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1.
Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort.
Clin Endocrinol (Oxf)
; 94(2): 277-289, 2021 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-33098107
2.
Noonan syndrome, PTPN11 mutations, and brain tumors. A clinical report and review of the literature.
Am J Med Genet A
; 173(4): 1061-1065, 2017 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-28328117
3.
Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature.
Proc Natl Acad Sci U S A
; 109(11): 4257-62, 2012 Mar 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-22371576
4.
A common polymorphism of the growth hormone receptor is associated with increased responsiveness to growth hormone.
Nat Genet
; 36(7): 720-4, 2004 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-15208626
5.
OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels.
Hum Mutat
; 31(1): 20-6, 2010 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-19877176
6.
Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome.
Eur J Med Genet
; 63(12): 104064, 2020 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-32998064
7.
Necdin plays a role in the serotonergic modulation of the mouse respiratory network: implication for Prader-Willi syndrome.
J Neurosci
; 28(7): 1745-55, 2008 Feb 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-18272695
8.
Growth hormone in combination with leuprorelin in pubertal children with idiopathic short stature.
Endocr Connect
; 7(5): 708-718, 2018 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-29669803
9.
Genetic study of the melanin-concentrating hormone receptor 2 in childhood and adulthood severe obesity.
J Clin Endocrinol Metab
; 92(11): 4403-9, 2007 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-17698913
10.
No contribution of angiotensin-converting enzyme (ACE) gene variants to severe obesity: a model for comprehensive case/control and quantitative cladistic analysis of ACE in human diseases.
Eur J Hum Genet
; 15(3): 320-7, 2007 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-17164796
11.
Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients.
J Clin Endocrinol Metab
; 102(1): 290-301, 2017 01 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27820671
12.
Association of melanin-concentrating hormone receptor 1 5' polymorphism with early-onset extreme obesity.
Diabetes
; 54(10): 3049-55, 2005 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-16186414
13.
Is glutamate decarboxylase 2 (GAD2) a genetic link between low birth weight and subsequent development of obesity in children?
J Clin Endocrinol Metab
; 90(4): 2384-90, 2005 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-15671113
14.
Adult height and pubertal growth in Turner syndrome after treatment with recombinant growth hormone.
J Clin Endocrinol Metab
; 90(9): 5197-204, 2005 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-15998771
15.
Quality of life determinants in young women with turner's syndrome after growth hormone treatment: results of the StaTur population-based cohort study.
J Clin Endocrinol Metab
; 90(4): 1992-7, 2005 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-15644402
16.
Implication of the Pro12Ala polymorphism of the PPAR-gamma 2 gene in type 2 diabetes and obesity in the French population.
BMC Med Genet
; 6: 11, 2005 Mar 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-15784141
17.
An N-terminal WT1 mutation (P181S) in an XY patient with ambiguous genitalia, normal testosterone production, absence of kidney disease and associated heart defect: enlarging the phenotypic spectrum of WT1 defects.
Eur J Endocrinol
; 150(6): 825-30, 2004 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-15191353
18.
Associations of glucocorticoid receptor and corticosteroid-binding globulin gene polymorphisms on fat mass and fat mass distribution in prepubertal obese children.
J Physiol Biochem
; 68(4): 645-50, 2012 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-22576823
19.
[Obesity in children and adults]. / Obésité de l'enfant et de l'adulte. No 2--Obésité de l'enfant.
Rev Prat
; 54(9): 997-1005, 2004 May 15.
Artículo
en Francés
| MEDLINE | ID: mdl-15296280
20.
Breathing deficits of the Prader-Willi syndrome.
Respir Physiol Neurobiol
; 168(1-2): 119-24, 2009 Aug 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-19712904