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Results:
1-13
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Results: 13
Authors:
Malou, E
Gekas, J
Troucelier-Lucas, V
Mornet, E
Razafimanantsoa, L
Cuvelier, B
Mathieu, M
Thepot, F
Citation: E. Malou et al., X-linked recessive chondrodysplasia punctata: cytogenetic and molecular biology study., ARCH PED, 8(2), 2001, pp. 176-180
Authors:
Lia-Baldini, AS
Muller, F
Taillandier, A
Gibrat, JF
Mouchard, M
Robin, B
Simon-Bouy, B
Serre, JL
Aylsworth, AS
Bieth, E
Delanote, S
Freisinger, P
Hu, JCC
Krohn, HP
Nunes, ME
Mornet, E
Citation: As. Lia-baldini et al., A molecular approach to dominance in hypophosphatasia, HUM GENET, 109(1), 2001, pp. 99-108
Authors:
Megarbane, A
Waked, N
Chouery, E
Moglabey, YB
Saliba, N
Mornet, E
Serre, JL
Slim, R
Citation: A. Megarbane et al., Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers, AM J MED G, 98(3), 2001, pp. 244-249
Authors:
Sergi, C
Mornet, E
Troeger, J
Voigtlaender, T
Citation: C. Sergi et al., Perinatal hypophosphatasia: Radiology, pathology and molecular biology studies in a family harboring a splicing mutation (648+1A) and a novel missense mutation (N400S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene, AM J MED G, 103(3), 2001, pp. 235-240
Authors:
Deneux, C
Tardy, V
Dib, A
Mornet, E
Billaud, L
Charron, D
Morel, Y
Kuttenn, F
Citation: C. Deneux et al., Phenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency, J CLIN END, 86(1), 2001, pp. 207-213
Authors:
Mornet, E
Stura, E
Lia-Baldini, AS
Stigbrand, T
Menez, A
Le Du, MH
Citation: E. Mornet et al., Structural evidence for a functional role of human tissue nonspecific alkaline phosphatase in bone mineralization, J BIOL CHEM, 276(33), 2001, pp. 31171-31178
Authors:
Mornet, E
Citation: E. Mornet, Hypophosphatasia: The mutations in the tissue-nonspecific alkaline phosphatase gene, HUM MUTAT, 15(4), 2000, pp. 309-315
Authors:
Hu, JCC
Plaetke, R
Mornet, E
Zhang, CH
Sun, XL
Thomas, HF
Simmer, JP
Citation: Jcc. Hu et al., Characterization of a family with dominant hypophosphatasia, EUR J OR SC, 108(3), 2000, pp. 189-194
Authors:
Mornet, E
Gibrat, JF
Citation: E. Mornet et Jf. Gibrat, A 3D model of human P450c21: study of the putative effects of steroid 21-hydroxylase gene mutations, HUM GENET, 106(3), 2000, pp. 330-339
Authors:
Muller, F
Rebiffe, M
Taillandier, A
Oury, JF
Mornet, E
Citation: F. Muller et al., Parental origin of the extra chromosome in prenatally diagnosed fetal trisomy 21, HUM GENET, 106(3), 2000, pp. 340-344
Authors:
Zurutuza, L
Muller, F
Gibrat, JF
Taillandier, A
Simon-Buoy, B
Serre, JL
Mornet, E
Citation: L. Zurutuza et al., Correlations of genotype and phenotype in hypophosphatasia, HUM MOL GEN, 8(6), 1999, pp. 1039-1046
Authors:
Mornet, E
Muller, F
Ngo, S
Taillandier, A
Simon-Bouy, B
Maire, I
Oury, JF
Citation: E. Mornet et al., Correlation of alkaline phosphatase (ALP) determination and analysis of the tissue non-specific ALP gene in prenatal diagnosis of severe hypophosphatasia, PRENAT DIAG, 19(8), 1999, pp. 755-757
Authors:
Gehring, B
Mornet, E
Plath, H
Hansmann, M
Bartmann, P
Brenner, RE
Citation: B. Gehring et al., Perinatal hypophosphatasia: diagnosis and detection of heterozygote carriers within the family, CLIN GENET, 56(4), 1999, pp. 313-317
Risultati:
1-13
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