Results 191 to 200 of about 2,689 (218)

A familial paracentric inv(1)(q42q44) resulting in a child with a del(1)(q42) karyotype.

Annales de genetique, 1986
The derivation of a 46,XY,del(1)(q42) chromosome complement in a mentally retarded child from a maternal paracentric inv(1)(q42q44) is discussed and the clinical findings are compared to previously reported cases of the same deletion syndrome.
M, Speevak, A G, Hunter, H, Hughes, D M, Cox   +3 more
openaire   +1 more source

[Long-arm deletion of chromosome 1: 46,XY, del (1) (Q42) (author's transl)].

Anales espanoles de pediatria, 1979
A case of long-arm deletion of chromosome No. 1: 46,XY, del (1) (q42) is reported. From the revised bibliography only two cases are comparable cytogenetically, not so phenotypically. The usefulness of the recent banding techniques in the precise diagnosis of small structural anomalies of the chromosome is outlined and the difficulty in establishing the
M, Molina, J M, Santolaya, G, Saitua, M, Hernández   +3 more
openaire   +1 more source

Regional assignment of the structural gene for human acid beta-glucosidase to q42 leads to qter on chromosome 1.

Cytogenetics and cell genetics, 1983
The structural gene for human acid beta-glucosidase (GBA) has been regionally assigned to a narrow region on chromosome 1 using somatic cell hybridization, specific immunoprecipitation, and assay with the natural substrate. A human fibroblast line, 46,XX,del(1)(pter leads to q42:), was fused with mouse RAG fibroblasts and the heterokaryons were ...
E A, Devine, M, Smith, F X, Arredondo-Vega, B, Shafit-Zagardo, R J, Desnick   +4 more
openaire   +1 more source

Characterization of a novel acquired der(1)del(1)(p13p31)t(1;15)(q42;q15) in a high risk t(12;21)-positive acute lymphoblastic leukemia

Gene, 2016
The t(12;21)(p13;q22) with ETV6-RUNX1 fusion occurs in 25% of cases of B-cell precursor acute lymphoblastic leukemia (BCP-ALL); and is generally associated with favorable prognosis. However, 15-20% of the t(12;21)-positive cases are associated with high-risk disease due to for example slow early responses to therapy.
openaire   +3 more sources

Experimental research on the fatigue crack growth behaviour of Q420C

Journal of Constructional Steel Research, 2022
Mei-Ni Su
exaly  

Fatigue performance of Q420C steel fillet-welded joints at low temperatures

Structures, 2023
Xiaojun Li, Guoshan Xu, Fenghua Huang
exaly  

Experimental and numerical investigations of crack growth of hot-rolled steel Q420C using cohesive zone model

Theoretical and Applied Fracture Mechanics, 2023
Mei-Ni Su
exaly  

Assignment of enolase processed pseudogene (ENO1P) to human chromosome 1 bands 1q41→q42

Cytogenetics and Cell Genetics, 2008
M R, Ribaudo, A, Di Leonardo, P, Rubino, A, Giallongo, S, Feo   +4 more
openaire   +2 more sources

Study on periodic immersion and infrared aging corrosion behavior of bridge weathering steel Q420qNH welded joint and plate in NaHSO3 solution

Materialwissenschaft Und Werkstofftechnik, 2023
T Guo, H Yang
exaly  

Experimental study on fatigue properties of Q420C steel welded joints at room temperature

Latin American Journal of Solids and Structures, 2022
Liguo Yang, Yongming Xing
exaly