References of "Verloes, Alain"
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See detailPathogenesis of abdominal aortic aneurysm (AAA) formation.
Limet, Raymond ULg; Richelle, Betty ULg; VERLOES, Alain ULg et al

in Acta Chirurgica Belgica (1998), 98(5), 195-8

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See detailMutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type I and related diseases
Poncin, Jacques ULg; Abs, R.; Velkeniers, B. et al

in 5th Euroregional Oncology meeting - abstract book (1998)

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See detailPrenatal diagnosis of pyruvate carboxylase defiency by direct measurement of catalytic activity on chorionic villi samples
Van Coster; Janssens, S.; Misson, Jean-Paul ULg et al

in Prenatal Diagnosis (1998), 18

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See detailAspects genetiques du male 46, XX.
Marquet, F.; Beckers, Albert ULg; Verloes, Alain ULg

in Revue Médicale de Liège (1998), 53(12), 738-740

The XX males represent a proportion of 1/25 of all patients suffering of the Klinefelter syndrome. From a clinical and endocrinological point of view, they exhibit a hypogonadotropic hypogonadism ... [more ▼]

The XX males represent a proportion of 1/25 of all patients suffering of the Klinefelter syndrome. From a clinical and endocrinological point of view, they exhibit a hypogonadotropic hypogonadism. Isolated cases are rare and familial forms are exceptional. The XX males may be divided in 3 subgroups: 46, XX males with the SRY gene; 46, XX males without the SRY gene and XX/XY mosaics. [less ▲]

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See detailLe cas clinique du mois Un homme a caryotype 46,XX.
Marquet, F.; Verloes, Alain ULg; Beckers, Albert ULg

in Revue Médicale de Liège (1998), 53(9), 515-517

The XX males represent a rare expression of the Klinefelter syndrome associated with hypergonadotropic hypogonadism. Generally the patients are of small stature with normal secondary sexual male features ... [more ▼]

The XX males represent a rare expression of the Klinefelter syndrome associated with hypergonadotropic hypogonadism. Generally the patients are of small stature with normal secondary sexual male features but with small testes and constant sterility. The plasma concentrations of FSH and LH are very high in accordance with the decrease of the testicular function. From the genetic point of view, the XX males may be divided in 3 groups: 1) in 80% of cases, the XX males bear the SRY gene and exhibit a XY translation during the paternal meiosis with the presence of the SRY gene on one of the X chromosomes as a marker of the male differentiation; 2) in 10% of cases, the males are (SRY-)XX; the abnormal development is then due to other genes than the TDF, which, when mutated, can induce sexual male differentiation. The remaining 10% of cases are due to chromosomal mosaicism with more XX than XY. [less ▲]

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See detailPrivate Multiple Congenital Anomaly Syndromes May Result from Unbalanced Subtle Translocations: T(2q;4p) Explains the Lambotte Syndrome
Herens, Christian ULg; Jamar, Mauricette ULg; Alvarez Gonzalez, Maria-Luz ULg et al

in American Journal of Medical Genetics (1997), 73(2), 127-31

In 1990, Lambotte syndrome was reported as an apparently autosomal recessive multiple congenital anomaly/mental retardation (MCA/MR) syndrome observed in 4 of 12 sibs from a probably consanguineous mating ... [more ▼]

In 1990, Lambotte syndrome was reported as an apparently autosomal recessive multiple congenital anomaly/mental retardation (MCA/MR) syndrome observed in 4 of 12 sibs from a probably consanguineous mating [Verloes et al., Am J Med Genet 1990; 37:119-123]. Major manifestations included intrauterine growth retardation (IUGR), microcephaly, large soft pinnae, hypertelorism, beaked nose, and extremely severe neurologic impairment, with holoprosencephaly in one instance. After the observation of a further affected child born of one unaffected sister, in situ hybridization analysis and chromosome painting techniques demonstrated a subtle t(2;4)(q37.1; p16.2) translocation in the mother, suggesting a combination of 2q/4p trisomy/monosomy in all of the affected children of the family. Many private sporadic or recurrent MCA/MR syndromes maybe due to similar symmetric translocations, undetectable by conventional banding techniques. [less ▲]

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See detailGenetic Risk in Natural and Medically Assisted Procreation
Koulischer, Lucien ULg; Verloes, Alain ULg; Lesenfants, S. et al

in Early Pregnancy (1997), 3(3), 164-71

Current in vitro fertilization techniques (IVF) including intracytoplasmic sperm injection (ICSI), microepididymal sperm aspiration (MESA) or testicular sperm extraction (TESE) clearly prevent any ... [more ▼]

Current in vitro fertilization techniques (IVF) including intracytoplasmic sperm injection (ICSI), microepididymal sperm aspiration (MESA) or testicular sperm extraction (TESE) clearly prevent any spontaneous choice of ova or spermatozoa. According to the widely admitted concept of gamete selection, pregnancies following IVF, when compared to natural fertilization, could therefore present a higher risk of genetic anomalies. However, no increased fetal or newborn abnormalities are noticed with IVF, except perhaps for sex chromosome aneuploidies. Data from the literature support the view that the uterus is, indeed, the organ where selection mechanisms occur (when they do so), as suggested by Carr in 1971. This selection concerns mainly autosome imbalances; unbalanced conceptuses are aborted. Sex chromosome aneuploidies, apparently, are less prone to natural abortion, but their higher rate of occurrence, as reported in a few series of studies, does not seem to be associated with the IVF procedures. [less ▲]

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See detailMicrocephaly, muscular build, rhizomelia, and cataracts: Description of a possible recessive syndrome and some comments on the use of electronic databases in syndromology
Verloes, Alain ULg; Lesenfants, S.; Misson, Jean-Paul ULg et al

in American Journal of Medical Genetics (1997), 68(4), 455-60461

We report on a 7-year-old boy born of consanguineous parents with severe microcephaly (-5 SD) but borderline intelligence, juvenile cataract, muscular build, rhizomelic shortness of limbs predominantly of ... [more ▼]

We report on a 7-year-old boy born of consanguineous parents with severe microcephaly (-5 SD) but borderline intelligence, juvenile cataract, muscular build, rhizomelic shortness of limbs predominantly of femora, advanced bone age, and micropenis. This combination of signs appears unique and may represent an undescribed, possibly autosomal recessive MCA syndrome. The use of LDDB and POSSUM in the workup of such "new syndromes" is reviewed. Three search strategies are discussed: single rare sign browsing, best combinatory fit using an array of key words, and combined rare signs scan. Pitfalls in the use of such databases and the some problems raised by inconsistent/ incomplete encoding in those two popular, highly useful syndromology retrieval systems are discussed. [less ▲]

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See detailPrenatal diagnosis of pyruvate carboxylase deficiency by direct measurement of catalytic activity on chorionic villi samples
Janssens, S.; Van Coster, Rudy; Chang, J. et al

in European Journal of Pediatric Neurology (1997), 1

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See detailGenetic aspects of abdominal aortic aneurysm.
VERLOES, Alain ULg; SAKALIHASAN, Natzi ULg; Limet, Raymond ULg et al

in Annals of the New York Academy of Sciences (1996), 800

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See detailHeterogeneity of sponastrime dysplasia: Delineation of a variant form with severe mental retardation
Verloes, Alain ULg; Misson, Jean-Paul ULg; Dubru, J. M. et al

in Clinical Dysmorphology (1995), 4(3), 208-215

We report a child with short stature, osteopenia with metaphyseal striations and severe mental retardation. This child shows radiological and clinical features of SPONASTRIME dysplasia. Only three ... [more ▼]

We report a child with short stature, osteopenia with metaphyseal striations and severe mental retardation. This child shows radiological and clinical features of SPONASTRIME dysplasia. Only three sibships with this disorder have been reported. In two families, affected patients were of normal intelligence. In the third one, as well as our case, the dysplasia was complicated by severe mental retardation of unknown origin. The severity of the retardation in our case and a previous report, and some difference in the gestalt and radiological aspects, suggest that SPONASTRIME dysplasia is a heterogeneous disorder. We provisionally propose to split SPONASTRIME dysplasia in two phenotypically distinct subgroups, and to delineate here a 'new' variant with microcephaly and severe mental impairment. [less ▲]

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See detailA Prenatal Trisomy 21 Screening Program Using Alpha-Fetoprotein, Human Chorionic Gonadotropin, and Free Estriol Assays on Maternal Dried Blood
Verloes, Alain ULg; Schoos, Roland ULg; Herens, Christian ULg et al

in American Journal of Obstetrics and Gynecology (1995), 172(1, Pt 1), 167-74

OBJECTIVE: The feasibility of large-scale Down syndrome maternal screening with dried blood samples and nonradioactive methods was examined. STUDY DESIGN: A prospective observation study was performed on ... [more ▼]

OBJECTIVE: The feasibility of large-scale Down syndrome maternal screening with dried blood samples and nonradioactive methods was examined. STUDY DESIGN: A prospective observation study was performed on a nonselected population of 11,241 pregnant women sampled between January 1991 and September 1992, between 14 and 24 weeks' gestation (ultrasonographic scanning available for 91.6%), through a multicenter collaborative network. Enzyme-linked immunosorbent assays for alpha-fetoprotein, human chorionic gonadotropin, and free estriol were performed on dried blood samples. Risk determination was made with an in-house software implementing the multivariate gaussian log likelihood method. RESULTS: A total of 10,450 samples were eligible for the study. Mean age at term was 27.9 years. A total of 6.84% of the patients were > or = 35 years old with a prior risk of trisomy 21 > 1:350. The general positive rate of our sample was 8.15%. After calculation 31.7% with prior risk > 1:350 were still in the high-risk group; 6.36% of the low-risk group were found to be at high risk for Down syndrome. Fifteen trisomic pregnancies were observed, of which 11 had a calculated risk higher than the selected cutoff value (1:350). The overall detection rate was 73%, specificity was 92%, and positive predictive power was 1.2%. CONCLUSION: Our pilot study has shown performances within the range of conventional serum screening programs. Dried blood assays are a handy alternative to serum assays. Blot paper cards represent a simple method of sampling, well fitted for large population screening. Combined with nonradioactive methods, this method appears to be both low cost and effective. The current work apparently is the first large-scale Down screening program performed with dried blood. [less ▲]

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See detailAneurysms of the abdominal aorta: familial and genetic aspects in three hundred thirteen pedigrees.
VERLOES, Alain ULg; SAKALIHASAN, Natzi ULg; Koulischer, Lucien ULg et al

in Journal of Vascular Surgery (1995), 21(4), 646-55

PURPOSE: Familial clustering of abdominal aortic aneurysm was first noticed in 1977. METHODS: Through questionnaire and phone inquiry, familial data on 324 probands with abdominal aortic aneurysms allowed ... [more ▼]

PURPOSE: Familial clustering of abdominal aortic aneurysm was first noticed in 1977. METHODS: Through questionnaire and phone inquiry, familial data on 324 probands with abdominal aortic aneurysms allowed the establishment of 313 multigenerational pedigrees including 39 with multiple affected patients. RESULTS: There were 276 sporadic cases (264 men, 12 women); 81 cases belonged to multiplex pedigrees (76 men; 5 women). We compared familial and sporadic male cases; the ages at diagnosis were 64.1 +/- 7.9 years and 66.0 +/- 7.3 years (p < 0.05), respectively, the ages at rupture were 65.4 +/- 6.6 years and 75.2 +/- 8.6 years (p < 0.001), and the rupture rate was 32.4% and 8.7% (p < 0.001). Survival curves were computed. Relative risk for male siblings of a male patient was 18. We performed a segregation analysis with the mixed model, the most likely explanation for occurrence of abdominal aortic aneurysm in our families was a single gene effect showing dominant inheritance. The frequency of the morbid allele was 1:250, and its age-related penetrance was not higher than 0.4. CONCLUSION: This analysis indicates the preeminence of genetic factors on multifactorial/environmental effects of the pathogenesis of abdominal aortic aneurysm. [less ▲]

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See detailCaractéristiques neuroradiologiques du déficit en Pyruvate Carboxylase
Misson, Jean-Paul ULg; Lombet, J.; Rigo, Jacques ULg et al

in Société Européenne de Neurologie Pédiatrique (1995)

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See detailFamilial aspects in acromegaly
Verloes, Alain ULg; Beckers, Albert ULg; Pétrossians, E. et al

in 26th Annual meeting of European society of Human Genetics. Abstract book (1994)

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See detailMonosomy 11q: Report of Two Familial Cases and Review of the Literature
Hustinx, Roland ULg; Verloes, Alain ULg; Grattagliano, B. et al

in American Journal of Medical Genetics (1993), 47(3), 312-7

We present four children from two families with the typical 11q- phenotype resulting from an unbalanced segregation of a parental translocation. In the first family, the father had a 46,XY,t(5;11)(q24;q23 ... [more ▼]

We present four children from two families with the typical 11q- phenotype resulting from an unbalanced segregation of a parental translocation. In the first family, the father had a 46,XY,t(5;11)(q24;q23.3) constitution. The father of the three other children had a 46,XY,t(11;17)(q23;p13) translocation. Despite associated partial deletion, three of the children had a typical 11q- phenotype. The fourth one, whose pregnancy was terminated in the second trimester, had a hypoplastic left heart but no other considered gross anomalies. A review of 36 previous cases, including 5 due to translocations (4 familial rearrangements, and 1 of unknown origin) is given with emphasis on the relationships between break-points and phenotype. Undescribed manifestations in our patients include agenesis of corpus callosum adactyly and malrotation of the gut. [less ▲]

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See detailHeterogeneity versus variability in Neuhauser megalocornea-mental retardation (MMR) syndromes: Report of new cases and delineation of 4 probable types
Verloes, Alain ULg; Journel, H.; Elmer, C. et al

in American Journal of Medical Genetics (1993), 46(2), 132-137

Megalocornea (corneal diameter > or = 13 mm) is associated with mental and neurological impairment, and minor anomalies in Neuhauser syndrome (megalocornea-mental retardation syndrome). Here we report 4 ... [more ▼]

Megalocornea (corneal diameter > or = 13 mm) is associated with mental and neurological impairment, and minor anomalies in Neuhauser syndrome (megalocornea-mental retardation syndrome). Here we report 4 new cases of megalocornea and mental retardation. Those unrelated patients have a consistent pattern of anomalies with possible recessive inheritance which clearly differs from that of the original patients of Neuhauser et al. [1975]. We discuss the heterogeneity of the syndromes with megalocornea and mental retardation. Based on these cases and on a review of the literature, we suggest a provisional clinically oriented classification in 5 subtypes: (1) a recessive form type Neuhauser (with iris hypoplasia and minor anomalies), (2) a recessive form type Frank-Temtamy (with camptodactyly, scoliosis and growth retardation), (3) a recessive type 3, including our 4 personal cases (with normal irides, severe hypotonia, relative or absolute macrocephaly and minor anomalies), (4) a possible Frydman type (with normal irides, megalencephaly and obesity), and (5) provisionally unclassifiable cases. [less ▲]

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See detailBrachymorphism-Onychodysplasia-Dysphalangism Syndrome
Verloes, Alain ULg; Bonneau, D.; Guidi, O. et al

in Journal of Medical Genetics (1993), 30(2), 158-61

Three unrelated children are reported with intrauterine proportionate growth retardation and facial dysmorphism (broad nose, flat malar area, large mouth, pointed chin), microcephaly, hypo/aplasia of the ... [more ▼]

Three unrelated children are reported with intrauterine proportionate growth retardation and facial dysmorphism (broad nose, flat malar area, large mouth, pointed chin), microcephaly, hypo/aplasia of the terminal fifth digits, and (sub)normal intelligence. Radiological findings include hypo/aplasia or fusion of the distal phalanges of the fifth finger and toe, brachymesophalangism V, and nail dysplasia or aplasia. One child had cystic adenomatoid disease of the lung. The pattern of anomalies presented by these children closely resembles a syndrome incompletely delineated in 1971 by Senior in six children, which has often been considered to be a mild form of Coffin-Siris syndrome. We suggest that this is an independent entity (BOD syndrome). The aetiology is still unknown. Differential diagnosis and nosological difficulties are discussed. [less ▲]

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See detailSyndrome oculo-cérébro-cutané de Delleman
Leroy, P.; Verloes, Alain ULg; Born, J. et al

in 30ème Congrès de l'Association des Pédiatres de Langue Française (1993)

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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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