K D MacDermot - Concepedia

Author

K D MacDermot

Also Known As

K D MacDermot, K MacDermot, K Macdermot, K. D. MacDermot, K. D. Macdermot, K. MACDERMOT, K. MacDermot, K.D macDermot, K.D. MACDERMOT, K.D. MacDermot

Publications

2.9K

Citations

H-Index

Concepts

All Affiliations

The Royal Free Hospital University College London Northwick Park Hospital Université Paris Cité Addenbrooke's Hospital

About

K D MacDermot is an author at The Royal Free Hospital specializing in medicine, pathology, and dermatology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	15	15	1.1K
2	Public Health	2	2	111
3	Nursing	1	1	15
4	Social Sciences	1	1	66
5	Anatomy	1	1	26

K D MacDermot

Publications

Citations

H-Index

Page 1

	Year	Citations
Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males K D MacDermot Journal of Medical Genetics	2001	678
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2 Robin Walters, Sébastien Jacquemont, Armand Valsesia, Nature ObesityMetabolic SyndromeChildhood ObesityDevelopmental BiologyMetabolic Disorder	2010	554
The reliability of immunohistochemistry as a prescreening method for the diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC) – Results of an international collaborative study Wolfram Müller, Lawrence J. Burgart, Ruth Krause‐Paulus, Familial Cancer	2001	106
Natural history of Fabry disease in affected males and obligate carrier females K D MacDermot, Alexander J. Holmes, Alec Miners Journal of Inherited Metabolic Disease BiologyFabry DiseaseMendelian DisorderGeneticsAffected Males	2001	99
Investigation of three patients with the ?ring syndrome?, including familial transmission of ring 5, and estimation of reproductive risks K D MacDermot, Elspeth M. Jack, Alexander Cooke, Human Genetics InfertilityMendelian DisorderFertilityFemale InfertilityGenetic Disorder	1990	96
Modification of the blood-brain barrier: increased concentration and fate of enzymes entering the brain. J. A. Barranger, Wendy R. Fredericks, Peter G. Pentchev, Proceedings of the National Academy of Sciences Brain DevelopmentLipid PeroxidationExperimental PharmacologyRedox BiologySocial Sciences	1979	66
Periventricular Heterotopia in Common Microdeletion Syndromes Margriet van Kogelenberg, Sondhya Ghedia, George McGillivray, Molecular Syndromology	2010	64
Molecular screening of <i>ADAMTSL2</i> gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia Slimane Allali, Carine Le Goff, I. Pressac-Diebold, Journal of Medical Genetics	2011	56
Punctate palmoplantar keratoderma and malignancy in a four-generation family. Howard P. Stevens, David P. Kelsell, Irene M. Leigh, PubMed Unaffected IndividualsMedicineSurgical PathologyHistopathologyPunctate Palmoplantar Keratoderma	1996	44
Gene localisation of X-linked hypohidrotic ectodermal dysplasia (C-S-T syndrome) K D MacDermot, R M Winter, S Malcolm Human Genetics Mendelian DisorderGenetic DisorderGeneticsHistopathologyPathology	1986	34

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