Documentos de Hwa V. | REDI

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Mostrando 4 resultados de: 4

Subtipo de publicación

Publisher

Journal of Clinical Endocrinology and Metabolism(2)

American Journal of Medical Genetics, Part A(1)

European Journal of Endocrinology(1)

Área temáticas

Enfermedades(3)

Fisiología humana(3)

Ginecología, obstetricia, pediatría, geriatría(2)

Biografía, genealogía, insignias(1)

Área de conocimiento

Medicina interna(1)

Objetivos de Desarrollo Sostenible

ODS 10: Reducción de las desigualdades(4)

ODS 3: Salud y bienestar(4)

ODS 2: Hambre cero(3)

ODS 17: Alianzas para lograr los objetivos(1)

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)

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.

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.

Intrauterine and postnatal growth failure with normal GH/IGF1 axis and insulin-resistant diabetes in a consanguineous kinship

Abstract: Objective: To describe the clinical and biochemical features, and perform molecular analysis for can

Palabras claves:

Fang P., Hwa V., Jaime Guevara-Aguirre, Kerns S.L., Marco Guevara-Aguirre, Ostrer H., Procel P., Rosenbloom A.L., Rosenfeld R.G., Saavedra J.

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.