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Prenatal Diagnosis of Charcot-Marie-Tooth Disease Type 1A.
- Published in:
- Annals of the New York Academy of Sciences, 1999, v. 883, n. 1, p. 457, doi. 10.1111/j.1749-6632.1999.tb08609.x
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- Article
Comments on editorial entitled 'ISCN (2005) Is Not Acceptable for Describing Clonal Evolution in Cancer'.
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- Genes, Chromosomes & Cancer, 2007, v. 46, n. 5, p. 514, doi. 10.1002/gcc.20430
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- Article
Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE.
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- Human Genetics, 2010, v. 127, n. 4, p. 421, doi. 10.1007/s00439-009-0778-7
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- Article
Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements.
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- Human Genetics, 2009, v. 125, n. 5/6, p. 551, doi. 10.1007/s00439-009-0650-9
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- Article
Identification of sequence motifs at the breakpoint junctions in three t(1;9)(p36.3;q34) and delineation of mechanisms involved in generating balanced translocations.
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- Human Genetics, 2006, v. 120, n. 4, p. 519, doi. 10.1007/s00439-006-0222-1
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- Article
Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements.
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- Human Genetics, 2004, v. 114, n. 2, p. 198, doi. 10.1007/s00439-003-1029-y
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- Article
Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12).
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- Human Genetics, 2003, v. 113, n. 5, p. 447, doi. 10.1007/s00439-003-0981-x
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- Article
Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia.
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- Human Genetics, 2002, v. 110, n. 4, p. 371, doi. 10.1007/s00439-002-0699-1
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- Article
A case of segmental paternal isodisomy of chromosome 14.
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- Human Genetics, 2002, v. 110, n. 3, p. 251, doi. 10.1007/s00439-002-0688-4
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- Article
Recurrence risks for different pregnancy outcomes and meiotic segregation analysis of spermatozoa in carriers of t(1;11)(p36.22;q12.2).
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- Journal of Human Genetics, 2014, v. 59, n. 12, p. 667, doi. 10.1038/jhg.2014.92
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- Article
A cytogeneticist’s perspective on genomic microarrays.
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- Human Reproduction Update, 2004, v. 10, n. 3, p. 221, doi. 10.1093/humupd/dmh022
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- Article
Microarray detection of a de novo der(X)t(X;11)(q28;p13) in a girl with premature ovarian failure and features of Beckwith–Wiedemann syndrome.
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- Journal of Human Genetics, 2006, v. 51, n. 7, p. 641, doi. 10.1007/s10038-006-0409-2
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- Article
Trisomy 14 Mosaicism: A Case Report and Review of the Literature.
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- Journal of Perinatology, 2004, v. 24, n. 2, p. 121, doi. 10.1038/sj.jp.7211048
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- Article
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
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- Human Molecular Genetics, 2013, v. 22, n. 9, p. 1816, doi. 10.1093/hmg/ddt035
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- Article
Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.
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- Human Molecular Genetics, 2011, v. 20, n. 19, p. 3769, doi. 10.1093/hmg/ddr293
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- Article
6q22.1 microdeletion and susceptibility to pediatric epilepsy.
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- European Journal of Human Genetics, 2015, v. 23, n. 2, p. 173, doi. 10.1038/ejhg.2014.75
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- Article
Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region.
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- BMC Genomics, 2008, v. 9, p. 1, doi. 10.1186/1471-2164-9-50
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- Article
Acute lymphoblastic leukemia in a patient with Greig cephalopolysyndactyly and interstitial deletion of chromosome 7 del(7)(p11.2 p14) involving the GLI3 and ZNFN1A1 genes.
- Published in:
- Genes, Chromosomes & Cancer, 2005, v. 42, n. 1, p. 82, doi. 10.1002/gcc.20100
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- Article
In case you missed it: the Prenatal Diagnosis section editors bring you the most significant advances of 2013.
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- Prenatal Diagnosis, 2014, v. 34, n. 1, p. 1, doi. 10.1002/pd.4288
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- 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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- Article
The 2012 Malcolm Ferguson-Smith Young Investigator Award.
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- Prenatal Diagnosis, 2013, v. 33, n. 7, p. 619, doi. 10.1002/pd.4169
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- Article
Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies.
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- Prenatal Diagnosis, 2012, v. 32, n. 10, p. 976, doi. 10.1002/pd.3945
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- Article
Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound.
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- Prenatal Diagnosis, 2012, v. 32, n. 10, p. 986, doi. 10.1002/pd.3943
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- Article
The 2011 Malcolm Ferguson-Smith Young Investigator Award.
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- Prenatal Diagnosis, 2012, v. 32, n. 7, p. 613, doi. 10.1002/pd.3916
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- Article
Referral patterns for microarray testing in prenatal diagnosis.
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- Prenatal Diagnosis, 2012, v. 32, n. 6, p. 611, doi. 10.1002/pd.3909
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- Article
New technologies for the assessment of chromosomes in prenatal diagnosis.
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- Prenatal Diagnosis, 2012, v. 32, n. 4, p. 307, doi. 10.1002/pd.3858
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- Article
Referral patterns for microarray testing in prenatal diagnosis.
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- Prenatal Diagnosis, 2012, v. 32, n. 4, p. 344, doi. 10.1002/pd.3856
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- Article
The 2010 Malcolm Ferguson-Smith Young Investigator Award.
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- Prenatal Diagnosis, 2011, v. 31, n. 10, p. 923, doi. 10.1002/pd.2841
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- Article
The development of a rapid assay for prenatal testing of common aneuploidies and microdeletion syndromes.
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- Prenatal Diagnosis, 2011, v. 31, n. 8, p. 778, doi. 10.1002/pd.2766
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- Article
Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post-array CGH era?
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- Prenatal Diagnosis, 2011, v. 31, n. 3, p. 235, doi. 10.1002/pd.2722
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- Article
Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a prenatal setting.
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- Prenatal Diagnosis, 2010, v. 30, n. 12/13, p. 1131, doi. 10.1002/pd.2626
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- Article
Use of array comparative genomic hybridization for prenatal diagnosis of fetuses with sonographic anomalies and normal metaphase karyotype.
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- Prenatal Diagnosis, 2009, v. 29, n. 13, p. 1213, doi. 10.1002/pd.2367
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- Article
Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray.
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- Prenatal Diagnosis, 2009, v. 29, n. 12, p. 1156, doi. 10.1002/pd.2371
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- Article
Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.
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- European Journal of Human Genetics, 2012, v. 20, n. 7, p. 754, doi. 10.1038/ejhg.2012.6
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- Article
Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function.
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- European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1238, doi. 10.1038/ejhg.2011.121
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- Article
Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes.
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- European Journal of Human Genetics, 2011, v. 19, n. 5, p. 547, doi. 10.1038/ejhg.2010.237
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- Article
Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.
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- European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1196, doi. 10.1038/ejhg.2010.102
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- Article
Identification of cryptic imbalance in phenotypically normal and abnormal translocation carriers.
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- European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1255, doi. 10.1038/sj.ejhg.5201710
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- Article
Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome.
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- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 528, doi. 10.1038/sj.ejhg.5201366
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- Article
Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure.
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- European Journal of Human Genetics, 2005, v. 13, n. 2, p. 139, doi. 10.1038/sj.ejhg.5201302
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- Article
FISHing for mechanisms of cytogenetically defined terminal deletions using chromosome-specific subtelomeric probes.
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- European Journal of Human Genetics, 2000, v. 8, n. 10, p. 764, doi. 10.1038/sj.ejhg.5200536
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- Article
Identification of female carriers for Duchenne and Becker muscular dystrophies using a FISH-based approach.
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- European Journal of Human Genetics, 2000, v. 8, n. 4, p. 293, doi. 10.1038/sj.ejhg.5200450
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- Article
Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability.
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- Nature Genetics, 2014, v. 46, n. 12, p. 1293, doi. 10.1038/ng.3120
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- Article
A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk.
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- Nature Genetics, 2010, v. 42, n. 9, p. 745, doi. 10.1038/ng.643
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- Article
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2.
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- Nature Genetics, 2007, v. 39, n. 9, p. 1071, doi. 10.1038/ng2107
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- Article
Large Inverted Duplications in the Human Genome Form via a Fold-Back Mechanism.
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- PLoS Genetics, 2014, v. 10, n. 1, p. 1, doi. 10.1371/journal.pgen.1004139
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- Article
Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens.
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- Prenatal Diagnosis, 2008, v. 28, n. 9, p. 789, doi. 10.1002/pd.2053
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- Article
Detecting sex chromosome anomalies and common triploidies in products of conception by array-based comparative genomic hybridization.
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- Prenatal Diagnosis, 2006, v. 26, n. 4, p. 333, doi. 10.1002/pd.1411
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- Article
Risk estimates for uniparental disomy following prenatal detection of a nonhomologous Robertsonian translocation.
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- 2006
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- Publication type:
- Other
Low or absent unconjugated estriol in pregnancy: an indicator for steroid sulfatase deficiency detectable by fluorescence in situ hybridization and biochemical analysis.
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- Prenatal Diagnosis, 2002, v. 22, n. 11, p. 1028, doi. 10.1002/pd.466
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- Article