iHOP – A gene network for navigating the literature

Posted by & filed under Part 02: PERSPECTIVES, Websites.

Nat Genet. 2004 Jul;36(7):664.
A gene network for navigating the literature.
Hoffmann R, Valencia A.

 

This new portal is exponentially popular. According to the developpers, “By using genes and proteins as hyperlinks between sentences and abstracts, the information in PubMed can be converted into one navigable resource, bringing all advantages of the internet to scientific literature research. “.

Find out more at http://www.ihop-net.org/UniPub/iHOP/

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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

Historical perspectives in genetics

Posted by & filed under Books, Historical perspectives, Part 02: PERSPECTIVES, Part 03: GENERAL THEMES, Websites.

For interesting perspectives on the history of genetics, please refer to these websites, books and papers:

Electronic Scholarly Publishing, started by Robert J Robbins.

Nature Reviews in Genetics series on Historical Profiles and the History of genetic diseases.

Landmarks in Medical Genetics
Classic Papers with Commentaries
Edited by Peter S. Harper
ISBN 13: 9780195159301
ISBN 10: 0195159306
336 pages, 2004 

 

The Journal of the History of Medicine and Allied Ressources 

 

OMMBID Chapter 3 : The Inborn Error and Biochemical Individuality
Authors: Barton Childs, David Valle, Gerardo Jimenez-Sanchez

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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

Urinary screening for Fabry disease

Posted by & filed under Newborn screening, Part 06: DIAGNOSTIC APPROACHES, Part 16: LYSOSOMAL DISORDERS.

Screening for Fabry disease on urine collected by filter paper might eventually become a reality with the method referred to in this short report:

Development of a filter paper method potentially applicable to mass and high-risk urinary screenings for Fabry disease

C. Auray-Blais, D. Cyr, K. Mills, R. Giguère and R. Drouin

J Inherit Metab Dis, January 2007

 

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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

 

 

Book: Inborn Metabolic Diseases

Posted by & filed under Books, Part 06: DIAGNOSTIC APPROACHES.

The newest edition of one of the most clinically useful books in the field:

Inborn Metabolic Diseases
Diagnosis and Treatment

4th, rev. ed., 2006, XXII, 561 p., 65 illus., Hardcover
ISBN-10: 3-540-28783-3
ISBN-13: 978-3-540-28783-4

On a related topic, see chapter 66 of OMMBID:

Clinical Phenotypes: Diagnosis/Algorithms
Authors: Jean-Marie Saudubray, Christiane Charpentier

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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

 

Drugs for rare conditions

Posted by & filed under Part 02: PERSPECTIVES, Part 03: GENERAL THEMES, Websites.

J Intern Med. 2006 Jul;260(1):1-10.

A journey of hope: lessons learned from studies on rare diseases and orphan
drugs.

Wastfelt M, Fadeel B, Henter JI.

 

This article gives interesting insights on the development of orphan drugs for rare disorders. It also contains a list of great websites.

 

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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

Metabolic autopsy

Posted by & filed under Part 06: DIAGNOSTIC APPROACHES, Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION.

J Pediatr. 2006 Jun;148(6):779-83.

The value of the metabolic autopsy in the pediatric hospital setting.

Ernst LM, Sondheimer N, Deardorff MA, Bennett MJ, Pawel BR.
 

 

In this review of 23 cases performed at the Children’s Hospital of Philadelphia, a metabolic autopsy permitted the identification of an undiagnosed metabolic disease in 18% of the cases.

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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

Science blogs and related websites

Posted by & filed under Websites.

Scientific american

This week in science

Science roll, a journey in genetics and medicine

On genetics

Ouroboros, research in the biology of aging

Fierce bio researcher

Evolution research

North Carolina Science Blogging Conference

News science digest

Science blogs

Rosie Redfield Research

Biohackery

Stem cell research blog

Science sampler

Science and reason

Bio::blogs and the conference edition

Omics! Omics! (nice title)

Biosingularity

Interesting science

Frontiers of Human Function

Xcovery blog – kinase industry knowledge collected and sometimes analyzed

Evolgen

http://www.sciencebase.com/

Have fun browsing!

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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator