Publications by authors named "Inge Francois"

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PREPL deficiency: delineation of the phenotype and development of a functional blood assay.
Luc Régal, Emma Mårtensson, Isabelle Maystadt, Nicol Voermans, Damien Lederer

Genet Med· January 2018

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

Horm Res Paediatr· April 2017

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Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape.
Hannah Verdin, Ana Fernández-Miñán, Sara Benito-Sanz, Sandra Janssens, Bert Callewaert

Sci Rep· December 2015

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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 shedding.
Glynis Frans, Leen Moens, Heidi Schaballie, Lien Van Eyck, Heleen Borgers

J Allergy Clin Immunol· November 2014

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Cardiovascular pathology in males and females with 45,X/46,XY mosaicism.
Katya De Groote, Martine Cools, Jean De Schepper, Margarita Craen, Inge François

PLoS One· August 2013

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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.
Inge Gies, Muriel Thomas, Sylvie Tenoutasse, Kathleen De Waele, Marie-Christine Lebrethon, Inge Francois

Horm Res Paediatr· January 2013

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

Pediatr Nephrol· November 2012

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Two novel deletions in hypotonia-cystinuria syndrome.
Luc Régal, Halil Ibrahim Aydin, Anne-Marie Dieltjens, Hilde Van Esch, Inge Francois

Mol Genet Metab· November 2012

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Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction.
Benedetta Izzi, Inge Francois, Veerle Labarque, Chantal Thys, Christine Wittevrongel

PLoS One· October 2012

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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.
Benedetta Izzi, Francis de Zegher, Inge Francois, Jurgen del Favero, Dirk Goossens

J Hum Genet· April 2012

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Has the prevalence of congenital abnormalities after intracytoplasmic sperm injection increased? The Leuven data 1994-2000 and a review of the literature.
An Hindryckx, Karen Peeraer, Sophie Debrock, Eric Legius, Francis de Zegher, Inge Francois

Gynecol Obstet Invest· November 2010

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Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.
Ellen Denayer, Koen Devriendt, Thomy de Ravel, Griet Van Buggenhout, Eric Smeets, Inge Francois

Genes Chromosomes Cancer· March 2010

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Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome.
Kevin Martens, Inge Heulens, Sandra Meulemans, Marco Zaffanello, David Tilstra

Eur J Hum Genet· October 2007

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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.
Catherine Dodé, Corinne Fouveaut, Geert Mortier, Sandra Janssens, Jérôme Bertherat

Hum Mutat· January 2007

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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.
Katrien Lagrou, Christelle Froidecoeur, Francisca Verlinde, Margaretha Craen, Jean De Schepper

Horm Res· December 2006

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Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome.
Jaak Jaeken, Kevin Martens, Inge Francois, Francois Eyskens, Claudine Lecointre

Am J Hum Genet· January 2006

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Clinical and endocrine responses to pituitary radiotherapy in pediatric Cushing's disease: an effective second-line treatment.
Helen L Storr, P Nicholas Plowman, Paul V Carroll, Inge François, Gerasimos E Krassas

J Clin Endocrinol Metab· January 2003

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