Search Results - "GATELAIS, Frédérique"
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Baseline Inhibin B and Anti-Mullerian Hormone Measurements for Diagnosis of Hypogonadotropic Hypogonadism (HH) in Boys with Delayed Puberty
Published in The journal of clinical endocrinology and metabolism (01-12-2010)“…Context: The diagnosis of isolated hypogonadotropic hypogonadism (IHH) in boys with delayed puberty is challenging, as may be the diagnosis of hypogonadotropic…”
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2
High Birth Weight and Early Postnatal Weight Gain Protect Obese Children and Adolescents From Truncal Adiposity and Insulin Resistance
Published in Diabetes care (01-05-2008)“…High Birth Weight and Early Postnatal Weight Gain Protect Obese Children and Adolescents From Truncal Adiposity and Insulin Resistance Metabolically healthy…”
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3
Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations
Published in Human mutation (01-11-2019)“…Isolated growth hormone deficiency (IGHD) is a rare condition mainly caused by mutations in GH1. The aim of this study was to assess the contribution of GHRHR…”
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4
High Birth Weight and Early Postnatal Weight Gain Protect Obese Children and Adolescents From Truncal Adiposity and Insulin Resistance : Metabolically healthy but obese subjects?
Published in Diabetes care (01-05-2008)“…Low birth weight (LBW), no early catch-up weight, and subsequent fat accumulation have been associated with increased risks of insulin resistance from…”
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5
The Insulin-Like Growth Factor-I Response to Growth Hormone Is Increased in Prepubertal Children with Obesity and Tall Stature
Published in The journal of clinical endocrinology and metabolism (01-02-2007)“…Context: Children with obesity [body mass index (BMI) > +2 sd score (SDS)] and children with constitutional tall stature [CTS; height > +2 SDS)] have…”
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Impaired aerobic exercise adaptation in children and adolescents with craniopharyngioma is associated with hypothalamic involvement
Published in European journal of endocrinology (01-02-2012)“…ObjectiveMany patients treated for craniopharyngioma (CP) complain of a relative incapacity for physical activity. Whether this is due to an objective decrease…”
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Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies
Published in European journal of human genetics : EJHG (01-05-2012)“…In 65 patients, who had unexplained ocular developmental anomalies (ODAs) with at least one other birth defect and/or intellectual disability, we performed…”
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Divergent Effect of Endogenous and Exogenous Sex Steroids on the Insulin-Like Growth Factor I Response to Growth Hormone in Short Normal Adolescents
Published in The journal of clinical endocrinology and metabolism (01-12-2004)“…The lower responsiveness to GH in women than in men is probably due to a divergent effect of gonadal steroids. It is unknown, however, how the progressive…”
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The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing
Published in The journal of clinical endocrinology and metabolism (18-08-2023)“…Abstract Introduction Congenital hypothyroidism with gland-in-situ (CH-GIS) is usually attributed to mutations in the genes involved in thyroid hormone…”
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Novel compound heterozygous Thyroglobulin mutations c.745+1G>A/c.7036+2T>A associated with congenital goiter and hypothyroidism in a Vietnamese family. Identification of a new cryptic 5′ splice site in the exon 6
Published in Molecular and cellular endocrinology (15-03-2015)“…•This work reveals mechanistic details in the context of congenital hypothyroidism.•We identified two new mutations involved in thyroglobulin gene.•We report a…”
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The Severity of Congenital Hypothyroidism with Gland-in-situ Predicts Molecular Yield by Targeted NGS
Published in The journal of clinical endocrinology and metabolism (08-03-2023)“…Congenital hypothyroidism with gland-in-situ (CH-GIS) is usually attributed to mutations in the genes involved in thyroid hormone production. The diagnostic…”
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Effect of single and multiple courses of prenatal corticosteroids on 17-hydroxyprogesterone levels: Implication for neonatal screening of congenital adrenal hyperplasia
Published in Pediatric research (01-11-2004)“…Measurement of 17-hydroxyprogesterone (17-OHP) from filter-paper blood is widely used to screen for congenital adrenal hyperplasia (CAH). However, in…”
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L'enfant petit avec déficit en hormone de croissance: Les troubles de la croissance
Published in Médecine thérapeutique pédiatrie (2006)Get full text
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