Zobrazeno 1 - 3 of 3 pro vyhledávání: '"Alexandra S. Richter"'
1
U-type exchange in a paracentric inversion as a possible mechanism of origin of an inverted tandem duplication of chromosome 8
Autor: V M Der Kaloustian, Alexandra S. Richter, John J. Mitchell, Robert S. Sparkes, Bernhard H. F. Weber, T. Kojis, Michael R. Hayden, Gordon V. Watters, S. Luscombe, Michel Vekemans
Publikováno v: American Journal of Medical Genetics. 49:384-387
A mentally retarded male with dysmorphic features was found to have a de novo 46,XY,inv dup(8) (p.23.1-->12). Confirmation of the segments duplicated in the rearrangement was achieved by biochemical analysis of glutathione reductase, which maps to 8p
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d6ed8115bd4fdf579560f240ad66974
https://doi.org/10.1002/ajmg.1320490406
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2
A case of premature thelarche with no central cause or genetic variants within the estrogen receptor signaling pathway
Autor: M J E Walenkamp, J Wang, B S Katzenellenbogen, Ryan J. Hartmaier, Steffi Oesterreich, Alexandra S. Richter, J.M. Wit
Publikováno v: Journal of pediatric endocrinologymetabolism : JPEM. 22(8)
Background Premature thelarche is defined as breast development before 8 years of age. This is most often caused by central hormone disregulation and is accompanied by concurrent bone maturation. However, we present a case of premature thelarche with
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::508984a38e61183be53d29e9bf58baa1
https://pubmed.ncbi.nlm.nih.gov/19845126
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