Search Results - "Lienhardt-Roussie, Anne"

Demographic Characteristics, Risk Factors, and Presenting Features of Children with Symptomatic Nutritional Rickets: A French Series.

Authors: Flot, Claire Porquet-Bordes, Valérie Bacchetta, Justine et al.

Source: Hormone Research in Paediatrics. 2020, Vol. 93 Issue 5, p304-312.

Le syndrome d’hyperimmunoglobulinémie D peut être associé à une dénutrition ainsi qu’à des carences en phosphore et en vitamines.

Authors: Voisin, Angélique Lienhardt-Roussie, Anne Fayemendy, Philippe et al.

Source: Nutrition Clinique et Métabolisme. Dec2015, Vol. 29 Issue 4, p263-266. 4p.

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Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2.

Authors: Dodé, Catherine Teixeira, Luis Levilliers, Jacqueline et al.

Source: PLoS Genetics. Oct2006, Vol. 3 Issue 4, p1648-1652. 5p.

Two novel mutations of the calcium-sensing receptor gene affecting the same amino acid position lead to opposite phenotypes and reveal the importance of p.N802 on receptor activity.

Authors: Lia-Baldini, Anne-Sophie Magdelaine, Corinne Nizou, Angélique et al.

Source: European Journal of Endocrinology. Feb2013, Vol. 168 Issue 2, pK27-K34. 8p.

Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in CYP11A1 Gene.

Authors: Goursaud C Mallet D Janin A et al.

Source: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2018 Sep 05; Vol. 9, pp. 491. Date of Electronic Publication: 2018 Sep 05 (Print Publication: 2018).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: PubMed not MEDLINE

Practice patterns for chronic hypoparathyroidism: data from patients and physicians in France.

Authors: Bertocchio JP Grosset N Groussin L et al.

Source: Endocrine connections [Endocr Connect] 2022 Jan 31; Vol. 11 (1). Date of Electronic Publication: 2022 Jan 31.

Publication Type: Journal Article

Journal Info: Publisher: BioScientifica Country of Publication: England NLM ID: 101598413 Publication Model: Electronic Cited Medium: Print ISSN: 2049-3614 (Print) Linking ISSN: 20493614 NLM ISO Abbreviation: Endocr Connect Subsets: PubMed not MEDLINE

Association of environmental markers with childhood type 1 diabetes mellitus revealed by a long questionnaire on early life exposures and lifestyle in a case-control study.

Authors: Balazard F Le Fur S Valtat S et al.

Corporate Authors: Balazard F Le Fur S Valtat S et al.

Source: BMC public health [BMC Public Health] 2016 Sep 29; Vol. 16 (1), pp. 1021. Date of Electronic Publication: 2016 Sep 29.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100968562 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2458 (Electronic) Linking ISSN: 14712458 NLM ISO Abbreviation: BMC Public Health

Treatment experience and long-term follow-up data in two severe neonatal hyperparathyroidism cases.

Authors: Savas-Erdeve S Sagsak E Keskin M et al.

Source: Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2016 Sep 01; Vol. 29 (9), pp. 1103-10.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Walter de Gruyter Country of Publication: Germany NLM ID: 9508900 Publication Model: Print Cited Medium: Internet ISSN: 2191-0251 (Electronic) Linking ISSN: 0334018X NLM ISO Abbreviation: J Pediatr Endocrinol Metab Subsets: MEDLINE

Presenting features and molecular genetics of primary hyperparathyroidism in the paediatric population.

Authors: El Allali Y Hermetet C Bacchetta J et al.

Source: European journal of endocrinology [Eur J Endocrinol] 2021 Feb; Vol. 184 (2), pp. 347-355.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 9423848 Publication Model: Print Cited Medium: Internet ISSN: 1479-683X (Electronic) Linking ISSN: 08044643 NLM ISO Abbreviation: Eur J Endocrinol Subsets: MEDLINE

Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction.

Authors: Abi Habib W Brioude F Edouard T et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2018 Feb; Vol. 20 (2), pp. 250-258. Date of Electronic Publication: 2017 Aug 10.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

P450 Oxidoreductase Deficiency: Loss of Activity Caused by Protein Instability From a Novel L374H Mutation.

Authors: Parween S Roucher-Boulez F Flück CE et al.

Source: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2016 Dec; Vol. 101 (12), pp. 4789-4798. Date of Electronic Publication: 2016 Sep 07.

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

Late prenatal dexamethasone and phenotype variations in 46,XX CAH: concerns about current protocols and benefits for surgical procedures.

Authors: Gorduza D Tardy-Guidollet V Robert E et al.

Source: Journal of pediatric urology [J Pediatr Urol] 2014 Oct; Vol. 10 (5), pp. 941-7. Date of Electronic Publication: 2014 Mar 15.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Elsevier Country of Publication: England NLM ID: 101233150 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-4898 (Electronic) Linking ISSN: 14775131 NLM ISO Abbreviation: J Pediatr Urol Subsets: MEDLINE

[Height and weight delay in growth].

Transliterated Title: Retard de croissance staturo-pondérale.

Authors: Lienhardt-Roussie A; Endocrinologie pédiatrique, hôpital de la Mère et de l'Enfant, 87042 Limoges Cedex. anne.lienhardt@chu-limoges.fr

Source: La Revue du praticien [Rev Prat] 2011 Oct; Vol. 61 (8), pp. 1133-40.

Publication Type: Journal Article

Journal Info: Publisher: J.-B. Baillière Country of Publication: France NLM ID: 0404334 Publication Model: Print Cited Medium: Print ISSN: 0035-2640 (Print) Linking ISSN: 00352640 NLM ISO Abbreviation: Rev Prat Subsets: MEDLINE

A comparative phenotypic study of kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes.

Authors: Sarfati J Guiochon-Mantel A Rondard P et al.

Source: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2010 Feb; Vol. 95 (2), pp. 659-69. Date of Electronic Publication: 2009 Dec 18.

Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE