Found: 16
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A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2849, doi. 10.1002/ajmg.a.35694
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- Article
Feasibility, accuracy and safety of chorionic villus sampling: a report of 10 741 cases.
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- Prenatal Diagnosis, 2003, v. 23, n. 4, p. 295, doi. 10.1002/pd.578
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- Publication type:
- Article
Proportion of parents agreeing to delay fetal karyotyping until the third trimester of pregnancy in cases with an indication.
- Published in:
- 2012
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- Publication type:
- Journal Article
Proportion of Parents Agreeing to Delay Fetal Karyotyping until the Third Trimester of Pregnancy in Cases with an Indication.
- Published in:
- Fetal Diagnosis & Therapy, 2012, v. 31, n. 2, p. 115, doi. 10.1159/000334067
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- Article
Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 4, p. 471, doi. 10.1038/ejhg.2013.189
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- Article
The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 6, p. 602, doi. 10.1038/ejhg.2012.230
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- Article
Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 4, p. 454, doi. 10.1038/ejhg.2008.214
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- Article
Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 6, p. 680, doi. 10.1038/sj.ejhg.5201977
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- Publication type:
- Article
Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion.
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- European Journal of Human Genetics, 2005, v. 13, n. 4, p. 409, doi. 10.1038/sj.ejhg.5201358
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- Article
Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy.
- Published in:
- 2004
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- Publication type:
- Report
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 3, p. 420, doi. 10.1111/cge.13493
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- Publication type:
- Article
Fluorescence-based selection of retrovirally transduced cells in congenital erythropoietic porphyria: direct selection based on the expression of the therapeutic gene.
- Published in:
- Journal of Gene Medicine, 1999, v. 1, n. 5, p. 322, doi. 10.1002/(SICI)1521-2254(199909/10)1:5<322::AID-JGM53>3.0.CO;2-2
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- Publication type:
- Article
Prenatal diagnosis and management of sex chromosome aneuploidy: a report on 98 cases.
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- Prenatal Diagnosis, 2004, v. 24, n. 3, p. 213, doi. 10.1002/pd.834
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- Publication type:
- Article
Pregnancy outcome and prognosis in fetuses with increased first-trimester nuchal translucency.
- Published in:
- 2001
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- Publication type:
- journal article
Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR (Communicated by Paolo M. Fortina).
- Published in:
- Human Mutation, 2004, v. 23, n. 3, p. 278, doi. 10.1002/humu.20001
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- Publication type:
- Article
A review of malignancies in fragile X syndrome and report of an Ewing sarcoma.
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- International Journal on Disability & Human Development (De Gruyter), 2008, v. 7, n. 4, p. 441, doi. 10.1515/ijdhd.2008.7.4.441
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- Article