Works matching IS 01973851 AND DT 2001 AND VI 21 AND IP 12

Results: 27

Prenatal diagnosis of mosaicism for deletion 22q13.3.

Published in:

Prenatal Diagnosis, 2001, v. 21, n. 12, p. 1100, doi. 10.1002/pd.195

By:

Phelan, Mary C.;
Brown, Elizabeth F.;
Curtis Rogers, R.

Publication type:

Article

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

Published in:

Prenatal Diagnosis, 2001, v. 21, n. 12, p. 1034, doi. 10.1002/pd.164

By:

Daniel, Art;
Wu, Zhanhe;
Bennetts, Bruce;
Slater, Howard;
Osborn, Robert;
Jackson, Julianne;
Pupko, Vladimir;
Nelson, John;
Watson, Geoff;
Cooke-Yarborough, Claire;
Loo, Christine

Publication type:

Article

Maternal serum screening marker levels in consanguineous couples.

Published in:

2001

By:

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

Publication type:

Letter

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

Published in:

2001

By:

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

Publication type:

journal article

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

Published in:

2001

By:

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

Publication type:

research

Prenatal diagnosis of glutaric acidemias.

Published in:

2001

By:

Goodman, S I

Publication type:

journal article

Split notochord syndrome - prenatal ultrasonographic diagnosis.

Published in:

2001

By:

Almog, B;
Leibovitch, L;
Achiron, R

Publication type:

journal article

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

Published in:

2001

By:

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

Publication type:

journal article

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

Published in:

2001

By:

Inoue, K;
Kanai, M;
Tanabe, Y;
Kubota, T;
Kashork, C D;
Wakui, K;
Fukushima, Y;
Lupski, J R;
Shaffer, L G

Publication type:

journal 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:

2001

By:

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

Publication type:

journal article

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

Published in:

2001

By:

Tanemura, M;
Suzumori, K;
Nishikawa, N;
Ishihara, Y

Publication type:

journal article

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

Published in:

2001

By:

Witters, I;
Van Bokhoven, H;
Goossens, A;
Van Assche, F A;
Fryns, J P

Publication type:

journal article

Current Awareness.

Published in:: Prenatal Diagnosis, 2001, v. 21, n. 12, p. 1103, doi. 10.1002/pd.17
Publication type:: Article

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

Published in:

Prenatal Diagnosis, 2001, v. 21, n. 12, p. 1019, doi. 10.1002/pd.165

By:

Dufke, Andreas;
Vollmer, Brigitte;
Kendziorra, Heidemarie;
Mackensen-Haen, Susanne;
Orth, Ulrike;
Orlikowsky, Thorsten;
Gal, Andreas

Publication type:

Article

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

Published in:

Prenatal Diagnosis, 2001, v. 21, n. 12, p. 1022, doi. 10.1002/pd.176

By:

Jansen, Mieke W. J. C.;
Korver-Hakkennes, Karin;
van Leenen, Dik;
Visser, Willy;
in 't Veld, Peter A.;
de Groot, Christianne J. M.;
Wladimiroff, Juriy W.

Publication type:

Article

Prenatal diagnosis of pyruvate dehydrogenase deficiency using magnetic resonance imaging.

Published in:

Prenatal Diagnosis, 2001, v. 21, n. 12, p. 1053, doi. 10.1002/pd.187

By:

Robinson, Julian N.;
Norwitz, Errol R.;
Mulkern, Robert;
Brown, Stephen A.;
Rybicki, Frank;
Tempany, Clare M. C.

Publication type:

Article

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:

Prenatal Diagnosis, 2001, v. 21, n. 12, p. 1101, doi. 10.1002/pd.182

By:

Chen, Chih-Ping;
Tzen, Chi-Yuan

Publication type:

Article

Preimplantation genetic diagnosis (PGD), a collaborative activity of clinical genetic departments and IVF centres.

Published in:

Prenatal Diagnosis, 2001, v. 21, n. 12, p. 1086, doi. 10.1002/pd.249

By:

Geraedts, Joep P. M.;
Harper, Joyce;
Braude, Peter;
Sermon, Karen;
Veiga, Anna;
Gianaroli, Luca;
Agan, Noelle;
Munné, Santiago;
Gitlin, Sue;
Blenow, Elisabeth;
de Boer, Kylie;
Hussey, Nicole;
Kanavakis, Emmanuel;
Lee, Soo-Huan;
Viville, Stéphane;
Krey, Lewis;
Ray, Pierre;
Emiliani, Serena;
Hsien Liu, Yung;
Vermeulen, Stefan

Publication type:

Article

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

Published in:

Prenatal Diagnosis, 2001, v. 21, n. 12, p. 1031, doi. 10.1002/pd.168

By:

Liu, Yu-Hung;
Dyh Chang, Shuenn;
Chen, Fang-Ping

Publication type:

Article

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

Published in:

Prenatal Diagnosis, 2001, v. 21, n. 12, p. 1057, doi. 10.1002/pd.179

By:

Bryant, Louise D.;
Murray, Jenni;
Green, Josephine M.;
Hewison, Jenny;
Sehmi, Indera;
Ellis, Andy

Publication type:

Article

Management of prenatally detected trisomy 8 mosaicism.

Published in:

Prenatal Diagnosis, 2001, v. 21, n. 12, p. 1075, doi. 10.1002/pd.215

By:

van Haelst, M. M.;
Van Opstal, D.;
Lindhout, D.;
Los, F. J.

Publication type:

Article

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

Published in:

Prenatal Diagnosis, 2001, v. 21, n. 12, p. 1049, doi. 10.1002/pd.192

By:

Starke, Heike;
Senger, Gabriele;
Kossakiewicz, Maria;
Tittelbach, Hanne;
Rau, Dorothea;
Rubtsov, Nikolai;
Trifonov, Vladimir;
Heller, Anita;
Hartmann, Isabell;
Claussen, Uwe;
Liehr, Thomas

Publication type:

Article

Double locus analysis of chromosome 21 for preimplantation genetic diagnosis of aneuploidy.

Published in:

Prenatal Diagnosis, 2001, v. 21, n. 12, p. 1080, doi. 10.1002/pd.248

By:

Magli, M. C.;
Sandalinas, M.;
Escudero, T.;
Morrison, L.;
Ferraretti, A. P.;
Gianaroli, L.;
Munné, S.

Publication type:

Article

First-trimester fetal sex determination in maternal serum using real-time PCR.

Published in:

Prenatal Diagnosis, 2001, v. 21, n. 12, p. 1070, doi. 10.1002/pd.219

By:

Costa, Jean-Marc;
Benachi, Alexandra;
Gautier, Evelyne;
Jouannic, Jean-Marie;
Ernault, Pauline;
Dumez, Yves

Publication type:

Article

Effect of fetal gender on first trimester markers and on Down syndrome screening.

Published in:

Prenatal Diagnosis, 2001, v. 21, n. 12, p. 1027, doi. 10.1002/pd.178

By:

Yaron, Yuval;
Wolman, Igal;
Kupferminc, Michael J.;
Ochshorn, Yifat;
Many, Ariel;
Orr-Urtreger, Avi

Publication type:

Article

Cystic malformations of the posterior fossa.

Published in:

Prenatal Diagnosis, 2001, v. 21, n. 12, p. 1064, doi. 10.1002/pd.189

By:

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

Publication type:

Article

Preimplantation genetic diagnosis for familial amyloidotic polyneuropathy (FAP).

Published in:

Prenatal Diagnosis, 2001, v. 21, n. 12, p. 1093, doi. 10.1002/pd.250

By:

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

Publication type:

Article