References of "Gillerot, Y"
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See detailMutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome.
Kelley, B. P.; Malfait, F.; Bonafe, L. et al

in Journal of Bone and Mineral Research (2011)

Osteogenesis imperfecta (OI) is a genetic disorder of connective tissue characterized by bone fragility and alteration in synthesis and post-translational modification of type I collagen. Autosomal ... [more ▼]

Osteogenesis imperfecta (OI) is a genetic disorder of connective tissue characterized by bone fragility and alteration in synthesis and post-translational modification of type I collagen. Autosomal dominant OI is caused by mutations in the genes (COL1A1 or COL1A2) encoding the chains of type I collagen. Bruck syndrome is a recessive disorder featuring congenital contractures in addition to bone fragility; Bruck syndrome type 2 is caused by mutations in PLOD2 encoding collagen lysyl hydroxylase, while Bruck Syndrome type 1 has been mapped to 17q12 but the gene has remained elusive so far. Recently, the molecular spectrum of OI has been expanded with the description of the basis of a unique post-translational modification of type I procollagen, i.e. 3-prolyl-hydroxylation. Three proteins, cartilage-associated protein (CRTAP), prolyl-3-hydroxylase-1 (P3H1, encoded by the LEPRE1 gene), and the prolyl cis-trans isomerase cyclophilin-B (PPIB) form a complex that is required for fibrillar collagen 3-prolyl-hydroxylation and mutations in each gene have been shown to cause recessive forms of OI. Since then, an additional putative collagen chaperone complex, composed of FKBP10 (also known as FKBP65) and SERPINH1 (also known as HSP47), has also been shown to be mutated in recessive OI. Here, we describe five families with OI-like bone fragility in association with congenital contractures who all had FKBP10 mutations. Given the previous mapping of Bruck syndrome type 1 to the chromosomal region containing FKBP10, we conclude that FKBP10 mutations are the cause of Bruck syndrome type 1. (c) 2010 American Society for Bone and Mineral Research. [less ▲]

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See detailIRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.
Desmyter, L.; Ghassibe, M.; Revencu, N. et al

in Molecular Syndromology (2010), 1(2), 67-74

Van der Woude syndrome (VWS), caused by dominant IRF6 mutation, is the most common cleft syndrome. In 15% of the patients, lip pits are absent and the phenotype mimics isolated clefts. Therefore, we ... [more ▼]

Van der Woude syndrome (VWS), caused by dominant IRF6 mutation, is the most common cleft syndrome. In 15% of the patients, lip pits are absent and the phenotype mimics isolated clefts. Therefore, we hypothesized that some of the families classified as having non-syndromic inherited cleft lip and palate could have an IRF6 mutation. We screened in total 170 patients with cleft lip with or without cleft palate (CL/P): 75 were syndromic and 95 were a priori part of multiplex non-syndromic families. A mutation was identified in 62.7 and 3.3% of the patients, respectively. In one of the 95 a priori non-syndromic families with an autosomal dominant inheritance (family B), new insights into the family history revealed the presence, at birth, of lower lip pits in two members and the diagnosis was revised as VWS. A novel lower lip sign was observed in one individual in this family. Interestingly, a similar lower lip sign was also observed in one individual from a 2nd family (family A). This consists of 2 nodules below the lower lip on the external side. In a 3rd multiplex family (family C), a de novo mutation was identified in an a priori non-syndromic CL/P patient. Re-examination after mutation screening revealed the presence of a tiny pit-looking lesion on the inner side of the lower lip leading to a revised diagnosis of VWS. On the basis of this data, we conclude that IRF6 should be screened when any doubt rises about the normality of the lower lip and also if a non-syndromic cleft lip patient (with or without cleft palate) has a family history suggestive of autosomal dominant inheritance. [less ▲]

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See detailMajor Decrease in the Incidence of Trisomy 21 at Birth in South Belgium: Mass Impact of Triple Test?
Verloes, Alain ULg; Gillerot, Y.; Van Maldergem, Lionel ULg et al

in European Journal of Human Genetics (2001), 9(1), 1-4

In South Belgium (Wallonia), the 'triple test' was introduced in 1990-1991, and is nowadays a widely accepted screening method for assessment of trisomy 21 risk in pregnancy. The 'triple test' is not ... [more ▼]

In South Belgium (Wallonia), the 'triple test' was introduced in 1990-1991, and is nowadays a widely accepted screening method for assessment of trisomy 21 risk in pregnancy. The 'triple test' is not regulated and can be freely performed by any biomedical lab, making epidemiological data unavailable. By contrast, cytogenetic investigations are limited to a few genetic centres, and accurate statistics can be easily built from their files. During the period 1984-1989, a total of 244 trisomy 21 (1/876 pregnancies) were diagnosed in the Genetic Centres of Liege and Loverval, 42 (17%) of them prenatally. During the period 1993-1998, 294 trisomy 21 (1/704 pregnancies) were observed, 165 (56%) of which prenatally, and more than 90% of affected pregnancies were terminated. Even after correction for late foetal loss of trisomic foetuses, the difference is highly significant, and corresponds to a theoretical shift in the incidence of trisomy 21 at birth from 1/794 to 1/1606. As no remarkable progress occurred in other non-invasive prenatal screening procedures or general health care policies in Belgium, the most reasonable explanation is the use on a large scale of triple test by pregnant women, and the election of termination for most affected pregnancies. [less ▲]

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See detailAcromelic Frontonasal "Dysplasia": Further Delineation of a Subtype with Brain Malformation and Polydactyly (Toriello Syndrome)
Verloes, Alain ULg; Gillerot, Y.; Walczak, E. et al

in American Journal of Medical Genetics (1992), 42(2), 180-3

We report on a stillborn boy with frontonasal malformation (Sedano-Jirasek type D-DeMyer type I), associated with encephalocoele, occipital meningocele and preaxial polydactyly of the feet. This form of ... [more ▼]

We report on a stillborn boy with frontonasal malformation (Sedano-Jirasek type D-DeMyer type I), associated with encephalocoele, occipital meningocele and preaxial polydactyly of the feet. This form of frontonasal dysplasia was documented previously in a few other cases with various combinations of postaxial polydactyly, tibial hypoplasia, epibulbar dermoid, occipital encephalocoele, corpus callosum agenesis and Dandy-Walker malformation. Most cases are sporadic. [less ▲]

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See detailMental Retardation with Blepharo-Naso-Facial Abnormalities and Hand Malformations: A New Syndrome?
Van Maldergem, Lionel ULg; Wetzburger, C.; Verloes, Alain ULg et al

in Clinical Genetics (1992), 41(1), 22-4

A syndrome involving facial abnormalities (telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears), malformed extremities (camptodactyly, clinodactyly ... [more ▼]

A syndrome involving facial abnormalities (telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears), malformed extremities (camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity) and mental retardation is described in a girl at birth and at 11 years old. A comparison with Pashayan-Pruzansky syndrome, fetal alcohol syndrome, VATER association, Marden-Walker syndrome and Tel-Hashomer syndrome is discussed. We suggest this patient represents a new malformation syndrome or an extreme phenotypic variant of one of the above-mentioned syndromes. [less ▲]

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See detailCombined 10pter-->P11 and 18pter-->Q11 Trisomy in a 7-Year-Old Child
Lapiere, J. C.; Verloes, Alain ULg; Herens, Christian ULg et al

in Genetic Counseling (Geneva, Switzerland) (1992), 3(3), 155-9

We report a severely mentally retarded, dysmorphic girl aged 7 years with a 47,XX, +der(18), t(10;18)(p11.2;q11.2)mat. The phenotype of our patient is compared with 6 cases of trisomy 10p and 10 cases of ... [more ▼]

We report a severely mentally retarded, dysmorphic girl aged 7 years with a 47,XX, +der(18), t(10;18)(p11.2;q11.2)mat. The phenotype of our patient is compared with 6 cases of trisomy 10p and 10 cases of trisomy 18q- from the literature. The short trisomic segment 10pter-10p11 appears to affect more the phenotype than the trisomic segment 18qter-q11. [less ▲]

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See detailLes malformations congénitales dans un service de néonatologie.
Battisti, Oreste ULg; Gillerot, Y.; Bachy, A. et al

in Louvain Medical (1985), 104

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