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Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly.
- Published in:
- Molecular Syndromology, 2013, v. 3, n. 6, p. 247, doi. 10.1159/000345578
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- Article
Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 Microdeletions.
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- Molecular Syndromology, 2012, v. 3, n. 3, p. 102, doi. 10.1159/000342008
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- Article
Microarray detection of multiple recurring submicroscopic chromosomal aberrations in pediatric T-cell acute lymphoblastic leukemia.
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- Leukemia (08876924), 2011, v. 25, n. 6, p. 1042, doi. 10.1038/leu.2011.33
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- Article
Nomenclature Evolution: Changes in the ISCN from the 2005 to the 2009 Edition.
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- Cytogenetic & Genome Research, 2010, v. 127, n. 1, p. 1, doi. 10.1159/000279442
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- Article
Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2.
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- Clinical Genetics, 2008, v. 74, n. 5, p. 469, doi. 10.1111/j.1399-0004.2008.01094.x
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- Article
Medical applications of array CGH and the transformation of clinical cytogenetics.
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- Cytogenetic & Genome Research, 2006, v. 115, n. 3/4, p. 303, doi. 10.1159/000095928
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- Article
A dual-color FISH assay distinguishes between ELL and MLLT1 (ENL) gene rearrangements in t(11;19)-positive acute leukemia.
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- Leukemia (08876924), 2006, v. 20, n. 11, p. 2046, doi. 10.1038/sj.leu.2404371
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- Article
Rearrangements of chromosome 18 illustrate the utility of array-based comparative genomic hybridization.
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- Cytogenetic & Genome Research, 2006, v. 114, n. 3/4, p. 379, doi. 10.1159/000094228
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- Article
Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement.
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- 2001
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- journal article
Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus-Merzbacher disease.
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- 2001
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- journal article
Prenatal ultrasound findings in a fetus with paternal uniparental disomy 14q12-qter.
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- Ultrasound in Obstetrics & Gynecology, 2001, v. 18, n. 3, p. 268, doi. 10.1046/j.1469-0705.2001.00451.x
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- Article
Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by interphase fluorescence in situ hybridization.
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- 1999
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- journal article
Silver-Russell syndrome and exclusion of uniparental disomy.
- Published in:
- Clinical Genetics, 1996, v. 50, n. 6, p. 494, doi. 10.1111/j.1399-0004.1996.tb02720.x
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- Article
ANALYSIS OF NINE PREGNANCIES WITH CONFINED PLACENTAL MOSAICISM FOR TRISOMY 2.
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- Prenatal Diagnosis, 1996, v. 16, n. 10, p. 899, doi. 10.1002/(SICI)1097-0223(199610)16:10<899::AID-PD960>3.0.CO;2-M
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- Article
Mosaicism for trisomy 12: four cases with varying outcomes.
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- 1995
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- journal article
Identification of a case of maternal uniparental disomy of chromosome 10 associated with confined placental mosaicism.
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- 1995
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- Publication type:
- journal article