Found: 47
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Jumping translocation in a phenotypically normal female.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 3, p. 156, doi. 10.1111/j.1399-0004.1996.tb03276.x
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- Publication type:
- Article
Corrigendum: Sarcoidosis is associated with a truncating splice site mutation in the gene BTNL2.
- Published in:
- 2005
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- Publication type:
- Correction Notice
The situation of preimplantation genetic diagnosis in Germany: legal and ethical problems.
- Published in:
- 2000
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- Publication type:
- journal article
Rapid detection of expansions by PCR and non-radioactive hybridization: application for prenatal diagnosis of myotonic dystrophy.
- Published in:
- 2000
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- Publication type:
- journal article
Tuberous sclerosis with intracardiac rhabdomyoma in a fetus with trisomy 21: case report and review of literature.
- Published in:
- 1999
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- Publication type:
- journal article
Sonographically detected fetal and placental abnormalities associated with trisomy 16 confined to the placenta. A case report and review of the literature.
- Published in:
- Prenatal Diagnosis, 1998, v. 18, n. 12, p. 1308, doi. 10.1002/(SICI)1097-0223(199812)18:12<1308::AID-PD443>3.0.CO;2-H
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- Publication type:
- Article
Chromosome mosaicism of the placenta--a cause of developmental failure of the fetus?
- Published in:
- 1989
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- Publication type:
- journal article
First trimester diagnosis of Rho (D) with an immunofluorescence technique after chorionic villus sampling.
- Published in:
- 1987
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- Publication type:
- journal article
Prenatal diagnosis of a 46,XX/47,XX, +12 mosaic.
- Published in:
- Prenatal Diagnosis, 1984, v. 4, n. 4, p. 307, doi. 10.1002/pd.1970040411
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- Publication type:
- Article
Polar body biopsy in the diagnosis of monogenic diseases-the birth of three healthy children.
- Published in:
- 2009
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- Publication type:
- Journal Article
Angiotensin-converting enzyme (ACE) gene polymorphisms and familial occurrence of sarcoidosis.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Spinocerebellar ataxia type 4.
- Published in:
- Journal of Neurology, 2005, v. 252, n. 12, p. 1472, doi. 10.1007/s00415-005-0892-y
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- Publication type:
- Article
FMR1 premutation as a rare cause of late onset ataxia.
- Published in:
- Journal of Neurology, 2004, v. 251, n. 11, p. 1418, doi. 10.1007/s00415-004-0558-1
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- Publication type:
- Article
Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region.
- Published in:
- Journal of Neurology, 2003, v. 250, n. 6, p. 668, doi. 10.1007/S00415-003-1052-x
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- Publication type:
- Article
Rational approach to genetic testing of cystic fibrosis (CF) in infertile men.
- Published in:
- Andrologia, 2005, v. 37, n. 1, p. 1, doi. 10.1111/j.1439-0272.2004.00644.x
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- Publication type:
- Article
Extension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutations.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 11, p. 979, doi. 10.1038/sj.ejhg.5201257
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- Publication type:
- Article
SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy 6.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 8, p. 629, doi. 10.1038/sj.ejhg.5201018
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- Publication type:
- Article
Assignment of transcription factor NFAT5 to human chromosome 16q22.1, murine chromosome 8D and porcine chromosome 6p1.4 and comparison of the polyglutamine domains.
- Published in:
- Cytogenetic & Genome Research, 2000, v. 90, n. 1/2, p. 68, doi. 10.1159/000015665
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- Publication type:
- Article
Genomic organization of the human NFAT5 gene: exon-intron structure of the 14-kb transcript and CpG-island analysis of the promoter region.
- Published in:
- Cytogenetics & Cell Genetics, 2001, v. 93, n. 3/4, p. 239, doi. 10.1159/000056990
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- Publication type:
- Article
Limited somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions identified by small pool PCR in blood leukocytes.
- Published in:
- Acta Neurologica Scandinavica, 2001, v. 103, n. 3, p. 188, doi. 10.1034/j.1600-0404.2001.103003188.x
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- Publication type:
- Article
Prenatal diagnosis of single umbilical artery: determination of the absent side, associated anomalies, Doppler findings and perinatal outcome.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2000, v. 15, n. 2, p. 114, doi. 10.1046/j.1469-0705.2000.00055.x
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- Publication type:
- Article
Neural tube defects in chromosomally normal and abnormal human embryos.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 1997, v. 10, n. 6, p. 410, doi. 10.1046/j.1469-0705.1997.10060410.x
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- Publication type:
- Article
Study of Toll-like receptor gene loci in sarcoidosis.
- Published in:
- Clinical & Experimental Immunology, 2008, v. 152, n. 3, p. 423, doi. 10.1111/j.1365-2249.2008.03621.x
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- Publication type:
- Article
Genetic sonography as the preferred option of prenatal diagnosis in patients with pregnancies following intracytoplasmic sperm injection.
- Published in:
- 1999
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- Publication type:
- journal article
Pregnancy. Genetic sonography as the preferred option of prenatal diagnosis in patients with pregnancies following intracytoplasmic sperm injection.
- Published in:
- Human Reproduction, 1999, v. 14, n. 10, p. 2629, doi. 10.1093/humrep/14.10.2629
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- Publication type:
- Article
Debate. Assisted reproductive techniques - are we avoiding the genetic issues?
- Published in:
- 1996
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- Publication type:
- journal article
Genetic consequences of ICSI: Assisted reproductive techniques—are we avoiding the genetic issues?
- Published in:
- Human Reproduction, 1996, v. 11, n. 5, p. 926, doi. 10.1093/oxfordjournals.humrep.a019321
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- Publication type:
- Article
Results of cytogenetic analysis in men with severe subfertility prior to intracytoplasmic sperm injection.
- Published in:
- 1996
- By:
- Publication type:
- journal article
Low-Level Gonosomal Mosaicism in Women Undergoing ICSI Cycles.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2004, v. 21, n. 5, p. 149, doi. 10.1023/B:JARG.0000031247.55993.1d
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- Publication type:
- Article
Primed in situ labeling: sensitivity and specificity for detection of α-satellite DNA in the centromere regions of chromosomes 13 and 21.
- Published in:
- Cytogenetics & Cell Genetics, 2001, v. 95, n. 1/2, p. 28, doi. 10.1159/000057013
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- Publication type:
- Article
Studies in Down's Syndrome.
- Published in:
- Vox Sanguinis, 1970, v. 19, n. 3/4, p. 280, doi. 10.1111/j.1423-0410.1970.tb01527.x
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- Publication type:
- Article
Validation of Primed in situ Labeling for Interphase Analysis of Chromosomes 18, X, and Y in Uncultured Amniocytes.
- Published in:
- Fetal Diagnosis & Therapy, 2003, v. 18, n. 2, p. 114, doi. 10.1159/000068072
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- Publication type:
- Article
Is intracytoplasmic sperm injection itself an indication to perform preimplantation genetic diagnosis (PGD)? About PGD, invasive prenatal diagnosis and genetic sonography.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Doppler echocardiography versus cardiac catheterization in the evaluation of valvular heart disease: Do we have a gold standard?
- Published in:
- Clinical Cardiology, 1991, v. 14, n. 5, p. 369, doi. 10.1002/clc.4960140503
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- Publication type:
- Article
Association studies of Parkinson's disease and parkin polymorphisms.
- Published in:
- 2000
- By:
- Publication type:
- Letter
Molecular basis of mucopolysaccharidosis type II: Mutations in the iduronate-2-sulphatase gene.
- Published in:
- Human Mutation, 1993, v. 2, n. 6, p. 435, doi. 10.1002/humu.1380020603
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- Publication type:
- Article
X-Chromosomal DNA Polymorphisms in Two Ethnic Groups from India.
- Published in:
- Human Heredity, 1989, v. 39, n. 5, p. 282, doi. 10.1159/000153873
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- Publication type:
- Article
Four DNA Polymorphisms on the Short Arm of the X Chromosome: Allele Frequencies in a German and in a Turkish Population.
- Published in:
- Human Heredity, 1987, v. 37, n. 6, p. 329, doi. 10.1159/000153729
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- Publication type:
- Article
Heterozygous ‘null allele’ mutation in the human peripherin/RDS gene.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 12, p. 2181
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- Publication type:
- Article
A simplified protocol for fluorescence in situ hybridization with repetitive DNA probes and its use in clinical cytogenetics.
- Published in:
- Clinical Genetics, 1991, v. 40, n. 1, p. 47, doi. 10.1111/j.1399-0004.1991.tb03067.x
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- Publication type:
- Article
Dermatoglyphic peculiarities in families with X-linked mental retardation and fragile site Xq27: a collaborative study.
- Published in:
- Clinical Genetics, 1986, v. 30, n. 1, p. 1, doi. 10.1111/j.1399-0004.1986.tb00563.x
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- Publication type:
- Article
Isochromosome 18q with karyotype 46, XX, i(18q). Cytogenetics and pathology.
- Published in:
- Clinical Genetics, 1984, v. 26, n. 6, p. 549, doi. 10.1111/j.1399-0004.1984.tb01102.x
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- Publication type:
- Article
Sex determination in nuclei of amnion fluid cells.
- Published in:
- Clinical Genetics, 1978, v. 14, n. 3, p. 169, doi. 10.1111/j.1399-0004.1978.tb02124.x
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- Publication type:
- Article
Familial balanced (7;11;21)translocation and Down's syndrome in two siblings.
- Published in:
- Clinical Genetics, 1975, v. 7, n. 4, p. 304, doi. 10.1111/j.1399-0004.1975.tb00333.x
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- Publication type:
- Article
Frequency and morphology of the Y-body in patients with female or ambisexual phenotype.
- Published in:
- Clinical Genetics, 1973, v. 4, n. 5, p. 447, doi. 10.1111/j.1399-0004.1973.tb01175.x
- By:
- Publication type:
- Article
Studies in Down's syndrome.
- Published in:
- Clinical Genetics, 1973, v. 4, n. 5, p. 398, doi. 10.1111/j.1399-0004.1973.tb01166.x
- By:
- Publication type:
- Article
Spinocerebellar ataxia type 4 (SCA4): Initial pathoanatomical study reveals widespread cerebellar and brainstem degeneration.
- Published in:
- Journal of Neural Transmission, 2006, v. 113, n. 7, p. 829, doi. 10.1007/s00702-005-0362-9
- By:
- Publication type:
- Article