Francke U.
26
Coauthors
5
Documentos
Volumen de publicaciones por año
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| Año de publicación | Num. Publicaciones |
|---|---|
| 1992 | 1 |
| 1993 | 1 |
| 1994 | 1 |
| 1998 | 1 |
| 1999 | 1 |
Publicaciones por áreas de conocimiento
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| Área de conocimiento | Num. Publicaciones |
|---|---|
| Genética | 8 |
| Biología | 1 |
Publicaciones por áreas temáticas
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| Área temática | Num. Publicaciones |
|---|---|
| Fisiología humana | 4 |
| Enfermedades | 4 |
| Fisiología y materias afines | 2 |
Principales fuentes de datos
| Origen | Num. Publicaciones |
|---|---|
| Scopus | 5 |
| Google Scholar | 0 |
| RRAAE | 0 |
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Coautores destacados por número de publicaciones
| Coautor | Num. Publicaciones |
|---|---|
| Jaime Guevara-Aguirre | 5 |
| Rosenbloom A.L. | 5 |
| Berg M.A. | 3 |
| Pérez‐Jurado L. | 2 |
| Rosenfeld R.G. | 2 |
| Hopp M. | 1 |
| Gracia R. | 1 |
| Argente J. | 1 |
| Chernausek S. | 1 |
| Toledo S. | 1 |
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Publicaciones del autor
Growth hormone receptor deficiency in Ecuador
OtherAbstract:Palabras claves:Autores:Francke U., Jaime Guevara-Aguirre, Rosenbloom A.L., Rosenfeld R.G.Fuentes:scopusStature in Ecuadorians heterozygous for growth hormone receptor gene E180 splice mutation does not differ from that of homozygous normal relatives
ArticleAbstract: Heterozygosity for certain mutations of the GH receptor (GHR) gene has been proposed as the cause ofPalabras claves:Autores:Berg M.A., Francke U., Jaime Guevara-Aguirre, Rosenbloom A.L.Fuentes:scopusMutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorean patients with Laron syndrome
ArticleAbstract: Laron syndrome is an autosomal recessive condition characterized by resistance to growth hormone. WePalabras claves:Growth hormone receptor, Laron dwarfism, mutation, RNA splicingAutores:Berg M.A., Francke U., Jaime Guevara-Aguirre, Rosenbloom A.L., Rosenfeld R.G.Fuentes:scopusReceptor mutations and haplotypes in growth hormone receptor deficiency: a global survey and identification of the Ecuadorean E180splice mutation in an oriental Jewish patient
ArticleAbstract: Eight different mutations were detected in the growth hormone (GH) receptor gene of patients with inPalabras claves:carrier detection test, growth hormone insensiiivity, growth hormone receptor defects, Laron syndrome, mechanisms of mutation, MnlI restriction enzymeAutores:Berg M., Francke U., Jaime Guevara-Aguirre, Laron Z., Milner R., Peoples R., Pérez‐Jurado L., Rosenbloom A.L.Fuentes:scopusDiverse growth hormone receptor gene mutations in Laron syndrome
ArticleAbstract: To better understand the molecular genetic basis and genetic epidemiology of Laron syndrome (growth-Palabras claves:Autores:Argente J., Berg M.A., Chernausek S., Francke U., Gracia R., Hopp M., Jaime Guevara-Aguirre, Pérez‐Jurado L., Rosenbloom A.L., Toledo S.Fuentes:scopus