Documentos de Hwa V. | REDI

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Filtros aplicados

Área de conocimiento: "Genética"

Subtipo de publicación

Publisher

Journal of Clinical Endocrinology and Metabolism(2)

American Journal of Medical Genetics, Part A(1)

Área temáticas

Enfermedades(2)

Fisiología humana(2)

Biografía, genealogía, insignias(1)

Área de conocimiento

Año de Publicación

Origen

Palabras Claves

Growth hormone insensitivity(1)

Growth hormone receptor(1)

Growth hormone receptor deficiency(1)

Laron syndrome(1)

Lineage markers(1)

A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes

Abstract: Design, Setting, and Participants: Genomic DNA samples (15 affected and 26 unaffected from a six-gen

Palabras claves:

Andres Zurita, Andrew S., Carolina Guevara, Dauber A., Geng J., Guo M., Hwa V., Jaime Guevara-Aguirre, Kerns S.L., Marco Guevara-Aguirre, Oddoux C., Ostrer H., Rosenfeld R.G., Shen Y.

Growth Hormone (GH) insensitivity and insulin-like growth factor-I deficiency in inuit subjects and an ecuadorian cohort: Functional studies of two codon 180 GH receptor gene mutations (Journal of Clinical Endocrinology and Metabolism (2008) 93, (1030-1037))

Palabras claves:

Fang P., Girgis R., Hwa V., Jaime Guevara-Aguirre, Little B., Pratt K.L., Rosenfeld R.G.

The E180splice mutation in the GHR gene causing laron syndrome: Witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World?

Abstract: Laron syndrome (LS) is a genetic disorder caused by mutations in the growth hormone receptor (GHR) g

Palabras claves:

Growth hormone insensitivity, Growth hormone receptor, Growth hormone receptor deficiency, Laron syndrome, Lineage markers, Mitochondrial haplogroups, Y-chromosome haplogroups

Arnhold I.J.P., Cassorla F., Damiani D., Fridman C., Gonçalves F.T., Hwa V., Jaime Guevara-Aguirre, Jorge A.A.L., Laron Z., Lins T.S.S., Pinto E.M., Rosembloom A.L., Rosenfeld R.G., Shevah O.