Search Results - "Jouk, S"

Prevalence and characteristics of children with mild intellectual disability in a French county by David, M., Dieterich, K., Billette de Villemeur, A., Jouk, P.-S., Counillon, J., Larroque, B., Bloch, J., Cans, C.

“…Background Studies conducted on mild intellectual disability (MID) in children are infrequent and the prevalence rates vary widely. This study aimed to…”
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Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families by Petit, F., Jourdain, A.-S., Andrieux, J., Baujat, G., Baumann, C., Beneteau, C., David, A., Faivre, L., Gaillard, D., Gilbert-Dussardier, B., Jouk, P.-S., Le Caignec, C., Loget, P., Pasquier, L., Porchet, N., Holder-Espinasse, M., Manouvrier-Hanu, S., Escande, F.

“…Split hand/foot malformation (SHFM) with long‐bone deficiency (SHFLD, MIM#119100) is a rare condition characterized by SHFM associated with long‐bone…”
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Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling? by El Chehadeh, S., Touraine, R., Prieur, F., Reardon, W., Bienvenu, T., Chantot‐Bastaraud, S., Doco‐Fenzy, M., Landais, E., Philippe, C., Marle, N., Callier, P., Mosca‐Boidron, A.‐L., Mugneret, F., Le Meur, N., Goldenberg, A., Guerrot, A.‐M., Chambon, P., Satre, V., Coutton, C., Jouk, P.‐S., Devillard, F., Dieterich, K., Afenjar, A., Burglen, L., Moutard, M.‐L., Addor, M.‐C., Lebon, S., Martinet, D., Alessandri, J.‐L., Doray, B., Miguet, M., Devys, D., Saugier‐Veber, P., Drunat, S., Aral, B., Kremer, V., Rondeau, S., Tabet, A.‐C., Thevenon, J., Thauvin‐Robinet, C., Perreton, N., Des Portes, V., Faivre, L.

“…Duplication of the Xq28 region, involving MECP2 (dupMECP2), has been primarily described in males with severe developmental delay, spasticity, epilepsy,…”
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Currarino Syndrome and HPE Microform Associated with a 2.7-Mb Deletion in 7q36.3 Excluding SHH Gene by Coutton, C., Poreau, B., Devillard, F., Durand, C., Odent, S., Rozel, C., Vieville, G., Amblard, F., Jouk, P.-S., Satre, V.

“…Holoprosencephaly (HPE) is the most common forebrain defect in humans. It results from incomplete midline cleavage of the prosencephalon and can be caused by…”
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190-kb duplication in 1p36.11 including PIGV and ARID1A genes in a girl with intellectual disability and hexadactyly by Coutton, C, Bidart, M, Rendu, J, Devillard, F, Vieville, G, Amblard, F, Lopez, G, Jouk, P-S, Satre, V

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Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I by Saal, S, Faivre, L, Aral, Bernard, Gigot, N, Toutain, A, Van Maldergem, L, Destree, A, Maystadt, I, Cosyns, J-P, Jouk, P-S, Loeys, B, Chauveau, D, Bieth, E, Layet, V, Mathieu, M, Lespinasse, J, Teebi, A, Franco, B, Gautier, E, Binquet, C, Masurel-Paulet, A, Mousson, C, Gouyon, J-B, Huet, F, Thauvin-Robinet, C

“…Saal S, Faivre L, Aral B, Gigot N, Toutain A, Van Maldergem L, Destree A, Maystadt I, Cosyns J‐P, Jouk P‐S, Loeys B, Chauveau D, Bieth E, Layet V, Mathieu M,…”
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Quality control of an image-scoring method for nuchal translucency ultrasonography by Fries, Nicolas, MD, Althuser, Marc, MD, Fontanges, Marianne, MD, Talmant, Claude, MD, Jouk, Pierre S., PhD, Tindel, Malka, SM, Duyme, Michel, PhD

“…Objective The objective of the study was to describe a new image-scoring method (NISM) for the measurement of nuchal translucency and crown-rump length on…”
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MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia by Coutton, Charles, Zouari, Raoudha, Abada, Farid, Ben Khelifa, Mariem, Merdassi, Ghaya, Triki, Chema, Escalier, Denise, Hesters, Laetitia, Mitchell, Valérie, Levy, Rachel, Sermondade, Nathalie, Boitrelle, Florence, Vialard, François, Satre, Véronique, Hennebicq, Sylviane, Jouk, Pierre-Simon, Arnoult, Christophe, Lunardi, Joël, Ray, Pierre F.

“…STUDY QUESTION Do DPY19L2 heterozygous deletions and point mutations account for some cases of globozoospermia? SUMMARY ANSWER Two DPY19L2 heterozygous…”
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Fetal lung volume in congenital diaphragmatic hernia by Bonfils, M, Emeriaud, G, Durand, C, Brancato, S, Nugues, F, Jouk, P-S, Wroblewski, I, Debillon, T

“…In a retrospective study of 22 neonates with congenital diaphragmatic hernia, fetal lung volume (FLV) measured by magnetic resonance imaging was associated…”
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Rare diseases in disabled children: an epidemiological survey by Guillem, P, Cans, C, Robert-Gnansia, E, Aymé, S, Jouk, P S

“…Aim:To estimate the contribution of rare diseases (RD) to severe impairment in 7-year-old children.Methods:Data from a morbidity register of childhood…”
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Trends in elective terminations of pregnancy between 1989 and 2000 in a French county (the Isère) by Guillem, P., Fabre, B., Cans, C., Robert-Gnansia, E., Jouk, P. S.

“…Objectives This study was performed in order to provide a description of indications for induced elective terminations of pregnancy (ETOP), their…”
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Three-dimensional cartography of the pattern of the myofibres in the second trimester fetal human heart by Jouk, P S, Usson, Y, Michalowicz, G, Grossi, L

“…The aim of the present study was to describe the fibre architecture of the fetal heart at mid gestation, and to clarify some persistent controversies…”
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Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects by Laquérriere, Annie, Maluenda, Jérome, Camus, Adrien, Fontenas, Laura, Dieterich, Klaus, Nolent, Flora, Zhou, Jié, Monnier, Nicole, Latour, Philippe, Gentil, Damien, Héron, Delphine, Desguerres, Isabelle, Landrieu, Pierre, Beneteau, Claire, Delaporte, Benoit, Bellesme, Céline, Baumann, Clarisse, Capri, Yline, Goldenberg, Alice, Lyonnet, Stanislas, Bonneau, Dominique, Estournet, Brigitte, Quijano-Roy, Susana, Francannet, Christine, Odent, Sylvie, Saint-Frison, Marie-Hélène, Sigaudy, Sabine, Figarella-Branger, Dominique, Gelot, Antoinette, Mussini, Jean-Marie, Lacroix, Catherine, Drouin-Garraud, Valerie, Malinge, Marie-Claire, Attié-Bitach, Tania, Bessieres, Bettina, Bonniere, Maryse, Encha-Razavi, Ferechte, Beaufrère, Anne-Marie, Khung-Savatovsky, Suonary, Perez, Marie José, Vasiljevic, Alexandre, Mercier, Sandra, Roume, Joelle, Trestard, Laetitia, Saugier-Veber, Pascale, Cordier, Marie-Pierre, Layet, Valérie, Legendre, Marine, Vigouroux-Castera, Adeline, Lunardi, Joel, Bayes, Monica, Jouk, Pierre S, Rigonnot, Luc, Granier, Michèle, Sternberg, Damien, Warszawski, Josiane, Gut, Ivo, Gonzales, Marie, Tawk, Marcel, Melki, Judith

“…Non-syndromic arthrogryposis multiplex congenita (AMC) is characterized by multiple congenital contractures resulting from reduced fetal mobility. Genetic…”
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Swallowed amniotic band presenting as a cystic mass of the fetal nasal cavity by Boulet, S., Dusonchet, P., Berthier, D., André, D. M., Barbier, C., Schaal, J. P., Jouk, P. S.

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Brachytelephalangic chondrodysplasia punctata: prenatal diagnosis and postnatal outcome by Boulet, S, Dieterich, K, Althuser, M, Nugues, F, Durand, C, Charra, C, Schaal, J P, Jouk, P S

“…We report the prenatal management of a brachytelephalangic chondrodysplasia punctata (CDPX1) case and how postnatal findings confirmed the diagnosis. The…”
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Disabilities and trends over time in a French county, 1980–91 by Cans, C, Guillem, P, Fauconnier, J, Rambaud, P, Jouk, P S

“…Aim: To describe trends over time and types of disability for children born in a French county from 1980 to 1991. Methods: Data were collected from medical…”
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Cytomegalovirus Seroprevalence in French Pregnant Women: Parity and Place of Birth as Major Predictive Factors by Gratacap-Cavallier, B., Bosson, J. L., Morand, P., Dutertre, N., Chanzy, B., Jouk, P. S., Vandekerckhove, C., Cart-Lamy, P., Seigneurin, J. M.

“…In this study we present data on cytomegalovirus (CMV) seroprevalence in pregnant women in France. One thousand and eighteen women were enrolled in a…”
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Prenatally diagnosed periventricular nodular heterotopia: Further delineation of the imaging phenotype and outcome by Deloison, B., Sonigo, P., Millischer-Bellaiche, A.E., Quibel, T., Cavallin, M., Benoist, G., Quelin, C., Jouk, P.S., Lev, D., Alison, M., Baumann, C., Beldjord, C., Razavi, F., Bessières, B., Boddaert, N., Ville, Y., Salomon, L.J., Bahi-Buisson, N.

“…Periventricular nodular heterotopia (PNH) is a malformation of cortical development which presents with heterogeneous imaging, neurological phenotype and…”
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Efficacy of routine fetal ultrasound screening for congenital heart disease in Isère county, France by Klein, S. K., Cans, C., Robert, E., Jouk, P. S.

“…Recent literature has revealed different percentages of prenatal detection of congenital heart disease. Therefore we chose to analyse the sensitivity of this…”
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A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease : is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes? by PINGAULT, Veronique, BONDURAND, Nadège, LEMORT, Nicole, SANCANDI, Monica, CECCHERINI, Isabella, HUGOT, Jean-Pierre, JOUK, Pierre-Simon, GOOSSENS, Michel

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