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Literature DB >> 7333596

Duplication 15q22 to 15qter and its phenotypic expression.

M J Gregoire, J Boue, C Junien, C Pernot, S Gilgenkrantz, L Zergollern.

Abstract

Mesh：

Year: 1981 PMID： 7333596 DOI： 10.1007/bf00295485

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

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14 in total

1. Letter: Partial trisomy 15 as a result of an unbalanced 12/15 translocation in a patient with a cloverleaf skull anomaly.

Authors: C Pedersen
Journal: Clin Genet Date: 1976-03 Impact factor: 4.438

2. [Distal trisomy 15q].

Authors: C Turleau; J de Grouchy; F Chavin-Colin; M Roubin
Journal: Ann Genet Date: 1977-09

3. Assignment of the structural genes for the alpha subunit of hexosaminidase A, mannosephosphate isomerase, and pyruvate kinase to the region q22-qter of human chromosome 15.

Authors: C J Chern; R Kennett; E Engel; W J Mellman; C M Croce
Journal: Somatic Cell Genet Date: 1977-11

4. Inherited partial duplication of chromosome No. 15.

Authors: A Fujimoto; J W Towner; A J Ebbin; E J Kahlstrom; M G Wilson
Journal: J Med Genet Date: 1974-09 Impact factor: 6.318

5. [A new technic of analysis of the human karyotype].

Authors: B Dutrillaux; J Lejeune
Journal: C R Acad Hebd Seances Acad Sci D Date: 1971-05-17

6. Differential binding of alkylating fluorochromes in human chromosomes.

Authors: T Caspersson; L Zech; C Johansson
Journal: Exp Cell Res Date: 1970-06 Impact factor: 3.905

7. [Partial trisomy for the distal part of the long arm of chromosome 15 due to a balanced maternal X/15 tranlsocation].

Authors: B Zabel; W Baumann
Journal: Ann Genet Date: 1977-12

8. PK3: a new chromosome enzyme marker for gene dosage studies in chromosome 15 imbalance.

Authors: C Junien; H Rubinson-Skala; J C Dreyfus; N Ravise; J Boué; A Boué; J C Kaplan
Journal: Hum Genet Date: 1980 Impact factor: 4.132

9. [Trisomy 21 and superoxide dismutase-1 (IPO-A). Tentative localization of sub-band 21Q22.1].

Authors: P M Sinet; J Couturier; B Dutrillaux; M Poissonnier; O Raoul; M O Rethore; D Allard; J Lejeune; H Jerome
Journal: Exp Cell Res Date: 1976-01 Impact factor: 3.905

10. A case of 21q--syndrome with normal SOD-1 activity.

Authors: Y Yamamoto; N Ogasawara; A Gotoh; H Komiya; H Nakai; Y Kuroki
Journal: Hum Genet Date: 1979-05-10 Impact factor: 4.132

9 in total

1. Analysis of a familial three way translocation involving chromosomes 3q, 6q, and 15q by high resolution banding and fluorescent in situ hybridisation (FISH) shows two different unbalanced karyotypes in sibs.

Authors: D Wieczorek; H Engels; R Viersbach; B Henke; G Schwanitz; E Passarge
Journal: J Med Genet Date: 1998-07 Impact factor: 6.318

Duplication 15q22 to 15qter and its phenotypic expression.

1. Letter: Partial trisomy 15 as a result of an unbalanced 12/15 translocation in a patient with a cloverleaf skull anomaly.

2. [Distal trisomy 15q].

3. Assignment of the structural genes for the alpha subunit of hexosaminidase A, mannosephosphate isomerase, and pyruvate kinase to the region q22-qter of human chromosome 15.

4. Inherited partial duplication of chromosome No. 15.

5. [A new technic of analysis of the human karyotype].

6. Differential binding of alkylating fluorochromes in human chromosomes.

7. [Partial trisomy for the distal part of the long arm of chromosome 15 due to a balanced maternal X/15 tranlsocation].

8. PK3: a new chromosome enzyme marker for gene dosage studies in chromosome 15 imbalance.

9. [Trisomy 21 and superoxide dismutase-1 (IPO-A). Tentative localization of sub-band 21Q22.1].

10. A case of 21q--syndrome with normal SOD-1 activity.

1. Analysis of a familial three way translocation involving chromosomes 3q, 6q, and 15q by high resolution banding and fluorescent in situ hybridisation (FISH) shows two different unbalanced karyotypes in sibs.

2. Familial t(8;15)(p23.3;q22.3): report of two cases with dup(15) (q22.3----qter).

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

4. Assignment of human phosphoribosylglycinamide synthetase locus to region 21q221.

5. Regional mapping of liver type 6 phosphofructokinase isoenzyme on chromosome 21.

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

7. Tetrasomy 15q: two marker chromosomes with no detectable alpha-satellite DNA.

8. Partial trisomy of chromosome 15q and partial monopsony of 6q due to maternal balanced translocation.

9. Chromosome 15 structural abnormalities: effect on IGF1R gene expression and function.