Pregnancy outcomes of prenatally diagnosed Turner syndrome: a French multicenter retrospective study including a series of 975 cases
Gruchy, N., Vialard, F., Blondeel, E., Le Meur, N., Joly-Hélas, G., Chambon, P., Till, M., Herbaut-Graux, M., Vigouroux-Castera, A., Coussement, A., Lespinasse, J., Amblard, F., Jimenez, M., Lebel Roy Camille, L., Carré-Pigeon, F., Flori, E., Mugneret, F., Jaillard, S., Yardin, C., Harbuz, R., Collonge Rame, M., Vago, P., Valduga, M., Leporrier, N.
Published in Prenatal diagnosis (01.12.2014)
Published in Prenatal diagnosis (01.12.2014)
Get full text
Journal Article
Pregnancy outcomes in 188 French cases of prenatally diagnosed Klinefelter syndrome
Gruchy, N., Vialard, F., Decamp, M., Choiset, A., Rossi, A., Le Meur, N., Moirot, H., Yardin, C., Bonnet-Dupeyron, M.N., Lespinasse, J., Herbaut-Graux, M., Till, M., Layet, V., Leporrier, N.
Published in Human reproduction (Oxford) (01.09.2011)
Published in Human reproduction (Oxford) (01.09.2011)
Get full text
Journal Article
Involvement and alteration of the Sonic Hedgehog pathway is associated with decreased cholesterol level in trisomy 18 and SLO amniocytes
Gruchy, N., Bigot, N., Jeanne Pasquier, C., Read, M.H., Odent, S., Galera, P., Leporrier, N.
Published in Molecular genetics and metabolism (01.06.2014)
Published in Molecular genetics and metabolism (01.06.2014)
Get full text
Journal Article
A novel mutation 3090 G > A of the mitochondrial 16S ribosomal RNA associated with myopathy
Coulbault, L., Deslandes, B., Herlicoviez, D., Read, M.H., Leporrier, N., Schaeffer, S., Mouadil, A., Lombès, A., Chapon, F., Jauzac, P., Allouche, S.
Published in Biochemical and biophysical research communications (26.10.2007)
Published in Biochemical and biophysical research communications (26.10.2007)
Get full text
Journal Article
Hyperechogenic fetal bowel: A large French collaborative study of 682 cases
Simon-Bouy, B., Satre, V., Ferec, C., Malinge, M.C., Girodon, E., Denamur, E., Leporrier, N., Lewin, P., Forestier, F., Muller, F.
Published in American journal of medical genetics. Part A (01.09.2003)
Published in American journal of medical genetics. Part A (01.09.2003)
Get full text
Journal Article
Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia
Taillandier, A., Cozien, E., Muller, F., Merrien, Y., Bonnin, E., Fribourg, C., Simon-Bouy, B., Serre, J.L., Bieth, E., Brenner, R., Cordier, M.P., De Bie, S., Fellmann, F., Freisinger, P., Hesse, V., Hennekam, R.C.M., Josifova, D., Kerzin-Storrar, L., Leporrier, N., Zabot, M.T., Mornet, E.
Published in Human mutation (01.03.2000)
Published in Human mutation (01.03.2000)
Get full text
Journal Article
Maternal serum pregnancy-associated plasma protein A (PAPP-A) but not pregnancy-specific β1-glycoprotein (SP1) is a useful second-trimester marker for fetal trisomy 18
Bersinger, N. A., Leporrier, N., Herrou, M., Leymarie, P.
Published in Prenatal diagnosis (01.06.1999)
Published in Prenatal diagnosis (01.06.1999)
Get full text
Journal Article
The usefulness of hCG and unconjugated oestriol in prenatal diagnosis of trisomy 18
Leporrier, N, Herrou, M, Herlicoviez, M, Leymarie, P
Published in British journal of obstetrics and gynaecology (01.04.1996)
Published in British journal of obstetrics and gynaecology (01.04.1996)
Get more information
Journal Article
De novo 15q13.3 microdeletion with cryptogenic west syndrome
Lacaze, Elodie, Gruchy, Nicolas, Penniello-Valette, Marie-José, Plessis, Ghislaine, Richard, Nicolas, Decamp, Mathieu, Mittre, Hervé, Leporrier, Nathalie, Andrieux, Joris, Kottler, Marie-Laure, Gerard, Marion
Published in American journal of medical genetics. Part A (01.10.2013)
Published in American journal of medical genetics. Part A (01.10.2013)
Get full text
Journal Article
Pregnancy outcomes in I88 French cases of prenatally diagnosed Klinefelter syndrome
GRUCHY, N, VIALARD, F, HERBAUT-GRAUX, M, TILL, M, LAYET, V, LEPORRIER, N, DECAMP, M, CHOISET, A, ROSSI, A, LE MEUR, N, MOIROT, H, YARDIN, C, BONNET-DUPEYRON, M. N, LESPINASSE, J
Published in Human reproduction (Oxford) (2011)
Get full text
Published in Human reproduction (Oxford) (2011)
Journal Article
Fetuses with Down's Syndrome detected by prenatal screening are more likely to abort spontaneously than fetuses with Down's Syndrome not detected by prenatal screening
Leporrier, Nathalie, Herrou, Michel, Morello, Rémy, Leymarie, Pierre
Published in BJOG : an international journal of obstetrics and gynaecology (01.01.2003)
Published in BJOG : an international journal of obstetrics and gynaecology (01.01.2003)
Get full text
Journal Article
Chromosomal prenatal diagnosis: study of 936 cases of intrauterine abnormalities after ultrasound assessment
Eydoux, P, Choiset, A, Le Porrier, N, Thépot, F, Szpiro-Tapia, S, Alliet, J, Ramond, S, Viel, J F, Gautier, E, Morichon, N
Published in Prenatal diagnosis (01.04.1989)
Published in Prenatal diagnosis (01.04.1989)
Get more information
Journal Article