Cardiovascular malformations found in 1286 externally normal human embryos alive in utero

Teratology ◽  
1976 ◽  
Vol 13 (3) ◽  
pp. 341-344 ◽  
Author(s):  
Reiji Semba
1993 ◽  
Vol 86 (5) ◽  
Author(s):  
Mirna Saraga-Babi� ◽  
Vedran Stefanovi� ◽  
Jorma Wartiovaara ◽  
Eero Lehtonen

1925 ◽  
Vol 53 (3) ◽  
pp. 533-567 ◽  
Author(s):  
Thomas H. Bryce

This memoir is based upon the study of three normal human embryos belonging to the period of development preceding the cleavage of the paraxial mesoderm into the primitive segments, as well as of certain abnormal specimens of the same early period which have yielded valuable corroborative data, but will not be described in detail. Well-preserved specimens belonging to these early stages are very rare, and our knowledge has been, and can only be, built up from the detailed descriptions of isolated cases by the individual observers into whose hands they happen to fall.


2020 ◽  
Vol 20 (1) ◽  
Author(s):  
L. Powell ◽  
M. Barroso-Gil ◽  
G. J. Clowry ◽  
L. A. Devlin ◽  
E. Molinari ◽  
...  

Abstract Background Joubert syndrome and related disorders (JSRD) and Jeune syndrome are multisystem ciliopathy disorders with overlapping phenotypes. There are a growing number of genetic causes for these rare syndromes, including the recently described genes ARL3 and CEP120. Methods We sought to explore the developmental expression patterns of ARL3 and CEP120 in humans to gain additional understanding of these genetic conditions. We used an RNA in situ detection technique called RNAscope to characterise ARL3 and CEP120 expression patterns in human embryos and foetuses in collaboration with the MRC-Wellcome Trust Human Developmental Biology Resource. Results Both ARL3 and CEP120 are expressed in early human brain development, including the cerebellum and in the developing retina and kidney, consistent with the clinical phenotypes seen with pathogenic variants in these genes. Conclusions This study provides insights into the potential pathogenesis of JSRD by uncovering the spatial expression of two JSRD-causative genes during normal human development.


Author(s):  
Gonzague S. Kistler ◽  
Peter Groscurth

Tubuloreticular structures (TRS) consisting of branching tubules of variable length and with a diameter of 18-30 nm have been described within dilated endoplasmic reticulum cisternae of endothelial and other cells in a variety of conditions. Thus, TRS have been observed in apparently normal human and animal cells, in cells of patients with auto-immune disease (e. g. systemic lupus erythematodes), with neoplasia (leukemias, carcinomas, sarcomas) as well as with a number of viral infections caused by both DNA or RNA viruses. Whereas earlier investigators regarded TRS as viral or virus-like in nature, it is now widely accepted that these structures represent focal proliferations of ER-membranes and that they reflect a cellular response to a broad range of stimuli. The biological significance of TRS has, however, not been resolved.In rubella-infected human embryos and fetuses, vascular lesions are the most frequently observed light microscopical findings.


1987 ◽  
Vol 12 (2) ◽  
pp. 125-135 ◽  
Author(s):  
M. Wells ◽  
J. Bennett ◽  
J.N. Bulmer ◽  
P. Jackson ◽  
C.S. Holgate

2020 ◽  
Author(s):  
L Powell ◽  
M Barroso-Gil ◽  
Gavin J Clowry ◽  
Laura A Devlin ◽  
Elisa Molinari ◽  
...  

Abstract Background: Joubert syndrome and related disorders (JSRD) and Jeune syndrome are multisystem ciliopathy disorders with overlapping phenotypes. There are a growing number of genetic causes for these rare syndromes, including the recently described genes ARL3 and CEP120.Methods: We sought to explore the developmental expression patterns of ARL3 and CEP120 in humans to gain additional understanding of these genetic conditions. We used an RNA in situ detection technique called RNAscope to characterise ARL3 and CEP120 expression patterns in human embryos and foetuses in collaboration with the MRC-Wellcome Trust Human Developmental Biology Resource.Results: Both ARL3 and CEP120 are expressed in early human brain development, including the cerebellum and in the developing retina and kidney, consistent with the clinical phenotypes seen with pathogenic variants in these genes.Conclusions: This study provides insights into the potential pathogenesis of JSRD by uncovering the spatial expression of two JSRD-causative genes during normal human development.


1982 ◽  
Vol 10 (17) ◽  
pp. 5133-5147 ◽  
Author(s):  
Maggi Alan ◽  
G. Joan Grindlay ◽  
Lorraine Stefani ◽  
John Paul

2011 ◽  
Vol 22 (1) ◽  
pp. 13-25 ◽  
Author(s):  
P. A. Habas ◽  
J. A. Scott ◽  
A. Roosta ◽  
V. Rajagopalan ◽  
K. Kim ◽  
...  

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