List of works - Patrick Scott

A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients

scientific article published on 26 November 2019

A second ALS patient having an L67P mutation in exon 3 of the Cu/Zn superoxide dismutase gene

article

Co-inheritance of the membrane frizzled-related protein ocular phenotype and glycogen storage disease type Ib.

scientific article published on 16 May 2017

Cytogenetic analysis of a parachordoma.

scientific article

DNA replication asynchrony between the paternal and maternal alleles of imprinted genes does not straddle the R/G transition

scientific article published on 01 November 1997

Defining the Role of Laboratory Genetic Counselor

scientific article published on 11 November 2011

Endothelial ultrastructural alterations of intramuscular capillaries in infantile mitochondrial cytopathies: "mitochondrial angiopathy".

scientific article published on 12 March 2012

Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual Disability

scientific article published on 24 October 2018

Familial amyotrophic lateral sclerosis in Alberta, Canada ⬇️

scientific article published on 04 January 2013

Frequency and phenotypic consequences of the 3199del6 CFTR mutation in French Canadians

scientific article published on 01 March 2005

Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience.

scientific article

Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany.

scientific article published in February 2007

Neonatal hyperphenylalaninemia, perinatal hemochromatosis, and renal tubulopathy: a unique patient or a novel metabolic disorder?

scientific article published on 21 September 2005

Newborn screening for cystic fibrosis in Alberta: Two years of experience ⬇️

scientific article published on November 1, 2010

Occurrence of Optic Neuritis and Cervical Cord Schwannoma with Charcot-Marie-Tooth Type 4B1 Disease

scientific article

Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport

scientific article

Prenatal diagnosis for severe methylenetetrahydrofolate reductase deficiency by linkage analysis and enzymatic assay.

scientific article published in April 2005

Recessive distal motor neuropathy with pyramidal signs in an Omani kindred: underlying novel mutation in the SIGMAR1 gene

scientific article published on 8 November 2017

Report on the p.Ser489X (p.Ser489*) CFTR mutation, a variant with severe associated phenotype and high prevalence in a Quebec French-Canadian cystic fibrosis patient population ⬇️

scientific article published on May 24, 2012

Segmental Spinal Muscular Atrophy Localised to the Lower Limbs: First case from Oman.

scientific article

Suggestive evidence for a susceptibility gene near the vitamin D receptor locus in idiopathic calcium stone formation

scientific article published on 01 May 1999

The 1 alpha-hydroxylase locus is not linked to calcium stone formation or calciuric phenotypes in French-Canadian families.

scientific article published in March 1998

Toward optimal detection of the common prenatal aneuploidies by quantitative fluorescent-polymerase chain reaction: comparison of two commercial assays.

scientific article

Underdiagnoses resulting from variant misinterpretation: Time for systematic reanalysis of whole exome data?

scientific article published on 27 April 2018

List of works by Patrick Scott

A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients

A second ALS patient having an L67P mutation in exon 3 of the Cu/Zn superoxide dismutase gene

Co-inheritance of the membrane frizzled-related protein ocular phenotype and glycogen storage disease type Ib.

Cytogenetic analysis of a parachordoma.

DNA replication asynchrony between the paternal and maternal alleles of imprinted genes does not straddle the R/G transition

Defining the Role of Laboratory Genetic Counselor

Endothelial ultrastructural alterations of intramuscular capillaries in infantile mitochondrial cytopathies: "mitochondrial angiopathy".

Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual Disability

Familial amyotrophic lateral sclerosis in Alberta, Canada ⬇️

Frequency and phenotypic consequences of the 3199del6 CFTR mutation in French Canadians

Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience.

Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany.

Neonatal hyperphenylalaninemia, perinatal hemochromatosis, and renal tubulopathy: a unique patient or a novel metabolic disorder?

Newborn screening for cystic fibrosis in Alberta: Two years of experience ⬇️

Occurrence of Optic Neuritis and Cervical Cord Schwannoma with Charcot-Marie-Tooth Type 4B1 Disease

Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport

Prenatal diagnosis for severe methylenetetrahydrofolate reductase deficiency by linkage analysis and enzymatic assay.

Recessive distal motor neuropathy with pyramidal signs in an Omani kindred: underlying novel mutation in the SIGMAR1 gene

Report on the p.Ser489X (p.Ser489*) CFTR mutation, a variant with severe associated phenotype and high prevalence in a Quebec French-Canadian cystic fibrosis patient population ⬇️

Segmental Spinal Muscular Atrophy Localised to the Lower Limbs: First case from Oman.

Suggestive evidence for a susceptibility gene near the vitamin D receptor locus in idiopathic calcium stone formation

The 1 alpha-hydroxylase locus is not linked to calcium stone formation or calciuric phenotypes in French-Canadian families.

Toward optimal detection of the common prenatal aneuploidies by quantitative fluorescent-polymerase chain reaction: comparison of two commercial assays.

Underdiagnoses resulting from variant misinterpretation: Time for systematic reanalysis of whole exome data?