Found: 24
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Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?
- Published in:
- Clinical Genetics, 2013, v. 83, n. 1, p. 53, doi. 10.1111/j.1399-0004.2012.01850.x
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- Publication type:
- Article
Ring chromosome 22 and neurofibromatosis type II: proof of two-hit model for the loss of the NF2 gene in the development of meningioma.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 1, p. 82, doi. 10.1111/j.1399-0004.2010.01598.x
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- Article
An unbalanced translocation resulting in a duplication of Xq28 causes a Rett syndrome-like phenotype in a female patient.
- Published in:
- Clinical Genetics, 2010, v. 77, n. 6, p. 593, doi. 10.1111/j.1399-0004.2009.01363.x
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- Publication type:
- Article
Preliminary data on an association between blood groups and serum markers used for the so-called "triple screening": free oestriol MoM values are decreased in rhesus-negative (Rh-) women.
- Published in:
- 2001
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- Publication type:
- journal article
A retrospective evaluation of second-trimester serum screening for fetal trisomy 18: experience of two laboratories.
- Published in:
- Prenatal Diagnosis, 1999, v. 19, n. 10, p. 947, doi. 10.1002/(SICI)1097-0223(199910)19:10<947::AID-PD674>3.0.CO;2-M
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- Article
Normal outcome of a pregnancy with mosaicism for double trisomy in amniotic fluid cells.
- Published in:
- 1997
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- Publication type:
- journal article
AGE-INDEPENDENT INDICES IN SECOND-TRIMESTER SERUM SCREENING FOR DOWN'S SYNDROME ARE USELESS.
- Published in:
- Prenatal Diagnosis, 1996, v. 16, n. 1, p. 79, doi. 10.1002/(SICI)1097-0223(199601)16:1<79::AID-PD811>3.0.CO;2-4
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- Publication type:
- Article
Discrepant karyotypes after second- and third-trimester combined placentacentesis/amniocentesis.
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- 1994
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- Publication type:
- journal article
Prenatal detection of X-linked ichthyosis by maternal serum screening for Down syndrome.
- Published in:
- 1994
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- Publication type:
- journal article
Incidence of abortion after genetic amniocentesis in twin pregnancies.
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- Prenatal Diagnosis, 1991, v. 11, n. 8, p. 637, doi. 10.1002/pd.1970110822
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- Publication type:
- Article
Simultaneous placentacentesis and amniocentesis for prenatal karyotyping: Report on 250 cases.
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- Prenatal Diagnosis, 1990, v. 10, n. 6, p. 365, doi. 10.1002/pd.1970100604
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- Article
Abnormal pregnancy sonogram and chromosomal anomalies: four years' experience with rapid karyotyping.
- Published in:
- 1989
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- Publication type:
- journal article
Small Supernumerary Marker Chromosomes (sSMC) in Patients with a 45,X/46,X,+mar Karyotype - 17 New Cases and a Review of the Literature.
- Published in:
- Sexual Development, 2008, v. 1, n. 6, p. 353, doi. 10.1159/000111767
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- Publication type:
- Article
Pseudo dicentric chromosome (5;21): a rare example of maternal germline mosaicism.
- Published in:
- 2001
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- Publication type:
- journal article
Paternal origin of trisomy 21 following intracytoplasmic sperm injection (ICSI).
- Published in:
- 1998
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- Publication type:
- journal article
Case report. Paternal origin of trisomy 21 following intracytoplasmic sperm injection (ICSI).
- Published in:
- Human Reproduction, 1998, v. 13, n. 12, p. 3345, doi. 10.1093/humrep/13.12.3345
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- Publication type:
- Article
Prenatal diagnosis of a large de novo terminal deletion of chromosome 11q.
- Published in:
- Prenatal Diagnosis, 2006, v. 26, n. 3, p. 286, doi. 10.1002/pd.1408
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- Publication type:
- Article
Prenatal diagnosis and fetopathological findings in a fetus with ring chromosome 18.
- Published in:
- 1998
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- Publication type:
- journal article
Branchio-Otic Syndrome Caused by a Genomic Rearrangement: Clinical Findings and Molecular Cytogenetic Studies in a Patient with a Pericentric Inversion of Chromosome 8.
- Published in:
- Cytogenetic & Genome Research, 2013, v. 142, n. 1, p. 1, doi. 10.1159/000355436
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- Publication type:
- Article
A Family with an Inverted Tandem Duplication 5q22.1q23.2.
- Published in:
- Cytogenetic & Genome Research, 2012, v. 139, n. 1, p. 65, doi. 10.1159/000342914
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- Publication type:
- Article
Is There a Yet Unreported Unbalanced Chromosomal Abnormality without Phenotypic Consequences in Proximal 4p?
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- Cytogenetic & Genome Research, 2010, v. 132, n. 1/2, p. 121, doi. 10.1159/000316393
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- Publication type:
- Article
Supernumerary small marker chromosome (SMC) and uniparental disomy 22 in a child with confined placental mosaicism of trisomy 22: Trisomy rescue due to marker chromosome formation.
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- Cytogenetic & Genome Research, 2003, v. 101, n. 2, p. 103, doi. 10.1159/000074163
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- Publication type:
- Article
Preoperative joint line convergence angle correction is a key factor in optimising accuracy in varus knee correction osteotomy.
- Published in:
- Knee Surgery, Sports Traumatology, Arthroscopy, 2023, v. 31, n. 4, p. 1583, doi. 10.1007/s00167-022-07092-2
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- Article
Prenatal diagnosis of genetic disease by chorionic villi sampling.
- Published in:
- 1986
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- Publication type:
- journal article