Multiple mantleomas: an unusual clinical presentation of an intriguing tumour
Thielen, A.-M., Blouin, J.-L., Piris, A., Mihm, M.C., Kaya, G.
Published in British journal of dermatology (1951) (01.08.2014)
Published in British journal of dermatology (1951) (01.08.2014)
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Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders
Fokstuen, S., Makrythanasis, P., Nikolaev, S., Santoni, F., Robyr, D., Munoz, A., Bevillard, J., Farinelli, L., Iseli, C., Antonarakis, S.E., Blouin, J.-L.
Published in Clinical genetics (01.04.2014)
Published in Clinical genetics (01.04.2014)
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Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease
de Pontual, L., Pelet, A., Clement-Ziza, M., Trochet, D., Antonarakis, S.E., Attie-Bitach, T., Beales, P.L., Blouin, J.-L., Dastot-Le Moal, F., Dollfus, H., Goossens, M., Katsanis, N., Touraine, R., Feingold, J., Munnich, A., Lyonnet, S., Amiel, J.
Published in Human mutation (01.08.2007)
Published in Human mutation (01.08.2007)
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Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders
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
Published in Human genomics (28.06.2016)
Published in Human genomics (28.06.2016)
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Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder
Varvagiannis, K, Hanquinet, S, Billieux, M H, De Luca, R, Rimensberger, P, Lidgren, M, Guipponi, M, Makrythanasis, P, Blouin, J L, Antonarakis, S E, Steinfeld, R, Kern, I, Poretti, A, Fluss, J, Fokstuen, S
Published in Neuropediatrics (01.04.2018)
Published in Neuropediatrics (01.04.2018)
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Genetic heterogeneity in schizophrenia : stratification of genome scan data using co-segregating related phenotypes
PULVER, A. E, MULLE, J, LASSETER, V. K, WOLYNIEC, P. S, THORNQULST, M. H, MCGRATH, J. A, NESTADT, G, SWARTZ, K. L, BLOUIN, J-L, DOMBROSKI, B, LIANG, K-Y, HOUSMAN, D. E, KAZAZIAN, H. H, ANTONARAKIS, S. E
Published in Molecular psychiatry (01.11.2000)
Published in Molecular psychiatry (01.11.2000)
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Resting-state functional connectivity abnormalities in subjective cognitive decline: A 7T MRI study
Pievani, M., Ribaldi, F., Toussas, K., Da Costa, S., Jorge, J., Reynaud, O., Chicherio, C., Blouin, J.L., Scheffler, M., Garibotto, V., Jovicich, J., Jelescu, I.O., Frisoni, G.B.
Published in Neurobiology of aging (01.12.2024)
Published in Neurobiology of aging (01.12.2024)
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Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity
Blouin, J L, Meeks, M, Radhakrishna, U, Sainsbury, A, Gehring, C, Saïl, G D, Bartoloni, L, Dombi, V, O'Rawe, A, Walne, A, Chung, E, Afzelius, B A, Armengot, M, Jorissen, M, Schidlow, D V, van Maldergem, L, Walt, H, Gardiner, R M, Probst, D, Guerne, P A, Delozier-Blanchet, C D, Antonarakis, S E
Published in European journal of human genetics : EJHG (01.02.2000)
Published in European journal of human genetics : EJHG (01.02.2000)
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Schizophrenia: a genome scan targets chromosomes 3p and 8p as potential sites of susceptibility genes
Pulver, A E, Lasseter, V K, Kasch, L, Wolyniec, P, Nestadt, G, Blouin, J L, Kimberland, M, Babb, R, Vourlis, S, Chen, H
Published in American journal of medical genetics (19.06.1995)
Published in American journal of medical genetics (19.06.1995)
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Multicenter linkage study of schizophrenia candidate regions on chromosomes 5q, 6q, 10p, and 13q: Schizophrenia linkage collaborative group III
LEVINSON, D. F, HOLMANS, P, NORTON, N, WILLIAMS, N. M, SCHWAB, S. G, LERER, B, MOWRY, B. J, SANDERS, A. R, ANTONARAKIS, S. E, BLOUIN, J.-L, DELEUZE, J.-F, MALLET, J, STRAUB, R. E, OWEN, M. J, WILDENAUER, D. B, GEJMAN, P. V, PULVER, A. E, LAURENT, C, KENDLER, K. S, WALSH, D
Published in American journal of human genetics (01.09.2000)
Published in American journal of human genetics (01.09.2000)
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Peutz-Jeghers Syndrome: Confirmation of Linkage to Chromosome 19p13.3 and Identification of a Potential Second Locus, on 19q13.4
Mehenni, Hamid, Blouin, Jean-Louis, Radhakrishna, Uppala, Bhardwaj, Shiv Shanker, Bhardwaj, Kamla, Dixit, V.B., Richards, Kent F., Bermejo-Fenoll, Ambrosio, Silva Leal, Antonio, Raval, Ranjan C., Antonarakis, Stylianos E.
Published in American journal of human genetics (01.12.1997)
Published in American journal of human genetics (01.12.1997)
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Loss of LKB1 Kinase Activity in Peutz-Jeghers Syndrome, and Evidence for Allelic and Locus Heterogeneity
Mehenni, Hamid, Gehrig, Corinne, Nezu, Jun-ichi, Oku, Asuka, Shimane, Miyuki, Rossier, Colette, Guex, Nicolas, Blouin, Jean-Louis, Scott, Hamish S., Antonarakis, Stylianos E.
Published in American journal of human genetics (01.12.1998)
Published in American journal of human genetics (01.12.1998)
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The Phenotypic Spectrum of GLI3 Morphopathies Includes Autosomal Dominant Preaxial Polydactyly Type-IV and Postaxial Polydactyly Type-A/B; No Phenotype Prediction from the Position of GLI3 Mutations
Radhakrishna, Uppala, Bornholdt, Dorothea, Scott, Hamish S., Patel, Uday C., Rossier, Colette, Engel, Hartmut, Bottani, Armand, Chandal, Divya, Blouin, Jean-Louis, Solanki, Jitendra V., Grzeschik, Karl-Heinz, Antonarakis, Stylianos E.
Published in American journal of human genetics (01.09.1999)
Published in American journal of human genetics (01.09.1999)
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Pre‐eclampsia and peripartum cardiomyopathy in molar pregnancy: clinical implication for maternally imprinted genes
Billieux, M.‐H., Petignat, P., Fior, A., Mhawech, P., Blouin, J.‐L., Dahoun, S., Vassilakos, P.
Published in Ultrasound in obstetrics & gynecology (01.04.2004)
Published in Ultrasound in obstetrics & gynecology (01.04.2004)
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An apparently dominant bipolar affective disorder (BPAD) locus on chromosome 20p11.2-q11.2 in a large Turkish pedigree
Radhakrishna, U, Senol, S, Herken, H, Gucuyener, K, Gehrig, C, Blouin, J L, Akarsu, N A, Antonarakis, S E
Published in European journal of human genetics : EJHG (01.01.2001)
Published in European journal of human genetics : EJHG (01.01.2001)
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The Locus for Combined Factor V-Factor VIII Deficiency (F5F8D) Maps to 18q21, between D18S849 and D18S1103
Neerman-Arbez, M., Antonarakis, S.E., Blouin, J.-L., Zeinali, S., Akhtari, M., Afshar, Y., Tuddenham, E.G.D.
Published in American journal of human genetics (01.07.1997)
Published in American journal of human genetics (01.07.1997)
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Critical Role of the D21S55 Region on Chromosome 21 in the Pathogenesis of Down Syndrome
Rahmani, Zohra, Blouin, Jean-Louis, Creau-Goldberg, Nicole, Watkins, Paul C., Mattei, Jean-François, Poissonnier, Marc, Prieur, Marguerite, Chettouh, Zoubida, Nicole, Annie, Aurias, Alain, Sinet, Pierre-Marie, Delabar, Jean-Maurice
Published in Proceedings of the National Academy of Sciences - PNAS (01.08.1989)
Published in Proceedings of the National Academy of Sciences - PNAS (01.08.1989)
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A balanced complex chromosomal rearrangement (BCCR) in a family with reproductive failure
Lespinasse, J., North, M.O., Paravy, C., Brunel, M.J., Malzac, P., Blouin, J.L.
Published in Human reproduction (Oxford) (01.10.2003)
Published in Human reproduction (Oxford) (01.10.2003)
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Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia
Failly, M, Bartoloni, L, Letourneau, A, Munoz, A, Falconnet, E, Rossier, C, de Santi, M M, Santamaria, F, Sacco, O, DeLozier-Blanchet, C D, Lazor, R, Blouin, J-L
Published in Journal of medical genetics (01.04.2009)
Published in Journal of medical genetics (01.04.2009)
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