Journal of Medical Genetics - Abstracts

Title	Subject	Authors
Journal of Medical Genetics
Androgenetic/biparental mosaicism causes placental mesenchymal dysplasia.	Health	Livasy, 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?.	Health	Sturm, A. C.
Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1.	Health	Tanaka, 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.	Health	Munnich, 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.	Health	Rao, D.C., Bouchard, C., Bai, F., Rankinen, T., Charbonneau, C., Argyropoulos, G., Belsham, D.D.
Genotype-phenotype correlations in Peutz-Jeghers syndrome.	Health	Keitheri-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.	Health	Z Ye, H song, Y Guo
Inhibin alpha-subunit (INHA) gene and locus changes in paediatric adrenocortical tumors from TP53 R337H mutation heterozygote carriers.	Health	Longui, 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.	Health	Rao, 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.	Health	Matera, 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?	Health	Mitchell, 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.	Health	Munnich, 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.	Health	Suzuki, 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.	Health	Pilarski, R.
Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation.	Health	Kleefstra, 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.

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