Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Inge Francois"'
Autor:
Benedetta Izzi, Inge Francois, Veerle Labarque, Chantal Thys, Christine Wittevrongel, Koen Devriendt, Eric Legius, Annick Van den Bruel, Marc D'Hooghe, Diether Lambrechts, Francis de Zegher, Chris Van Geet, Kathleen Freson
Publikováno v:
PLoS ONE, Vol 7, Iss 6, p e38579 (2012)
Pseudohypoparathyroidism (PHP) indicates a group of heterogeneous disorders whose common feature is represented by impaired signaling of hormones that activate Gsalpha, encoded by the imprinted GNAS gene. PHP-Ib patients have isolated Parathormone (P
Externí odkaz:
https://doaj.org/article/d36396e9ab81486fbc4b2d29f01b5712
Autor:
Lars Sävendahl, Dominique Beckers, Inge Francois, Ann Nordgren, Nele Reynaert, F. de Zegher, Kristina Casteels, Giedre Grigelioniene, Carine Carels, Koenraad Devriendt, Tjitske Kleefstra, Charlotte W. Ockeloen
Publikováno v:
Hormone Research in Paediatrics, 83, 5, pp. 361-4
Hormone Research in Paediatrics, 83, 361-4
Hormone Research in Paediatrics, 83, 361-4
Background: KBG syndrome is a rare disorder characterized by intellectual disability and associated with macrodontia of the upper central incisors, specific craniofacial findings, short stature and skeletal anomalies. Genetic corroboration of a clini
Autor:
Dominique Beckers, Nele Reynaert, Inge Francois, Francis de Zegher, Koenraad Devriendt, Kristina Casteels
Publikováno v:
Hormone Research in Paediatrics. 85:288-290
Background: CHARGE syndrome is a variable entity. Clinical diagnosis is based on the Blake-Verloes criteria and can be confirmed by identifying a mutation or deletion in the CHD7 gene. Hypoplasia of the male genitalia and lack or incomplete secondary
Autor:
Inge Francois, K. De Waele, Inge Gies, Dominique Beckers, J. De Schepper, Martine Cools, Véronique Beauloye, J Schaefers, Philippe A. Lysy
Publikováno v:
CLINICAL ENDOCRINOLOGY
Clinical Endocrinology, Vol. 87, no. 2, p. 171-176 (2017)
Clinical endocrinology, Vol. 87, no.2, p. 171-176 (2017)
Clinical Endocrinology, Vol. 87, no. 2, p. 171-176 (2017)
Clinical endocrinology, Vol. 87, no.2, p. 171-176 (2017)
Objective Despite lymphocytic or autoimmune infundibuloneurohypophysitis (INH) is an increasingly recognized etiology in children with central diabetes insipidus, clinical data on epidemiology (clinical evolution, predisposing factors, complications)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b9856df645c58a619b17c1750d3b802
https://hdl.handle.net/1854/LU-8554770
https://hdl.handle.net/1854/LU-8554770
Autor:
Luc Régal, Erik-Jan Kamsteeg, Damien Lederer, Nicol C. Voermans, Alberto Burlina, John W.M. Creemers, David Gil Ortega, Sandra Meulemans, Tord Jonson, Mia Olsson Engman, A. Jeannette M. Hoogeboom, Meyke Schouten, Emma Mårtensson, María Jesús Juan Fita, Tess Hollemans, Isabelle Maystadt, Inge Francois
Publikováno v:
Genetics in Medicine, 20, 109-118
Genetics in Medicine, 20(1), 109-118. Lippincott Williams & Wilkins
Genetics in Medicine, 20, 1, pp. 109-118
Genetics in Medicine, 20(1), 109-118. Lippincott Williams & Wilkins
Genetics in Medicine, 20, 1, pp. 109-118
PurposePREPL deficiency causes neonatal hypotonia, ptosis, neonatal feeding difficulties, childhood obesity, xerostomia, and growth hormone deficiency. Different recessive contiguous gene deletion syndromes involving PREPL and a variable combination
Autor:
Gerasimos E Krassas, Martin O. Savage, Inge Francois, G. Michael Besser, Helen L Storr, Farhad Afshar, Paul V. Carroll, P. Nicholas Plowman, Ashley B. Grossman
Transsphenoidal surgery (TSS) is considered first-line treatment for Cushing's disease (CD). Options for treatment of postoperative persisting hypercortisolemia are pituitary radiotherapy (RT), repeat TSS, or bilateral adrenalectomy. From 1983 to 200
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95631616a76e017773a2f17393166987
https://doi.org/10.1210/jc.2002-021032
https://doi.org/10.1210/jc.2002-021032
Publikováno v:
Pediatric Nephrology, 27(11), 2123-2127. SPRINGER
Cystinosis is an autosomal recessive disorder characterized by intralysosomal cystine accumulation. Growth retardation is more pronounced in cystinosis than in other chronic kidney diseases and is mostly not corrected by cysteamine.Growth was evaluat
Autor:
Inge Francois, Bert Callewaert, Sara Benito-Sanz, José Luis Gómez-Skarmeta, Ana Fernández-Miñán, Jean De Schepper, Björn Menten, Sandra Janssens, Karen E. Heath, Kathleen De Waele, Elfride De Baere, Hannah Verdin
Publikováno v:
Scientific Reports
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Biblos-e Archivo. Repositorio Institucional de la UAM
instname
SCIENTIFIC REPORTS
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Biblos-e Archivo. Repositorio Institucional de la UAM
instname
SCIENTIFIC REPORTS
Genetic defects such as copy number variations (CNVs) in non-coding regions containing conserved non-coding elements (CNEs) outside the transcription unit of their target gene, can underlie genetic disease. An example of this is the short stature hom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee724130c5a1673c3bae17a2574ef013
https://doi.org/10.1038/srep17667
https://doi.org/10.1038/srep17667
Autor:
Claudio E. Kater, Mandy Skunde, Carlos Alberto Longui, Katrien Lagrou, Inge Francois, Anne M. Wikström, Meera Thomas, Julio Antonio de Souza e Almeida, J. De Schepper, Martin O. Savage, Julien S. Baker, D. Hullin, Tatiane Sousa e Silva, Katrin Koehler, Lílian Sukusima Hayashi, Thelma Gomes Faria, Mariusz Ostański, Christelle Froidecoeur, Michael R. Graham, M. Craen, Richard I. G. Holt, Angela Huebner, Andrew T. Kicman, David A. Cowan, Dominique Beckers, Claudine Heinrichs, Marc Maes, Helen L Storr, G. Thiry-Counson, R. Rooman, Murilo Rezende Melo, Peter Evans, Leo Dunkel, Artur Mazur, C. de Beaufort, Markus Schuelke, Jayme F. Cobra, M N Rocha, P. Nicholas Plowman, Cláudia Dutra Costantin Faria, Guy Massa, Ashley B. Grossman, Peter H. Sönksen, Farhad Afshar, Li F. Chan, Non Thomas, Bruce Davies, Marie-Christine Lebrethon
Publikováno v:
Hormone Research in Paediatrics. 69:I-IV
Autor:
Nele, Reynaert, Francis, de Zegher, Inge, Francois, Koenraad, Devriendt, Dominique, Beckers, Kristina, Casteels
Publikováno v:
Hormone research in paediatrics. 85(4)
CHARGE syndrome is a variable entity. Clinical diagnosis is based on the Blake-Verloes criteria and can be confirmed by identifying a mutation or deletion in the CHD7 gene. Hypoplasia of the male genitalia and lack or incomplete secondary sexual deve