomalies: a study of seven cases including two sibs.

Authors:  C K Ho; R L Kaufman; S M Podos
Journal:  J Med Genet       Date:  1975-09       Impact factor: 6.318

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