References of "Misson, Jean-Paul"
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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 detailEpilepsies rebelles de l'enfant: définition et modalités de prise en charge hospitalière
Leroy, Patricia; Dubru, Jean-Marie ULg; Misson, Jean-Paul ULg

in Neurone (1997), 2(8), 285-288

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See detailLes convulsions fébriles: attitude actuelle
Misson, Jean-Paul ULg; Leroy, Patricia; Dubru, Jean-Marie ULg

in Tempo Médical (1996)

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See detailIdentification of antigens recognized in the developing mouse brain by the RC2 antibody, a marker of radial glia
Leprince, Pierre ULg; Chanas-Sacre, G.; Wattiez, R. et al

in International Journal of Developmental Neuroscience (1996), 14(Sup. 1), 84

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See detailRetard neuromoteur et neuropsychologique: critères de recours à une prise en charge spécialisée
Misson, Jean-Paul ULg; Dubru, Jean-Marie ULg; Leroy, Patricia et al

in Percentile (1996), .(3), 103-107

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See detailReconnaissance des malformations et pathologies prénatales du système nerveux central
Misson, Jean-Paul ULg; Dubru, Jean-Marie ULg; Leroy, Patricia

in Acta Paediatrica Belgica (1996), 28(3), 204-215

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See detailCaractéristiques des lésions résultant d'une pathologie périnatale
Dubru, Jean-Marie ULg; Leroy, Patricia; Misson, Jean-Paul ULg

in Acta Paediatrica Belgica (1996), 28(3), 203-204

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See detailImages liées à la pathologie traumatique du système nerveux central
Leroy, Patricia; Dubru, Jean-Marie ULg; Misson, Jean-Paul ULg

in Acta Paediatrica Belgica (1996), 28(3), 216

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See detailLa Biologie clinique en pédiatrie: hypotonie et retard moteur
Misson, Jean-Paul ULg; Leroy, Patricia; Dubru, Jean-Marie ULg et al

in Acta Paediatrica Belgica (1996), 28(2), 95

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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 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 detailMéningiome volumineux chez l'enfant: discussion à propos d'un cas chez une fillette de 5 ans
Misson, Jean-Paul ULg; Dacier, Ph; Leroy, P. et al

in Société Belge de Neurologie Pédiatrique (1995)

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See detailCentral neuroblastoma in a 14 year-old girl
Hoyoux, Cl; Dresse, Marie-Françoise ULg; Misson, Jean-Paul ULg et al

in 4th International Symposium on Neuroblastoma Screening (1995)

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See detailGliomatose méningée cérébro-spinale diffuse chez un enfant traité par hormone de croissance dans le cadre d!un syndrome de Turner
Dacier, Ph; Leroy, P.; Ernould, Ch et al

in Société Belge de Neurologie Pédiatrique (1995)

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See detailLambdoid synostosis - pachycephaly: diagnosis and treatment
Misson, Jean-Paul ULg; Born, Jacques; Collignon, L. et al

in Developmental Medicine and Child Neurology. Supplement (1995), 37(3), 87

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See detailLeber-associateddystonia with putamen necrosis
Van Coster, R.; Misson, Jean-Paul ULg; Meire, F. et al

in Annals of Neurology (1994)

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See detailSponastrime dysplasia with mental retardation: A distinct entity
Verloes, A.; Misson, Jean-Paul ULg; Dubru, Jean-Marie ULg et al

in 3ème Dysmorphology Meeting (1994)

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See detailEffet préventif du Sabril dans un cas présymtomatique de maladie de Bourneville
Leroy, P.; Bakri, A.; Dubru, Jean-Marie ULg et al

in Société Belge de Neurologie Pédiatrique (1994)

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