Works matching IS 01973851 AND DT 1999 AND VI 19 AND IP 1

Results: 21

Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literature.

Published in:

Prenatal Diagnosis, 1999, v. 19, n. 1, p. 49, doi. 10.1002/(SICI)1097-0223(199901)19:1<49::AID-PD450>3.0.CO;2-C

By:

Faivre, L.;
Morichon-Delvallez, N.;
Viot, G.;
Martinovic, J.;
Pinson, M. P.;
Aubry, J. P.;
Raclin, V.;
Edery, P.;
Dumez, Y.;
Munnich, A.;
Vekemans, M.

Publication type:

Article

Prenatal diagnosis of Smith-Lemli-Opitz syndrome in a pregnancy with low maternal serum oestriol and a sex-reversed fetus.

Published in:

1999

By:

Bick,, D. P.;
McCorkle, D.;
Stanley, W. S.;
Stern, H. J.;
Staszak, P.;
Berkovitz, G. D.;
Meyers, C. M.;
Kelley,, R. I.

Publication type:

journal article

'Identical' twins with discordant karyotypes.

Published in:

1999

By:

Nieuwint, Aggie;
Van Zalen-Sprock, Rieteke;
Hummel, Pieter;
Pals, Gerard;
Van Vugt, John;
Van Der Harten, Hans;
Heins, Yvonne;
Madan, Kamlesh;
Nieuwint, A;
Van Zalen-Sprock, R;
Hummel, P;
Pals, G;
Van Vugt, J;
Van Der Harten, H;
Heins, Y;
Madan, K

Publication type:

journal article

Prenatal molecular diagnosis of Wiskott-Aldrich syndrome by direct mutation analysis.

Published in:

Prenatal Diagnosis, 1999, v. 19, n. 1, p. 36, doi. 10.1002/(SICI)1097-0223(199901)19:1<36::AID-PD458>3.0.CO;2-V

By:

Giliani, S.;
Fiorini, M.;
Mella, P.;
Candotti, F.;
Schumacher, R. F.;
Wengler, G. S.;
Lalatta, F.;
Fasth, A.;
Badolato, R.;
Ugazio, A. G.;
Albertini, A.;
Notarangelo, L. D.

Publication type:

Article

Prenatal diagnosis of hepatic mesenchymal hamartoma.

Published in:

Prenatal Diagnosis, 1999, v. 19, n. 1, p. 81, doi. 10.1002/(SICI)1097-0223(199901)19:1<81::AID-PD469>3.0.CO;2-H

By:

Dickinson,, Jan E.;
Knowles, Simon;
Phillips, John M.

Publication type:

Article

The prenatal diagnosis of X-linked adrenoleukodystrophy.

Published in:

1999

By:

Moser, Ann B.;
Moser, Hugo W.;
Moser, A B;
Moser, H W

Publication type:

journal article

First-trimester biochemical markers for Down syndrome.

Published in:

1999

By:

Casals, Elena;
Aibar, Carlos;
Martínez, Josep Maria;
Borrell, Antoni;
Soler, Anna;
Ojuel, Julia;
Ballesta, Antonio Manuel;
Fortuny, Albert;
Casals, E;
Aibar, C;
Martínez, J M;
Borrell, A;
Soler, A;
Ojuel, J;
Ballesta, A M;
Fortuny, A

Publication type:

journal article

Molecular exclusion of haemoglobin SD disease by prenatal diagnosis.

Published in:

Prenatal Diagnosis, 1999, v. 19, n. 1, p. 58, doi. 10.1002/(SICI)1097-0223(199901)19:1<58::AID-PD453>3.0.CO;2-1

By:

Fodor, Flora H.;
Eng, Christine M.

Publication type:

Article

Pitfalls in prenatal diagnosis of DMD due to placental mosaicism of the X-chromosomes: prenatal and postnatal findings in a fetus with a deletion of exons 67-71 of the dystrophin gene.

Published in:

1999

By:

Vondran, Sigrid;
Edelmann, Jeanett;
Holland, Heidrun;
Wolf, Claudia;
Strenge, Sibylle;
Thamm, Barbara;
Thiele, Hannelore;
Froster, Ursula G.;
Vondran, S;
Edelmann, J;
Holland, H;
Wolf, C;
Strenge, S;
Thamm, B;
Thiele, H;
Froster, U G

Publication type:

journal article

Prenatal diagnosis of thanatophoric dysplasia by mutational analysis of the fibroblast growth factor receptor 3 gene and a proposed correction of previously published PCR results.

Published in:

1999

By:

Sawai, Hideaki;
Komori, Shinji;
Ida, Akinori;
Henmi, Takashi;
Bessho, Takefumi;
Koyama, Koji;
Sawai, H;
Komori, S;
Ida, A;
Henmi, T;
Bessho, T;
Koyama, K

Publication type:

journal article

Prenatal diagnosis of thrombocytopenia absent radius (TAR) syndrome and vaginal delivery.

Published in:

1999

By:

Shelton, Stuart D.;
Paulyson, Kristin;
Kay, Helen H.;
Shelton, S D;
Paulyson, K;
Kay, H H

Publication type:

journal article

Prenatal genotyping of the Duffy blood group system by allele-specific polymerase chain reaction.

Published in:

1999

By:

Hessner, Martin J.;
Pircon, Richard A.;
Johnson, Susan T.;
Luhm, Robert A.;
Hessner, M J;
Pircon, R A;
Johnson, S T;
Luhm, R A

Publication type:

journal article

Informed consent to serum screening for Down syndrome: are women given adequate information?

Published in:

1999

By:

Gekas, Jean;
Gondry, Jean;
Mazur, Severine;
Cesbron, Paul;
Thepot, François;
Gekas, J;
Gondry, J;
Mazur, S;
Cesbron, P;
Thepot, F

Publication type:

journal article

Prenatal finding of a fetus with mosaicism for two balanced de novo chromosome rearrangements.

Published in:

1999

By:

Hastings, R. J.;
Watson, S. G.;
Chitty, L. S.

Publication type:

journal article

Comparison of cell cultures, chromosome quality and karyotypes obtained after chorionic villus sampling and early amniocentesis with filter technique.

Published in:

1999

By:

Sundberg, K.;
Lundsteen, C.;
Philip, J.

Publication type:

journal article

Prenatal interphase detection by FISH of a sex chromosome mosaicism when cytogenetics reports a pseudomosaicism.

Published in:

Prenatal Diagnosis, 1999, v. 19, n. 1, p. 25, doi. 10.1002/(SICI)1097-0223(199901)19:1<25::AID-PD451>3.0.CO;2-J

By:

Pettenati, Mark J.;
Berry, Margaret N.;
Hart, P. Suzanne;
Rao, P. Nagesh;
Lantz, Patrick;
Rosnes, Jon

Publication type:

Article

Trisomy 15 CPM: probable origins, pregnancy outcome and risk of fetal UPD.

Published in:: Prenatal Diagnosis, 1999, v. 19, n. 1, p. 29, doi. 10.1002/(SICI)1097-0223(199901)19:1<29::AID-PD462>3.0.CO;2-B
Publication type:: Article

Genotyping of a case of tyrosinaemia type I with normal level of succinylacetone in amniotic fluid.

Published in:

1999

By:

Poudrier, Jacques;
Lettre, Francine;
St-Louis, Maryse;
Tanguay, Robert M.;
Poudrier, J;
Lettre, F;
St-Louis, M;
Tanguay, R M

Publication type:

journal article

Prenatal exclusion of UPD from cytogenetic slides: a simple method.

Published in:

Prenatal Diagnosis, 1999, v. 19, n. 1, p. 87, doi. 10.1002/(SICI)1097-0223(199901)19:1<87::AID-PD466>3.0.CO;2-K

By:

Gualandi, F.;
Sensi, A.;
Calabrese, O.;
Gruppioni, R.;
Pittalis, M. C.;
Calzolari, E.

Publication type:

Article

Assaying the granulocyte-macrophage colony-stimulating factor (GM-CSF) as a mitogen of immature cells in fetal blood cultures.

Published in:

Prenatal Diagnosis, 1999, v. 19, n. 1, p. 17, doi. 10.1002/(SICI)1097-0223(199901)19:1<17::AID-PD448>3.0.CO;2-0

By:

Costa, D.;
Borrell, A.;
Jou, J. M.;
Besón, I.;
Soler, A.;
Carrió, A.;
Margarit, E.;
Caballín, R.;
Ballesta, F.;
Fortuny, A.

Publication type:

Article

Stability of free β-subunit in routine practice for trisomy 21 maternal serum screening.

Published in:

Prenatal Diagnosis, 1999, v. 19, n. 1, p. 85, doi. 10.1002/(SICI)1097-0223(199901)19:1<85::AID-PD459>3.0.CO;2-E

By:

Muller, Françoise;
Doche, Christophe;
Ngo, Sandrine;
Faïna, Sébastien;
Charvin, Marie-Antoinette;
Rebiffé, Maryneige;
Taguel, Valérie;
Dingeon, Bernard

Publication type:

Article