List of works - Andrea M. Richter

A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis

scientific article

ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF

scientific article

Alteration of biological samples in speciation analysis of metalloproteins

scientific article published on 3 August 2007

Analysis of the CC chemokine receptor 5Delta32 polymorphism in pediatric liver transplant recipients

scientific article published on 08 January 2008

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): high-resolution physical and transcript map of the candidate region in chromosome region 13q11.

scientific article

Autosomal recessive spastic ataxia of Charlevoix–Saguenay

article published in 1998

Cirhin up-regulates a canonical NF-kappaB element through strong interaction with Cirip/HIVEP1

scientific article

Clinical and molecular genetic studies on autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

scientific article published on January 1993

Clinical relevance of autoantibodies after pediatric liver transplantation

scientific article published on May 2007

Correction: Rare Copy Number Variants Contribute to Congenital Left-Sided Heart Disease

Design and rationale of a genetic cohort study on congenital cardiac disease: experiences from a multi-institutional platform in Quebec

Diaphragmatic hernia resulting in enterothorax following pediatric liver transplantation: a rare complication

scientific article

Diversity of ARSACS mutations in French-Canadians

scientific article

Effects of concurrent topotecan and radiation on 6-month progression-free survival in the primary treatment of glioblastoma multiforme

scientific article published in September 2009

Effects of distinct collybistin isoforms on the formation of GABAergic synapses in hippocampal neurons

scientific article published on 30 May 2012

Emergency liver transplantation in neonates with acute liver failure: long-term follow-up

scientific article published on October 2008

HPLC quantification of metoprolol with solid-phase extraction for the drug monitoring of pediatric patients

scientific article

Hydrogel increases diclofenac skin permeation and absorption

scientific article published on 18 July 2019

Liver transplantation in children with progressive familial intrahepatic cholestasis

scientific article published on November 2007

Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11.

scientific article

Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

scientific article published on 17 January 2012

Neonatal cholestasis and glucose-6-P-dehydrogenase deficiency.

scientific article published in May 2010

Neonatal hemochromatosis: long-term experience with favorable outcome

scientific article published on 01 November 2006

Neonates with severe infantile hepatic hemangioendothelioma: limitations of liver transplantation

scientific article published on 03 November 2008

North American Indian childhood cirrhosis (NAIC)

scientific article

Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis

scientific article

Oncogenic features of the bone morphogenic protein 7 (BMP7) in pheochromocytoma.

scientific article published on 18 August 2015

Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey

scientific article

RET Gly691Ser mutation is associated with primary vesicoureteral reflux in the French-Canadian population from Quebec.

scientific article

Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay

scientific article

Rare copy number variants contribute to congenital left-sided heart disease

scientific article

Revealing the spatial distribution of chemical species within latent fingermarks using vibrational spectroscopy

scientific article published on 01 August 2018

Risk of congenital heart defects is influenced by genetic variation in folate metabolism

scientific article

Tacrolimus-induced cholestatic syndrome following pediatric liver transplantation and steroid-resistant graft rejection

scientific article published on 01 March 2006

The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects

scientific article

List of works by Andrea M. Richter

A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis

ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF

Alteration of biological samples in speciation analysis of metalloproteins

Analysis of the CC chemokine receptor 5Delta32 polymorphism in pediatric liver transplant recipients

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): high-resolution physical and transcript map of the candidate region in chromosome region 13q11.

Autosomal recessive spastic ataxia of Charlevoix–Saguenay

Cirhin up-regulates a canonical NF-kappaB element through strong interaction with Cirip/HIVEP1

Clinical and molecular genetic studies on autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

Clinical relevance of autoantibodies after pediatric liver transplantation

Correction: Rare Copy Number Variants Contribute to Congenital Left-Sided Heart Disease

Design and rationale of a genetic cohort study on congenital cardiac disease: experiences from a multi-institutional platform in Quebec

Diaphragmatic hernia resulting in enterothorax following pediatric liver transplantation: a rare complication

Diversity of ARSACS mutations in French-Canadians

Effects of concurrent topotecan and radiation on 6-month progression-free survival in the primary treatment of glioblastoma multiforme

Effects of distinct collybistin isoforms on the formation of GABAergic synapses in hippocampal neurons

Emergency liver transplantation in neonates with acute liver failure: long-term follow-up

HPLC quantification of metoprolol with solid-phase extraction for the drug monitoring of pediatric patients

Hydrogel increases diclofenac skin permeation and absorption

Liver transplantation in children with progressive familial intrahepatic cholestasis

Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11.

Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

Neonatal cholestasis and glucose-6-P-dehydrogenase deficiency.

Neonatal hemochromatosis: long-term experience with favorable outcome

Neonates with severe infantile hepatic hemangioendothelioma: limitations of liver transplantation

North American Indian childhood cirrhosis (NAIC)

Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis

Oncogenic features of the bone morphogenic protein 7 (BMP7) in pheochromocytoma.

Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey

RET Gly691Ser mutation is associated with primary vesicoureteral reflux in the French-Canadian population from Quebec.

Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay

Rare copy number variants contribute to congenital left-sided heart disease

Revealing the spatial distribution of chemical species within latent fingermarks using vibrational spectroscopy

Risk of congenital heart defects is influenced by genetic variation in folate metabolism

Tacrolimus-induced cholestatic syndrome following pediatric liver transplantation and steroid-resistant graft rejection

The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects