Literature DB >> 1127534

A G-like trisomy with a major 15 proximal supernumerary component derived from a D/E balanced maternal interchange.

D L Bannister, E Engel.   

Abstract

Mesh：

Year:  1975        PMID： 1127534     DOI： 10.1016/s0022-3476(75)80228-9

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


× No keyword cloud information.
  9 in total

1.  Assignment of the structural gene for human beta glucuronidase to chromosome 7 and tetrameric association of subunits in the enzyme molecule.

Authors:  C J Chern; C M Croce
Journal:  Am J Hum Genet       Date:  1976-07       Impact factor: 11.025

2.  Partial trisomy 15q1.

Authors:  R A Pfeiffer; E Kessel
Journal:  Hum Genet       Date:  1976-07-07       Impact factor: 4.132

3.  A new case of partial trisomy 15q-.

Authors:  A Geneix; J Y Jaffray; P Malet; E Foulon; P Jalbert; P Crost
Journal:  Hum Genet       Date:  1979-10-02       Impact factor: 4.132

4.  De novo partial trisomy 15q (proximal type).

Authors:  T J Herweijer; J W Oorthuys; N J Leschot
Journal:  J Med Genet       Date:  1988-04       Impact factor: 6.318

5.  Distal 15q trisomy: phenotypic comparison of nine cases in an extended family.

Authors:  P Schnatterly; K L Bono; M Robinow; H E Wyandt; N Kardon; T E Kelly
Journal:  Am J Hum Genet       Date:  1984-03       Impact factor: 11.025

Review 6.  Chromosome 15 anomalies and the Prader-Willi syndrome: cytogenetic analysis.

Authors:  M G Mattei; N Souiah; J F Mattei
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

7.  Genetics of type II glycogenosis: assignment of the human gene for acid alpha-glucosidase to chromosome 17.

Authors:  G G D'Ancona; J Wurm; C M Croce
Journal:  Proc Natl Acad Sci U S A       Date:  1979-09       Impact factor: 11.205

8.  Inv dup (15) with mental retardation but few dysmorphic features.

Authors:  D H Gilmore; E Boyd; J P McClure; P Batstone; J M Connor
Journal:  J Med Genet       Date:  1984-06       Impact factor: 6.318

9.  The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture.

Authors:  A Schinzel; W Schmid; M Fraccaro; L Tiepolo; O Zuffardi; J M Opitz; J Lindsten; P Zetterqvist; H Enell; C Baccichetti; R Tenconi; R A Pagon
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.