A5078483286- Sexual Differentiation and Disorders
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Genomic variations and chromosomal abnormalities
- BRCA gene mutations in cancer
- Hormonal and reproductive studies
- Genomics and Rare Diseases
- Urological Disorders and Treatments
- Neuroblastoma Research and Treatments
- Congenital heart defects research
- Connective tissue disorders research
- Genetics and Neurodevelopmental Disorders
- Cancer-related gene regulation
- Cell Adhesion Molecules Research
- Renal and related cancers
- Tuberous Sclerosis Complex Research
- Cancer-related Molecular Pathways
- Ethics and Legal Issues in Pediatric Healthcare
- Hate Speech and Cyberbullying Detection
- Ocular Disorders and Treatments
- Virology and Viral Diseases
- Congenital Ear and Nasal Anomalies
- Hormonal Regulation and Hypertension
- Cancer, Hypoxia, and Metabolism
- Phosphodiesterase function and regulation
- Diabetes Treatment and Management
Queen Elizabeth University Hospital
2016-2024
University of Glasgow
2013-2023
NHS Greater Glasgow and Clyde
2020-2021
Education Scotland
2021
University of Dundee
2021
John Wiley & Sons (United States)
2020
Wellcome Sanger Institute
2016
Southern General Hospital
2015
Stobhill Hospital
2002-2013
Heinrich Heine University Düsseldorf
2011
Duplications and deletions in the human genome can cause disease or predispose persons to disease. Advances technologies detect these changes allow for routine identification of submicroscopic imbalances large numbers patients.
Type 2 collagen disorders encompass a diverse group of skeletal dysplasias that are commonly associated with orthopedic, ocular, and hearing problems. However, the frequency many clinical features has never been determined. We retrospectively investigated clinical, radiological, genotypic data in 93 patients molecularly confirmed SEDC or related disorder. The majority (80/93) had short stature, radiological (n = 64), others having SEMD 5), Kniest dysplasia 7), spondyloperipheral 2),...
<h3>Background:</h3> The cerebro-oculo-facio-skeletal syndrome (COFS syndrome) is an autosomal recessive disorder which was initially described in a specific aboriginal population from Manitoba. In recent years, COFS has been linked this original to defective DNA repair pathway and homozygous mutation the major gene underlying Cockayne (<i>CSB</i>). However, most reports of suspected outside have not confirmed at molecular level, leading considerable heterogeneity within confusing overlaps...
Most classical aniridia is caused by PAX6 haploinsufficiency. missense variants can be hypomorphic or mimic We hypothesized that also cause previously undescribed disease altering the affinity and/or specificity of genomic interactions. screened in 372 individuals with bilateral microphthalmia, anophthalmia, coloboma (MAC) from Medical Research Council Human Genetics Unit eye malformation cohort (HGUeye) and reviewed data Deciphering Developmental Disorders study. performed cluster analysis...
Pheochromocytoma/paraganglioma occurs almost exclusively after paternal transmission of succinate dehydrogenase D (SDHD) mutations. This parent-of-origin effect has not been fully explained but is accompanied by obligate loss the maternal copy chromosome 11. Loss wild-type SDHD and an additional imprinted gene (hypothesized to be H19) appears necessary for tumor formation. Two previous reports suggested formation mutation, histological molecular characterization was unavailable. We report...
Auriculocondylar syndrome (ACS) is a rare craniofacial disorder consisting of micrognathia, mandibular condyle hypoplasia and specific malformation the ear at junction between lobe helix. Missense heterozygous mutations in phospholipase C, β 4 (PLCB4) guanine nucleotide binding protein (G protein), α inhibiting activity polypeptide 3 (GNAI3) genes have recently been identified ACS patients by exome sequencing. These are predicted to function within G protein-coupled endothelin receptor...
Abstract: Disorders of sex development (DSD) are a group rare conditions that usually present with atypical genitalia in the newborn period or as delayed puberty an adolescent. Although concern about external may exist one 300 infants, discrete genetic underlie DSD generally rarely identified. It is likely this diagnostic gap exists for number reasons and these include inadequate knowledge pathogenesis underlying mechanisms lead to DSD, variation assessment in-depth phenotyping conditions,...
What is the likelihood of identifying genetic or endocrine abnormalities in a group boys with 46, XY who present to specialist clinic suspected disorder sex development (DSD)? An abnormality gonadal axis may be quarter cases and copy number variants (CNVs) single gene about half cases. Evaluation DSD requires combination tests but prevalence these sufficiently large presenting one multidisciplinary service unclear. This study was retrospective review investigations performed on 122 boys. All...
The recent use of social media by protesters in Iran, Egypt, Yemen and elsewhere has focused new attention on this communications medium. Government agencies businesses, as well, are using to push information their stakeholders. Those who the front lines revolution, however, realise that is most effective when communication two-way. Unlike other media, allows sharing. This, turn, provides emergency managers with situational-awareness resources trying mitigate an incident. As Federal...
Over a 7 year period, 551 patients were investigated for the presence of chromosome 22q11 deletion by fluorescence in situ hybridisation. Analysis presenting features 67 individuals with this permitted us to devise guidelines facilitate early diagnosis.
Abstract From data collected via a large international collaborative study, we have constructed growth chart for patients with molecularly confirmed congenital spondylo‐epiphyseal dysplasia (SEDC) and other COL2A1 related dysplasias. The is based on longitudinal height measurements of 79 glycine substitutions in the triple‐helical domain COL2A1. In addition, 27 molecular defects, such as arginine to cysteine substitutions, splice mutations, mutations C‐terminal propeptide been plotted chart....
Abstract Skeletal dysplasias induced by mutations in the collagen 2 gene (the so‐called “type collagenopathies”) form a wide spectrum severity and are distinguished subtle clinical radiographic differential signs. The unifying features predominant involvement of vertebral bodies epiphyses long bones (“spondylo‐epiphyseal” pattern). A mild degree metaphyseal dysplasia can be seen Strudwick variant spondyloepimetaphyseal is generally or absent other forms. We report here on four individuals...
Journal Article Preliminary evidence for involvement of the tumour suppressor gene CHD5 in a family with cutaneous melanoma Get access J. Lang, Lang Medical Genetics, Duncan Guthrie Institute, University Glasgow, Yorkhill Hospitals, U.K. Julie Lang. E‐mail: J.Lang@clinmed.gla.ac.uk Search other works by this author on: Oxford Academic Google Scholar E.S. Tobias, Tobias R. MacKie Department Public Health and Policy, Glasgow University, British Dermatology, Volume 164, Issue 5, 1 May 2011,...
We analyzed the insulin receptor gene in four patients with leprechaunism and one type A resistance. detected novel previously reported mutations. The mutants were expressed Chinese hamster ovary cells to evaluate consequences for function. resistance patient from Morocco was homozygous Arg252His mutation, similar a described Japan. Ser323Leu identified form two Rabson-Mendenhall syndrome. Phenotypic expression of this mutation is variable. compound heterozygous Arg1092Trp nonsense codon...
Venous thromboembolic events (VTE), including deep venous thrombosis and pulmonary embolism, are common in older age. It has been suggested that statins might reduce the risk of VTE however positive results from studies middle aged subjects may not be generalisable to elderly people. We aimed determine effect pravastatin on incident people; we also studied impact clinical plasma variables.This study was an analysis using data Prospective Study Pravastatin Elderly at Risk (PROSPER), a...
Abstract NHS genetics centres in Scotland sought to investigate the Genomics England 100,000 Genomes Project diagnostic utility evaluate genome sequencing for rare, inherited conditions. Four regional services recruited 999 individuals from 394 families 200 rare phenotype categories, with negative historic genetic testing. Genome was performed at Edinburgh Genomics, and sequence data were transferred variant calling, gene-based filtering prioritisation. laboratories interpretation,...