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P. Rutland · SciRah

Researcher profile · Semantic Scholar

P. Rutland

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P. Rutland — researcher profile on SciRah

h-index: 25
Works: 50
Citations: 4,610

Most-cited papers

Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome
A. Wilkie, S. Slaney, M. Oldridge, M. Poole +9 more
1995Nature Genetics932 citations
Semantic Scholar
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome
W. Reardon, R. Winter, P. Rutland, L. Pulleyn +2 more
1994Nature Genetics745 citations
Semantic Scholar
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
M. Muenke, U. Schell, A. Hehr, Nathaniel H. Robin +7 more
1994Nature Genetics614 citations Open access
Semantic Scholar
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes
P. Rutland, L. Pulleyn, W. Reardon, M. Baraitser +8 more
1995Nature Genetics443 citations
Semantic Scholar
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene
M. Bitner-Glindzicz, K. Lindley, P. Rutland, D. Blaydon +16 more
2000Nature Genetics334 citations
Semantic Scholar
Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein
L. McGregor, V. Makela, S. Darling, S. Vrontou +21 more
2003Nature Genetics256 citations
Semantic Scholar
First report of Mycobacterium bovis DNA in human remains from the Iron Age.
G. Taylor, E. Murphy, R. Hopkins, P. Rutland +1 more
2007Microbiology177 citations Open access
Semantic Scholar
Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.
M. Oldridge, A. O. Wilkie, S. Slaney, M. Poole +6 more
1995Human Molecular Genetics133 citations
Semantic Scholar
Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.
Willie Reardon, D. Wilkes, P. Rutland, L. Pulleyn +9 more
1997Journal of Medical Genetics97 citations Open access
Semantic Scholar
A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans.
D. Wilkes, P. Rutland, L. Pulleyn, Willie Reardon +4 more
1996Journal of Medical Genetics86 citations Open access
Semantic Scholar
Spectrum of Craniosynostosis Phenotypes Associated with Novel Mutations at the Fibroblast Growth Factor Receptor 2 Locus
L. Pulleyn, W. Reardon, D. Wilkes, P. Rutland +8 more
1996European Journal of Human Genetics80 citations
Semantic Scholar
FOXRED 1 , encoding a FAD-dependent oxidoreductase complex-I specific molecular chaperone , is mutated in infantile-onset mitochondrial encephalopathy
E. Fassone, A. Duncan, J. Taanman, A. Pagnamenta +8 more
201059 citations
Semantic Scholar
Mycobacterium leprae genotype amplified from an archaeological case of lepromatous leprosy in Central Asia
G. Taylor, S. Blau, S. Mays, M. Monot +5 more
200953 citations Open access
Semantic Scholar
A novel homeobox mutation in the PITX2 gene in a family with Axenfeld‐Rieger syndrome associated with brain, ocular, and dental phenotypes
F. Idrees, A. Bloch-Zupan, S. Free, D. Vaideanu +9 more
2006American Journal of Medical Genetics Part B: Neuropsychiatric Genetics51 citations
Semantic Scholar
Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination
N. Wolf, M. Cundall, P. Rutland, E. Rosser +7 more
2006Neurogenetics48 citations
Semantic Scholar
The estimation of fetal haemoglobin in healthy adults by radioimmunoassay
P. Rutland, M. Pembrey, T. Davies
1983British Journal of Haematology47 citations
Semantic Scholar
Plant Secondary Metabolites with an Overview of Populus
A. Movahedi, Amir Almasi Zadeh Yaghuti, Hui Wei, P. Rutland +4 more
2021International Journal of Molecular Sciences43 citations Open access
Semantic Scholar
FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy.
E. Fassone, A. Duncan, J. Taanman, A. Pagnamenta +8 more
2015Human Molecular Genetics38 citations Open access
Semantic Scholar
Mitochondrial m.1584A 12S m62A rRNA methylation in families with m.1555A>G associated hearing loss
M. O'Sullivan, P. Rutland, D. Lucas, E. Ashton +3 more
2014Human Molecular Genetics35 citations Open access
Semantic Scholar
Tuberculosis among Iron Age individuals from Tyva, South Siberia: palaeopathological and biomolecular findings
E. Murphy, Yuri Chistov, R. Hopkins, P. Rutland +1 more
200934 citations
Semantic Scholar
Application of intragenic DNA probes in prenatal screening for retinoblastoma gene carriers in the United Kingdom.
Z. Onadim, C. Mitchell, P. Rutland, B. Buckle +4 more
1990Archives of Disease in Childhood33 citations Open access
Semantic Scholar
Amitriptyline and weight gain: a biochemical and endocrinological study.
B. Nakra, P. Rutland, S. Verma, R. Gaind
1977Current Medical Research and Opinion32 citations
Semantic Scholar
Diurnal variation in the effects of insulin on blood glucose, plasma non-esterified fatty acids and growth hormone
T. Gibson, L. Stimmler, R. Jarrett, P. Rutland +1 more
2004Diabetologia31 citations Open access
Semantic Scholar
Genetic and cytogenetic analysis of patients showing reduced esterase-D levels and mental retardation from a survey of 500 individuals with retinoblastoma.
John K. Cowell, J. Hungerford, P. Rutland, M. Jay
1989Ophthalmic Paediatrics and Genetics28 citations
Semantic Scholar
Mutation analysis in CD40 ligand deficiency leading to X‐linked hypogammaglobulinemia with hyper IgM syndrome
F. Katz, S. Hinshelwood, P. Rutland, Alison Jones +2 more
1996Human Mutation25 citations Open access
Semantic Scholar
An assessment of the usefulness of electrophoretic variants of esterase-D in the antenatal diagnosis of retinoblastoma in the United Kingdom.
J. Cowell, M. Jay, P. Rutland, J. Hungerford
1987British Journal of Cancer23 citations Open access
Semantic Scholar
Anatomy, histology, development and functions of Ossa cordis: A review
Adam Best, M. Egerbacher, Sophia Swaine, William Pérez +8 more
2022Anatomia, Histologia, Embryologia. Journal of Veterinary Medicine Series C21 citations Open access
Semantic Scholar
The plasma insulin and growth hormone response to oral glucose: Diurnal and seasonal observations in the antarctic
I. Campbell, R. Jarrett, P. Rutland, L. Stimmler
1975Diabetologia21 citations Open access
Semantic Scholar
Genomic Insights into Cardiomyopathies: A Comparative Cross-Species Review
Siobhan Simpson, P. Rutland, Catrin Rutland
2017Veterinary Sciences19 citations Open access
Semantic Scholar
The need to screen all retinoblastoma patients for esterase D activity: detection of submicroscopic chromosome deletions.
John K. Cowell, E. Thompson, P. Rutland
1987Archives of Disease in Childhood15 citations Open access
Semantic Scholar
Kantaputra mesomelic dysplasia: A second reported family
D. Shears, A. Offiah, P. Rutland, T. Sirimanna +2 more
2004American Journal of Medical Genetics. Part A14 citations
Semantic Scholar
A chromosomal breakpoint that separates the esterase D and retinoblastoma predisposition loci in a patient with del(13)(q14q31).
John K. Cowell, J. Hungerford, P. Rutland, M. Jay
1987Cancer Genetics and Cytogenetics14 citations
Semantic Scholar
Deletions of the esterase D locus from a survey of 200 retinoblastoma patients
John K. Cowell, P. Rutland, M. Jay, J. Hungerford
1986Human Genetics8 citations
Semantic Scholar
Deletion of chromosome region 13q14 is transmissible and does not always predispose to retinoblastoma
J. Cowell, P. Rutland, J. Hungerford, M. Jay
1988Human Genetics7 citations
Semantic Scholar
Screening of interleukin 17F gene polymorphisms and eight subgingival pathogens in chronic periodontitis in Libyan patients
Eshraq Alsherif, I. Alhudiri, M. Eljilani, Ahmad M. Ramadan +3 more
2023Libyan Journal of Medicine5 citations Open access
Semantic Scholar
Retinoblastoma – Clinical and Genetic Aspects: A Review
John K. Cowell, J. Hungerford, M. Jay, P. Rutland
1988Journal of the Royal Society of Medicine5 citations Open access
Semantic Scholar
Effect of the esterase-D phenotype on its in vitro enzyme activity
John K. Cowell, P. Rutland, M. Jay, J. Hungerford
1986Human Genetics4 citations
Semantic Scholar
Effect of Adrenaline on Plasma Vitamin C Levels in Normal Subjects
B. Cox, A. Clarkson, M. Whichelow, P. Rutland
1974Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme3 citations Open access
Semantic Scholar
Correlation of phenotype and genotype in phenylketonuria patients of the eastern FRG homozygous for the R408W and R261Q point mutations of the phenylalanine hydroxylase locus
E. Kunert, C. Wolf, F. Güttler, L. Tyfield +3 more
19932 citations
Semantic Scholar
FOXRED1 mutations are a novel cause of mitochondrial complex I deficiency
E. Fassone, A. Duncan, J. Taanman, A. Pagnamenta +8 more
20111 citations
Semantic Scholar
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness, identifies the gene for Usher syndrome type 1C.
M. Bitner-Glindzicz, P. Rutland, K. Lindley, D. Blaydon +14 more
20001 citations
Semantic Scholar
BIOCHEMICAL AND MOLECULAR ANALYSIS IN MITOCHONDRIAL COMPLEX I DEFICIENT CHILDREN
E. Fassone, A. Duncan, J. Taanman, A. Pagnamenta +8 more
20110 citations
Semantic Scholar
P47 Mutations in the novel chaperone FOXRED1 cause mitochondrial complex I deficiency
E. Fassone, A. Duncan, J. Taanman, A. Pagnamenta +8 more
20110 citations
Semantic Scholar
X-inactivation pattern in females with CMTX 1
P. Kassavetis, J. Rothwell, M. Edwards, A. Duncan +10 more
20110 citations
Semantic Scholar
Mutation in FGF3 causes absent inner ear development and microtia
M. Bitner-Glindzicz, P. Rutland, W. Pagarkar, D. Saunders
20070 citations
Semantic Scholar
A recessive contiguous gene syndrome identifies the type 1C Usher gene
M. Bitner-Glindzicz, K. Lindley, P. Rutland, D. Blaydon +12 more
20000 citations
Semantic Scholar
The major cystic fibrosis mutation in a British population
C. McMahon, S. Genet, Helen Middleton-Price, P. Rutland +2 more
1990Human Genetics0 citations
Semantic Scholar
Retinoblastoma- clinical andgenetic aspects: a review
Jk CowellPhD, P. Rutland
19880 citations
Semantic Scholar
Effect of Adrenaline on Plasma Vitamin C Levels in Normal Subjects
B. Cox, A. Clarkson, M. Whichelow, P. Rutland
19750 citations Open access
Semantic Scholar
deletions . submicroscopic chromosome esterase D activity : detection of retinoblastoma patients for The need to screen all
J. Cowell, E. Thompson, P. Rutland
0 citations
Semantic Scholar

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