Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction von Izzi, Benedetta, Francois, Inge, Labarque, Veerle, Thys, Chantal, Wittevrongel, Christine, Devriendt, Koen, Legius, Eric, Van den Bruel, Annick, D'Hooghe, Marc, Lambrechts, Diether, de Zegher, Francis, Van Geet, Chris, Freson, Kathleen

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Gain-of-function mutations in signal transducer and activator of transcription 1 ( STAT1 ): Chronic mucocutaneous candidiasis accompanied by enamel defects and delayed dental shedd... von Frans, Glynis, MPharm, Moens, Leen, PhD, Schaballie, Heidi, MD, Van Eyck, Lien, MD, MSc, Borgers, Heleen, PhD, Wuyts, Margareta, BSc, Dillaerts, Doreen, MSc, Vermeulen, Edith, MPharm, Dooley, James, PhD, Grimbacher, Bodo, MD, PhD, Cant, Andrew, MD, PhD, Declerck, Dominique, PhD, Peumans, Marleen, PhD, Renard, Marleen, MD, De Boeck, Kris, MD, PhD, Hoffman, Ilse, MD, PhD, François, Inge, MD, PhD, Liston, Adrian, PhD, Claessens, Frank, MD, PhD, Bossuyt, Xavier, MD, PhD, Meyts, Isabelle, MD, PhD

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PREPL deficiency: delineation of the phenotype and development of a functional blood assay von Régal, Luc, Mårtensson, Emma, Maystadt, Isabelle, Voermans, Nicol, Lederer, Damien, Burlina, Alberto, Juan Fita, María Jesús, Hoogeboom, A. Jeannette M., Olsson Engman, Mia, Hollemans, Tess, Schouten, Meyke, Meulemans, Sandra, Jonson, Tord, François, Inge, Gil Ortega, David, Kamsteeg, Erik-Jan, Creemers, John W.M.

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Cardiovascular pathology in males and females with 45,X/46,XY mosaicism von De Groote, Katya, Cools, Martine, De Schepper, Jean, Craen, Margarita, François, Inge, Devos, Daniel, Carbonez, Karlien, Eyskens, Benedicte, De Wolf, Daniel

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No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity von Izzi, Benedetta, de Zegher, Francis, Francois, Inge, del Favero, Jurgen, Goossens, Dirk, Wittevrongel, Christine, Thys, Chantal, Van Geet, Chris, Freson, Kathleen

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Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape von Verdin, Hannah, Fernández-Miñán, Ana, Benito-Sanz, Sara, Janssens, Sandra, Callewaert, Bert, De Waele, Kathleen, De Schepper, Jean, François, Inge, Menten, Björn, Heath, Karen E., Gómez-Skarmeta, José Luis, De Baere, Elfride

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Low birth weight and subsequent male subfertility von FRANCOIS, I, DE ZEGHER, F, SPIESSENS, C, D'HOOGHE, T, VANDERSCHUEREN, D

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Deletion of PREPL, a Gene Encoding a Putative Serine Oligopeptidase, in Patients with Hypotonia-Cystinuria Syndrome von Jaeken, Jaak, Martens, Kevin, François, Inge, Eyskens, François, Lecointre, Claudine, Derua, Rita, Meulemans, Sandra, Slootstra, Jerry W., Waelkens, Etienne, de Zegher, Francis, Creemers, John W.M., Matthijs, Gert

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Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome von Martens, Kevin, Heulens, Inge, Meulemans, Sandra, Zaffanello, Marco, Tilstra, David, Hes, Frederik J, Rooman, Raoul, François, Inge, de Zegher, Francis, Jaeken, Jaak, Matthijs, Gert, Creemers, John W M

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Expanding the CHARGE Geno-Phenotype: A Girl with Novel CHD7 Deletion, Hypogonadotropic Hypogonadism, and Agenesis of Uterus and Ovaries von Reynaert, Nele, de Zegher, Francis, Francois, Inge, Devriendt, Koenraad, Beckers, Dominique, Casteels, Kristina

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Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis von Dodé, Catherine, Fouveaut, Corinne, Mortier, Geert, Janssens, Sandra, Bertherat, Jérôme, Mahoudeau, Jacques, Kottler, Marie-Laure, Chabrolle, Christine, Gancel, Antoine, François, Inge, Devriendt, Koen, Wolczynski, Slawomir, Pugeat, Michel, Pineiro-Garcia, Alfons, Murat, Arnaud, Bouchard, Philippe, Young, Jacques, Delpech, Marc, Hardelin, Jean-Pierre

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Clinical and Endocrine Responses to Pituitary Radiotherapy in Pediatric Cushing’s Disease: An Effective Second-Line Treatment von Storr, Helen L., Plowman, P. Nicholas, Carroll, Paul V., François, Inge, Krassas, Gerasimos E., Afshar, Farhad, Besser, G. Michael, Grossman, Ashley B., Savage, Martin O.

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Precocious pubarche, hyperinsulinism, and ovarian hyperandrogenism in girls : Relation to reduced fetal growth von IBANEZ, L, POTAU, N, FRANCOIS, I, DE ZEGHER, F

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Insulin Sensitivity Modulates the Growth Response during the First Year of High-Dose Growth Hormone Treatment in Short Prepubertal Children Born Small for Gestational Age von Gies, Inge, Thomas, Muriel, Tenoutasse, Sylvie, De Waele, Kathleen, Lebrethon, Marie-Christine, Beckers, Dominique, Francois, Inge, Maes, Marc, Rooman, Raoul, de Beaufort, Carine, Massa, Guy, De Schepper, Jean

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Expanding the CHARGE Geno-Phenotype: A Girl with Novel CHD7 Deletion, Hypogonadotropic Hypogonadism, and Agenesis of Uterus and Ovaries von Reynaert, Nele, de Zegher, Francis, Francois, Inge, Devriendt, Koenraad, Beckers, Dominique, Casteels, Kristina

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Psychosocial Functioning, Self-Perception and Body Image and Their Auxologic Correlates in Growth Hormone and Oestrogen-Treated Young Adult Women with Turner Syndrome von Lagrou, Katrien, Froidecoeur, Christelle, Verlinde, Francisca, Craen, Margaretha, De Schepper, Jean, François, Inge, Massa, Guy

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PREPL deficiency: delineation of the phenotype and development of a functional blood assay (S46.008) von Regal, Luc, Martensson, Emma, Maystadt, Isabelle, Voermans, Nicol, Lederer, Damien, Burlina, Alberto, Fita, Maria Jesus Juan, Hoogeboom, A Jeannette M, Engman, Mia Olsson, Hollemans, Tess, Schouten, Meyke, Meulemans, Sandra, Jonson, Tord, Francois, Inge, Ortega, David Gil, Kamsteeg, Erik-Jan, Creemers, John

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Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations von Denayer, Ellen, Devriendt, Koen, de Ravel, Thomy, Van Buggenhout, Griet, Smeets, Eric, Francois, Inge, Sznajer, Yves, Craen, Margarita, Leventopoulos, George, Mutesa, Léon, Vandecasseye, Willy, Massa, Guy, Kayserili, Hulya, Sciot, Raf, Fryns, Jean-Pierre, Legius, Eric

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Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape von Verdin, Hannah, Fernández-Miñán, Ana, Benito-Sanz, Sara, Janssens, Sandra, Callewaert, Bert, De Waele, Kathleen, De Schepper, Jean, Francois, Inge, Menten, Björn, Heath, Karen E, Gómez-Skarmeta, José Luis, De Baere, Elfride

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Detailed studies of growth hormone secretion in cystinosis patients von Besouw, Martine T. P., Van Dyck, Maria, Francois, Inge, Van Hoyweghen, Elke, Levtchenko, Elena N.

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