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A Challenging Prenatal QF-PCR Rapid Aneuploidy Test Result Caused by a Maternally Inherited Triplication within Chromosome Xq26.2

Cytogenetic and genome research, 2018-01, Vol.156 (1), p.5-8

2018

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Review of the recurrent 8q13.2q13.3 branchio-oto-renal related microdeletion, and report of an additional case with associated distal arthrogryposis

American journal of medical genetics. Part A, 2016-11, Vol.170A (11), p.2984-2987

2016

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Failure of NIPT to detect constitutional chromoanasynthesis involving chromosome 21 in a case of fetal hydrops—A case report

Clinical case reports, 2019-11, Vol.7 (11), p.2165-2168

2019

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Mosaic trisomy 1q: a recurring chromosome anomaly that is a diagnostic challenge and is associated with a Fryns‐like phenotype

Prenatal diagnosis, 2017-06, Vol.37 (6), p.602-610

2017

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Microduplication and Triplication of 22q11.2: A Highly Variable Syndrome

American journal of human genetics, 2005-05, Vol.76 (5), p.865-876

2005

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Prenatal Array Comparative Genomic Hybridization in Fetuses With Structural Cardiac Anomalies

Journal of obstetrics and gynaecology Canada, 2016-07, Vol.38 (7), p.619-626

2016

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A Comparison of the Frequency of Sperm Chromosome Abnormalities in Men with Mild, Moderate, and Severe Oligozoospermia

Biology of reproduction, 2003-08, Vol.69 (2), p.535-539

2003

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A novel method for generating xeno-free human feeder cells for human embryonic stem cell culture

Stem cells and development, 2008-06, Vol.17 (3), p.413-422

2008

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Chromosome Abnormalities in Sperm From Infertile Men with Asthenoteratozoospermia

Biology of reproduction, 2002-06, Vol.66 (6), p.1781-1783

2002

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Interstitial deletion of 11q in a mother and fetus: implications of directly transmitted chromosomal imbalances for prenatal genetic counseling

Prenatal diagnosis, 2009-03, Vol.29 (3), p.283-286

2009

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Suitability of Rapid Aneuploidy Detection for Prenatal Diagnosis

Journal of obstetrics and gynaecology Canada, 2008-09, Vol.30 (9), p.781-787

2008

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MG-130 Pure duplication of 1q42.11-q44(QTER): Further clinical delineation of a rare terminal duplication syndrome

Journal of medical genetics, 2015-11, Vol.52 (Suppl 1), p.A8-A8

2015

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MG-140 17Q21.31 microdeletion syndrome: A description of two cases

Journal of medical genetics, 2015-11, Vol.52 (Suppl 1), p.A11-A12

2015

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Application of Microarray-Based Comparative Genomic Hybridization in Prenatal and Postnatal Settings: Three Case Reports

Genetics Research International, 2011-01, Vol.2011 (2011), p.1-9

2011

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Clinical and molecular characterization of an almost complete ring chromosome 4 in two sisters, with recurrence due to gonadal mosaicism

Clinical dysmorphology, 2021-10, Vol.30 (4), p.173-176

2021

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Mosaic trisomy 1q: a recurring chromosome anomaly that is a diagnostic challenge and is associated with a Fryns-like phenotype: Prenatal diagnosis of mosaic trisomy 1q

Prenatal diagnosis, 2017-06, Vol.37 (6), p.602-610

2017

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A 2q24.3q31.1 microdeletion found in a patient with Filippi-like syndrome phenotype: A case report

American journal of medical genetics. Part A, 2014-09, Vol.164A (9), p.2385-2387

2014

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Cytogenetic and molecular characterization of a de-novo cryptic deletion of 7p21 associated with an apparently balanced translocation and complex craniosynostosis

Clinical dysmorphology, 2007-10, Vol.16 (4), p.253-256

2007

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Goldenhar phenotype in a child with distal 22q11.2 deletion and intracranial atypical teratoid rhabdoid tumor

American journal of medical genetics. Part A, 2009-12, Vol.149A (12), p.2855-2859

2009

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696: First trimester screening for Down's syndrome in twins

American journal of obstetrics and gynecology, 2009-12, Vol.201 (6), p.S252-S252

2009

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Duplication of the 22q11.2 region associated with congenital cardiac disease

Cardiology in the young, 2005-03, Vol.15 (2), p.229-231

2005

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Aneuploid spermatozoa in infertile men: Teratozoospermia

Molecular reproduction and development, 2002-02, Vol.61 (2), p.200-204

2002

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Epithelial Cells of Donor Origin after Allogeneic HCT: Result of Cell Fusion, Transdifferentiation (plasticity) or Transfer of Epithelial Cell Precursors with the Graft?

Blood, 2008-11, Vol.112 (11), p.387-387

2008

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Shedding new light on false positive diagnosis of trisomy 21 by fluorescence in situ hybridization (FISH) on uncultured amniotic fluid cells: experiences from two Canadian cytogenetic laboratories

Prenatal diagnosis, 2007-10, Vol.27 (10), p.964-966

2007

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115-P: Donor Epithelial Cell Chimerism is a True Phenomenon: Number of Donor-Origin Nasal Epithelial Cells Correlates With Time Posttransplant But at a Faster Rate in the First 3 Months Compared to Later Posttransplant

Human immunology, 2010, Vol.71, p.S91-S91

2010

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A Challenging Prenatal QF-PCR Rapid Aneuploidy Test Result Caused by a Maternally Inherited Triplication within Chromosome Xq26.2

Review of the recurrent 8q13.2q13.3 branchio-oto-renal related microdeletion, and report of an additional case with associated distal arthrogryposis

Failure of NIPT to detect constitutional chromoanasynthesis involving chromosome 21 in a case of fetal hydrops—A case report

Mosaic trisomy 1q: a recurring chromosome anomaly that is a diagnostic challenge and is associated with a Fryns‐like phenotype

Microduplication and Triplication of 22q11.2: A Highly Variable Syndrome

Prenatal Array Comparative Genomic Hybridization in Fetuses With Structural Cardiac Anomalies

A Comparison of the Frequency of Sperm Chromosome Abnormalities in Men with Mild, Moderate, and Severe Oligozoospermia

A novel method for generating xeno-free human feeder cells for human embryonic stem cell culture

Chromosome Abnormalities in Sperm From Infertile Men with Asthenoteratozoospermia

Interstitial deletion of 11q in a mother and fetus: implications of directly transmitted chromosomal imbalances for prenatal genetic counseling

Suitability of Rapid Aneuploidy Detection for Prenatal Diagnosis

MG-130 Pure duplication of 1q42.11-q44(QTER): Further clinical delineation of a rare terminal duplication syndrome

MG-140 17Q21.31 microdeletion syndrome: A description of two cases

Application of Microarray-Based Comparative Genomic Hybridization in Prenatal and Postnatal Settings: Three Case Reports

Clinical and molecular characterization of an almost complete ring chromosome 4 in two sisters, with recurrence due to gonadal mosaicism

Mosaic trisomy 1q: a recurring chromosome anomaly that is a diagnostic challenge and is associated with a Fryns-like phenotype: Prenatal diagnosis of mosaic trisomy 1q

A 2q24.3q31.1 microdeletion found in a patient with Filippi-like syndrome phenotype: A case report

Cytogenetic and molecular characterization of a de-novo cryptic deletion of 7p21 associated with an apparently balanced translocation and complex craniosynostosis

Goldenhar phenotype in a child with distal 22q11.2 deletion and intracranial atypical teratoid rhabdoid tumor

696: First trimester screening for Down's syndrome in twins

Duplication of the 22q11.2 region associated with congenital cardiac disease

Aneuploid spermatozoa in infertile men: Teratozoospermia

Epithelial Cells of Donor Origin after Allogeneic HCT: Result of Cell Fusion, Transdifferentiation (plasticity) or Transfer of Epithelial Cell Precursors with the Graft?

Shedding new light on false positive diagnosis of trisomy 21 by fluorescence in situ hybridization (FISH) on uncultured amniotic fluid cells: experiences from two Canadian cytogenetic laboratories

115-P: Donor Epithelial Cell Chimerism is a True Phenomenon: Number of Donor-Origin Nasal Epithelial Cells Correlates With Time Posttransplant But at a Faster Rate in the First 3 Months Compared to Later Posttransplant

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