Search Results - "JONVEAUX, P"

Overview of hospitalizations in women undergoing oocyte retrieval for ART in the French national health data system by Lemardeley, G, Pirrello, O, Dieterlé, S, Zebina, A, Astrugue, C, Jonveaux, P, Lucas-Samuel, S, Couchoud, C

“…Abstract STUDY QUESTION What is the incidence rate of complications in women undergoing ART procedures compared to the period prior to their first oocyte…”
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Rett‐like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5‐related disease by Allou, L., Julia, S., Amsallem, D., El Chehadeh, S., Lambert, L., Thevenon, J., Duffourd, Y., Saunier, A., Bouquet, P., Pere, S., Moustaïne, A., Ruaud, L., Roth, V., Jonveaux, P., Philippe, C.

“…Several genes have been implicated in Rett syndrome (RTT) in its typical and variant forms. We applied next‐generation sequencing (NGS) to evaluate for…”
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Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females by Philippe, C, Amsallem, D, Francannet, C, Lambert, L, Saunier, A, Verneau, F, Jonveaux, P

“…The FOXG1 gene has been recently implicated in the congenital form of Rett syndrome (RTT). It encodes the fork-head box protein G1, a winged-helix…”
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Mutation of SLC9A1, encoding the major Na⁺/H⁺ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome by Guissart, Claire, Li, Xiuju, Leheup, Bruno, Drouot, Nathalie, Montaut-Verient, Bettina, Raffo, Emmanuel, Jonveaux, Philippe, Roux, Anne-Françoise, Claustres, Mireille, Fliegel, Larry, Koenig, Michel

“…Lichtenstein-Knorr syndrome is an autosomal recessive condition that associates sensorineural hearing loss and cerebellar ataxia. Here, we report the first…”
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Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature by Nemos, C, Lambert, L, Giuliano, F, Doray, B, Roubertie, A, Goldenberg, A, Delobel, B, Layet, V, N'guyen, MA, Saunier, A, Verneau, F, Jonveaux, P, Philippe, C

“…The CDKL5 gene has been implicated in the molecular etiology of early‐onset intractable seizures with infantile spasms (IS), severe hypotonia and atypical Rett…”
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Clinical and pathologic characteristics of breast cancer patients carrying the c.3481_3491del11 mutation by El Tannouri, R., Albuisson, E., Jonveaux, P., Luporsi, E.

“…Tumor characteristics are used today to evaluate the possibility of mutation and to target mutation screening in families with high risk of breast and/or…”
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Fetal chromosome technique by microarray-based comparative genomic hybridization by Jonveaux, P

“…Microarray-based comparative genomic hybridization (aCGH) is becoming an efficient clinical diagnostic tool enabling genome-wide screening of segmental copy…”
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Is there a genetic anticipation in breast and/or ovarian cancer families with the germline c.3481_3491del11 mutation? by El Tannouri, R., Albuisson, E., Jonveaux, P., Luporsi, E.

“…The aim of the current analysis is to evaluate any differences of breast or ovarian cancer age at diagnosis between mothers and daughters carrying the…”
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A retrospective study by oligonucleotide array-CGH analysis in 50 fetuses with multiple malformations by Valduga, M., Philippe, C., Bach Segura, P., Thiebaugeorges, O., Miton, A., Beri, M., Bonnet, C., Nemos, C., Foliguet, B., Jonveaux, P.

“…Objective To retrospectively define the frequency and the nature of submicroscopic chromosomal imbalances among fetuses with multiple congenital anomalies…”
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MEF2C mutations are a rare cause of Rett or severe Rett-like encephalopathies by Lambert, L, Bienvenu, T, Allou, L, Valduga, M, Echenne, B, Diebold, B, Mignot, C, Héron, D, Roth, V, Saunier, A, Moustaïne, A, Jonveaux, P, Philippe, C

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SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum by Goizet, C, Boukhris, A, Maltete, D, Guyant-Maréchal, L, Truchetto, J, Mundwiller, E, Hanein, S, Jonveaux, P, Roelens, F, Loureiro, J, Godet, E, Forlani, S, Melki, J, Auer-Grumbach, M, Fernandez, J C, Martin-Hardy, P, Sibon, I, Sole, G, Orignac, I, Mhiri, C, Coutinho, P, Durr, A, Brice, A, Stevanin, G

“…Hereditary spastic paraplegias (HSPs) are very heterogeneous inherited neurodegenerative disorders. Our group recently identified ZFYVE26 as the gene…”
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Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature by Agopiantz, M., Corbonnois, P., Sorlin, A., Bonnet, C., Klein, M., Hubert, N., Pascal-Vigneron, V., Jonveaux, P., Cuny, T., Leheup, B., Weryha, G.

“…First described in 1983, Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive genetic disorder that leads to a spectrum of hypogonadal symptoms in…”
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Adverse obstetric and perinatal outcome with in vitro fertilization technology: A French nationwide population-based study by Pessione, F, De Mouzon, J, Deveaux, A, Epelboin, S, Gervoise-Boyer, M-J, Jimenez, C, Levy, R, Valentin, M, Viot, G, Bergère, M, Merlet, F, Jonveaux, P

“…The objective of this study was to quantify the risk of maternal and perinatal morbidity with in vitro fertilization (IVF) technology compared to non-IVF…”
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Lack of referral for genetic counseling and testing in BRCA1/2 and Lynch syndromes: a nationwide study based on 240,134 consultations and 134,652 genetic tests by Pujol, P., Lyonnet, D. Stoppa, Frebourg, T., Blin, J., Picot, M. C., Lasset, C., Dugast, C., Berthet, P., de Paillerets, B. Bressac, Sobol, H., Grandjouan, S., Soubrier, F., Buecher, B., Guimbaud, R., Lidereau, R., Jonveaux, P., Houdayer, C., Giraud, S., Olschwang, S., Nogue, E., Galibert, V., Bara, C., Nowak, F., Khayat, D., Nogues, C.

“…Based on nationwide data from the French national cancer institute (INCa), we analyzed the evolution of cancer genetics consultations and testing over time,…”
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DNMT3B mutations and DNA methylation defect define two types of ICF syndrome by Jiang, Y.L., Rigolet, M., Bourc'his, D., Nigon, F., Bokesoy, I., Fryns, J.P., Hultén, M., Jonveaux, P., Maraschio, P., Mégarbané, A., Moncla, A., Viegas-Péquignot, E.

“…ICF syndrome is a rare autosomal recessive disease characterized by variable immunodeficiency, centromeric instability, and facial abnormalities. Mutations in…”
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Gene–disease relationship discovery based on model-driven data integration and database view definition by Yilmaz, S., Jonveaux, P., Bicep, C., Pierron, L., Smaïl-Tabbone, M., Devignes, M.D.

“…Motivation: Computational methods are widely used to discover gene–disease relationships hidden in vast masses of available genomic and post-genomic data. In…”
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Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy by Rosas-Vargas, H, Bahi-Buisson, N, Philippe, C, Nectoux, J, Girard, B, N'Guyen Morel, M A, Gitiaux, C, Lazaro, L, Odent, S, Jonveaux, P, Chelly, J, Bienvenu, T

“…Mutations in the human X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been shown to cause infantile spasms as well as Rett syndrome-like phenotype…”
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Undiagnosed phenylketonuria in parents of phenylketonuric patients, is it worthwhile to be checked? by Wiedemann, A., Leheup, B., Battaglia-Hsu, S.-F., Jonveaux, P., Jeannesson, E., Feillet, F.

“…In our phenylketonuria (PKU) cohort of 120 patients, we uncovered a couple of cases of undiagnosed mild phenylketonuria (mPKU)/hyperphenylalaninemia (mHPA) in…”
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Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations by Luciani, J J, de Mas, P, Depetris, D, Mignon-Ravix, C, Bottani, A, Prieur, M, Jonveaux, P, Philippe, A, Bourrouillou, G, de Martinville, B, Delobel, B, Vallee, L, Croquette, M-F, Mattei, M-G

“…Among the three deleted genes, it has been suggested that ProSAP2/SHANK3 is involved in the severe language impairment that characterises the 22q13 deletion…”
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Aberrant GRIA3 transcripts with multi‐exon duplications in a family with X‐linked mental retardation by Bonnet, C., Leheup, B., Béri, M., Philippe, C., Grégoire, M.‐J., Jonveaux, P.

“…Investigation of chromosomal rearrangements in patients with mental retardation (MR) is particularly informative in the search for novel genes involved in MR…”
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