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Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: Six new patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 504, doi. 10.1002/ajmg.a.36882
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- Publication type:
- Article
De novo interstitial deletion 2q14.1q22.1: Is there a recognizable phenotype?
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3194, doi. 10.1002/ajmg.a.36786
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- Publication type:
- Article
Perspective on the Technical Challenges Involved in the Implementation of Array-CGH in Prenatal Diagnostic Testing.
- Published in:
- Molecular Biotechnology, 2014, v. 56, n. 4, p. 312, doi. 10.1007/s12033-013-9710-4
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- Publication type:
- Article
Controversies in prenatal diagnosis 3: should everyone undergoing invasive testing have a microarray?
- Published in:
- Prenatal Diagnosis, 2014, v. 34, n. 1, p. 18, doi. 10.1002/pd.4287
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- Publication type:
- Article
The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature.
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- Prenatal Diagnosis, 2013, v. 33, n. 12, p. 1119, doi. 10.1002/pd.4209
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- Publication type:
- Article
8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 487, doi. 10.1002/ajmg.a.35767
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- Publication type:
- Article
Duplication of 17q11.2 and Features of Albright Hereditary Osteodystrophy Secondary to Methylation Defects within the GNAS Cluster: Coincidence or Causal?
- Published in:
- Case Reports in Genetics, 2013, p. 1, doi. 10.1155/2013/764152
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- Publication type:
- Article
Evaluation of a Novel Assay for Detection of the Fetal Marker RASSF1A: Facilitating Improved Diagnostic Reliability of Noninvasive Prenatal Diagnosis.
- Published in:
- PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0045073
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- Publication type:
- Article
17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 534, doi. 10.1038/ejhg.2011.239
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- Publication type:
- Article
De novo deletions and duplications detected by array CGH: a study of parental origin in relation to mechanisms of formation and size of imbalance.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 2, p. 155, doi. 10.1038/ejhg.2011.182
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- Publication type:
- Article
Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 2, p. 166, doi. 10.1038/ejhg.2011.157
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- Publication type:
- Article
SOX2 haploinsufficiency is associated with slow progressing hypothalamo-pituitary tumours.
- Published in:
- Human Mutation, 2011, v. 32, n. 12, p. 1376, doi. 10.1002/humu.21606
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- Publication type:
- Article
Billateral Polycystic Kidneys in a Girl with WAGR Syndrome.
- Published in:
- Indian Journal of Pediatrics, 2011, v. 78, n. 10, p. 1290, doi. 10.1007/s12098-011-0457-2
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- Publication type:
- Article
Phenotypic variability of distal 22q11.2 copy number abnormalities.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1623, doi. 10.1002/ajmg.a.34051
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- Publication type:
- Article
The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 5, p. 534, doi. 10.1038/ejhg.2010.215
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- Publication type:
- Article
Clinical utility gene card for: WAGR syndrome.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 4, p. 1, doi. 10.1038/ejhg.2010.220
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- Publication type:
- Article
Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1301, doi. 10.1038/ejhg.2008.107
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- Publication type:
- Article
Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma.
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- Human Mutation, 2008, v. 29, n. 11, p. E278, doi. 10.1002/humu.20869
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- Publication type:
- Article
SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development.
- Published in:
- 2008
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- Publication type:
- journal article
Distribution of the D15Z1 copy number polymorphism.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 4, p. 441, doi. 10.1038/sj.ejhg.5201780
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- Publication type:
- Article
Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals.
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- European Journal of Human Genetics, 2005, v. 13, n. 11, p. 1205, doi. 10.1038/sj.ejhg.5201488
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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.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 4, p. 409, doi. 10.1038/sj.ejhg.5201358
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- Publication type:
- Article
Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 2, p. 154, doi. 10.1038/sj.ejhg.5201311
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- Publication type:
- Article
Methods in molecular biology, vol 204. Molecular cytogenetics: protocols and applications: Yao-Shan Fan (editor), Humana Press, ISBN 1-58829-006-9, Hardcover, $135.00.
- Published in:
- 2003
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- Publication type:
- Book Review
A study of cryptic terminal chromosome rearrangements in recurrent miscarriage couples detects unsuspected acrocentric pericentromeric abnormalities.
- Published in:
- Human Genetics, 2003, v. 112, n. 3, p. 298, doi. 10.1007/s00439-002-0887-z
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- Publication type:
- Article
A candidate gene for congenital bilateral isolated ptosis identified by molecular analysis of a de novo balanced translocation.
- Published in:
- Human Genetics, 2002, v. 110, n. 3, p. 244, doi. 10.1007/s00439-002-0679-5
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- Publication type:
- Article
A CASE OF MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 9 IN ASSOCIATION WITH CONFINED PLACENTAL MOSAICISM FOR TRISOMY 9.
- Published in:
- Prenatal Diagnosis, 1996, v. 16, n. 4, p. 371, doi. 10.1002/(SICI)1097-0223(199604)16:4<371::AID-PD866>3.0.CO;2-S
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- Publication type:
- Article
Detection of minimal residual disease in childhood acute lymphoblastic leukaemia using fluorescence in-situ hybridization.
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- British Journal of Haematology, 1995, v. 91, n. 4, p. 1019, doi. 10.1111/j.1365-2141.1995.tb05428.x
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- Publication type:
- Article
Spontaneous induction of an homologous Robertsonian translocation, Rb(11.11) in a murine embryonic stem cell line.
- Published in:
- Genetics Research, 1990, v. 55, n. 2, p. 107, doi. 10.1017/S0016672300025349
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- Publication type:
- Article
The induction of tail malformations in trisomy 16 mouse fetuses heterozygous for the curly tail recessive gene.
- Published in:
- Genetics Research, 1990, v. 55, n. 1, p. 27, doi. 10.1017/S0016672300025167
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- Publication type:
- Article
Complex Chromosomal Rearrangements.
- Published in:
- Clinical Genetics, 1981, v. 19, n. 6, p. 481, doi. 10.1111/j.1399-0004.1981.tb02068.x
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- Publication type:
- Article
48, XYY,+13 Karyotype in a liveborn infant.
- Published in:
- Clinical Genetics, 1980, v. 17, n. 1, p. 31, doi. 10.1111/j.1399-0004.1980.tb00110.x
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- Publication type:
- Article