Works matching IS 01973851 AND DT 2001 AND VI 21 AND IP 13

Results: 27

Short-rib polydactyly syndrome type III (Verma-Naumoff) in a third-trimester fetus with unusual associations of epiglottic hypoplasia, renal cystic dysplasia, pyelectasia and oligohydramnios.

Published in:

2001

By:

Chen, C P;
Tzen, C Y

Publication type:

Case Study

Preimplantation genetic diagnosis for familial amyloidotic polyneuropathy (FAP).

Published in:

2001

By:

Carvalho, F;
Sousa, M;
Fernandes, S;
Silva, J;
Saraiva, M J;
Barros, A

Publication type:

journal article

Cystic malformations of the posterior fossa.

Published in:

2001

By:

Bernard, J P;
Moscoso, G;
Renier, D;
Ville, Y

Publication type:

journal article

Descriptive information about Down syndrome: a content analysis of serum screening leaflets.

Published in:

2001

By:

Bryant, L D;
Murray, J;
Green, J M;
Hewison, J;
Sehmi, I;
Ellis, A

Publication type:

journal article

Prenatal diagnosis of pyruvate dehydrogenase deficiency using magnetic resonance imaging.

Published in:

2001

By:

Robinson, J N;
Norwitz, E R;
Mulkern, R;
Brown, S A;
Rybicki, F;
Tempany, C M

Publication type:

journal article

Maternal insertion of 18q11.2-q12.2 in 18p11.3 of the same chromosome analysed by microdissection and multicolour banding (MCB).

Published in:

2001

By:

Starke, H;
Senger, G;
Kossakiewicz, M;
Tittelbach, H;
Rau, D;
Rubtsov, N;
Trifonov, V;
Heller, A;
Hartmann, I;
Claussen, U;
Liehr, T

Publication type:

journal article

Karyotype, phenotype and parental origin in 19 cases of triploidy.

Published in:

2001

By:

Daniel, A;
Wu, Z;
Bennetts, B;
Slater, H;
Osborn, R;
Jackson, J;
Pupko, V;
Nelson, J;
Watson, G;
Cooke-Yarborough, C;
Loo, C

Publication type:

journal article

Increased fetal nuchal fold leading to prenatal diagnosis of ring chromosome 15.

Published in:

2001

By:

Liu, Y H;
Chang, S D;
Chen, F P

Publication type:

journal article

Significantly higher number of fetal cells in the maternal circulation of women with pre-eclampsia.

Published in:

2001

By:

Jansen, M W;
Korver-Hakkennes, K;
van Leenen, D;
Visser, W;
in 't Veld, P A;
de Groot, C J;
Wladimiroff, J W

Publication type:

journal article

Hydrops fetalis in three male fetuses of a female with incontinentia pigmenti.

Published in:

2001

By:

Dufke, A;
Vollmer, B;
Kendziorra, H;
Mackensen-Haen, S;
Orth, U;
Orlikowsky, T;
Gal, A

Publication type:

journal article

Improvement of mesenteric superior artery Doppler velocimetry by amnio-infusion in fetal gastroschisis.

Published in:

Prenatal Diagnosis, 2001, v. 21, n. 13, p. 1171, doi. 10.1002/pd.221

By:

Volumenie, Jean-Luc;
de Lagausie, Pascal;
Guibourdenche, Jean;
Oury, Jean-François;
Vuillard, Edith;
Saizou, Carole;
Luton, Dominique

Publication type:

Article

Dehydrated hereditary stomatocytosis: a cause of prenatal ascites.

Published in:

Prenatal Diagnosis, 2001, v. 21, n. 13, p. 1114, doi. 10.1002/pd.180

By:

Grootenboer, Sabine;
Barro, Claire;
Cynober, Thérèse;
Olivier Schischmanoff, P.;
Ayoubi, Jean-Marc;
Tchernia, Gil;
Delaunay, Jean;
Pons, Jean-Claude

Publication type:

Article

Prenatal diagnosis of hydrocephalus-stenosis of the aqueduct of Sylvius by ultrasound in the first trimester of pregnancy. Report of two cases.

Published in:

Prenatal Diagnosis, 2001, v. 21, n. 13, p. 1129, doi. 10.1002/pd.184

By:

Senat, M. V.;
Bernard, J. P.;
Delezoide, A.;
Saugier-Veber, P.;
Hillion, Y.;
Roume, J.;
Ville, Y.

Publication type:

Article

Identification of triploid trophoblast cells in peripheral blood of a woman with a partial hydatidiform molar pregnancy.

Published in:

Prenatal Diagnosis, 2001, v. 21, n. 13, p. 1142, doi. 10.1002/pd.190

By:

van Wijk, I. J.;
de Hoon, A. C.;
Griffioen, S.;
Mulders, M. A. M.;
Tjoa, M. L.;
van Vugt, J. M. G.;
Oudejans, C. B. M.

Publication type:

Article

Prenatal diagnosis of glutaric acidemias.

Published in:

Prenatal Diagnosis, 2001, v. 21, n. 13, p. 1167, doi. 10.1002/pd.201

By:

Goodman, Stephen I.

Publication type:

Article

Maternal serum screening marker levels in consanguineous couples.

Published in:

Prenatal Diagnosis, 2001, v. 21, n. 13, p. 1177, doi. 10.1002/pd.199

By:

Khan, N. R.;
Saeed, M.;
Cuckle, H. S.

Publication type:

Article

Duplication of chromosome 2 in association with ventriculomegaly - a case report.

Published in:

Prenatal Diagnosis, 2001, v. 21, n. 13, p. 1169, doi. 10.1002/pd.216

By:

Martin, W. L.;
Pretlove, S.;
Mercer, A.;
Platt, C. C.;
Roberts, E.;
Davison, V.;
Kilby, M. D.

Publication type:

Article

Prenatal diagnosis of kyphomelic dysplasia.

Published in:

Prenatal Diagnosis, 2001, v. 21, n. 13, p. 1146, doi. 10.1002/pd.193

By:

Guala, A.;
Biroli, E.;
Bassini, P.;
Botta, G.;
Licata, D.;
Di Cara, G.;
Franceschini, D.;
Franceschini, P.

Publication type:

Article

Association between congenital foot anomalies and gestational age at amniocentesis.

Published in:

Prenatal Diagnosis, 2001, v. 21, n. 13, p. 1137, doi. 10.1002/pd.188

By:

Yoon, G.;
Chernos, J.;
Sibbald, B.;
Lowry, R.B.;
Connors, G.;
Simrose, R.;
Bernier, F.P.

Publication type:

Article

Prenatal diagnosis of trisomy 20 by chorionic villus sampling (CVS): a case report with long-term outcome.

Published in:

Prenatal Diagnosis, 2001, v. 21, n. 13, p. 1111, doi. 10.1002/pd.169

By:

Steinberg Warren, Nancy;
Soukup, Shirley;
King, Jennifer L.;
St. J. Dignan, Peter

Publication type:

Article

Multicolour spectral karyotyping for complex chromosomal rearrangements in repeated abortion or congenital anomalies.

Published in:

Prenatal Diagnosis, 2001, v. 21, n. 13, p. 1123, doi. 10.1002/pd.183

By:

Tanemura, Mitsuyo;
Suzumori, Kaoru;
Nishikawa, Naomi;
Ishihara, Yoshimori

Publication type:

Article

The diagnostic performance of cytogenetic investigation in amniotic fluid cells and chorionic villi.

Published in:

Prenatal Diagnosis, 2001, v. 21, n. 13, p. 1150, doi. 10.1002/pd.194

By:

Los, Frans J.;
van den Berg, Cardi;
Wildschut, Hajo I. J.;
Brandenburg, Helen;
den Hollander, Nicolette S.;
Schoonderwaldt, Ernst M.;
Pijpers, Leen;
Jan H. Galjaard, Robert;
Van Opstal, Diane

Publication type:

Article

Sequential first and second trimester screening tests: correlation of the markers' levels in normal versus Down syndrome affected pregnancies.

Published in:

Prenatal Diagnosis, 2001, v. 21, n. 13, p. 1175, doi. 10.1002/pd.198

By:

Maymon, R.;
Bergman, M.;
Segal, S.;
Dreazen, E.;
Weinraub, Z.;
Herman, A.

Publication type:

Article

Minor sonographic signs of trisomy 21 at 15-20 weeks' gestation in fetuses born without malformations: a prospective study.

Published in:

Prenatal Diagnosis, 2001, v. 21, n. 13, p. 1163, doi. 10.1002/pd.197

By:

Viora, E.;
Errante, G.;
Bastonero, S.;
Sciarrone, A.;
Campogrande, M.

Publication type:

Article

Split-hand/split-foot malformation with paternal mutation in the p63 gene.

Published in:

Prenatal Diagnosis, 2001, v. 21, n. 13, p. 1119, doi. 10.1002/pd.181

By:

Witters, Ingrid;
Van Bokhoven, Hans;
Goossens, A.;
Van Assche, Frans-André;
Fryns, Jean-Pierre

Publication type:

Article

Split notochord syndrome - prenatal ultrasonographic diagnosis.

Published in:

Prenatal Diagnosis, 2001, v. 21, n. 13, p. 1159, doi. 10.1002/pd.196

By:

Almog, B.;
Leibovitch, L.;
Achiron, R.

Publication type:

Article

Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus-Merzbacher disease.

Published in:

Prenatal Diagnosis, 2001, v. 21, n. 13, p. 1133, doi. 10.1002/pd.186

By:

Inoue, Ken;
Kanai, Makoto;
Tanabe, Yuzo;
Kubota, Takeo;
Kashork, Catherine D.;
Wakui, Keiko;
Fukushima, Yoshimitsu;
Lupski, James R.;
Shaffer, Lisa G.

Publication type:

Article