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Site Contents
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Charles Scriver Online Courses
Charles Scriver courses and MMBID Chapters and Updates
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David Rosenblatt Online Chapters
BIOL 575
Human Biochemical Genetics 2007
Chapters 94 and 155
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Nancy Braverman Online Courses
Nancy Braverman Online Courses
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Jacques Genest Online Courses
Hum Biol Genet 575
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Peter Roughley Online Courses
Collagen Genetics 2009 lectures
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Serge Melancon Online Courses
Serge Melancon Online Courses
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Lenore Beitel Online Courses
Lenore Beitel Online Courses
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Molecular Genetics Laboratory
The molecular genetics laboratory at the Montreal Childrens Hospital is committed to developing state of the art DNA tests for genetic disease diagnostics . In addition to performing routine DNA tests for genetic disease, we are involved in the application of new technology for the development of novel and improved tests for genetic diseases. For example, the laboratory is moving towards faster multiplex-PCR and semi-automated, fluorescent-based, DNA analysis along with dHPLC technology for the rapid screening of genes for the detection of unknown mutations. The laboratory also participates in the College of American Pathologists proficiency-testing program in molecular diagnostics.
www.moleculargenetics.mcgill.ca
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Residency Program Lectures
Online Schedules and Presentations for the Residency
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Useful Tools
We provide links to some of the most useful software you will ever needed and this
without costing nothing as they are governed by Open Source Policies. Hence they are totaly
free of charge and distributable as many time as you want.
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| Databases |
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BH4 Project
Intranet Project
BH4 Project
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Carrier Screening Program
Intranet Project
Carrier Screening Program
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CASRdb: Calcium Sensing Receptor Database
CASR is a plasma membrane G protein-coupled receptor that is expressed in the parathyroid hormone-producing chief cells of the parathyroid gland and the cells lining the kidney tubule. By virtue of its ability to sense small changes in circulating calcium concentration and to couple this information to intracellular signaling pathways that modify PTH secretion or renal cation handling, CASR plays an essential role in maintaining mineral ion homeostasis (Hendy et al., 2000).
www.casrdb.mcgill.ca
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CellBank: Human Cell Repository
The present database describes holdings of skin fibroblast cultures with well documented provenance. Information is based on the depositors' data, requiring effort on the part of the depositor to provide this information. Our working philosophy is simple: the information recorded here is what investigators would wish to have when selecting cells for withdrawal for a research project in their own laboratory. All lines are reviewed by the curator and managers.
www.cellbank.mcgill.ca
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CYSdb: Cystinuria Locus Specific Database
Cystinuria is characterized by the inadequate reabsorption of cystine during the filtering process in the kidneys, thus resulting in an excessive concentration of this amino acid. Cystine will precipitate out of the urine, if the urine is neutral or acidic, and form crystals or stones in the kidneys, ureters, or bladder.
www.cysdb.mcgill.ca
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HEXA, HEXB and GM2A Gene Loci Databases
This site is dedicated to serving HEXA, HEXB and GM2A data to the Internet community in its most up-to-date form. We are constantly updating and tuning this site (a process far from over), so the exact information that you need may not be here in the form that you would prefer.
www.hexdb.mcgill.ca
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PAHdb: Phenylalanine Hydroxylase Locus Specific Database
PAHdb is an online relational locus-specific database for mutations in the human phenylalanine hydroxylase gene (symbol PAH) and the associated phenotypes at the levels of protein, metabolites and organism. When combined with information about associations of mutations with populations, haplotypes and other features, PAHdb operates as a knowledge base. PAHdb is disease-oriented for hyperphenylalaninemia (HPA) (see OMIM 261600) due to primary deficiency of PAH enzyme function (EC 1.14.16.1). PAHdb and its numerous modules are, in practice, maintained by a team of curators who follow guidelines for nomenclature and for content, design and deployment. PAHdb accepts and validates direct online submissions of mutation and auxiliary information.
www.pahdb.mcgill.ca
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PHEXdb: X-linked hypophosphatemia Database
Welcome to the PHEXdb mutation Search Engine Site! This site is dedicated to the distribution of information about nucleotide variation found in the PHEX gene, the majority of which are found in patients with X-linked hypophosphatemia.
www.phexdb.mcgill.ca
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SYNE1-Related Autosomal Recessive Cerebellar Ataxia
SYNE1-related autosomal recessive cerebellar ataxia (also known as autosomal recessive cerebellar ataxia type 1, or ARCA1) is characterized by onset of cerebellar ataxia and/or dysarthria at a mean age of 31 years (range 17-46 years). Over time, all affected individuals develop significant dysarthria and ataxia. Other associated features can include dysmetria, brisk lower-extremity tendon reflexes, and minor abnormalities in ocular saccades and pursuit. Disease progression is slow, resulting in moderate disability. Life expectancy appears to be normal. ARCA1 has not been observed outside of Quebec, Canada.
www.medgen.mcgill.ca/syne1
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SACSIN-Related Autosomal Recessive Cerebellar Ataxia
ARSACS (SACSIN) Autosomal recessive spastic ataxia of Charlevoix-Saguenay, more commonly known as ARSACS, is a condition affecting muscle movement. People with ARSACS typically have abnormal tensing of the muscles (spasticity), difficulty coordinating movements (ataxia), muscle wasting (amyotrophy), involuntary eye movements (nystagmus), and speech difficulties (dysarthria). Other problems may include deformities of the fingers and feet, reduced sensation and weakness in the arms and legs (peripheral neuropathy), yellow streaks of fatty tissue in the light-sensitive tissue at the back of the eye (hypermyelination of the retina), and less commonly, leaks in one of the valves that control blood flow through the heart (mitral valve prolapse). An unsteady gait is the first symptom of ARSACS. It usually appears between the age of 12 months and 18 months, as toddlers are learning to walk. The signs and symptoms worsen over the years, with increased spasticity and ataxia of the arms and legs. In some cases spasticity disappears, but this apparent improvement is thought to be due to degeneration of nerves in the arms and legs. Most affected individuals require a wheelchair by the time they are in their thirties or forties.
www.medgen.mcgill.ca/SACSIN
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The Waystation: The Centre for the Submission, Reviews and Publication of Genome Variations
The WayStation project’s goal is to facilitate sharing of human genetic variation information. To this end it provides a consistent central resource to receive gene mutations and their resulting phenotypes, review them, and transmit them freely to the appropriate public databases. The review process ensures that the variations are as stated and are in the correct format for integration into the human genome assembly and central databases such as dbSNP and OMIM. It draws upon a panel of editors who are expert in specific genes.
www.centralmutations.org
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dbPEX: dbPEX, PEX Gene Database
Mission : By cataloging gene variation in peroxisome assembly diseases, we hope to accelerate the analysis of these variations and understand their role in health and disease.
www.dbpex.org
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| What's New? |
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dbPEX gene database
Posted on 2009-05-28 15:27:48
Mission:
By cataloging gene variation in peroxisome assembly diseases, we hope to accelerate the analysis of these variations and understand their role in health and disease.
Disclaimer:
dbPEX is not intended for clinical usage, including the diagnosis, genetic counseling or treatment of a health problem or disease. Nor does dbPEX provide medical advice and urges users to consult with qualified professionals for diagnosis, genetic counseling or treatment of health problems or disease, or for answers to personal questions.
Steven Steinberg
Baltimore, USA
Kennedy Krieger Institute
Neurogenetics
Room 500H 707 N Broadway
Nancy Braverman
Montreal, Canada
McGill University-Montreal Children's Hospital
Human Genetics
4060 Ste Catherine West Suite 406.2
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SACSIN Database
Posted on 2008-12-17 15:32:34
ARSACS (SACSIN) Autosomal recessive spastic ataxia of Charlevoix-Saguenay, more commonly known as ARSACS, is a condition affecting muscle movement.
Authors:
Isabelle Thiffault, Msc
Jean-Pierre Bouchard, MD
Jean Mathieu, MD
Bernard Brais, MD, PhD
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ISO Certification
Posted on 2007-09-13 14:23:58
ISO People will come visit the Laboratory next week for certification.
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PAH Advance Search
Posted on 2007-08-08 16:26:31
New Improved PAHdb Advance Search
You can now used the new advance search engine for the PAHdb Database at the following link.
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ALL Laptops MUST be CLEANED - Make an Appointment
Posted on 2007-07-09 10:26:08
REMINDER: ALL Laptops MUST be CLEANED - Make an Appointment
Published 2007-07-06
From: Information Services To: MUHC
ALL Laptops MUST be CLEANED
To have your laptop cleaned, please call 78214 to make
an appointment.
Laptop cleanup centres are now open between 08:00 and 16:00 at the following locations:
RVH: A0.15
MGH: T6.206
MCH: A4.22
2155 Guy St: 10th floor, conference room
Please note: The centres will be open July 9, 10, and 11 in the same locations during the same business hours.
For more information, or if you have comments or questions, please use contact information below or click on the email address in red to launch Lotus Notes and send your message:
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Dept: Information Services
Tel:
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