P. Macleod

发表

Identification of germ-line E-cadherin mutations in gastric cancer families of European origin.

Kylie L. Gorringe, B. Ponder, C. Caldas, 1998, Cancer research.

Unfolded MeCP 2 Protein 0 100 200 300 400 500 P 127 L N C Methyl-CpG-Nuclear Transcription binding domain localisation repression domain

H. G. Dunn, P. Macleod, 2002 .

Epidemiological, clinical, and molecular characterization of Cuban families with spinocerebellar ataxia type 3/Machado-Joseph disease

R. Rodríguez-Labrada, L. Velázquez-Pérez, Y. Vázquez-Mojena, 2015, Cerebellum & Ataxias.

Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients

Í. Lopes-Cendes, S. Kish, R. Rosenberg, 1996, Neurology.

Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase with reduced affinity for PP-ribose-P in four related males with gout

A. Chudley, P. Macleod, E. Fung, 2004, Human Genetics.

Association of glutathione S-transferase omega polymorphism and spinocerebellar ataxia type 2

R. Rodríguez-Labrada, L. Velázquez-Pérez, Y. Vázquez-Mojena, 2017, Journal of the Neurological Sciences.

Clinical and ultrastructural heterogeneity of type IV Ehlers-Danlos syndrome

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

Early gastric cancer in young, asymptomatic carriers of germ-line E-cadherin mutations.

C. Caldas, D. Huntsman, R. Seruca, 2001, The New England journal of medicine.

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

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

Correlation betweenCAG RepeatLengthandClinical Features inMachado-Joseph Disease

P. Maciel, P. Coutinho, J. Sequeiros, 1995 .

Characterization of mutations in six L-CPT-I deficient patients

J. McGarry, J. Saudubray, P. Macleod, 2001 .

A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease.

L. Cupples, A. DeStefano, P. Maciel, 1996, American journal of human genetics.

Fibrosing mediastinitis: successful stenting of the pulmonary artery.

J. Seely, P. Macleod, F. Matzinger, 2008, Canadian respiratory journal.

Inverted duplication with terminal deletion of 5p and no cat‐like cry

Bradley P. Coe, B. Coe, J. Schein, 2008, American journal of medical genetics. Part A.

A familial contiguous gene deletion syndrome at Xp22.3 characterized by severe learning disabilities and ADHD

K. Boycott, J. Ross, N. Bech-Hansen, 2003, American journal of medical genetics. Part A.

Lipofuscin and its Relation to Aging

C. L. Dolman, P. Macleod, 1981 .

Isoniazid therapy of Huntington disease

P. Macleod, T. Perry, S. Hansen, 1979, Neurology.

Linkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins

Í. Lopes-Cendes, L. Farrer, A. DeStefano, 1996, Human Genetics.

Additional case of de novo interstitial deletion del(17)(q21.3q23) and expansion of the phenotype

A. Duncan, P. Macleod, M. Khalifa, 1993, Clinical 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.

Failure of aminooxyacetic acid therapy in Huntington disease

P. Macleod, T. Perry, S. Hansen, 1980, Neurology.

Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme.

M. Bennett, J. McGarry, J. Saudubray, 2001, Journal of lipid research.

Methylcitrate in maternal urine during a pregnancy with a fetus affected with propionic acidaemia

W. Nyhan, D. Lehotay, P. Macleod, 1989, Journal of Inherited Metabolic Disease.

Fine structure of cutaneous nerves in ganglioside storage disease.

C. L. Dolman, P. Macleod, E. Chang, 1977, Journal of neurology, neurosurgery, and psychiatry.

Xp21/autosome translocations

A. Duncan, P. Macleod, J. Holden, 1986, Clinical genetics.

Longevity in Rett syndrome: analysis of the North American Database.

S. Skinner, R. Kirby, D. Glaze, 2010, The Journal of pediatrics.

Rett Syndrome: North American Database

S. Skinner, D. Glaze, A. Percy, 2007, Journal of child neurology.

Large Normal and Intermediate Alleles in the Context of SCA2 Prenatal Diagnosis

L. Velázquez-Pérez, Y. Vázquez-Mojena, Y. González-Zaldívar, 2014, Journal of Genetic Counseling.

The familial nature of multiple sclerosis

A. Sadovnick, P. Macleod, A. Sadovnick, 1981, Neurology.

Gonadal mosaicism in a family with adrenoleukodystrophy: Molecular diagnosis of carrier status among daughters of a gonadal mosaic when direct detection of the mutation is not possible

D. Lillicrap, P. Macleod, P. Bridge, 1992, Journal of Inherited Metabolic Disease.

Placental findings in alcohol abuse in pregnancy.

K. Benirschke, P. Macleod, V. Baldwin, 1982, Birth defects original article series.

Laboratory diagnosis of inborn errors of metabolism in children.

P. Macleod, D. Applegarth, J. Toone, 1983, Pediatric pathology.

Megestrol acetate in relapsed carcinoma of prostate.

P. Macleod, C. Tyrrell, F. Daniel, 1990, British journal of urology.

The use of simultaneous radiotherapy and 5-flurouracil in patients with inoperable squamous cell lung cancer.

D. Ash, P. Macleod, S. Kelly, 1989, Clinical radiology.

Progressive cerebeilar ataxia, spasticity, psychomotor retardation, and hexosaminidase deficiency in a 10‐year‐old child

C. L. Dolman, P. Macleod, J. Jan, 1977, Neurology.

Strontium-89 chloride for pain palliation in prostatic skeletal malignancy.

A. McEwan, V. Lewington, P. Macleod, 1991, The British journal of radiology.

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

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

Machado Joseph disease is not an allele of the spinocerebellar ataxia 2 locus

L. Farrer, R. Rosenberg, G. Rouleau, 1994, Human Genetics.

Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus.

L. Farrer, R. Rosenberg, G. Rouleau, 1995, Journal of medical genetics.

The Machado-Joseph disease locus is different from the spinocerebellar ataxia locus (SCA1).

L. Farrer, R. Rosenberg, G. Rouleau, 1992, Genomics.

The effect of cisplatin on renal function in patients with testicular tumours.

P. Macleod, C. Tyrell, D. Keeling, 1988, Clinical radiology.

Prenatal diagnosis of neuronal ceroid-lipofuscinoses.

J. Opitz, S. Nag, R. Nickel, 1985, American journal of medical genetics.

Prenatal diagnosis of neuronal ceroid lipofuscinosis.

R. Nickel, J. Zonana, C. L. Dolman, 1984, The New England journal of medicine.

Ultrastructural studies as a method of prenatal diagnosis of neuronal ceroid-lipofuscinosis.

J. Opitz, S. Nag, S. Nag, 1988, American journal of medical genetics. Supplement.

The neuronal ceroid lipofuscinoses in British Columbia: a clinical epidemiologic and ultrastructural study.

B. Bryant, C. L. Dolman, P. Macleod, 1976, Birth defects original article series.

Skin Punch Biopsies and Lymphocytes in the Diagnosis of Lipidoses

C. L. Dolman, P. Macleod, E. Chang, 1975, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Syndrome of ankylosis, facial anomalies, and pulmonary hypoplasia: a pathologic analysis of one infant.

D. Hardwick, P. Macleod, J. Dimmick, 1977, Birth defects original article series.

Neuronal Ceroid-Lipofuscinosis

C. L. Dolman, P. Macleod, 1977 .

disease . nerves in ganglioside storage Fine structure of cutaneous

C. L. Dolman, P. Macleod, E. Chang, 2022 .

Phase II study of alternating chemotherapy regimens for advanced non-small cell lung cancer.

D. Maziak, F. Shamji, P. Macleod, 2004, Lung cancer.

Localization of X-linked dominant Charcot-Marie-Tooth disease (CMT 2) to Xq13.

N. Simpson, B. White, P. Macleod, 1986, Journal of neurogenetics.

Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria

W. Foulkes, Y. Butterfield, C. Caldas, 2004, Journal of Medical Genetics.

Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in rett syndrome

A. Percy, J. Lane, P. Macleod, 2013, American journal of medical genetics. Part A.

Possible new autosomal recessive syndrome with unusual renal histopathological changes.

J. Allanson, P. Macleod, J. Pantzar, 1983, American journal of medical genetics.

Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis.

Hanlee P. Ji, M. King, K. Heimdal, 1997, American journal of human genetics.

Spontaneous subcutaneous and mediastinal emphysema--a complication of lung function tests in Pneumocystis carinii pneumonia.

P. Macleod, C. Tyrell, S. Ramakrishnan, 1988, Postgraduate medical journal.

Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2

J. Christodoulou, H. Leonard, D. Ravine, 2005, Journal of Medical Genetics.

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.

E. Zackai, A. Guttmacher, M. Bamshad, 2005, American journal of human genetics.

Rett Syndrome: Investigation of Nine Patients, including PET Scan

K. Poskitt, D. Doudet, B. Koop, 2002, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Predictive, pre‐natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000

B. Fernandez, M. Hayden, W. Meschino, 2003, Clinical genetics.

A prospective, randomised double-blind crossover study to examine the efficacy of strontium-89 in pain palliation in patients with advanced prostate cancer metastatic to bone.

A. McEwan, A. Porter, V. Lewington, 1991, European journal of cancer.

Partial ornithine carbamyl transferase deficiency: an inborn error of the urea cycle presenting as orotic aciduria in a male infant.

C. Scriver, P. Macleod, S. Mackenzie, 1972, Canadian Medical Association journal.

Novel mutations in the connexin 32 gene associated with X‐linked Charcot‐Marie tooth disease

P. Ainsworth, A. Hahn, P. Macleod, 1994, Human mutation.

Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders

S. Scherer, C. Cytrynbaum, C. Marshall, 2018, Journal of Medical Genetics.

The role of radiotherapy in in-situ carcinoma of the larynx.

P. Macleod, F. Daniel, 1990, International journal of radiation oncology, biology, physics.

From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2

J. Vincent, J. Ausió, H. Faghfoury, 2016, Scientific Reports.

Growth hormone response in fetal alcohol syndrome.

H. Friesen, P. Macleod, W. J. Tze, 1976, Archives of disease in childhood.

MECP2 recurrent mutation in exon 1 of Lost in translation: translational interference from a

J. Christodoulou, H. Leonard, P. Macleod, 2008 .

Clinical Stringency Greatly Improves Mutation Detection in Rett Syndrome

J. Vincent, C. Saunders, G. Rouleau, 2005, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Juvenile xanthogranuloma of the iris managed with superficial radiotherapy.

P. Macleod, 1986, Clinical Radiology.

Congenital contractural arachnodactyly. A heritable disorder of connective tissue distinct from Marfan syndrome.

P. Macleod, F. Fraser, 1973, American journal of diseases of children.

Treatment of Huntington's chorea with isoniazid.

P. Macleod, T. Perry, S. Hansen, 1977, The New England journal of medicine.

Recurrent abortion and amino-acid abnormalities

P. Macleod, D. Applegarth, D. Shaw, 1991, Journal of Inherited Metabolic Disease.

SHORT REPORT Recurrent abortion and amino-acid abnormalities

P. Macleod, D. Applegarth, D. Shaw, 1991 .

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

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

Rett Syndrome: Review of Biological Abnormalities

H. G. Dunn, P. Macleod, 2001, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.

M. Zatz, G. Rouleau, P. Drapeau, 2007, American journal of human genetics.

Growth and development in thanatophoric dysplasia.

I. MacDonald, S. MacMurray, A. Hunter, 1989, American journal of medical genetics.

One‑carbon metabolism factor MTHFR variant is associated with saccade latency in Spinocerebellar Ataxia type 2

R. Rodríguez-Labrada, L. Velázquez-Pérez, Y. Vázquez-Mojena, 2019, Journal of the Neurological Sciences.

A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome

S. Scherer, J. Vincent, M. Friez, 2004, Nature Genetics.

Forget cloning sheep and pay attention to China.

P. Macleod, C. Fraser, 1998, CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne.

Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy

Steven J. M. Jones, P. Ruben, G. Horvath, 2017, American journal of medical genetics. Part A.

Epidemiological, clinical, and molecular characterization of Cuban families with spinocerebellar ataxia type 3/Machado-Joseph disease

R. Rodríguez-Labrada, L. Velázquez-Pérez, Y. Vázquez-Mojena, 2015, Cerebellum & Ataxias.

Intrinsic defects in the fetal alcohol syndrome: studies on 76 cases from British Columbia and the Yukon Territory.

D. E. Newman, S. Tredwell, P. Macleod, 1981, Neurobehavioral toxicology and teratology.

Chromosomes, syndromes, and perinatal deaths: the genetic counseling value of making a diagnosis in a malformed abortus, stillborn, and deceased newborn.

D. Hardwick, P. Macleod, F. Dill, 1979, Birth defects original article series.

Molecular breakpoint mapping of 6q11‐q14 interstitial deletions in seven patients

M. Shago, A. Teebi, P. Eydoux, 2009, American journal of medical genetics. Part A.

Cardiac malformations in the fetal alcohol syndrome.

P. Macleod, G. Sardor, D. Smith, 1981, The Journal of pediatrics.

Carrier detection and prenatal diagnosis of Pelizaeus-Merzbacher disease using a combination of anonymous DNA polymorphisms and the proteolipid protein (PLP) gene cDNA.

D. Lillicrap, P. Macleod, P. Bridge, 1991, American journal of medical genetics.

LABORATORY DIAGNOSIS OF INBORN ERRORS OF METABOLISM IN CHILDREN

P. Macleod, D. Applegarth, J. Toone, 1983 .

Low predisposition to instability of the Friedreich ataxia gene in Cuban population

J. L. Mesa, P. Macleod, N. C. Ochoa, 2010, Clinical genetics.

Machado-Joseph disease: linkage analysis between the loci for the disease and 18 protein markers.

N. Simpson, P. Macleod, S. Myers, 1986, Cytogenetics and Cell Genetics.

DNA marker studies show that Machado Joseph disease is not an allele of the Huntington disease locus.

B. White, P. Macleod, J. Holden, 1989, Journal of neurogenetics.

Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in rett syndrome

A. Percy, J. Lane, P. Macleod, 2013, American journal of medical genetics. Part A.

Recurrent respiratory infections in a child with fucosidosis: Is the mucus too thin for effective transport?

B. Rubin, J. Sturgess, P. Macleod, 1991, Pediatric pulmonology.