Search Results - "Guipponi, M"

Genome-wide association study of increasing suicidal ideation during antidepressant treatment in the GENDEP project by Perroud, N, Uher, R, Ng, M Y M, Guipponi, M, Hauser, J, Henigsberg, N, Maier, W, Mors, O, Gennarelli, M, Rietschel, M, Souery, D, Dernovsek, M Z, Stamp, A S, Lathrop, M, Farmer, A, Breen, G, Aitchison, K J, Lewis, C M, Craig, I W, McGuffin, P

“…Suicidal thoughts during antidepressant treatment have been the focus of several candidate gene association studies. The aim of the present genome-wide…”
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New insights into the pharmacogenomics of antidepressant response from the GENDEP and STARD studies: rare variant analysis and high-density imputation by Fabbri, C, Tansey, K E, Perlis, R H, Hauser, J, Henigsberg, N, Maier, W, Mors, O, Placentino, A, Rietschel, M, Souery, D, Breen, G, Curtis, C, Sang-Hyuk, L, Newhouse, S, Patel, H, Guipponi, M, Perroud, N, Bondolfi, G, O'Donovan, M, Lewis, G, Biernacka, J M, Weinshilboum, R M, Farmer, A, Aitchison, K J, Craig, I, McGuffin, P, Uher, R, Lewis, C M

“…Genome-wide association studies have generally failed to identify polymorphisms associated with antidepressant response. Possible reasons include limited…”
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Wes of a Consanguineous Family with Schizophrenia and Mental Retardation in North Algeria by Dahdouh Guermouche, A, Guipponi, M, Prados, J, Antonarakis, S

“…Introduction Several studies have asserted the existence of a strong and complex genetic component in the determination of psychotic disorders. However, the…”
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The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro by Guipponi, Michel, Vuagniaux, Grégoire, Wattenhofer, Marie, Shibuya, Kazunori, Vazquez, Maria, Dougherty, Loretta, Scamuffa, Nathalie, Guida, Elizabeth, Okui, Michiyo, Rossier, Colette, Hancock, Manuela, Buchet, Karine, Reymond, Alexandre, Hummler, Edith, Marzella, Phillip L., Kudoh, Jun, Shimizu, Nobuyoshi, Scott, Hamish S., Antonarakis, Stylianos E., Rossier, Bernard C.

“…TMPRSS3 encodes a transmembrane serine protease that contains both LDLRA and SRCR domains and is mutated in non-syndromic autosomal recessive deafness…”
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Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders by Fokstuen, S, Makrythanasis, P, Hammar, E, Guipponi, M, Ranza, E, Varvagiannis, K, Santoni, F A, Albarca-Aguilera, M, Poleggi, M E, Couchepin, F, Brockmann, C, Mauron, A, Hurst, S A, Moret, C, Gehrig, C, Vannier, A, Bevillard, J, Araud, T, Gimelli, S, Stathaki, E, Paoloni-Giacobino, A, Bottani, A, Sloan-Béna, F, Sizonenko, L D'Amato, Mostafavi, M, Hamamy, H, Nouspikel, T, Blouin, J L, Antonarakis, S E

“…In order to optimally integrate the use of high-throughput sequencing (HTS) as a tool in clinical diagnostics of likely monogenic disorders, we have created a…”
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Consangunity and psychosis in Algeria. A family study by Dahdouh Guermouche, A, Prados, J, Guipponi, M, Bena, F, Stenz, L, Semaoune, B, Antonarakis, S, Hamamy, H

“…Several studies have affirmed the existence of a strong and complex genetic component in the determination of psychotic disorders. However, the genetic…”
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No evidence for the presence of genetic variants predisposing to psychotic disorders on the non-deleted 22q11.2 allele of VCFS patients by Guipponi, M, Santoni, F, Schneider, M, Gehrig, C, Bustillo, X B, Kates, W R, Morrow, B, Armando, M, Vicari, S, Sloan-Béna, F, Gagnebin, M, Shashi, V, Hooper, S R, Eliez, S, Antonarakis, S E

“…The velo-cardio-facial syndrome (VCFS) is caused by hemizygous deletions on chromosome 22q11.2. The VCFS phenotype is complex and characterized by frequent…”
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Copy number variants and therapeutic response to antidepressant medication in major depressive disorder by Tansey, K E, Rucker, J J H, Kavanagh, D H, Guipponi, M, Perroud, N, Bondolfi, G, Domenici, E, Evans, D M, Hauser, J, Henigsberg, N, Jerman, B, Maier, W, Mors, O, O'Donovan, M, Peters, T J, Placentino, A, Rietschel, M, Souery, D, Aitchison, K J, Craig, I, Farmer, A, Wendland, J R, Malafosse, A, Lewis, G, Kapur, S, McGuffin, P, Uher, R

“…It would be beneficial to find genetic predictors of antidepressant response to help personalise treatment of major depressive disorder (MDD). Rare copy number…”
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P.2.d.022 Gene by drug interactions in genome-wide pharmacogenetic data: a NEWMEDS study by Tansey, K, Lewis, C.M, Guipponi, M, Lewis, G, Wendland, J.R, McGuffin, P, Uher, R

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Association of the connexin36 gene with juvenile myoclonic epilepsy by Mas, C, Taske, N, Deutsch, S, Guipponi, M, Thomas, P, Covanis, A, Friis, M, Kjeldsen, M J, Pizzolato, G P, Villemure, J-G, Buresi, C, Rees, M, Malafosse, A, Gardiner, M, Antonarakis, S E, Meda, P

“…SNP c.333T>A was further genotyped on 94 additional Swiss controls. Since allele frequency and distribution of both genotypes and haplotypes were similar in…”
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412 Combination of Genomic Technologies and Consanguinity in Order to Identify Pathogenic Variants in Recessive Disorders by Makrythanasis, P, Nelis, M, Santoni, FA, Guipponi, M, Béna, F, Vanier, A, Duriaux-Sail, G, Gimelli, S, Stathaki, E, Falconnet, E, Temtamy, S, Megarbane, A, Aglan, M, Zaki, M, Fokstuen, S, Bottani, A, Masri, A, Psoni, S, Kitsiou, S, Frissyra, H, Kanavakis, E, All-Allawi, N, Sefiani, A, Al-Hait, S, Elalaoui, S, Jalkh, N, Al-Gazali, L, Al-Jasmi, F, Bouhamed, H Chaabouni, Hamamy, H, Antonarakis, SE

“…Consanguinity and inbreeding increase the sharing of alleles among individuals; thus a considerable number of autosomal recessive phenotypes occur in…”
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Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q by GUIPPONI, M, RIVIER, F, VIGEVANO, F, BECK, C, CRESPEL, A, ECHENNE, B, LUCCHINI, P, SEBASTIANELLI, R, BALDY-MOULINIER, M, MALAFOSSE, A

“…Benign familial infantile convulsions (BFIC) are an autosomal-dominant epileptic syndrome characterized by an age of onset within the first year of life…”
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A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) by Giorgio, Elisa, Robyr, Daniel, Spielmann, Malte, Ferrero, Enza, Di Gregorio, Eleonora, Imperiale, Daniele, Vaula, Giovanna, Stamoulis, Georgios, Santoni, Federico, Atzori, Cristiana, Gasparini, Laura, Ferrera, Denise, Canale, Claudio, Guipponi, Michel, Pennacchio, Len A, Antonarakis, Stylianos E, Brussino, Alessandro, Brusco, Alfredo

“…Chromosomal rearrangements with duplication of the lamin B1 (LMNB1) gene underlie autosomal dominant adult-onset demyelinating leukodystrophy (ADLD), a rare…”
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Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32 by STEFFEN, Michael Steffen, LEU, Costin, LA NEVE, Angela, CRICHIUTTI, Giovanni, DE KOVEL, Carolien G. F, TRENITE, Dorothée Kasteleijn-Nolst, DE HAAN, Gerrit-Jan, LINDHOUT, Dick, GAUS, Verena, SCHMITZ, Bettina, JANZ, Dieter, WEBER, Yvonne G, RUPPERT, Ann-Kathrin, BECKER, Felicitas, LERCHE, Holger, STEINHOFF, Bernhard J, KLEEFUSS-LIE, Ailing A, KUNZ, Wolfram S, SURGES, Rainer, ELGER, Christian E, MUHLE, Hiltrud, VON SPICZAK, Sarah, OSTERTAG, Philipp, ZARA, Federico, HELBIG, Ingo, STEPHANI, Ulrich, MØLLER, Rikke S, HJALGRIM, Helle, DIBBENS, Leanne M, BELLOWS, Susannah, OLIVER, Karen, MULLEN, Saul, SCHEFFER, Ingrid E, BERKOVIC, Samuel F, STRIANO, Pasquale, EVERETT, Kate V, GARDINER, Mark R, MARINI, Carla, GUERRINI, Renzo, LEHESJOKI, Anna-Elina, SIREN, Auli, ROBBIANO, Angela, CAPOVILLA, Giuseppe, TINUPER, Paolo, GAMBARDELLA, Antonio, BIANCHI, Amedeo

“…Genetic generalized epilepsies (GGEs) have a lifetime prevalence of 0.3% and account for 20-30% of all epilepsies. Despite their high heritability of 80%, the…”
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A nonsense mutation in the α4 subunit of the nicotinic acetylcholine receptor (CHRNA4) cosegregates with 20q-linked benign neonatal familial convulsions (EBNI) by C. Beck, B. Moulard, O. Steinlein, M. Guipponi, L. Vallee, P. Montpied, M. Baldy-Moulnier, A. Malafosse

“…Benign Familial Neonatal Convulsions (BFNC) is an epileptic disorder with an autosomal dominant mode of transmission. It has been shown that about 80% of BFNC…”
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SHANK3 mutation in consanguineous schizophrenia family in northwest Algeria by Dahdouh, A., Prados, J., Guipponi, M., Bena, F., Adouan, W., Antonarakis, S.

“…Several studies have asserted the existence of a strong and complex genetic component in the determination of psychotic disorders. GWAS studies conducted over…”
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A fok1 polymorphism in the human neuronal nicotinic acetylcholine receptor α4 subunit gene by GUIPPONI, M, BALDY-MOULINIER, M, MALAFOSSE, A

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Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness by Masmoudi, S., Antonarakis, S.E., Schwede, T., Ghorbel, A.M., Grati, M., Pappasavas, M.-P., Drira, M., Elgaied-Boulila, A., Wattenhofer, M., Rossier, C., Scott, H.S., Ayadi, H., Guipponi, M.

“…Regarding this article: The corresponding author of this article regrets that the last name of one of the co‐authors was misspelled. Dr. M’hamed GRATI was…”
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P3987Targeted exome sequencing for mendelian cardiac disorders within the Genome Clinic in Geneva by Fokstuen, S., Guipponi, M., Hammar, E.B., Makrythanasis, P., Meyer, P.H., Beghetti, M., Sekarski, N., Ranza, E., Lidgren, M., Santoni, F.A., Gehrig, C., Nouspikel, T.H., Antonarakis, S.E., Blouin, J.L.

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Genetic predictors of response to serotonergic and noradrenergic antidepressants in major depressive disorder: a genome-wide analysis of individual-level data and a meta-analysis by Tansey, Katherine E, Guipponi, Michel, Perroud, Nader, Bondolfi, Guido, Domenici, Enrico, Evans, David, Hall, Stephanie K, Hauser, Joanna, Henigsberg, Neven, Hu, Xiaolan, Jerman, Borut, Maier, Wolfgang, Mors, Ole, O'Donovan, Michael, Peters, Tim J, Placentino, Anna, Rietschel, Marcella, Souery, Daniel, Aitchison, Katherine J, Craig, Ian, Farmer, Anne, Wendland, Jens R, Malafosse, Alain, Holmans, Peter, Lewis, Glyn, Lewis, Cathryn M, Stensbøl, Tine Bryan, Kapur, Shitij, McGuffin, Peter, Uher, Rudolf

“…It has been suggested that outcomes of antidepressant treatment for major depressive disorder could be significantly improved if treatment choice is informed…”
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