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27 results on '"Mugneret, F"'

1. Xq28 duplication includingMECP2in six unreported affected females: what can we learn for diagnosis and genetic counselling?

Author

El Chehadeh, S., primary, Touraine, R., additional, Prieur, F., additional, Reardon, W., additional, Bienvenu, T., additional, Chantot-Bastaraud, S., additional, Doco-Fenzy, M., additional, Landais, E., additional, Philippe, C., additional, Marle, N., additional, Callier, P., additional, Mosca-Boidron, A.-L., additional, Mugneret, F., additional, Le Meur, N., additional, Goldenberg, A., additional, Guerrot, A.-M., additional, Chambon, P., additional, Satre, V., additional, Coutton, C., additional, Jouk, P.-S., additional, Devillard, F., additional, Dieterich, K., additional, Afenjar, A., additional, Burglen, L., additional, Moutard, M.-L., additional, Addor, M.-C., additional, Lebon, S., additional, Martinet, D., additional, Alessandri, J.-L., additional, Doray, B., additional, Miguet, M., additional, Devys, D., additional, Saugier-Veber, P., additional, Drunat, S., additional, Aral, B., additional, Kremer, V., additional, Rondeau, S., additional, Tabet, A.-C., additional, Thevenon, J., additional, Thauvin-Robinet, C., additional, Perreton, N., additional, Des Portes, V., additional, and Faivre, L., additional

Published
2017
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2. Pregnancy outcomes of prenatally diagnosed Turner syndrome: a French multicenter retrospective study including a series of 975 cases

Author

Gruchy, N., primary, Vialard, F., additional, Blondeel, E., additional, Le Meur, N., additional, Joly-Hélas, G., additional, Chambon, P., additional, Till, M., additional, Herbaut-Graux, M., additional, Vigouroux-Castera, A., additional, Coussement, A., additional, Lespinasse, J., additional, Amblard, F., additional, Jimenez, M., additional, Lebel Roy Camille, L., additional, Carré-Pigeon, F., additional, Flori, E., additional, Mugneret, F., additional, Jaillard, S., additional, Yardin, C., additional, Harbuz, R., additional, Collonge Rame, M., additional, Vago, P., additional, Valduga, M., additional, and Leporrier, N., additional

Published
2014
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3. A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes

Author

Besseau-Ayasse, J., primary, Violle-Poirsier, C., additional, Bazin, A., additional, Gruchy, N., additional, Moncla, A., additional, Girard, F., additional, Till, M., additional, Mugneret, F., additional, Coussement, A., additional, Pelluard, F., additional, Jimenez, M., additional, Vago, P., additional, Portnoï, M. F., additional, Dupont, C., additional, Beneteau, C., additional, Amblard, F., additional, Valduga, M., additional, Bresson, J. L., additional, Carré-Pigeon, F., additional, Le Meur, N., additional, Tapia, S., additional, Yardin, C., additional, Receveur, A., additional, Lespinasse, J., additional, Pipiras, E., additional, Beaujard, M. P., additional, Teboul, P., additional, Brisset, S., additional, Catty, M., additional, Nowak, E., additional, Douet Guilbert, N., additional, Lallaoui, H., additional, Bouquillon, S., additional, Gatinois, V., additional, Joly-Helas, G., additional, Prieur, F., additional, Cartault, F., additional, Martin, D., additional, Kleinfinger, P., additional, Molina Gomes, D., additional, Doco-Fenzy, M., additional, and Vialard, F., additional

Published
2014
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4. Molecular characterization of 39 de novo sSMC : contribution to prognosis and genetic counselling, a prospective study

Author

Marle, N., primary, Martinet, D., additional, Aboura, A., additional, Joly‐Helas, G., additional, Andrieux, J., additional, Flori, E., additional, Puechberty, J., additional, Vialard, F., additional, Sanlaville, D., additional, Fert Ferrer, S., additional, Bourrouillou, G., additional, Tabet, A.C., additional, Quilichini, B., additional, Simon‐Bouy, B., additional, Bazin, A., additional, Becker, M., additional, Stora, H., additional, Amblard, S., additional, Doco‐Fenzy, M., additional, Molina Gomes, D., additional, Girard‐Lemaire, F., additional, Cordier, M.P., additional, Satre, V., additional, Schneider, A., additional, Lemeur, N., additional, Chambon, P., additional, Jacquemont, S., additional, Fellmann, F., additional, Vigouroux‐Castera, A., additional, Molignier, R., additional, Delaye, A., additional, Pipiras, E., additional, Liquier, A., additional, Rousseau, T., additional, Mosca, A.L., additional, Kremer, V., additional, Payet, M., additional, Rangon, C., additional, Mugneret, F., additional, Aho, S., additional, Faivre, L., additional, and Callier, P., additional

Published
2013
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5. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

Author

Callier, P, primary, Aral, B, additional, Hanna, N, additional, Lambert, S, additional, Dindy, H, additional, Ragon, C, additional, Payet, M, additional, Collod-Beroud, G, additional, Carmignac, V, additional, Delrue, MA, additional, Goizet, C, additional, Philip, N, additional, Busa, T, additional, Dulac, Y, additional, Missotte, I, additional, Sznajer, Y, additional, Toutain, A, additional, Francannet, C, additional, Megarbane, A, additional, Julia, S, additional, Edouard, T, additional, Sarda, P, additional, Amiel, J, additional, Lyonnet, S, additional, Cormier-Daire, V, additional, Gilbert, B, additional, Jacquette, A, additional, Heron, D, additional, Collignon, P, additional, Lacombe, D, additional, Morice-Picard, F, additional, Jouk, PS, additional, Cusin, V, additional, Willems, M, additional, Sarrazin, E, additional, Amarof, K, additional, Coubes, C, additional, Addor, MC, additional, Journel, H, additional, Colin, E, additional, Khau Van Kien, P, additional, Baumann, C, additional, Leheup, B, additional, Martin- Coignard, D, additional, Doco-Fenzy, M, additional, Goldenberg, A, additional, Plessis, G, additional, Thevenon, J, additional, Pasquier, L, additional, Odent, S, additional, Vabres, P, additional, Huet, F, additional, Marle, N, additional, Mosca- Boidron, AL, additional, Mugneret, F, additional, Gauthier, S, additional, Binquet, C, additional, Thauvin-Robinet, C, additional, Jondeau, G, additional, Boileau, C, additional, and Faivre, L, additional

Published
2013
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6. What can we learn from old microdeletion syndromes using array-CGH screening?

Author

Mosca-Boidron, A L, primary, Bouquillon, S, additional, Faivre, L, additional, Callier, P, additional, Andrieux, J, additional, Marle, N, additional, Bonnet, C, additional, Vincent-Delorme, C, additional, Berri, M, additional, Plessis, G, additional, Manouvrier-Hanu, S, additional, Dieux-Coeslier, A, additional, Thauvin-Robinet, C, additional, Pipiras, E, additional, Delahaye, A, additional, Payet, M, additional, Ragon, C, additional, Masurel-Paulet, A, additional, Questiaux, E, additional, Benzacken, B, additional, Jonveaux, P, additional, Mugneret, F, additional, and Holder-Espinasse, M, additional

Published
2011
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7. A prenatal case of inverted duplication with terminal deletion of 5p not including the cat-like cry critical region

Author

Mosca, A.L., primary, Callier, P., additional, Faivre, L., additional, Laurent, N., additional, Rousseau, T., additional, Marle, N., additional, Payet, M., additional, Guy, H., additional, Couvreur, S., additional, Masurel-Paulet, A., additional, Sagot, P., additional, Thauvin-Robinet, C., additional, and Mugneret, F., additional

Published
2011
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8. Refining the critical region for congenital diaphragmatic hernia on chromosome 15q26 from the study of four fetuses

Author

Mosca, A. L., primary, Pinson, L., additional, Andrieux, J., additional, Copin, H., additional, Bigi, N., additional, Puechberty, J., additional, Sarda, P., additional, Receveur, A., additional, Sevestre, H., additional, Pigeonnat, S., additional, Marle, N., additional, Payet, M., additional, Ragon, C., additional, Rousseau, T., additional, Thauvin‐Robinet, C., additional, Masurel‐Paulet, A., additional, Schneider, A., additional, Laurent, N., additional, Sagot, P., additional, Mugneret, F., additional, Lefort, G., additional, Faivre, L., additional, and Callier, P., additional

Published
2011
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9. Cytogenetic and array-CGH characterization of a 6q27 deletion in a patient with developmental delay and features of Ehlers-Danlos syndrome

Author

Mosca, A.L., primary, Callier, P., additional, Masurel-Paulet, A., additional, Thauvin-Robinet, C., additional, Marle, N., additional, Nouchy, M., additional, Huet, F., additional, Dipanda, D., additional, De Paepe, A., additional, Coucke, P., additional, Mugneret, F., additional, and Faivre, L., additional

Published
2010
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10. Delineation of 15q13.3 microdeletions

Author

Masurel-Paulet, A, primary, Andrieux, J, additional, Callier, P, additional, Cuisset, JM, additional, Le Caignec, C, additional, Holder, M, additional, Thauvin-Robinet, C, additional, Doray, B, additional, Flori, E, additional, Alex-Cordier, MP, additional, Beri, M, additional, Boute, O, additional, Delobel, B, additional, Dieux, A, additional, Vallee, L, additional, Jaillard, S, additional, Odent, S, additional, Isidor, B, additional, Beneteau, C, additional, Vigneron, J, additional, Bilan, F, additional, Gilbert-Dussardier, B, additional, Dubourg, C, additional, Labalme, A, additional, Bidon, C, additional, Gautier, A, additional, Pernes, P, additional, Pinoit, JM, additional, Huet, F, additional, Mugneret, F, additional, Aral, B, additional, Jonveaux, P, additional, Sanlaville, D, additional, and Faivre, L, additional

Published
2010
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13. Detection of an interstitial 3q21.1-q21.3 deletion in a child with multiple congenital abnormalities, mental retardation, pancytopenia, and myelodysplasia

Author

Callier, P., primary, Faivre, L., additional, Marle, N., additional, Thauvin-Robinet, C., additional, Guy, J., additional, Mosca, A.L., additional, D'Athis, P., additional, Masurel-Paulet, A., additional, Assous, D., additional, Teyssier, J.R., additional, Huet, F., additional, and Mugneret, F., additional

Published
2009
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14. Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplication

Author

Mosca, A.L., primary, Callier, P., additional, Faivre, L., additional, Marle, N., additional, Mejean, N., additional, Thauvin‐Robinet, C., additional, Masurel‐Paulet, A., additional, Madinier, N., additional, Durand, C., additional, Couillaud, G., additional, Ragot, S., additional, Huet, F., additional, Teyssier, J.R., additional, and Mugneret, F., additional

Published
2009
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15. Array‐CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2‐p31.1 deletion in a patient with features overlapping the Goldenhar syndrome

Author

Callier, P., primary, Faivre, L., additional, Thauvin‐Robinet, C., additional, Marle, N., additional, Mosca, A.L., additional, D'Athis, P., additional, Guy, J., additional, Masurel‐Paulet, A., additional, Joly, L., additional, Guiraud, S., additional, Teyssier, J.R., additional, Huet, F., additional, and Mugneret, F., additional

Published
2008
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22. Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study.

Author

Gruchy N, Blondeel E, Le Meur N, Joly-Hélas G, Chambon P, Till M, Herbaux M, Vigouroux-Castera A, Coussement A, Lespinasse J, Amblard F, Jimenez Pocquet M, Lebel-Roy C, Carré-Pigeon F, Flori E, Mugneret F, Jaillard S, Yardin C, Harbuz R, Collonge-Rame MA, Vago P, Valduga M, Leporrier N, and Vialard F

Subjects
Abortion, Induced trends, Adult, Amniocentesis, Chorionic Villi Sampling, Chromosomes, Human, X, Cohort Studies, Female, Fetal Death, France epidemiology, Humans, Maternal Age, Pregnancy, Prenatal Diagnosis, Retrospective Studies, Sex Chromosome Aberrations, Sex Chromosome Disorders diagnosis, Sex Chromosome Disorders diagnostic imaging, Sex Chromosome Disorders of Sex Development diagnosis, Sex Chromosome Disorders of Sex Development diagnostic imaging, Trisomy diagnosis, XYY Karyotype diagnosis, XYY Karyotype diagnostic imaging, Abortion, Induced statistics & numerical data, Abortion, Spontaneous epidemiology, Pregnancy Outcome epidemiology, Sex Chromosome Disorders epidemiology, Sex Chromosome Disorders of Sex Development epidemiology, XYY Karyotype epidemiology
Abstract

Objective: Sex chromosome aneuploidies are frequently detected fortuitously in a prenatal diagnosis. Most cases of 47, XXX and 47, XYY syndromes are diagnosed in this context, and parents are thus faced with an unexpected situation. The objective of the present study was to characterize a French cohort of prenatally diagnosed cases of 47, XXX and 47, XYY and to evaluate the termination of pregnancy (TOP) rate before and after France's implementation of multidisciplinary centres for prenatal diagnosis in 1997., Methods: This retrospective study identified respectively 291 and 175 cases of prenatally diagnosed 47, XXX and 47, XYY between 1976 and 2012. For each case, the indication, maternal age, karyotype and outcome were recorded., Results: Most diagnoses of the two conditions were fortuitous. The occurrence of 47, XXX was associated with advanced maternal age. The overall TOP rate was higher for 47, XXX (22.9%) than for 47, XYY (14.6%), although this difference was not statistically significant. However, the TOP rates fell significantly after 1997 (from 41.1% to 11.8% for 47, XXX and from 25.8% to 6.7% for 47, XYY)., Conclusion: The TOP rates after prenatal diagnoses of 47, XXX and 47, XYY fell significantly after 1997, following France's implementation of multidisciplinary centres for prenatal diagnosis. © 2016 John Wiley & Sons, Ltd., (© 2016 John Wiley & Sons, Ltd.)

Published
2016
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23. Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers.

Author

El Chehadeh S, Bonnet C, Callier P, Béri M, Dupré T, Payet M, Ragon C, Mosca-Boidron AL, Marle N, Mugneret F, Masurel-Paulet A, Thevenon J, Seta N, Duplomb L, Jonveaux P, Faivre L, and Thauvin-Robinet C

Abstract

Intellectual disability (ID), which affects around 2-3% of the general population, is classically divided into syndromic and nonsyndromic forms, with several modes of inheritance. Nonsyndromic autosomal recessive ID (NS-ARID) appears extremely heterogeneous with numerous genes identified to date, including inborn errors of metabolism. The TUSC3 gene encodes a subunit of the endoplasmic reticulum (ER)-bound oligosaccharyltransferase complex, which mediates a key step of N-glycosylation. To date, only five families with NS-ARID and TUSC3 mutations or rearrangements have been reported in the literature. All patients had speech delay, moderate-to-severe ID, and moderate facial dysmorphism. Microcephaly was noted in one third of patients, as was short stature. No patients had congenital malformation except one patient with unilateral cryptorchidism. Glycosylation analyses of patients' fibroblasts showed normal N-glycan synthesis and transfer. We present a review of the 19 patients previously described in the literature and report on a sixth consanguineous family including two affected sibs, with intellectual disability, unspecific dysmorphic features, and no additional malformations identified by high-resolution array-CGH. A homozygous truncating intragenic duplication of the TUSC3 gene leading to an aberrant transcript was detected in two siblings. This observation, which is the first reported case of TUSC3 homozygous duplication, confirms the implication of TUSC3 in NS-ARID and the power of the high-resolution array-CGH in identifying intragenic rearrangements of genes implicated in nonsyndromic ID and rare diseases.

Published
2015
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24. Prenatal diagnosis of Juberg-Hayward syndrome.

Author

Couvreur-Lionnais S, Rousseau T, Laurent N, Thauvin-Robinet C, Senet-Lacombe E, Delezoïde AL, Mugneret F, Durand C, Faivre L, and Sagot P

Subjects
Abortion, Induced, Adult, Diagnosis, Differential, Female, Humans, Infant, Newborn, Male, Orofaciodigital Syndromes diagnostic imaging, Orofaciodigital Syndromes embryology, Pregnancy, Pregnancy Trimester, Second, Orofaciodigital Syndromes diagnosis, Ultrasonography, Prenatal
Abstract

Juberg-Hayward syndrome is a rare autosomal recessive syndrome characterised by the association of growth retardation, microcephaly, cleft lip and palate, and thumb and radial ray abnormalities. To date, no prenatal cases have been reported. Here, we report on the first prenatal case of Juberg-Hayward syndrome. The diagnosis was established following fetopathological study. Besides the cardinal features of the syndrome, this prenatal case was remarkable for the severity of the short arm malformation and by the finding of big toe agenesis and cerebral abnormalities including hydrocephalus, agenesis of corpus callosum, and cerebellar hypoplasia. We conclude that the diagnosis of Juberg-Hayward syndrome can be discussed prenatally following ultrasound diagnosis of the association of intrauterine growth restriction, microcephaly, thumb/radial anomalies, and cleft lip/palate., (Copyright 2005 John Wiley & Sons, Ltd.)

Published
2005
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25. Prenatal overgrowth and mosaic trisomy 15q25-qter including the IGF1 receptor gene.

Author

Faivre L, Rousseau T, Laurent N, Gosset P, Sanlaville D, Thauvin-Robinet C, Cusin V, Lionnais S, Callier P, Khau Van Kien P, Huet F, Turleau C, Sagot P, and Mugneret F

Subjects
Abortion, Induced, Adult, Diagnosis, Differential, Female, Humans, Maternal Age, Pregnancy, Pregnancy Trimester, Second, Pregnancy, High-Risk, Trisomy genetics, Trisomy pathology, Chromosomes, Human, Pair 15, Prenatal Diagnosis, Receptor, IGF Type 1 genetics, Trisomy diagnosis
Abstract

Overgrowth is rarely associated with chromosomal imbalances. Here, we report on a male foetus presenting with overgrowth and additional material on the short arm of one of the chromosome 15 in 12% of lymphocytes and 50% of amniotic cells. Parents' karyotypes were normal, indicating a de novo origin for this unbalanced rearrangement. Complementary studies using cytogenetic and FISH studies showed that this additional material resulted in a 15q25-qter trisomy and confirmed the presence of three copies of the insulin-like growth factor 1 receptor (IGF1R) gene, included in the trisomic region. Autopsy performed after termination of pregnancy revealed isolated overgrowth and absence of visceral malformations. The possible mechanisms and origins for the formation of this mosaic pure trisomy are complex. The present observation emphasises the hypothesis that the overgrowth phenotype, frequently reported in patients with trisomy including the 15q26 region, might be causally related to a dosage effect of the IGF1R gene, as well as the importance of chromosome analysis in patients with overgrowth. It also confirms that the overgrowth is of prenatal onset in those observations., (Copyright 2004 John Wiley & Sons, Ltd.)

Published
2004
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