Journal of Medical Genetics - Abstracts

Journal of Medical Genetics
Androgenetic/biparental mosaicism causes placental mesenchymal dysplasia.HealthLivasy, C.A., Kaiser-Rogers, K.A., McFadden, D.E., Dansereau, J., Jiang, R., Knops, J.F., Lefebvre, L., Rao, K.W., Robinson, W.P.
Cardiovascular genetics: are we there yet?.HealthSturm, A. C.
Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1.HealthTanaka, K., Yamanaka, T., Miura, K., Yamada, K., Ishihara, N., Kuwabara, N., Kato, J., Hara, Y., Ohya, K., Mimaki, M., Nomura, Y., Hoshino, K, Kobayashi, Y., Matsushima, M., Ohki, T., Segawa, M., Nitta, H., Ezoe, T., Yoneda, M., Kuroda, T., Onuma, A., Kumagai, T., Wakamatsu, N., Nagaya,M., Saji, T., Saeki, M.
Embryonic expression of the human MID 1 gene and its mutations in Opitz syndrome.HealthMunnich, A., Meroni, G., Lyonnet, S., Vekemans, M., Attie. Bitach, T., Pinson, L., Auge, J., Audollent, S., Mattei, G., Etchevers, H., Gigarel, N., Razavi, F., Lacombe, D., Odent, S., M Le Merrer, Amiel, J.
Functional dimorphism of two hAgRP promoter SNPs in linkage disequilibrium.HealthRao, D.C., Bouchard, C., Bai, F., Rankinen, T., Charbonneau, C., Argyropoulos, G., Belsham, D.D.
Genotype-phenotype correlations in Peutz-Jeghers syndrome.HealthKeitheri-Cheteri, M.B., Nation, L., Sabripour, M., Lynch, P.M, C Wei, Fidder, H.H, Friedman, E., McGarrity, T.J., Frazier, M.L.
Glutathione S-transferase M1, T1 status and the risk of head and neck cancer: a meta-analysis.HealthZ Ye, H song, Y Guo
Inhibin alpha-subunit (INHA) gene and locus changes in paediatric adrenocortical tumors from TP53 R337H mutation heterozygote carriers.HealthLongui, C.A., Mendonca, B.B., Figueiredo, B., Lemos-Marini, S.H.V., Castro, M., Lancellotti, C.L.P., Watanabe, C., Liberatore, R.,Jr., Rocha, M.N., Calliari, L.E.P., Monte, O., Melo, M.B., Guerra, G., Junior., Latronico, A.C., Sbragia-Neto, L., Baptista, M.T.M., Moreira, A., Stratakis, C.A., Taymans, S.E., Nigri, A., Tardelli, A.M.D.
Large scale association analysis for identification of genes underlying premature coronary heart disease: cumulative perspective from analysis of 111 candidate genes.HealthRao, S., McCarthy, J.J., Parker, A., Salem, R., Moliterno, D.J., Q Wangi Plow, E.F, G Shen, Rogers, W.J., Newby, L.K, Cannata, R., Glatt, K, Topol, E.J.
PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome.HealthMatera, I., M Di Duca, Puppo, F., Bachetti, T., Morandi, F., Cilio, M.R., Casiraghi, G.M., Hofstra, R., Hennekam, R., Schober, J.G., Ravazzolo, R., Ottonello G., Ceccherini, I.
Sequence variation in mitochondrial complex I genes: mutation or polymorphism?HealthMitchell, A.L., Elson, J.L., Howell, N., Taylor, R.W., Turnbull, D.M.
Spondylo-epi-metaphyseal dysplasia(SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD.HealthMunnich, A., Borochowitz, Z.U., Scheffer, D., Adir, V., Cormier-Daire, V.
Variable pentrance of a familial progressive necrotising encephalopathy due to a novel tRNA(super lle) homoplasmic mutation in the mitochondrial genome.HealthSuzuki, T., Limongelli, A., Schaefer, J., Jackson, S., Invernizzi, F., Kirino, Y., Reichmann, H., Zeviani, M.
Will the real Cowden syndrome please stand up (again)? expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome.HealthPilarski, R.
Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation.HealthKleefstra, T., Oudakker, A.R., Yntema, H.G., Banning, M.J.G., Chelly, J., Kalscheuer, V.M., Moraine, C., Janssen, I.M., Fryns, J-P., Roper, H-H., Sistermans, E.A., Vries L B A de., Nillesen, W.N., Hamel, B.C.J., Bokhoven, H van.
This website is not affiliated with document authors or copyright owners. This page is provided for informational purposes only. Unintentional errors are possible.