Found: 30
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Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study.
- Published in:
- Clinical Genetics, 2014, v. 85, n. 3, p. 233, doi. 10.1111/cge.12138
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- Publication type:
- Article
The fetal phenotype of partial 2q trisomy.
- Published in:
- Prenatal Diagnosis, 1995, v. 15, n. 4, p. 382, doi. 10.1002/pd.1970150415
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- Publication type:
- Article
A genome-wide DNA methylation study in azoospermia.
- Published in:
- Andrology, 2013, v. 1, n. 6, p. 815, doi. 10.1111/j.2047-2927.2013.00117.x
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- Publication type:
- Article
Sperm FISH analysis of a 44,X,der(Y),t(Y;15)(q12;q10)pat,rob(13;14)(q10;q10)mat complex chromosome rearrangement.
- Published in:
- Andrologia, 2014, v. 46, n. 5, p. 576, doi. 10.1111/and.12112
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- Publication type:
- Article
Abnormal methylation does not prevent X inactivation in ICF patients.
- Published in:
- Cytogenetic & Genome Research, 1999, v. 84, n. 1/2, p. 245, doi. 10.1159/000015269
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- Publication type:
- Article
Whole-exome sequencing in patients with maturation arrest: a potential additional diagnostic tool for prevention of recurrent negative testicular sperm extraction outcomes.
- Published in:
- 2022
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- Publication type:
- journal article
Tumor necrosis factor-308 polymorphism increases the embryo implantation rate in women undergoing in vitro fertilization.
- Published in:
- 2013
- By:
- Publication type:
- Journal Article
Tumor necrosis factor-308 polymorphism increases the embryo implantation rate in women undergoing in vitro fertilization.
- Published in:
- Human Reproduction, 2013, v. 28, n. 10, p. 2774, doi. 10.1093/humrep/det264
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- Publication type:
- Article
Abnormal methylation does not prevent X inactivation in ICF patients.
- Published in:
- Cytogenetics & Cell Genetics, 1999, v. 84, n. 3/4, p. 245, doi. 10.1159/000015269
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- Publication type:
- Article
Birth of a boy with isolated short stature after prenatal diagnosis of a Xp22.3 nullosomy due to an inherited t(X;15) (p22.3;p10) translocation.
- Published in:
- Clinical Case Reports, 2014, v. 2, n. 3, p. 98, doi. 10.1002/ccr3.71
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- Publication type:
- Article
OC28.02: BACs on beads: a clue to ultrasound findings.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2011, v. 38, p. 50, doi. 10.1002/uog.9243
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- Publication type:
- Article
P02.05: Aneuploidy recurrence: new data.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2009, v. 34, n. S1, p. 183, doi. 10.1002/uog.7029
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- Publication type:
- Article
OP22.09: Fetal karyotype in twin to twin transfusion syndrome: A seven-year study.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2008, v. 32, n. 3, p. 387, doi. 10.1002/uog.5863
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- Publication type:
- Article
Lupus erythematosus proliferative glomerulonephritis in fetus.
- Published in:
- Lupus, 2005, v. 14, n. 4, p. 326, doi. 10.1191/0961203303lu2045cr
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- Publication type:
- Article
Evidence of a high proportion of premature unbalanced separation of sister chromatids in the first polar bodies of women of advanced age.
- Published in:
- Human Reproduction, 2006, v. 21, n. 5, p. 1172, doi. 10.1093/humrep/dei484
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- Publication type:
- Article
Meiotic segregation in spermatozoa of a 46,X,t(Y;10)(q11.2;p15.2) fertile translocation carrier.
- Published in:
- 2009
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- Publication type:
- Case Study
Stability of aneuploidy rate in polar bodies in two cohorts from the same patient.
- Published in:
- Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2008, v. 17, n. 2, p. 213, doi. 10.1016/S1472-6483(10)60197-6
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- Publication type:
- Article
Can high magnification morphological selection of spermatozoa be effective reducing chromosomal risk for patients carrying translocations?
- Published in:
- Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2008, v. 16, p. S-27, doi. 10.1016/S1472-6483(10)61362-4
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- Publication type:
- Article
Preconceptional diagnosis for Robertsonian translocation as an alternative to preimplantation genetic diagnosis in two situations: a pilot study.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2009, v. 26, n. 2/3, p. 113, doi. 10.1007/s10815-009-9293-y
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- Publication type:
- Article
Gamete cytogenetic study in couples with implantation failure: aneuploidy rate is increased in both couple members.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2008, v. 25, n. 11/12, p. 539, doi. 10.1007/s10815-008-9258-6
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- Publication type:
- Article
Prenatal BACs-on-Beads([TM]) : a new technology for rapid detection of aneuploidies and microdeletions in prenatal diagnosis.
- Published in:
- 2011
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- Publication type:
- Journal Article
Prenatal BACs-on-Beads.
- Published in:
- Prenatal Diagnosis, 2011, v. 31, n. 5, p. 500, doi. 10.1002/pd.2727
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- Publication type:
- Article
Fetal karyotype in feto-fetal transfusion syndrome: a 7-year experience.
- Published in:
- Prenatal Diagnosis, 2009, v. 29, n. 8, p. 804, doi. 10.1002/pd.2272
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- Publication type:
- Article
Partial trisomy 20p resulting from recombination of a maternal pericentric inversion: case report of a prenatal diagnosis by chorionic villus sampling.
- Published in:
- Prenatal Diagnosis, 2006, v. 26, n. 3, p. 239, doi. 10.1002/pd.1389
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- Publication type:
- Article
Mid-trimester hyperechogenic bowel in a fetus of Japanese origin carrying a new mutation of CFTR gene (L548Q).
- Published in:
- 2006
- By:
- Publication type:
- journal article
Dandy - Walker syndrome and corpus callosum agenesis in 5p deletion.
- Published in:
- Prenatal Diagnosis, 2005, v. 25, n. 4, p. 311, doi. 10.1002/pd.1130
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- Publication type:
- Article
Fetal karyotyping after 28 weeks of gestation for late ultrasound findings in a low risk population.
- Published in:
- Prenatal Diagnosis, 2003, v. 23, n. 13, p. 1068, doi. 10.1002/pd.715
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- Publication type:
- Article
Array Comparative Genomic Hybridization in Prenatal Diagnosis: Another Experience.
- Published in:
- Fetal Diagnosis & Therapy, 2009, v. 25, n. 2, p. 277, doi. 10.1159/000224112
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- Publication type:
- Article
Partial Chromosome Deletion: A New Trisomy Rescue Mechanism?
- Published in:
- Fetal Diagnosis & Therapy, 2009, v. 25, n. 1, p. 111, doi. 10.1159/000203400
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- Publication type:
- Article
Predisposition to Aneuploidy in the Oocyte.
- Published in:
- Cytogenetic & Genome Research, 2011, v. 133, n. 2-4, p. 127, doi. 10.1159/000324231
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- Publication type:
- Article