P. Ferreira

发表

Gaucher Disease with Prenatal Onset and Perinatal Death Due to Compound Heterozygosity for the Missense R131C and Null RecNciI GBA Mutations

Evan W. Matshes, April Goebl, F. Choy, 2011, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Jonathan E. Dickerson, R. Schiffmann, J. Tolmie, 2012, Nature Genetics.

Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.

H. Venselaar, L. Kluijtmans, J. Hoenderop, 2014, Journal of the American Society of Nephrology : JASN.

Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition

F. Bernier, J. Parboosingh, P. Bridge, 2005, Journal of Medical Genetics.

ALG9-CDG: New clinical case and review of the literature

X. Wei, Xueli Li, M. He, 2017, Molecular genetics and metabolism reports.

Novel insertion mutation in a non-Jewish Caucasian type 1 Gaucher disease patient.

F. Choy, P. Ferreira, M. Humphries, 1997, American journal of medical genetics.

Severe retinal degeneration in a patient with Canavan disease

I. MacDonald, P. Freund, J. Sass, 2020, Ophthalmic genetics.

Leukoencephalopathy with Calcifications and Cysts: A Purely Neurological Disorder Distinct from Coats Plus

Y. Crow, H. Stewart, K. Õunap, 2014, Neuropediatrics.

Hydrops fetalis associated with erythrocyte pyruvate kinase deficiency

E. Costa, J. Barbot, P. Ferreira, 2000, European Journal of Pediatrics.

Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles.

N. Tang, F. Choy, Wei-min Zhang, 2007, Blood cells, molecules & diseases.

NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern

A. Vanderver, R. Rodenburg, P. Heutink, 2013, Neurology.

Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase Deficiency.

B. Wolf, A. Chan, P. Ferreira, 2017, JIMD reports.

MRI as diagnostic tool in early-onset peroxisomal disorders

S. Ferdinandusse, H. Waterham, M. S. van der Knaap, 2012, Neurology.

Multiple metachromatic leucodystrophy alleles in an unaffected subject: a case of dispermic chimaerism

M. Coulter-Mackie, M. Ludman, P. Ferreira, 2001, Journal of medical genetics.

Whole‐exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study

M. Tarnopolsky, K. Boycott, D. Bulman, 2015, Clinical genetics.

Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints

B. Emanuel, M. Budarf, D. Driscoll, 1998, Cytogenetic and Genome Research.

Hypertryptophanemia due to tryptophan 2,3-dioxygenase deficiency.

Patrick Ferreira, Deborah Dewey, Aimin Liu, 2017, Molecular genetics and metabolism.

Adams Oliver syndrome: a family with extreme variability in clinical expression.

P. Kaurah, J. S. Bamforth, J. Byrne, 1994, American journal of medical genetics.

Late diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblings

K. Boycott, D. Dyment, S. Sawyer, 2015, Neurology: Genetics.

Familial complex chromosomal rearrangement resulting in duplication/deletion of 6q1c to 6q16

R. Lowry, C. Lin, P. Ferreira, 1993, Clinical genetics.

Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene

W. Sly, N. Shimozawa, Yasuyuki Suzuki, 1997, Human mutation.

Congenital hiatal hernia segregating with a duplication in 9q22.31q22.32 in two families

A. Innes, K. Hackmann, B. Argiropoulos, 2020, American journal of medical genetics. Part A.

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

L. Lagae, A. Vanderver, R. Schiffmann, 2016, Nature Genetics.

Severe Congenital Protein C Deficiency: Practical Aspects of Management

P. Ferreira, Ravi M. Shah, Doan Le, 2016, Pediatric Blood & Cancer.

Lin‐Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders

Ping-Yee B Au, A. Innes, J. Parboosingh, 2017, American journal of medical genetics. Part A.

Oculomotor apraxia and dilated cardiomyopathy with ataxia syndrome: A case report

I. MacDonald, P. Ferreira, M. D. Benson, 2017, Ophthalmic genetics.

Heterologous expression and characterization of a rare Gaucher disease mutation (c.481C > T) from a Canadian aboriginal population using archival tissue samples.

G. Sinclair, F. Choy, P. Ferreira, 2001, Molecular genetics and metabolism.

Vitamin D–Binding Protein Deficiency and Homozygous Deletion of the GC Gene

C. Henderson, A. Hoofnagle, Julien L. Marcadier, 2019, The New England journal of medicine.

Plasmapheresis as an effective treatment for opsoclonus-myoclonus syndrome.

P. Ferreira, V. Yiu, T. Kovithavongs, 2001, Pediatric neurology.