B. Mcgillivray

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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.

The newborn with ambiguous genitalia.

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

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.

Correction

C. Sempoux, J. R., Jm, 2011, Journal of Medical Genetics.

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.

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.

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 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.

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.

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.

A deletion map of the WAGR region on chromosome 11.

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

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.

Williams syndrome in adults.

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

Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy

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

Deletion of chromosome 21 disturbs human brain morphogenesis

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

Deletion of chromosome 21 disturbs human brain

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

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.

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.

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.

Evaluation of Group Genetic Counseling for Hereditary Breast and Ovarian Cancer

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

Confined chorionic mosaicism in prenatal diagnosis

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

Prenatally detected trisomy 20 mosaicism

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

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.

Understanding the impact of 1q21.1 copy number variant

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

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

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

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.

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

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

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.

Methylation profiling in individuals with Russell–Silver syndrome

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

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.

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.

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

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

Unusual segregation products in sperm from a pericentric inversion 17 heterozygote

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

Placental mosaicism and intrauterine survival of trisomies 13 and 18.

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

Fetal neuropathology of proliferative vasculopathy and hydranencephaly-hydrocephaly with multiple limb pterygia.

M. Norman, B. Mcgillivray, 1988, Pediatric Neuroscience.

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.

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.

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

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

Paraganglioma and pheochromocytoma upon maternal transmission of SDHD mutations

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

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.

Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy

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

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

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

Clinical and ultrastructural heterogeneity of type IV Ehlers-Danlos syndrome

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

Redefining the Etiologic Landscape of Cerebellar Malformations.

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

Dicentric Y chromosome and mixed dysgenesis.

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

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.

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.