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Utility of Measuring Fetal Cavum Septum Pellucidum (CSP) Width During Routine Obstetrical Ultrasound for Improving Diagnosis of 22q11.2 Deletion Syndrome: A Case-Control Study

Application of clinical genetics, 2022-01, Vol.15, p.87-95

2022

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Origin of a Prenatal Mosaic Supernumerary Neocentromeric Derivative Chromosome 13 Determined by QF-PCR

Fetal diagnosis and therapy, 2013-01, Vol.33 (1), p.75-78

2013

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Cryptic chromosome rearrangements detected by subtelomere assay in patients with mental retardation and dysmorphic features

Clinical genetics, 2002-12, Vol.62 (6), p.488-494

2002

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Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype

Clinical genetics, 2000-02, Vol.57 (2), p.103-109

2000

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Cytogenetic microarrays in Manitoba patients with developmental delay

Clinical genetics, 2009-05, Vol.75 (5), p.498-500

2009

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Genetic landmarks through philately - epilepsy and clinical genetic issues

Clinical genetics, 2004-10, Vol.66 (4), p.290-292

2004

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Refinement of the hereditary xerocytosis locus on chromosome 16q in a large Canadian kindred

Blood cells, molecules, & diseases, 2011-12, Vol.47 (4), p.226-231

2011

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Family history characteristics, tumor microsatellite instability and germline MSH2 and MLH1 mutations in hereditary colorectal cancer

Human genetics, 1999-02, Vol.104 (2), p.167-176

1999

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Landmarks in genetics through philately: Down syndrome

Clinical genetics, 2003-04, Vol.63 (4), p.268-272

2003

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Hereditary colorectal cancer registries in Canada: report from the Colorectal Cancer Association of Canada consensus meeting; Montreal, Quebec; October 28, 2011

Current oncology (Toronto), 2013-10, Vol.20 (5), p.273-278

2013

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Outcomes of genetic evaluation in children with pervasive developmental disorder

Journal of developmental and behavioral pediatrics, 1998-10, Vol.19 (5), p.321-325

1998

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Monsters, myths and syndromes depicted on stamps

Clinical genetics, 2001-04, Vol.59 (4), p.244-247

2001

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Proposed Guideline for Fetal Choroid Plexus Cysts

Journal of obstetrics and gynaecology Canada, 2006-10, Vol.28 (10), p.865-866

2006

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A familial awake movement disorder mimicking restless legs in a sleep apnea patient

Sleep (New York, N.Y.), 1995-09, Vol.18 (7), p.604-607

1995

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Mosaic Isochromosome 20q found on amniocentesis with normal outcome

Prenatal diagnosis, 1990-07, Vol.10 (7), p.469-472

1990

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Atypical features in a case of lethal perinatal Gaucher disease

Neuropathology and applied neurobiology, 2014-12, Vol.40 (7), p.946

2014

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Increased plasma pyridoxal‐5′‐phosphate levels before and after pyridoxine loading in carriers of perinatal/infantile hypophosphatasia

Journal of inherited metabolic disease, 1990-11, Vol.13 (6), p.891-896

1990

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Spontaneous resolution of a cystic hygroma in a fetus with Turner syndrome

Prenatal diagnosis, 1988-05, Vol.8 (4), p.291-296

1988

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Paracentric inversion 11q in Canadian Hutterites

Human genetics, 1992-06, Vol.89 (4), p.450-452

1992

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Familial neuroblastoma: report of a kindred with later age at diagnosis

Journal of pediatric hematology/oncology, 1998-09, Vol.20 (5), p.489-493

1998

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MSAFP levels and oesophageal atresia

Prenatal diagnosis, 1994-11, Vol.14 (11), p.1086-1089

1994

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Routine genetic testing for Asperger syndrome

Genetics in medicine, 2008-11, Vol.10 (11), p.843-845

2008

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Congenital hydrocephalus secondary to Walker-Warburg syndrome identified on the Manitoba Neonatal Screening Programme for Duchenne muscular dystrophy

Journal of medical genetics, 1992-08, Vol.29 (8), p.583-585

1992

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Life without amniocentesis: elevated maternal serum α‐fetoprotein in the Manitoba program 1986–91

Ultrasound in obstetrics & gynecology, 1994-05, Vol.4 (3), p.199-204

1994

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Fragile 19p13 in a family with mental illness

Clinical genetics, 1987-01, Vol.31 (1), p.1-6

1987

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Utility of Measuring Fetal Cavum Septum Pellucidum (CSP) Width During Routine Obstetrical Ultrasound for Improving Diagnosis of 22q11.2 Deletion Syndrome: A Case-Control Study

Origin of a Prenatal Mosaic Supernumerary Neocentromeric Derivative Chromosome 13 Determined by QF-PCR

Cryptic chromosome rearrangements detected by subtelomere assay in patients with mental retardation and dysmorphic features

Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype

Cytogenetic microarrays in Manitoba patients with developmental delay

Genetic landmarks through philately - epilepsy and clinical genetic issues

Refinement of the hereditary xerocytosis locus on chromosome 16q in a large Canadian kindred

Family history characteristics, tumor microsatellite instability and germline MSH2 and MLH1 mutations in hereditary colorectal cancer

Landmarks in genetics through philately: Down syndrome

Hereditary colorectal cancer registries in Canada: report from the Colorectal Cancer Association of Canada consensus meeting; Montreal, Quebec; October 28, 2011

Outcomes of genetic evaluation in children with pervasive developmental disorder

Monsters, myths and syndromes depicted on stamps

Proposed Guideline for Fetal Choroid Plexus Cysts

A familial awake movement disorder mimicking restless legs in a sleep apnea patient

Mosaic Isochromosome 20q found on amniocentesis with normal outcome

Atypical features in a case of lethal perinatal Gaucher disease

Increased plasma pyridoxal‐5′‐phosphate levels before and after pyridoxine loading in carriers of perinatal/infantile hypophosphatasia

Spontaneous resolution of a cystic hygroma in a fetus with Turner syndrome

Paracentric inversion 11q in Canadian Hutterites

Familial neuroblastoma: report of a kindred with later age at diagnosis

MSAFP levels and oesophageal atresia

Routine genetic testing for Asperger syndrome

Congenital hydrocephalus secondary to Walker-Warburg syndrome identified on the Manitoba Neonatal Screening Programme for Duchenne muscular dystrophy

Life without amniocentesis: elevated maternal serum α‐fetoprotein in the Manitoba program 1986–91

Fragile 19p13 in a family with mental illness

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