Series 01 January 2016

Practical Genetics Series

The Practical Genetics series delivers a one–stop–shop information resource for genetics clinicians. Read the following papers in the series FREE online to find out more.

Content

Practical genetics series introduction: Information overload, a double-edged sword
- Philip L Beales
Editorial25 Jul 2006 European Journal of Human Genetics
MSX1 mutations and associated disease phenotypes: genotype-phenotype relations
- Jia Liang
- Johannes Von den Hoff
- Carine E L Carels
Practical Genetics6 Jul 2016 European Journal of Human Genetics
Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND)
- Sureni V Mullegama
- Sarah H Elsea
Practical Genetics25 May 2016 European Journal of Human Genetics
Inherited ichthyoses/generalized Mendelian disorders of cornification
- Matthias Schmuth
- Verena Martinz
- Robert Gruber
Practical Genetics27 Jun 2012 European Journal of Human Genetics
Bardet–Biedl syndrome
- Elizabeth Forsythe
- Philip L Beales
Practical Genetics20 Jun 2012 European Journal of Human Genetics
Aniridia
- Melanie Hingorani
- Isabel Hanson
- Veronica van Heyningen
Practical Genetics13 Jun 2012 European Journal of Human Genetics
Alagille syndrome: pathogenesis, diagnosis and management
- Peter D Turnpenny
- Sian Ellard
Practical Genetics21 Sep 2011 European Journal of Human Genetics
Coffin–Lowry syndrome
- Patricia Marques Pereira
- Anne Schneider
- André Hanauer
Practical Genetics4 Nov 2009 European Journal of Human Genetics
Menkes disease
- Zeynep Tümer
- Lisbeth B Møller
Practical Genetics4 Nov 2009 European Journal of Human Genetics
Septo-optic dysplasia
- Emma A Webb
- Mehul T Dattani
Practical Genetics22 Jul 2009 European Journal of Human Genetics
Triple X syndrome: a review of the literature
- Maarten Otter
- Constance TRM Schrander-Stumpel
- Leopold MG Curfs
Practical Genetics1 Jul 2009 European Journal of Human Genetics
Caveolinopathies: from the biology of caveolin-3 to human diseases
- Elisabetta Gazzerro
- Federica Sotgia
- Carlo Minetti
Practical Genetics8 Jul 2009 European Journal of Human Genetics
Beckwith–Wiedemann syndrome
- Rosanna Weksberg
- Cheryl Shuman
- J Bruce Beckwith
Practical Genetics24 Jun 2009 European Journal of Human Genetics
Axenfeld–Rieger syndrome and spectrum of PITX2 and FOXC1 mutations
- Zeynep Tümer
- Daniella Bach-Holm
Practical Genetics10 Jun 2009 European Journal of Human Genetics
Angelman syndrome (AS, MIM 105830)
- Griet Van Buggenhout
- Jean-Pierre Fryns
Practical Genetics20 May 2009 European Journal of Human Genetics
Autosomal recessive cutis laxa syndrome revisited
- Éva Morava
- Maïlys Guillard
- Ron A Wevers
Practical Genetics29 Apr 2009 European Journal of Human Genetics
Hereditary haemorrhagic telangiectasia: a clinical and scientific review
- Fatima S Govani
- Claire L Shovlin
Practical Genetics1 Apr 2009 European Journal of Human Genetics
Charcot–Marie–Tooth disease
- Kinga Szigeti
- James R Lupski
Practical Genetics11 Mar 2009 European Journal of Human Genetics
Nephronophthisis
- Roslyn J Simms
- Lorraine Eley
- John A Sayer
Practical Genetics10 Dec 2008 European Journal of Human Genetics
Treacher Collins syndrome: etiology, pathogenesis and prevention
- Paul A Trainor
- Jill Dixon
- Michael J Dixon
Practical Genetics24 Dec 2008 European Journal of Human Genetics
Kallmann syndrome
- Catherine Dodé
- Jean-Pierre Hardelin
Practical Genetics5 Nov 2008 European Journal of Human Genetics
Prader–Willi syndrome
- Suzanne B Cassidy
- Daniel J Driscoll
Practical Genetics10 Sep 2008 European Journal of Human Genetics
PTEN hamartoma tumor syndromes
- Gideon M Blumenthal
- Phillip A Dennis
Practical Genetics10 Sep 2008 European Journal of Human Genetics
Fragile X syndrome
- Kathryn B Garber
- Jeannie Visootsak
- Stephen T Warren
Practical Genetics9 Apr 2008 European Journal of Human Genetics
Smith–Lemli–Opitz syndrome: pathogenesis, diagnosis and management
- Forbes D Porter
Practical Genetics20 Feb 2008 European Journal of Human Genetics
Smith–Magenis syndrome
- Sarah H Elsea
- Santhosh Girirajan
Practical Genetics30 Jan 2008 European Journal of Human Genetics
Alström Syndrome
- Jan D Marshall
- Sebastian Beck
- Jürgen K Naggert
Practical Genetics17 Oct 2007 European Journal of Human Genetics
Marfan syndrome: clinical diagnosis and management
- John C S Dean
Practical Genetics9 May 2007 European Journal of Human Genetics
Joubert syndrome (and related disorders) (OMIM 213300)
- Melissa A Parisi
- Dan Doherty
- Ian A Glass
Practical Genetics21 Mar 2007 European Journal of Human Genetics
CHARGE syndrome: an update
- Damien Sanlaville
- Alain Verloes
Practical Genetics14 Feb 2007 European Journal of Human Genetics
Sotos syndrome
- Katrina Tatton-Brown
- Nazneen Rahman
Practical Genetics13 Sep 2006 European Journal of Human Genetics
Neurofibromatosis 1
- Rosalie E Ferner
Practical Genetics6 Sep 2006 European Journal of Human Genetics
Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome
- Stephen P Robertson
Practical Genetics23 Aug 2006 European Journal of Human Genetics
The Börjeson–Forssman–Lehman syndrome (BFLS, MIM #301900)
- Jozef Gécz
- Gillian Turner
- Michael Partington
Practical Genetics16 Aug 2006 European Journal of Human Genetics
The challenges of Proteus syndrome: diagnosis and management
- Leslie Biesecker
Practical Genetics2 Aug 2006 European Journal of Human Genetics
Tuberous sclerosis
- John R W Yates
Practical Genetics26 Jul 2006 European Journal of Human Genetics
Rubinstein–Taybi syndrome
- Raoul C M Hennekam
Practical Genetics26 Jul 2006 European Journal of Human Genetics
Rett syndrome: new clinical and molecular insights
- Sarah L Williamson
- John Christodoulou
Practical Genetics25 Jul 2006 European Journal of Human Genetics
Emery-Dreifuss muscular dystrophy
- Anne Helbling-Leclerc
- Gisèle Bonne
- Ketty Schwartz
Practical Genetics25 Apr 2002 European Journal of Human Genetics
Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for α2 chain of laminin)
- Valérie Allamand
- Pascale Guicheney
Practical Genetics5 Apr 2002 European Journal of Human Genetics
X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90^rsk2, RSK2, ISPK, MAPKAP1)
- Sylvie Jacquot
- Maria Zeniou
- André Hanauer
Practical Genetics28 Feb 2002 European Journal of Human Genetics

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