covid
Buscar en
Anales de Pediatría Continuada
Toda la web
Inicio Anales de Pediatría Continuada Alteraciones genéticas en los déficit de hormona del crecimiento
Información de la revista
Vol. 2. Núm. 1.
Páginas 31-35 (enero 2004)
Compartir
Compartir
Descargar PDF
Más opciones de artículo
Vol. 2. Núm. 1.
Páginas 31-35 (enero 2004)
Acceso a texto completo
Alteraciones genéticas en los déficit de hormona del crecimiento
Visitas
8071
Ángel Campos, Jesús Argente
Universidad Autónoma de Madrid. Departamento de Pediatrí.Hospital Infantil Universitario Niño Jesús. Servicio de Endocrinología y Unidad de Investigación. Madrid. España.
Este artículo ha recibido
Información del artículo
El Texto completo está disponible en PDF
Bibliografía
[1.]
G.P. August, B.M. Lippe, L. Blethen, R.G. Rosenfeld, S.A. Seeling, A.J. Johanson, et al.
Growth hormone treatment in the United States: demographic and diagnostic features of 2331 children.
J Pediatr, 116 (1990), pp. 899-903
[2.]
R. Lindsay, M. Feldkamp, D. Harris, J. Robertson, M. Rallison.
Utah Growth Study: growth standards and the prevalence of growth hormone deficiency.
J Pediatr, 125 (1994), pp. 29-35
[3.]
J. Argente, J. Pozo, L.A. Perez-Jurado.
Hipocrecimiento por alteraciones de la secrecion de hormona de crecimiento.
Tratado de Endocrinologia pediatrica y de la adolescencia, pp. 303-337
[4.]
J.A. Phillips III.
Inherited defects in growth hormone synthesis and action.
The metabolic basis of inherited disease, 6.a ed, pp. 1965-1983
[5.]
A.M. Procter, J.A. Phillips III, D.N. Cooper.
The molecular genetics of growth hormone deficiency.
Hum Genet, 103 (1998), pp. 255-272
[6.]
G. Binder.
Isolated growth hormone deficiency and the GH-1 gene: Update 2002.
Horm Res, 58 (2002), pp. 2-6
[7.]
J.D. Cogan, J.A. Phillips III, N.A. Sakati, H. Frisch, E. Schoeber, D. Milner.
Heterogeneous growth hormone (GH) gene mutations in familial GH deficiency.
J Clin Endocrinol Metab, 76 (1993), pp. 1224-1228
[8.]
E. Leiberman, D. Pesler, R. Parvari, K. Elbedour, H. Abdul-Latif, M.R. Brown, et al.
Short stature in carriers of recessive mutation causing familial isolated growth hormone deficiency.
Am J Med Genet, 90 (2000), pp. 188-192
[9.]
H. Abdul-Latif, E. Leiberman, M.R. Brown, R. Carmi, J.S. Parks.
Growth hormone deficiency type IB caused by criptic splicing of the GH-1 gene.
J Pediatr Endocrinol Metab, 13 (2000), pp. 21-28
[10.]
M.P. .Wajnrajch, J.M. Gertner, M.D. Harbison, S.C. Chua, R.L. Leibel.
Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse.
Nat Genet, 12 (1996), pp. 88-90
[11.]
R. Salvatori, C.Y. Hayashida, M.H. Aguiar-Oliveira, Phillips JA 3.r.d., A.H. Souza, R.G. Gondo, et al.
Familial dwarfism due to a novel mutation of the growth hormone- releasing hormone receptor gene.
J Clin Endocrinol Metab, 84 (1999), pp. 917-923
[12.]
R. Salvatori, X. Fan, Phillips JA 3.r.d., R. Espigares-Martin, I. Martin De Lara, K.L. Freeman, et al.
Three new mutations in the gene for the growth hormone (GH)- releasing hormone receptor in familial isolated GH deficiency type IB.
J Clin Endocrinol Metab, 86 (2001), pp. 273-279
[13.]
M. Carakushansky, A.J. Whatmore, P.E. Clayton, S.M. Shalet, H.K. Gleeson, D.A. Price, et al.
A new missense mutation in the growth hormone-releasing hormone receptor gene in familial isolated GH deficiency.
Eur J Endocrinol, 148 (2003), pp. 25-30
[14.]
J.D. Cogan, M.A. Prince, S. Lekhaula, S. Bundey, A. Futrakul, E.M. McCarthy, et al.
A novel mechanism of aberrant pre mRNA splicing in humans.
Hum Mol Genet, 6 (1997), pp. 909-912
[15.]
E.M. McCarthy, J.A. Phillips III.
Characterization of an intron splice enhancer that regulates alternative splicing of human GH pre-mRNA.
Hum Mol Genet, 7 (1998), pp. 1491-1496
[16.]
G. Binder, E. Keller, M. Mix, G.G. Massa, W.H. Stokvis-Brantsma, J.M. Wit, et al.
Isolated GH deficiency with dominant inheritance: new mutations, new insights.
J Clin Endocrinol Metab, 86 (2001), pp. 3877-3881
[17.]
J. Deladoey, P. Stocker, P.E. Mullis.
Autosomal dominant GH deficiency due to an Arg 183His GH-1 gene mutation: clinical and molecular evidence of impaired regulated GH secretion.
J Clin Endocrinol Metab, 86 (2001), pp. 3941-3947
[18.]
T.A. Fleisher, R.M. White, S. Broder, S.P. Nissley, R.M. Blaese, J.J. Mulvihill, et al.
Xlinked hypogammaglobulinemia and isolate growth hormone deficiency.
N Engl J Med, 302 (1980), pp. 1429-1434
[19.]
M.E. Conley, A.W. Burks, H.G. Herrog, J.M. Puck.
Molecular analysis of X-linked agammaglobulinemia with growth hormone deficiency.
J Pediatr, 119 (1992), pp. 392-397
[20.]
R. Rapaport, J. Oleske, H. Ahdieh, S. Solomon, S. Delfaus.
Suppresion of immune function in growth hormone deficient children during treatment with human growth hormone.
J Pediatr, 109 (1993), pp. 434-439
[21.]
B. Duriez, P. Duquesnoy, F. Dastot, P. Bougnères, S. Amselem, M. Goossens.
An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency.
FEBS Lett, 346 (1994), pp. 165-170
[22.]
K. Abo, H. Nishio, M.J. Lee, D. Tsuzuki, T. Takahashi, S. Yoshida, et al.
A novel single basepair insertion in exon 6 of the Bruton's tyrosine kinase (Btk) gene from a Japanese X-linked agammaglobulinemia patient with growth hormone insufficiency.
Hum Mutat, 11 (1998), pp. 336
[23.]
J.S. Parks, M.R. Brown, D.L. Hurley, C.J. Phelps, P. Wajnrajch.
Heritable disorders of pituitary development.
J Clin Endocrinol Metab, 84 (1999), pp. 4362-4370
[24.]
I. Netchine, M.L. Sobrier, H. Krude, D. Schnabel, M. Maghnie, E. Marcos, et al.
Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency.
Nat Genet, 25 (2000), pp. 182-186
[25.]
K. Machinis, J. Pantel, I. Netchine, J. Léger, O.J.A. Camand, M.L. Sobrier, et al.
Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4.
Am J Hum Genet, 69 (2001), pp. 961-968
[26.]
M.T. Dattani, J.P. Martínez-Barbera, P.Q. Thomas, J.M. Brickman, R. Gupta, I.L. Mârtensson, et al.
Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse.
Nat Genet, 19 (1998), pp. 125-133
[27.]
M. Kojima, H. Hosoda, Y. Date, M. Nakazato, H. Matsuo, K. Kangawa.
Ghrelin is a growth-hormone-releasing acylated peptid from the stomach.
Nature, 402 (1999), pp. 656-660
[28.]
A. Campos-Barros, J. Argente.
Bases moleculares del hipocrecimiento armónico.
Rev Esp Pediatr, 58 (2002), pp. 73-90
Copyright © 2004. Elsevier España, S.L.. Todos los derechos reservados
Descargar PDF
Opciones de artículo
es en pt

¿Es usted profesional sanitario apto para prescribir o dispensar medicamentos?

Are you a health professional able to prescribe or dispense drugs?

Você é um profissional de saúde habilitado a prescrever ou dispensar medicamentos