B. McGillivray

发表

Fatal familial insomnia: the first account in a family of Chinese descent.

H. Feldman, P. Gambetti, S. Spacey, 2004, Archives of neurology.

The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

M. Gerstein, Fabian Grubert, L. Shaffer, 2009, Proceedings of the National Academy of Sciences.

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation.

Sarah Barber, Steven J. M. Jones, Martin Krzywinski, 2006, American journal of human genetics.

Clinical and ultrastructural heterogeneity of type IV Ehlers-Danlos syndrome

P. Byers, K. Holbrook, R. Lowry, 1979, Human Genetics.

Arthrogryposis Following Maternal Hypotension

B. McGillivray, K. Farrell, B. McGillivray, 1983, Developmental medicine and child neurology.

Prenatal diagnosis of 45,X/46,XX mosaicism and 45,X: implications for postnatal outcome.

V. Sybert, D. Koeberl, B. McGillivray, 1995, American journal of human genetics.

Perinatal and first year follow‐up of patients with Prader‐Willi syndrome: normal size of hands and feet

M. Hayden, D. Chitayat, B. McGillivray, 1989, Clinical genetics.

Precise localisation of 3p25 breakpoints in four patients with the 3p-syndrome.

B. Mcgillivray, C. Venditti, D. Smith, 1996, Journal of medical genetics.

Multiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in PTPN11

D. Huntsman, K. Schrader, A. De Luca, 2009, Clinical genetics.

Genotype–phenotype analysis of 4q deletion syndrome: Proposal of a critical region

J. Rosenfeld, C. Stevens, C. Curry, 2012, American journal of medical genetics. Part A.

Implications of the age range in a population-based BRCA1 testing program with eligibility based on family history of breast and ovarian cancer.

R. Gallagher, M. Schechter, J. Raboud, 2004, Genetic testing.

A computer model to simulate family history of breast/ovarian cancer in BRCA1 mutation carriers.

R. Gallagher, M. Schechter, J. Raboud, 2001, Mathematical biosciences.

Characterization of a new X‐linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus

A. Rump, K. Poskitt, C. Boerkoel, 2009, American journal of medical genetics. Part A.

Confined chorionic mosaicism in prenatal diagnosis

D. Kalousek, B. McGillivray, R. D. Wilson, 1987, Human Genetics.

Evaluation of Group Genetic Counseling for Hereditary Breast and Ovarian Cancer

B. McGillivray, M. McCullum, K. Panabaker, 2009, Journal of Genetic Counseling.

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

Allen D. Delaney, M. Marra, A. Delaney, 2009, BMC Genomics.

Clinical variability within Brachmann-de Lange syndrome: a proposed classification system.

J. F. Magee, A. Toi, M. V. Van Allen, 1993, American journal of medical genetics.

Familial renal hypophosphatemia, minor facial anomalies, intracerebral calcifications, and non-rachitic bone changes: apparently new syndrome?

D. Chitayat, O. Flodmark, B. McGillivray, 1990, American journal of medical genetics.

Dicentric Y chromosome and mixed dysgenesis.

B. McGillivray, W. J. Tze, H. Johnson, 1988, The Journal of urology.

DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish-Polish-Russian descent.

B. McGillivray, D. Applegarth, C. Wei, 1994, American journal of medical genetics.

Bleeding diathesis in Noonan syndrome: a common association.

J. Opitz, J. Allanson, A. Zipursky, 1988, American journal of medical genetics.

Complete androgen insensitivity with a normal amount of 5 alpha-dihydrotestosterone-binding activity in labium majus skin fibroblasts.

M. Kaufman, L. Pinsky, B. McGillivray, 1979, American journal of medical genetics.

Familial 5q11.2----q13.3 segmental duplication cosegregating with multiple anomalies, including schizophrenia.

A. Bassett, S. Langlois, B. McGillivray, 1990, American journal of medical genetics.

Paraganglioma and pheochromocytoma upon maternal transmission of SDHD mutations

P. Devilee, W. Dinjens, E. Korpershoek, 2014, BMC Medical Genetics.

Unusual segregation products in sperm from a pericentric inversion 17 heterozygote

A. Rademaker, B. McGillivray, Renée H. Martin, 2005, Human Genetics.

Cost-effectiveness of MRI for breast cancer screening in BRCA1/2 mutation carriers

S. Peacock, S. Chia, L. Armstrong, 2013, BMC Cancer.

Pregnancy with uterine vascular malformations associated with hemorrhagic hereditary telangiectasia: a case report.

B. McGillivray, L. Dahlgren, D. Pugash, 2006, Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC.

Poland syndrome in British Columbia: incidence and reproductive experience of affected persons.

R. Lowry, B. McGillivray, 1977, American journal of medical genetics.

Evidence for multi-site closure of the neural tube in humans.

D. Chitayat, S. Langlois, D. Juriloff, 1993, American journal of medical genetics.

Children of incest.

B. Mcgillivray, B. McGillivray, P. Baird, 1982, The Journal of pediatrics.

Gonadal tumors in disorders of sexual differentiation.

B. Mcgillivray, B. McGillivray, R. Crawford, 1994, Urology.

Placental mosaicism and intrauterine survival of trisomies 13 and 18.

D. Kalousek, B. McGillivray, I. Barrett, 1989, American journal of human genetics.

Nonimmune hydrops fetalis: a multidisciplinary approach.

D. Carlton, M. Schreiber, B. McGillivray, 1989, Clinics in perinatology.

Genetic aspects of ambiguous genitalia.

B. Mcgillivray, B. McGillivray, 1992, Pediatric clinics of North America.

Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports

A. Moser, R. Pagon, B. Powell, 1990, Clinical genetics.

Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy

J. Schwartzentruber, M. McKinnon, S. Greenway, 2016, Human Mutation.

19p13.2 microduplication causes a Sotos syndrome‐like phenotype and alters gene expression

D. Goldowitz, P. Eydoux, B. McGillivray, 2012, Clinical genetics.

Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14

M. Marra, K. Buysse, G. Mortier, 2007, Journal of Medical Genetics.

Methylation profiling in individuals with Russell–Silver syndrome

C. Boerkoel, S. Langlois, D. Metzger, 2010, American journal of medical genetics. Part A.

Transmission of the fra(X) haplotype from three nonpenetrant brothers to their affected grandsons.

D. Yan, J. Hamerton, C. Greenberg, 1992, American journal of medical genetics.

A grandpaternally derived de novo deletion within Xp21 initially presenting in carrier females diagnosed as Kugelberg-Welander syndrome.

R. Shukin, P. Ray, R. Worton, 1988, American journal of medical genetics.

Exome Sequencing Identifies SMAD3 Mutations as a Cause of Familial Thoracic Aortic Aneurysm and Dissection With Intracranial and Other Arterial Aneurysms

M. Rieder, J. Shendure, D. Nickerson, 2011, Circulation research.

Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID)

P. Pavlidis, F. Bernier, A. Chudley, 2014, BMC Medical Genetics.

Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1

E. Mickelson, B. McGillivray, J. Hall, 2006, Journal of Medical Genetics.

Prenatally detected trisomy 20 mosaicism

W. Robinson, D. Kalousek, B. McGillivray, 2005, Prenatal diagnosis.

Anterior segment dysgenesis and congenital glaucoma associated with partial trisomy of chromosome 1 (1q32-qter).

D. Broadway, B. McGillivray, C. Lyons, 1998, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

A deletion map of the WAGR region on chromosome 11.

C. Junien, M. Gessler, G. Bruns, 1989, American journal of human genetics.

Additional deletion in sex-determining region of human Y chromosome resolves paradox of X,t(Y;22) female

L. Brown, D. Page, E. Fisher, 1990, Nature.

BPES with atypical premature ovarian insufficiency, and evidence of mitotic recombination, in a woman with trisomy X and a translocation t(3;11)(q22.3;q14.1)

H. Bruyèrè, P. Eydoux, B. McGillivray, 2012, American journal of medical genetics. Part A.

Pregnancy and postnatal outcome of mosaic isochromosome 20q

B. McGillivray, W. Robinson, J. M. Friedman, 2007, Prenatal diagnosis.

X chromosome aneuploidy in lymphocyte cultures from women with recurrent spontaneous abortions.

D. Horsman, D. Kalousek, B. McGillivray, 1987, American journal of medical genetics.

Part II. Amyoplasia: twinning in amyoplasia--a specific type of arthrogryposis with an apparent excess of discordantly affected identical twins.

S. Reed, D. Weaver, A. Schinzel, 1983, American journal of medical genetics.

Elucidation of a cryptic interstitial 7q31.3 deletion in a patient with a language disorder and mild mental retardation by array‐CGH

B. McGillivray, E. Rajcan-Separovic, C. Tyson, 2004, American journal of medical genetics. Part A.

Linkage analysis of 26 Canadian breast and breast-ovarian cancer families

N. Boyd, P. Tonin, J. Simard, 1995, Human Genetics.

A Clinical Classification Scheme for Tracheobronchomegaly (Mounier-Kuhn Syndrome)

A. Lehman, B. McGillivray, J. Swiston, 2015, Lung.

Redefining the Etiologic Landscape of Cerebellar Malformations.

I. Krantz, D. Nickerson, G. Seelig, 2019, American journal of human genetics.

Hypospadias in British Columbia.

B. McGillivray, P. Baird, T. Leung, 1985, American journal of medical genetics.

The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height.

N. de Leeuw, B. D. de Vries, W. Reardon, 2009, European journal of medical genetics.

Tuberous sclerosis: casereport andinvestigation offamily members

B. McGillivray, R. D. Wilson, J. Hall, 1985 .

Deletion of chromosome 21 disturbs human brain

J. Korenberg, J. Moeschler, G. Barlow, 2006 .

Deletion of chromosome 21 disturbs human brain morphogenesis

J. Korenberg, J. Moeschler, G. Barlow, 2006, Genetics in Medicine.

Manifestations in a family with autosomal dominant bone fragility and limb‐girdle myopathy

S. Mehta, V. Kimonis, S. Mumm, 2006, American journal of medical genetics. Part A.

Interstitial 7q deletion [46,XX,del(7)(pter----q21.1::q22----qter)] and the location of genes for beta-glucuronidase and cystic fibrosis.

D. Chitayat, S. Langlois, D. Kalousek, 1988, American journal of medical genetics.

Infantile autism: an occasional manifestation of fragile (X) mental retardation.

B. McGillivray, D. S. Herbst, F. Dill, 1986, American journal of medical genetics.

Expanding the clinical phenotype of hereditary BAP1 cancer predisposition syndrome, reporting three new cases

L. Strong, M. Abdel-Rahman, C. Cebulla, 2014, Genes, chromosomes & cancer.

Williams syndrome in adults.

J. Friedman, B. McGillivray, E. Lopez-Rangel, 1992, American journal of medical genetics.

Precise localisation of 3p25 breakpoints in four patients with the 3p-syndrome.

David I. Smith, B. Mcgillivray, C. Venditti, 1996, Journal of medical genetics.

Understanding the impact of 1q21.1 copy number variant

P. Pavlidis, E. Strong, M. O’Driscoll, 2011, Orphanet journal of rare diseases.

Sperm chromosome analysis in a man heterozygous for a reciprocal translocation 46,XY t(12;20)(q24.3;q11).

B. McGillivray, K. Hildebrand, E. Ko, 1990, Human reproduction.

Germinal mosaicism in Duchenne muscular dystrophy

B. McGillivray, S. Wood, 1988, Human Genetics.

Segregation analysis of microcephaly.

A. Chakravarti, C. Aston, B. McGillivray, 1996, American journal of medical genetics.

Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH

F. Bernier, P. Macleod, A. Chudley, 2008, Molecular Cytogenetics.

Prenatal Genetic Counselling: The Family Physician's Role in Assessment SUMMARY

B. McGillivray, 2008 .

Normal male carriers in the fra(X) form of X-linked mental retardation (Martin-Bell syndrome).

U. Froster-Iskenius, B. McGillivray, J. Hall, 1986, American journal of medical genetics.

The newborn with ambiguous genitalia.

B. McGillivray, B. Mcgillivray, 1992, Seminars in perinatology.

A severe phenotype of Gitelman syndrome with increased prostaglandin excretion and favorable response to indomethacin

N. Larkins, M. Wallis, B. McGillivray, 2014, Clinical kidney journal.

Prenatal diagnosis of 45,X/46,XX mosaicism and 45,X: implications for postnatal outcome.

V. Sybert, D. Koeberl, B. McGillivray, 1995, American journal of human genetics.