Search Results - "McGillivray, B C"
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1
Multiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in PTPN11
Published in Clinical genetics (01-02-2009)“…We report a patient with a clinical and molecular diagnosis of LEOPARD syndrome (LS) associated with multiple granular cell tumors (MGCT). Bidirectional…”
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2
Placental mosaicism and intrauterine survival of trisomies 13 and 18
Published in American journal of human genetics (01-03-1989)“…Cytogenetic analysis of 14 placentas from live newborn infants or from terminated pregnancies with trisomies 13 and 18 revealed that all were mosaic. The…”
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3
Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14
Published in Journal of medical genetics (01-04-2007)“…This report presents the detection of a heterozygous deletion at chromosome 12q14 in three unrelated patients with a similar phenotype consisting of mild…”
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4
Precise localisation of 3p25 breakpoints in four patients with the 3p-syndrome
Published in Journal of medical genetics (01-10-1996)“…In patients with the 3p-syndrome, hemizygous deletion of 3p25-pter is associated with profound growth failure, characteristic facial features, and mental…”
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5
A computer model to simulate family history of breast/ovarian cancer in BRCA1 mutation carriers
Published in Mathematical biosciences (01-05-2001)“…The BRCA1 gene and its relationship to family history of breast/ovarian cancer are difficult to study in a population because of practical and ethical issues…”
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6
The newborn with ambiguous genitalia
Published in Seminars in perinatology (01-12-1992)“…The unexpectedness of genital ambiguity in an infant creates an urgent and stressful situation. A logical approach, using a team of specialists together with…”
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7
A deletion map of the WAGR region on chromosome II
Published in American journal of human genetics (01-04-1989)“…The WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) region has been assigned to chromosome 11p13 on the basis of overlapping…”
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8
Confined chorionic mosaicism in prenatal diagnosis
Published in Human genetics (01-10-1987)“…Confined chorionic mosaicism, detected commonly on chorionic villus sampling (CVS) and occasionally in cultured amniotic fluid cells, is described in five…”
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9
Germinal mosaicism in Duchenne muscular dystrophy
Published in Human genetics (01-03-1988)“…We have identified a Duchenne muscular dystrophy (DMD) pedigree where the disease is associated with a molecular deletion within the DMD locus. We have…”
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10
Genetic aspects of ambiguous genitalia
Published in The Pediatric clinics of North America (01-04-1992)“…The unexpected arrival of an infant with ambiguous genitalia is stressful for both physicians and parents. Careful assessment of the external genital…”
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11
Nonimmune hydrops fetalis: a multidisciplinary approach
Published in Clinics in perinatology (01-12-1989)“…In summary, the in utero diagnosis of nonimmune hydrops is associated with a grave prognosis. Antenatal evaluation will determine the cause in many cases,…”
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12
Anencephaly--the potential for survival
Published in Transplantation proceedings (01-08-1988)Get more information
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13
Temporal changes in the utilization of amniocentesis for prenatal diagnosis by women of advanced maternal age, 1976-1983
Published in Prenatal diagnosis (01-05-1985)“…Utilization of amniocentesis for prenatal diagnosis because of the indication of advanced maternal age (greater than or equal to 35 years at delivery) was…”
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14
Arthrogryposis following maternal hypotension
Published in Developmental medicine and child neurology (01-10-1983)“…A case of arthrogryposis multiplex congenita is described, in which the pregnancy had been complicated by a prolonged hypotensive period on the 86th day of…”
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15
Role of prenatal detection of cardiac tumours in the diagnosis of tuberous sclerosis--report of two cases
Published in Prenatal diagnosis (01-10-1988)“…Tuberous sclerosis is an autosomal dominant disease with variable expression. Little is known about the intrauterine course of the disease and the fetal age at…”
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16
Evidence for multi-site closure of the neural tube in humans
Published in American journal of medical genetics (01-10-1993)“…Four separate initiation sites for neural tube (NT) fusion have been demonstrated recently in mice and other experimental animals. We evaluated the question of…”
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17
Tuberous sclerosis: case report and investigation of family members
Published in Canadian Medical Association journal (01-04-1985)“…Familial tuberous sclerosis probably occurs more often than is indicated by the literature: many family members show signs of being carriers of the gene for…”
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18
Familial clefting syndrome with ectropion and dental anomaly--without limb anomalies
Published in Clinical genetics (01-04-1985)“…Three generations of a family are described in which cleft lip and/or cleft palate, ectropion of the lower eyelids and conical teeth, subject to premature…”
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19
Cytogenetic findings in over 2000 amniocenteses
Published in Canadian Medical Association journal (15-10-1983)“…Between 1971 and 1981, 58 (2.8%) of 2037 amniocenteses performed in Vancouver revealed chromosome abnormalities, 25 of which were trisomy 21. Of the 58…”
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20
Perinatal and first year follow-up of patients with Prader-Willi syndrome: normal size of hands and feet
Published in Clinical genetics (01-03-1989)“…Four patients with Prader-Willi syndrome, diagnosed in the neonatal period and followed during the first year of life, are reported. There were three males and…”
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