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Prenatal diagnosis of X-linked myotubular myopathy.
- Published in:
- Prenatal Diagnosis, 2010, v. 30, n. 2, p. 177, doi. 10.1002/pd.2432
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- Publication type:
- Article
Prenatal Two- and Three-Dimensional Ultrasound Diagnosis of Limb Reduction Defects Associated with Homozygous α-Thalassemia.
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- Fetal Diagnosis & Therapy, 2006, v. 21, n. 4, p. 374, doi. 10.1159/000092468
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- Article
Perinatal findings in a male fetus with congenital megacystis and anorectal malformations.
- Published in:
- 1998
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- Publication type:
- journal article
Prenatal diagnosis of mosaic 1q31.3q32.1 trisomy associated with occipital encephalocele.
- Published in:
- Prenatal Diagnosis, 2008, v. 28, n. 9, p. 865, doi. 10.1002/pd.2061
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- Publication type:
- Article
Prenatal diagnosis of concomitant Wolf-Hirschhorn syndrome and split hand-foot malformation associated with partial monosomy 4p (4p16.1→pter) and partial trisomy 10q (10q25.1→qter).
- Published in:
- Prenatal Diagnosis, 2008, v. 28, n. 5, p. 450, doi. 10.1002/pd.1993
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- Publication type:
- Article
NFκ B2 gene duplication is associated with fetal pyelectasis in partial trisomy 10q (10q24.1 → qter).
- Published in:
- Prenatal Diagnosis, 2008, v. 28, n. 4, p. 364, doi. 10.1002/pd.1962
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- Publication type:
- Article
Cytogenetic variability in the proportion of abnormal cells between the various tissues in prenatally detected mosaic tetrasomy 12p.
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- Prenatal Diagnosis, 2007, v. 27, n. 12, p. 1170, doi. 10.1002/pd.1850
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- Publication type:
- Article
Prenatal diagnosis of Fryns syndrome associated with a microdeletion at 8p23.1.
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- Prenatal Diagnosis, 2007, v. 27, n. 10, p. 967, doi. 10.1002/pd.1797
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- Publication type:
- Article
Prenatal diagnosis of mosaic ring chromosome 4.
- Published in:
- 2007
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- Publication type:
- case study
Prenatal diagnosis of low-level mosaic tetrasomy 9p by amniocentesis.
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- Prenatal Diagnosis, 2007, v. 27, n. 4, p. 383, doi. 10.1002/pd.1678
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- Publication type:
- Article
Prenatal diagnosis of the hypoplastic right heart syndrome with sex chromosome pentasomy (49,XXXXY).
- Published in:
- 2007
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- Publication type:
- case study
Prenatal diagnosis of pentalogy of Cantrell associated with hypoplasia of the right upper limb and ectrodactyly.
- Published in:
- 2007
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- Publication type:
- case study
Prenatal diagnosis of low-level mosaic trisomy 6 by amniocentesis.
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- Prenatal Diagnosis, 2006, v. 26, n. 11, p. 1093, doi. 10.1002/pd.1573
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- Publication type:
- Article
Prenatal diagnosis of mosaic ring chromosome 9.
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- Prenatal Diagnosis, 2006, v. 26, n. 9, p. 870, doi. 10.1002/pd.1515
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- Publication type:
- Article
Perinatal findings and molecular cytogenetic analyses of de novo interstitial deletion of 9q (9q22.3→q31.3) associated with Gorlin syndrome.
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- Prenatal Diagnosis, 2006, v. 26, n. 8, p. 725, doi. 10.1002/pd.1496
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- Publication type:
- Article
Prenatal diagnosis of a micropenis in a male fetus with partial trisomy 12q (12q24.32→qter) and partial monosomy 21q (21q22.2→ter→qter).
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- Prenatal Diagnosis, 2006, v. 26, n. 8, p. 757, doi. 10.1002/pd.1491
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- Publication type:
- Article
Prenatal diagnosis of congenital chylothorax associated with de novopartial trisomy 12q (12q21.2→qter).
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- Prenatal Diagnosis, 2006, v. 26, n. 8, p. 752, doi. 10.1002/pd.1488
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- Publication type:
- Article
Prenatal sonography and magnetic resonance imaging of pulmonary sequestration associated with a gastric duplication cyst.
- Published in:
- 2006
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- Publication type:
- case study
Prenatal diagnosis of low-level mosaicism for a small XIST-negative supernumerary ring X chromosome in a nondysmorphic male fetus.
- Published in:
- Prenatal Diagnosis, 2006, v. 26, n. 4, p. 387, doi. 10.1002/pd.1416
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- Publication type:
- Article
Prenatal findings and molecular cytogenetic analyses of partial trisomy 12q (12q24.32→qter) and partial monosomy 21q (21q22.2→qter).
- Published in:
- Prenatal Diagnosis, 2006, v. 26, n. 4, p. 313, doi. 10.1002/pd.1399
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- Publication type:
- Article
Prenatal diagnosis of pure distal 18q deletion.
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- Prenatal Diagnosis, 2006, v. 26, n. 2, p. 184, doi. 10.1002/pd.1367
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- Publication type:
- Article
Molecular cytogenetic analysis of de novo dup(5)(q33.1q31.1) associated with abnormal perinatal findings.
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- Prenatal Diagnosis, 2006, v. 26, n. 2, p. 181, doi. 10.1002/pd.1365
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- Publication type:
- Article
Favourable outcome in a pregnancy with concomitant maternal and fetal osteogenesis imperfecta associated with a novel COL1A2 mutation.
- Published in:
- Prenatal Diagnosis, 2006, v. 26, n. 2, p. 188, doi. 10.1002/pd.1375
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- Publication type:
- Article
Prenatal diagnosis of de novo t(2;18;14)(q33.1;q12.2;q31.2), dup(5)(q34q34), del(7)(p21.1p21.1), and del(10)(q25.3q25.3) and a review of the prenatally ascertained de novo apparently balanced complex and multiple chromosomal rearrangements.
- Published in:
- Prenatal Diagnosis, 2006, v. 26, n. 2, p. 138, doi. 10.1002/pd.1369
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- Publication type:
- Article
Neonatal outcome of a prenatally detected 46,XX/46,XY true hermaphrodite.
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- Prenatal Diagnosis, 2006, v. 26, n. 2, p. 185, doi. 10.1002/pd.1371
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- Publication type:
- Article
Spectral karyotyping, fluorescence in situ hybridization and molecular genetic analysis of de novo partial trisomy 7p (7p15.1 → pter) and partial monosomy 9p (9p22 → pter).
- Published in:
- Prenatal Diagnosis, 2005, v. 25, n. 12, p. 1170, doi. 10.1002/pd.1300
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- Publication type:
- Article
Prenatal diagnosis of partial trisomy 10q (10q25.3→qter) and partial monosomy 18q (18q23→qter).
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- Prenatal Diagnosis, 2005, v. 25, n. 11, p. 1069, doi. 10.1002/pd.1298
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- Publication type:
- Article
Prenatal diagnosis of low-level mosaic trisomy 7 by amniocentesis.
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- Prenatal Diagnosis, 2005, v. 25, n. 11, p. 1067, doi. 10.1002/pd.1297
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- Publication type:
- Article
Prenatal diagnosis of partial trisomy 16q and distal 22q13 deletion associated with dolichocephaly and frontal bossing on second-trimester ultrasound.
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- Prenatal Diagnosis, 2005, v. 25, n. 10, p. 964, doi. 10.1002/pd.1277
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- Publication type:
- Article
Spectral karyotyping and fluorescence in situ hybridization analysis of de novo partial duplication of Yq (Yq11.2→qter) and partial monosomy 5p (5p15.3→pter).
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- Prenatal Diagnosis, 2005, v. 25, n. 8, p. 723, doi. 10.1002/pd.1223
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- Publication type:
- Article
Prenatal magnetic resonance imaging demonstration of the systemic feeding artery of a pulmonary sequestration associated with in utero regression.
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- Prenatal Diagnosis, 2005, v. 25, n. 8, p. 721, doi. 10.1002/pd.1209
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- Publication type:
- Article
Prenatal diagnosis of an acardiac amorphous twin and the anomalous co-twin in a monoamniotic twin pregnancy.
- Published in:
- 2005
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- Publication type:
- case study
Prenatal imaging of limb-body wall complex by magnetic resonance imaging.
- Published in:
- Prenatal Diagnosis, 2005, v. 25, n. 6, p. 521, doi. 10.1002/pd.838
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- Publication type:
- Article
Contribution of ultrafast magnetic resonance imaging in prenatal diagnosis of sonographically undetected cerebral tuberous sclerosis associated with cardiac rhabdomyomas.
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- Prenatal Diagnosis, 2005, v. 25, n. 6, p. 523, doi. 10.1002/pd.1182
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- Publication type:
- Article
Prenatal diagnosis and molecular cytogenetic analysis of partial monosomy 10q (10q25.3→qter) and partial trisomy 18q (18q23→qter) in a fetus associated with cystic hygroma and ambiguous genitalia.
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- Prenatal Diagnosis, 2005, v. 25, n. 6, p. 492, doi. 10.1002/pd.1179
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- Publication type:
- Article
Prenatal diagnosis, sonographic findings and molecular genetic analysis of a 46,XX/46,XY true hermaphrodite chimera.
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- Prenatal Diagnosis, 2005, v. 25, n. 6, p. 502, doi. 10.1002/pd.1181
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- Publication type:
- Article
Perinatal findings of partial trisomy 13q (13q14.1→qter) resulting from paternal pericentric inversion of chromosome 13.
- Published in:
- Prenatal Diagnosis, 2005, v. 25, n. 6, p. 527, doi. 10.1002/pd.1177
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- Publication type:
- Article
Prenatal magnetic resonance imaging of Galloway-Mowat syndrome.
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- Prenatal Diagnosis, 2005, v. 25, n. 6, p. 525, doi. 10.1002/pd.1183
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- Publication type:
- Article
Recurrent short-rib polydactyly syndrome: prenatal three-dimensional ultrasound findings and associations with congenital high airway obstruction and pyelectasia.
- Published in:
- 2005
- By:
- Publication type:
- case study
Prenatal diagnosis of de novo proximal interstitial deletion of 9q and review of the literature of uncommon aneuploidies associated with increased nuchal translucency.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Prenatal diagnosis of de novo partial trisomy 13q (13q22 → qter) and partial monosomy 8p (8p23.3 → pter) associated with holoprosencephaly, premaxillary agenesis, hexadactyly, and a hypoplastic left heart.
- Published in:
- Prenatal Diagnosis, 2005, v. 25, n. 4, p. 334, doi. 10.1002/pd.1126
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- Publication type:
- Article
A comparison of maternal age, sex ratio and associated major anomalies among fetal trisomy 18 cases with different cell division of error.
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- Prenatal Diagnosis, 2005, v. 25, n. 4, p. 327, doi. 10.1002/pd.1123
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- Publication type:
- Article
Prenatal diagnosis of concomitant alobar holoprosencephaly and caudal regression syndrome associated with maternal diabetes.
- Published in:
- 2005
- By:
- Publication type:
- case study
Recurrent fetal pyelectasis in a family with fetuses associated with partial trisomy 10q (10q24.1→qter).
- Published in:
- Prenatal Diagnosis, 2005, v. 25, n. 3, p. 263, doi. 10.1002/pd.1106
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- Publication type:
- Article
Perinatal findings and molecular cytogenetic analysis of de novo partial trisomy 16q (16q22.1→qter) and partial monosomy 20q (20q13.3→qter).
- Published in:
- Prenatal Diagnosis, 2005, v. 25, n. 2, p. 112, doi. 10.1002/pd.1083
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- Publication type:
- Article
Asymmetrical terminal limb defects in a hydropic infant with homozygous α-thalassemia-1.
- Published in:
- Prenatal Diagnosis, 2005, v. 25, n. 2, p. 178, doi. 10.1002/pd.1092
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- Publication type:
- Article
Molecular genetic analysis of the TSC genes in two families with prenatally diagnosed rhabdomyomas.
- Published in:
- Prenatal Diagnosis, 2005, v. 25, n. 2, p. 176, doi. 10.1002/pd.1085
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- Publication type:
- Article
Second-trimester magnetic resonance imaging of fetal sacrococcygeal teratoma with intrapelvic extension in a co-twin.
- Published in:
- Prenatal Diagnosis, 2004, v. 24, n. 12, p. 1015, doi. 10.1002/pd.946
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- Publication type:
- Article
Prenatal diagnosis of complete trisomy 16q in two consecutive pregnancies.
- Published in:
- Prenatal Diagnosis, 2004, v. 24, n. 12, p. 1019, doi. 10.1002/pd.1034
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- Publication type:
- Article
Prenatal diagnosis of complete trisomy 16q in two consecutive pregnancies.
- Published in:
- Prenatal Diagnosis, 2004, v. 24, n. 11, p. 928, doi. 10.1002/pd.993
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- Publication type:
- Article