Inge Francois
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Explore the profile of Inge Francois including associated specialties, affiliations and a list of published articles.
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17
Citations
266
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Recent Articles
1.
Regal L, Martensson E, Maystadt I, Voermans N, Lederer D, Burlina A, et al.
Genet Med
. 2017 Jul;
20(1):109-118.
PMID: 28726805
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 of SLC3A1...
2.
Reynaert N, de Zegher F, Francois I, Devriendt K, Beckers D, Casteels K
Horm Res Paediatr
. 2016 Jan;
85(4):288-90.
PMID: 26741373
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...
3.
Verdin H, Fernandez-Minan A, Benito-Sanz S, Janssens S, Callewaert B, De Waele K, et al.
Sci Rep
. 2015 Dec;
5:17667.
PMID: 26631348
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...
4.
Frans G, Moens L, Schaballie H, Van Eyck L, Borgers H, Wuyts M, et al.
J Allergy Clin Immunol
. 2014 Jul;
134(5):1209-13.e6.
PMID: 25042743
No abstract available.
5.
De Groote K, Cools M, De Schepper J, Craen M, Francois I, Devos D, et al.
PLoS One
. 2013 Mar;
8(2):e54977.
PMID: 23457457
Context: The phenotype of 45,X/46,XY mosaicism is heterogeneous ranging from females with Turner syndrome (TS) to apparently normal males. Males with 45,X/46,XY frequently show stigmata typically associated with TS. We...
6.
Gies I, Thomas M, Tenoutasse S, De Waele K, Lebrethon M, Beckers D, et al.
Horm Res Paediatr
. 2012 Jul;
78(1):24-30.
PMID: 22832126
Aim: To study the relationship between insulin sensitivity and growth response in short children born small for gestational age (SGA) treated with growth hormone (GH). Methods: Randomized, open-label, 24-month intervention...
7.
Regal L, Aydin H, Dieltjens A, Van Esch H, Francois I, Okur I, et al.
Mol Genet Metab
. 2012 Jul;
107(3):614-6.
PMID: 22796000
Hypotonia-cystinuria syndrome (HCS) is an autosomal recessive disorder caused by combined deletions of SLC3A1 and PREPL. Clinical features include cystinuria, neonatal hypotonia with spontaneous improvement, poor feeding in neonates, hyperphagia...
8.
Izzi B, Francois I, Labarque V, Thys C, Wittevrongel C, Devriendt K, et al.
PLoS One
. 2012 Jun;
7(6):e38579.
PMID: 22679513
Background: 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...
9.
Besouw M, Van Dyck M, Francois I, Van Hoyweghen E, Levtchenko E
Pediatr Nephrol
. 2012 Jun;
27(11):2123-2127.
PMID: 22664570
Background: 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...
10.
Izzi B, de Zegher F, Francois I, Del Favero J, Goossens D, Wittevrongel C, et al.
J Hum Genet
. 2012 Jan;
57(4):277-9.
PMID: 22277900
Albright's hereditary osteodystrophy (AHO) is characterized by short stature, round face, calcifications, obesity, brachydactyly and intellectual disability. AHO without hormone resistance is called pseudopseudohypoparathyroidism (PPHP), a rare clinical condition difficult...