Works matching IS 01973851 AND DT 1992 AND VI 12

Results: 196

Prenatal detection of 45,X/46,XX/47,XXX mosaicism through amniocentesis: Mosaicism confirmed in cord blood, amnion, and chorion.

Published in:

Prenatal Diagnosis, 1992, v. 12, n. 12, p. 1043, doi. 10.1002/pd.1970121210

By:

Schwartz, S.;
Raffel, L. J.

Publication type:

Article

Prenatal diagnosis of Pallister-Killian syndrome: Resolution of cytogenetic ambiguity by use of fluorescent in situ hybridization.

Published in:

Prenatal Diagnosis, 1992, v. 12, n. 12, p. 985, doi. 10.1002/pd.1970121203

By:

McLean, S.;
Stanley, W.;
Stern, H.;
Fonda-Allen, J.;
Devine, G.;
Ellingham, T.;
Rosenbaum, K.

Publication type:

Article

Prenatal detection of multiple copies of a familial supernumerary marker chromosome.

Published in:

Prenatal Diagnosis, 1992, v. 12, n. 12, p. 1067, doi. 10.1002/pd.1970121214

By:

Wolstenholme, J.;
Brummitt, J. A.;
English, C. J.;
Goodship, J. A.

Publication type:

Article

Fetal presentation of morquio disease type A.

Published in:

Prenatal Diagnosis, 1992, v. 12, n. 12, p. 1019, doi. 10.1002/pd.1970121207

By:

Beck, Michael;
Braun, Susanne;
Coerdt, Wiltrud;
Merz, Eberhard;
Young, Elisabeth;
Sewell, Adrian C.

Publication type:

Article

Prenatal diagnosis of tetrasomy 12p by in situ hybridization: Varying levels of mosaicism in different fetal tissues.

Published in:

Prenatal Diagnosis, 1992, v. 12, n. 12, p. 979, doi. 10.1002/pd.1970121202

By:

Blancato, J. K.;
Hunt, M.;
George, J.;
Katz, J.;
Meck, J. M.

Publication type:

Article

Second-trimester cancer antigen 125 and Down's syndrome.

Published in:

Prenatal Diagnosis, 1992, v. 12, n. 12, p. 1062, doi. 10.1002/pd.1970121213

By:

Van Blerk, M.;
Smitz, J.;
De Catte, L.;
Kumps, C.;
Van Der Elst, J.;
Van Steirteghem, A. C.

Publication type:

Article

Mucolipidosis type IV: Accumulation of phospholipids and gangliosides in cultured amniotic cells. A tool for prenatal diagnosis.

Published in:

Prenatal Diagnosis, 1992, v. 12, n. 12, p. 1037, doi. 10.1002/pd.1970121209

By:

Zeigler, M.;
Bargal, R.;
Suri, V.;
Meidan, B.;
Bach, G.

Publication type:

Article

Masthead.

Published in:: Prenatal Diagnosis, 1992, v. 12, n. 12, p. fmi, doi. 10.1002/pd.1970121201
Publication type:: Article

Prenatal diagnosis of Huntington's disease (HD): Experiences with six cases and PCR.

Published in:

Prenatal Diagnosis, 1992, v. 12, n. 12, p. 1055, doi. 10.1002/pd.1970121212

By:

Thies, Ulrike;
Zühlke, Christine;
Bockel, Barbara;
Schröder, Kirsten

Publication type:

Article

Trisomy 16 confined to the placenta.

Published in:

Prenatal Diagnosis, 1992, v. 12, n. 12, p. 1001, doi. 10.1002/pd.1970121205

By:

Post, J. G.;
Nijhuis, J. G.

Publication type:

Article

Porencephalic cyst after chorionic villus sampling.

Published in:

Prenatal Diagnosis, 1992, v. 12, n. 12, p. 1074, doi. 10.1002/pd.1970121216

By:

Fabris, Claudio;
Licata, Domenico;
Garzena, Ettore;
Gandione, Marina;
Mostert, Michael

Publication type:

Article

The outcome of pregnancy and prenatal chromosomal diagnosis of fetuses in couples including a translocation carrier.

Published in:

Prenatal Diagnosis, 1992, v. 12, n. 12, p. 1009, doi. 10.1002/pd.1970121206

By:

Uehara, Shigeki;
Takabayashi, Toshifumi;
Okamura, Kunihiro;
Yajima, Akira

Publication type:

Article

Prenatal diagnosis of distal arthrogryposis type I by ultrasonography.

Published in:

Prenatal Diagnosis, 1992, v. 12, n. 12, p. 1047, doi. 10.1002/pd.1970121211

By:

Bui, T.-H.;
Lindholm, H.;
Demir, N.;
Thomassen, P.

Publication type:

Article

Fetal granulocytes in maternal venous blood detected by in situ hybridization.

Published in:

Prenatal Diagnosis, 1992, v. 12, n. 12, p. 993, doi. 10.1002/pd.1970121204

By:

Wessman, Maija;
Ylinen, Kari;
Knuutila, Sakari

Publication type:

Article

Non-radioactive assay of AFP, hCG, and uE3 from dried blood specimens: A low-cost alternative for maternal screening for trisomy 21.

Published in:

Prenatal Diagnosis, 1992, v. 12, n. 12, p. 1073, doi. 10.1002/pd.1970121215

By:

Verloes, A.;
Schoos, R.;
Koulischer, L.

Publication type:

Article

Reproductive behaviour and prenatal diagnosis following genetic termination of pregnancy in women of advanced maternal age.

Published in:

Prenatal Diagnosis, 1992, v. 12, n. 12, p. 1031, doi. 10.1002/pd.1970121208

By:

Brandenburg, H.;
De Koning, W.;
Jahoda, M. G. J.;
Stijnen, Th.;
De Ridder, M. A. J.;
Sachs, E. S.;
Wladimiroff, J. W.

Publication type:

Article

Normal karyotype in cultured chorionic villus cells, but mosaicism in amniotic and fetal cells.

Published in:

1992

By:

Birkebaek, N H;
Andreasen, E E;
Ramsing, M;
Henriques, U V;
Bruun-Petersen, G

Publication type:

journal article

A simple electrophoretic procedure for fetal diagnosis of beta-thalassaemia due to short deletions.

Published in:

1992

By:

Faà, V;
Rosatelli, M C;
Sardu, R;
Meloni, A;
Toffoli, C;
Cao, A

Publication type:

journal article

Prenatal diagnosis of giant cystic hygroma: prognosis, counselling, and management; case presentation and review of the recent literature.

Published in:

1992

By:

Thomas, Ronald L.;
Thomas, R L

Publication type:

journal article

Prenatal diagnosis of second-trimester congenital varicella syndrome.

Published in:

1992

By:

Pons, Jean-Claude;
Rozenberg, Flore;
Imbert, Marie-Claire;
Lebon, Pierre;
Olivennes, François;
Lelaidier, Christophe;
Strub, Nadia;
Vial, Michèle;
Frydman, René;
Pons, J C;
Rozenberg, F;
Imbert, M C;
Lebon, P;
Olivennes, F;
Lelaidier, C;
Strub, N;
Vial, M;
Frydman, R

Publication type:

Case Study

Cystic hygroma and congenital diaphragmatic hernia: early prenatal sonographic evaluation of Fryns' syndrome.

Published in:

1992

By:

Bulas, Dorothy I.;
Saal, Howard M.;
Allen, Jill Fonda;
Kapur, Sudesh;
Nies, Barbara M.;
Newman, Kurt;
Bulas, D I;
Saal, H M;
Allen, J F;
Kapur, S;
Nies, B M;
Newman, K

Publication type:

journal article

Normal karyotype in cultured chorionic villus cells, but mosaicism in amniotic and fetal cells.

Published in:

Prenatal Diagnosis, 1992, v. 12, n. 11, p. 951, doi. 10.1002/pd.1970121115

By:

Birkebæk, N. H.;
Andreasen, E. E.;
Ramsings, M.;
Henriques, U. V.;
Bruun-Petersen, G.

Publication type:

Article

Rare non-mosaic trisomies in chorionic villus tissue not confirmed at amniocentesis.

Published in:

1992

By:

Dorfmann, Andrew D.;
Perszyk, Jeane;
Robinson, Patricia;
Black, Susan H.;
Schulman, Joseph D.;
Dorfmann, A D;
Perszyk, J;
Robinson, P;
Black, S H;
Schulman, J D

Publication type:

journal article

First-trimester prenatal exclusion of PIBIDS syndrome with normal DNA excision repair on chorionic villus cells.

Published in:

1992

By:

Savary, J. B.;
Vasseur, F.;
Vinatier, D.;
Manouvrier, S.;
Deminatti, M. M.

Publication type:

Letter

Prenatal identification of a 45,X/46,Xder(Y) mosaicism and confirmation by high resolution cytogenetics and fluorescence in situ hybridization.

Published in:

1992

By:

Qu, Jingyi;
Dallaire, Louis;
Fetni, Raouf;
Richer, Claude-Lise;
Qu, J;
Dallaire, L;
Fetni, R;
Richer, C L

Publication type:

journal article

Use of fluorescence in situ hybridization to detect trisomy 18 in the direct preparation of a chorionic villus biopsy.

Published in:

1992

By:

Park, Vicki Murtif;
Tharapel, Avirachan T.;
Elias, Sherman;
Park, V M;
Tharapel, A T;
Elias, S

Publication type:

Case Study

Prenatal exclusion of haemophilia A and carrier testing by direct detection of a disease lesion.

Published in:

1992

By:

Schwartz, Marianne;
Cooper, David N.;
Millart, David S.;
Kakkar, Vijay V.;
Scheibel, Elma;
Schwartz, M;
Cooper, D N;
Millar, D S;
Kakkar, V V;
Scheibel, E

Publication type:

journal article

Prenatal diagnosis of monosomy 18 and ring chromosome 18 mosaicism.

Published in:

1992

By:

Eiben, B.;
Unger, M.;
Stoltenberg, G.;
Rutt, G.;
Goebel, R.;
Meyer, A.;
Gamerdinger, U.;
Hammans, W.;
Hansen, S.;
Hauss, H.;
Vogel, M.;
Schwanitz, G.

Publication type:

journal article

Prenatal diagnosis of spina bifida aperta after first-trimester valproate exposure.

Published in:

1992

By:

Omtzigt, Juliette G. C.;
Los, Frans J.;
Hagenaars, Adriana M.;
Stewart, Patricia A.;
Sachs, Eva S.;
Lindhout, Dick;
Omtzigt, J G;
Los, F J;
Hagenaars, A M;
Stewart, P A;
Sachs, E S;
Lindhout, D

Publication type:

journal article

Chromosomal abnormalities associated with a single umbilical artery.

Published in:

1992

By:

Khong, T. Y.;
George, K.

Publication type:

journal article

Potential co-existence of haemophilia A and B carrier status in two sisters.

Published in:

1992

By:

Aguilar-Martinez, Patricia;
Navarro, Robert;
Schved, J. François;
Gris, J. Christophe;
Bonnet, Hubert;
Demaille, Jacques;
Aguilar-Martinez, P;
Navarro, R;
Schved, J F;
Gris, J C;
Bonnet, H;
Demaille, J

Publication type:

Case Study

Announcement.

Published in:: Prenatal Diagnosis, 1992, v. 12, n. 11, p. i, doi. 10.1002/pd.1970121102
Publication type:: Article

Analysis of chromosome 21 copy number in uncultured amniocytes by fluorescence in situ hybridization using a cosmid contig.

Published in:

1992

By:

Zheng, Y. L.;
Ferguson-Smith, M. A.;
Warner, J. P.;
Erguson-Smith, M. E.;
Sargent, C. A.;
Carter, N. P.;
Ferguson-Smith, M E

Publication type:

journal article

Screening for fetal Down syndrome with maternal serum hCG and oestriol: a prospective study.

Published in:

1992

By:

Herrou, Michel;
Leporrier, Nathalie;
Leymarie, Pierre;
Herrou, M;
Leporrier, N;
Leymarie, P

Publication type:

journal article

Spontaneous cessation of umbilical blood flow in the acardiac fetus of a twin pregnancy.

Published in:

Prenatal Diagnosis, 1992, v. 12, n. 8, p. 689, doi. 10.1002/pd.1970120810

By:

Cox, M.;
Murphy, K.;
Ryan, G.;
Kingdom, J.;
Whittle, M.;
McNay, Margaret

Publication type:

Article

Prenatal diagnosis of metabolic diseases on chorionic villi obtained before the ninth week of pregnancy.

Published in:

1992

By:

Minelli, A.;
Piantanida, M.;
Simoni, G.;
Rossella, F.;
Romitti, L.;
Brambati, B.;
Danesino, C.

Publication type:

journal article

Poster sessions.

Published in:: Prenatal Diagnosis, 1992, v. 12, p. S40, doi. 10.1002/pd.1970121303
Publication type:: Article

Abstracts of oral presentations.

Published in:: Prenatal Diagnosis, 1992, v. 12, p. S1, doi. 10.1002/pd.1970121302
Publication type:: Article

Prospective intervention trial of a screening protocol to identify fetal trisomy 18 using maternal serum alpha-fetoprotein, unconjugated oestriol, and human chorionic gonadotropin.

Published in:

1992

By:

Palomaki, Glenn E.;
Knight, George J.;
Haddow, James E.;
Canick, Jacob A.;
Saller, Devereux N.;
Panizza, Diane S.;
Palomaki, G E;
Knight, G J;
Haddow, J E;
Canick, J A;
Saller, D N Jr;
Panizza, D S

Publication type:

journal article

Masthead.

Published in:: Prenatal Diagnosis, 1992, v. 12, n. 11, p. fmi, doi. 10.1002/pd.1970121101
Publication type:: Article

Prenatal diagnosis of Roberts syndrome.

Published in:

1992

By:

Hirschhorn, K.;
Kaffe, S.

Publication type:

commentary

Prenatal diagnosis of Chediak-Higashi syndrome.

Published in:

1992

By:

Diukman, Rony;
Tanigawara, Shingo;
Cowan, Morton J.;
Golbus, Mitchell S.;
Diukman, R;
Tanigawara, S;
Cowan, M J;
Golbus, M S

Publication type:

journal article

Neonatal alloimmune thrombocytopenia due to anti-P1A1 (anti-HPA-1a): importance of paternal and fetal platelet typing for assessment of fetal risk.

Published in:

1992

By:

Lipitz, S.;
Ryan, G.;
Murphy, M. F.;
Robson, S. C.;
Haeusler, M. C. H.;
Metcalfe, P.;
Kelsey, H.;
Rodeck, C. H.;
Haeusler, M C

Publication type:

journal article

A simple electrophoretic procedure for fetal diagnosis of β-thalassaemia due to short deletions.

Published in:

Prenatal Diagnosis, 1992, v. 12, n. 11, p. 903, doi. 10.1002/pd.1970121109

By:

Faà, V.;
Rosatelli, M. C.;
Sardu, R.;
Meloni, A.;
Toffoli, C.;
Cao, A.

Publication type:

Article

Fumarylacetoacetase activity in cultured and non-cultured chorionic villus cells, and assay in two high-risk pregnancies.

Published in:

Prenatal Diagnosis, 1992, v. 12, n. 10, p. 807, doi. 10.1002/pd.1970121006

By:

McCormack, M. J.;
Walker, E.;
Gray, R. G.;
Newton, J. R.;
Green, A.

Publication type:

Article

Appearance of excessive lipids in amniotic fluid as a sign of fetal hyperlipidaemia.

Published in:

Prenatal Diagnosis, 1992, v. 12, n. 10, p. 851, doi. 10.1002/pd.1970121013

By:

Lurie, S.;
Hagay, Z.

Publication type:

Article

Fetal serology in maternal HSV encephalitis.

Published in:

Prenatal Diagnosis, 1992, v. 12, n. 10, p. 855, doi. 10.1002/pd.1970121017

By:

Anteby, E.;
Rechest, A.;
Lavy, Y.;
Yagel, S.

Publication type:

Article

Prenatal diagnosis for the cystic fibrosis mutation 1717-1, G→A using arms.

Published in:

Prenatal Diagnosis, 1992, v. 12, n. 10, p. 845, doi. 10.1002/pd.1970121012

By:

Miedzybrodzka, Z. H.;
Kelly, K. F.;
Davidson, M.;
Little, S.;
Shrimptons, A. E.;
Dean, J. C. S.;
Haites, N. E.

Publication type:

Article

Masthead.

Published in:: Prenatal Diagnosis, 1992, v. 12, n. 10, p. fmi, doi. 10.1002/pd.1970121001
Publication type:: Article

Second-trimester maternal serum immunoreactive inhibin as a marker for fetal Down's syndrome.

Published in:

Prenatal Diagnosis, 1992, v. 12, n. 10, p. 801, doi. 10.1002/pd.1970121005

By:

Van Lith, J. M. M.;
Pratt, J. J.;
Beekhuis, J. R.;
Mantingh, A.

Publication type:

Article