A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy
…, LH Eunson, A Spauschus, R De Silva, J Tolmie… - Brain, 1999 - academic.oup.com
Abstract Episodic ataxia type 1 (EA1) is a rare autosomal dominant disorder characterized
by brief episodes of ataxia associated with continuous interattack myokymia. Point mutations …
by brief episodes of ataxia associated with continuous interattack myokymia. Point mutations …
Investigation of global developmental delay
L McDonald, A Rennie, J Tolmie, P Galloway… - Archives of Disease in …, 2006 - adc.bmj.com
The investigation of global developmental delay in preschool children varies between
centres and between paediatricians. 1 Following a literature search and review of the …
centres and between paediatricians. 1 Following a literature search and review of the …
Spectrum of mutations in the renin–angiotensin system genes in autosomal recessive renal tubular dysgenesis
…, A Alfares, N Braverman, L Krogh, J Tolmie… - Human …, 2012 - Wiley Online Library
Autosomal recessive renal tubular dysgenesis (RTD) is a severe disorder of renal tubular
development characterized by early onset and persistent fetal anuria leading to …
development characterized by early onset and persistent fetal anuria leading to …
[HTML][HTML] Recurrent rearrangements of chromosome 1q21. 1 and variable pediatric phenotypes
HC Mefford, AJ Sharp, C Baker, A Itsara… - … England Journal of …, 2008 - Mass Medical Soc
Background Duplications and deletions in the human genome can cause disease or
predispose persons to disease. Advances in technologies to detect these changes allow for …
predispose persons to disease. Advances in technologies to detect these changes allow for …
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection
YJ Crow, A Leitch, BE Hayward, A Garner, R Parmar… - Nature …, 2006 - nature.com
Aicardi-Goutières syndrome (AGS) is an autosomal recessive neurological disorder, the
clinical and immunological features of which parallel those of congenital viral infection. Here …
clinical and immunological features of which parallel those of congenital viral infection. Here …
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
PS Tarpey, R Smith, E Pleasance, A Whibley… - Nature …, 2009 - nature.com
Large-scale systematic resequencing has been proposed as the key future strategy for the
discovery of rare, disease-causing sequence variants across the spectrum of human …
discovery of rare, disease-causing sequence variants across the spectrum of human …
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B
…, K Méhes, R Nash, N Robin, N Shannon, J Tolmie… - Nature …, 2004 - nature.com
Mosaic variegated aneuploidy is a rare recessive condition characterized by growth
retardation, microcephaly, childhood cancer and constitutional mosaicism for chromosomal …
retardation, microcephaly, childhood cancer and constitutional mosaicism for chromosomal …
PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome
DJ Marsh, JB Kum, KL Lunetta… - Human molecular …, 1999 - academic.oup.com
Germline mutations in the tumour suppressor gene PTEN have been implicated in two
hamartoma syndromes that exhibit some clinical overlap, Cowden syndrome (CS) and …
hamartoma syndromes that exhibit some clinical overlap, Cowden syndrome (CS) and …
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
GI Rice, Y del Toro Duany, EM Jenkinson, GMA Forte… - Nature …, 2014 - nature.com
The type I interferon system is integral to human antiviral immunity. However, inappropriate
stimulation or defective negative regulation of this system can lead to inflammatory disease …
stimulation or defective negative regulation of this system can lead to inflammatory disease …
[PDF][PDF] Clinical and molecular phenotype of Aicardi-Goutieres syndrome
G Rice, T Patrick, R Parmar, CF Taylor, A Aeby… - The American Journal of …, 2007 - cell.com
Aicardi-Goutières syndrome (AGS) is a genetic encephalopathy whose clinical features
mimic those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with …
mimic those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with …