Affiliation: Manchester Royal Infirmary
- Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 casesB Kerr
Regional Genetic Service, Central Manchester University Hospital NHS Trust, Manchester, UK
J Med Genet 43:401-5. 2006..Individuals with CS have an increased risk of malignancy, suggested to be about 17%. Recently, mutations in the HRAS gene on chromosome 11p13.3 have been found to cause CS...
- The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disordersBronwyn Kerr
Regional Genetic Service and Medical Genetics Research Group, Central Manchester and Manchester Children s Hospitals University NHS Trust, Manchester, UK
Am J Med Genet A 146:1218-20. 2008
- Cardiomyopathy with renal anomalies in two siblings: a new recessive syndrome?Kathryn M Leask
Academic Unit of Medical Genetics and Regional Genetic Service, St Mary s Hospital, Pendlebury, Manchester, UK
Clin Dysmorphol 16:51-3. 2007..One of them also had dysgenesis of the corpus callosum. They were born to nonconsanguineous, phenotypically normal parents. This association appears to be a new entity and may suggest a new autosomal or X-linked recessive syndrome...
- Severe constipation in a patient with Myhre syndrome: a case reportJohn K Bassett
aFaculty of Health and Medicine, Lancaster University, Lancaster bManchester Centre for Genomic Medicine, University of Manchester, St Mary s Hospital, Manchester, UK
Clin Dysmorphol 25:54-7. 2016..Here, we report on the case of a 7-year-old girl showing symptoms of Myhre syndrome and with a known SMAD4 mutation presenting with the novel symptom of severe constipation...
- Further delineation of the KAT6B molecular and phenotypic spectrumTamsin Gannon
Manchester Centre for Genomic Medicine, University of Manchester, St Mary s Hospital, Manchester Academic Health Science Centre, Manchester, UK
Eur J Hum Genet 23:1165-70. 2015..We report the findings in a previously unreported patient with a deletion of the KAT6B gene to further delineate the haploinsufficiency phenotype. The molecular mechanisms giving rise to the SBBS and GPS phenotypes are discussed. ..
- Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesisSiddharth Banka
Faculty of Medical and Human Sciences, Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester Academic Health Science Centre MAHSC, Manchester, UK Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, UK
Ann Rheum Dis 74:1249-56. 2015..Scleroderma-like skin thickening can be seen in some individuals with LP. We undertook a study to characterise the phenotype of LP and identify its genetic basis...
- How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrumSiddharth Banka
Department of Genetic Medicine, St Mary s Hospital, Manchester Academic Health Sciences Centre MAHSC, University of Manchester, Manchester, UK
Eur J Hum Genet 20:381-8. 2012..Moreover, phenotypic variability of KS suggests that MLL2 testing should be considered even in atypical patients...
- Diagnosing fetal alcohol syndrome: new insights from newer genetic technologiesSofia Douzgou
Clinical Fellow in Clinical Genetics, Central Manchester University Hospitals Foundation Trust, Manchester Academic Health Sciences Centre, Genetic Medicine, St Mary s Hospital, Oxford Rd, Manchester, UK
Arch Dis Child 97:812-7. 2012..We studied the outcome of genetic assessment of 80 children referred to a regional genetics centre between 2004 and 2010 to identify the value of the genetic assessment in cases of suspected FASD...
- Four limb syndactyly, constriction rings and skin tags; amniotic bands or disorganization-like syndromeMary O'Driscoll
Medical Genetics Research Group and Regional Genetics Service, St Mary s Hospital, Manchester, UK
Clin Dysmorphol 17:255-8. 2008..Mutations in the human homologue of the mouse gene disorganization gene may also be the mechanism for the combination of constriction/duplication abnormalities with distant skin tags seen in this patient...
- Further delineation of the phenotype associated with heterozygous mutations in ZFHX1BMeredith Wilson
Department of Clinical Genetics, The Children s Hospital at Westmead, Sydney, Australia
Am J Med Genet A 119:257-65. 2003....
- The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian typeGen Nishimura
J Med Genet 44:e73. 2007..Our experience expands the phenotypic spectrum of SBDS mutations, which, at its severest end, results in severe neonatal SMD...
- Molecular study of 33 families with Fraser syndrome new data and mutation reviewM M van Haelst
Molecular Medicine Unit, Institute of Child Health, London, United Kingdom
Am J Med Genet A 146:2252-7. 2008..Mutations were identified in only 43% of the cases suggesting that other genes syntenic to murine genes causing blebbing may be responsible for FS as well...
- Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007Katherine A Rauen
Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, California, USA
Am J Med Genet A 146:1205-17. 2008
- No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndromeBenjamin Abo-Dalo
Institute of Human Genetics, University Medical Center Hamburg Eppendorf, Hamburg, Germany
Clin Dysmorphol 17:181-5. 2008
- Distal phalangeal creases: More evidence of this feature in disorders of the Ras signaling pathwayJudith Allanson
Eur J Med Genet 50:482-3. 2007
- Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitusF Lucy Raymond
Cambridge Institute of Medical Research, University of Cambridge, Cambridge, CB2 2XY, UK
Am J Hum Genet 80:982-7. 2007..Furthermore, now that the first palmitoyltransferase that causes mental retardation has been identified, defects in other palmitoylation transferases become good candidates for causing other mental retardation syndromes...
- Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremorPatrick S Tarpey
Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK
Am J Hum Genet 80:345-52. 2007..The relatively high frequency of CUL4B mutations in this series indicates that it is one of the most commonly mutated genes underlying XLMR and suggests that its introduction into clinical diagnostics should be a high priority...
- Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix proteinLesley McGregor
Molecular Medicine, Institute of Child Health, London WC1N 1EH, UK
Nat Genet 34:203-8. 2003..Thus, the bl mouse is a model for Fraser syndrome in humans, a disorder caused by disrupted epithelial integrity in utero...
- Syndromic form of X-linked mental retardation with marked hypotonia in early life, severe mental handicap, and difficult adult behavior maps to Xp22Gillian Turner
Hunter Genetics, University of Newcastle, PO Box 84, Waratah, New South Wales 2298, Australia
Am J Med Genet A 117:245-50. 2003..Mutations in the GRPR gene and M6b genes were excluded by sequence analysis. Nearby genes in which mutations are known to be associated with mental retardation (RPS6KA3, STK9, and VCXA, B and C), were excluded by position...
- Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardationAndrew M Fisher
Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, SP2 8BJ, UK
Hum Genet 111:290-6. 2002..5 years and Patient 2 showed breast development in infancy. Both patients shared some dysmorphological features, namely short palpebral fissures, a prominent nasal tip, a short philtrum and 5th finger clinodactyly...
- Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and colobomaRobyn V Jamieson
University Department of Medical Genetics and Regional Genetic Service, St Mary s Hospital, Manchester, M13 0JH, UK
Hum Mol Genet 11:33-42. 2002..The 16q23.2 breakpoint transects the common fragile site, FRA16D, providing a molecular demonstration of a germline break in a common fragile site...