Publications for Dr Peter Turnpenny, Dr Carole Brewer, Dr Julia Rankin and Dr Emma Kivuva
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Books: Secrets
in the Genes - Adoption, inheritance and genetic disease.
Edited by Peter Turnpenny Author
for chapters:
Chapters: Defective somitogenesis and abnormal vertebral
segmentation in man DLL3, MESP2, LNFG and
spondylocostal dysostosis Delta-like 3 and spondylocostal
dysotosis Genetics and genetic modification
of humans: principles, practice and possibilities Human Genetics and Genetic
Enhancement Kyphomelic dysplasia
Peer Reviewed Papers: Mutations
in the MESP2 gene cause Spondylothoracic Dysostosis/Jarcho-Levin
syndrome Deletion
3q22.1-q23 with BPES and an AHO-like brachydactyly pheneotype A
high frequency of the MTHFR 677 C>T polymorphism
in Scottish women with epilepsy: Possible role in pathogenesis Alagille
syndrome with deletion 20p 12.2-p12.3 and hypoplastic
left heart Fetal
Anticonvulsant syndromes and polymorphisms in MTHFR,
MTR and MTRR Hereditary
sacrococcygeal teratoma - not the same as its sporadic
counterpart! Infantile
high myopia in Bohring-Opitz syndrome Disruption
of the somitic molecular clock causes abnormal vertebral
segmentation A
Case of Multiple Vertebral Segmentation Defects, Unilateral
Renal Agenesis, and an Unusual "Cooley-like"
Hand Appearance Abnormal
vertebral segmentation and the Notch signalling pathway
in man. (Review) Formation
errors of the vertebral column An
absence of cutaneous neurofibromas associated with a
3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972del
AAT): evidence of a clinically significant NF1 genotype-phenotype
correlation Phenotypic
Multiple Endocrine Neoplasia Type 2B, Without Endocrinopathy
or RET Gene Mutation: Implications for Management Mutations
in SOX2 cause anophthalmia-esophageal-genital (AEG)
syndrome Mutation
of the LUNATIC FRINGE Gene in Humans Causes Spondylocostal
Dysostosis with a Severe Vertebral Phenotype Characteristics
of fetal anticonvulsant syndrome associated with autistic
disorder Classification
of congenital malformations based on a study of 84 patients
and genetic models of spinal development Pseudo-dominant
inheritance of spondylocostal dysostosis type 1 caused
by two familial delta-like 3 mutations Mutated
MESP2 causes spondylocostal dysostosis in humans Deletion
of the distal long arm of chromosome 10; is there a
characteristic phenotype? A report of 15 de novo and
familial cases Molecular
genetic prenatal diagnosis for a case of autosomal recessive
spodylocostal dysostosis Novel
mutations in DLL3, a somitogenesis gene encoding a ligand
for the Notch signalling pathway, causing a consistent
pattern of abnormal vertebral segmentation in spondylocostal
dysostosis Of
eponyms, acronyms and ...orthonyms HRPT2,
encoding parafibromin, is mutated in hyperparathyroidism-jaw
tumor syndrome Okihiro
syndrome is caused by SALL4 mutations Ophthalmic
findings in fetal anticonvulsant syndrome(s) Long
term health and neurodevelopment in children exposed
to anti-epileptic drugs before birth A
descriptive study of UK cancer genetic services: and
emerging clinical response to the new genetics Deletion
22q11 syndrome - acknowledging a lost eponym as we say
farewell to an acronym
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The first description of lethal pterygium syndrome with facial
clefting (Bartsocas-Papas) in 1600. Trifid incisors with multiple systemic findings; a patient in
search of a diagnosis. Ten years of presymptomatic testing for Huntington's disease: the
experience of the UK Huntington's A clinical study of 57 children with fetal anticonvulsant
syndromes. Mutations in human Delta homologue DLL3 cause axial skeletal
defects in spondylocostal dysostosis. Developing diagnostic criteria for the fetal anticonvulsant
syndromes. Fetal anticonvulsant syndrome and mutation in the maternal MTHFR
gene. HMSN and HNPP. Laboratory service provision in the south west of England
- two years' experience. A gene for autosomal recessive spondylocostal dysostosis maps to
19q13.1-13.3. A worldwide assessment of the frequency of suicide, suicide
attempts, or psychiatric hospitalization after predictive testing for
Huntington Disease. Delineation of two distinct 6p deletion syndromes. Four cases of amelia of the upper limb associated with anal
atresia - is this VACTERL with extreme limb involvement? Genetic studies into inherited and sporadic hemolytic uremic
syndrome. Bilateral microphthalmia, esophageal atresia, and cryptorchidism:
the anophthalmia-esophageal-genital syndrome. A four generation hidrotic ectodermal dysplasia family: an allelic
variant of Clouston syndrome? Identification of women at high genetic risk of breast cancer
through the National Health Service Breast Screening Programme
(NHSBSP). Ascertainment of myotonic dystrophy through cataract by selective
screening. Further mutations in Brain 4 (POU3F4) clarify the phenotype in the
X-linked deafness, DFN3. Intelligence quotient profile in myotonic dystrophy:
intergenerational deficit, and correlation with CTG amplification. Adoption, genetic disease, and DNA. (Annotation) The diagnosis of myotonic dystrophy. (Editorial) Fractured clavicle of the newborn in a population with a high
prevalence of grand multiparity: analysis of 78 consecutive cases. Severe prenatal infantile cortical hyperostosis (Caffey's
disease). Recurrent abortion, cystic hygroma, and incontinentia pigmenti. Weyers' ulnar ray/oligodactyly syndrome and the association of
midline abnormalities with ulnar ray defects. (Syndrome of the
month) Ectrodactyly-mandibulo-facial dysostosis: case report and
delineation of an entity. Cardio-facio-cutaneous syndrome with new ectodermal manifestations. Peripheral ischaemia and gangrene presenting at birth. (Review
article) Dwarfism, rhizomelic limb shortness, and abnormal face: a new
short stature syndrome sharing some features with the Robinow
Syndrome. Evidence for variable gene expression in a large inbred kindred
with autosomal recessive spondylocostal dysostosis Oligohydramnios sequence in a liveborn infant following chorionic
villus sampling. Kyphomelic dysplasia: the first 10 cases. Letters: Ketamine in severe acute asthma. Ectrodactyly with multiple congenital abnormalities. The diagnosis of non-immune hydrops of the newborn.
Named Lectures: 'Genes, Identity And Adoption' 'All Cancers Are Genetic But Some Are More Genetic Than Others' 'Cerebral Palsy - Could It Happen Again Doctor?'
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Publications: Ledig S, Jakubiczka
S, Neulen J, Brewer C, Wieacker
P. Ellard S,
Hattersley AT, Brewer CM, Vaidya
B Irving M, Hanson H, Turnpenny P, Brewer C, Mackie Ogilvie C, Davies A,
Berg J. (2003) Brewer CM, Holloway SH, Stone DH,
Carothers AD, FitzPatrick DF.
(2002) Brewer CM, Leek JP, Green AJ, Holloway
S, Bonthron DT, Markham AF, FitzPatrick DR.
(1999). Brewer CM, Holloway S, Zawalnyski P,
Schnizel A, FitzPatrick DR. (1998). Brewer CM, Holloway S, Schnizel A,
FitzPatrick DR (1998) Bradshaw N, Brewer C, FitzPatrick D, Murray G,
Rodgers F, Porteous M, Campbell H. (1998). Crosbie A, Brewer C, Campbell K, MacKay J.
(1998). CM Brewer, WWK Lam, C Hayward, E Grace,
ER Maher, DR FitzPatrick. (1998). Beckwith-Wiedemann syndrome in a child with
chromosome 18q deletion.
Brewer CM, Grace E, Stark GD, Gregory
DW, Howell RT, FitzPatrick DR.
(1997). Brewer CM, Fredericks BJ., Pont M.,
Stephenson JBP, Tolmie JL. (1996)
Brewer CM., Morrison N, Tolmie, JL. (1996)
Dickenson AH, Brewer CM, Hayes NA. 1985.
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Publications: Ho, LW., Carmichael, J.,
Swartz, J., Wyttenbach, A., Rankin,
J. and Rubinsztein, DC. Rankin, J., Wyttenbach, A. and
Rubinsztein D.C. Wyttenbach, A., Carmichael, J.,
Swartz, J., Furlong, R.A., Narain, Y., Rankin, J. and Rubinsztein D.C.
"Effects of heat shock, heat shock protein 40 (HDJ-2), and proteasome inhibition
on protein aggregation in cellular models of Huntington's disease" Furlong R.A., Narain, Y., Rankin, J., Wyttenbach, A. and
Rubinsztein D.C. Narain, Y., Wyttenbach, A., Rankin, J, Furlong, R., Rubinsztein,
D.C. Rankin, J., Strachan, T., Lako, M. and
Lindsay, S. Rubinsztein, D.C., Wyttenbach,
A. and Rankin
J. Bui, T.,
Rankin, J.,
Huguet, E.L., Smith, K., Ruben, S., Sharma, H., Strachan, T., Harris A.L., and
Lindsay, S. P A James,
J Rankin
and K Talbot Abstracts: Lindsay, S., Lako, M., Rankin, J., Woods, K., Curtis, A.C.,
McMahon, A.P., and Strachan, T.
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Dr Emma Kivuva (nee Roper) Top of Page |
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Publications: Familial Visceral Neuropathy - a defined entity? Brachydactyly with extrahepatic biliary atresia, patent
ductus arteriosus and seizures - a new syndrome? Placental mesenchymal dysplasia associated with fetal
aneuploidy. MCQs on renal physiology and genetics in C O'Callaghan (ED.)
Questions in Paediatrics for MRCPCH Part 1, Genetic amniocentesis: gestation-specific pregnancy outcome and
comparison of outcome following early and traditional amniocentesis Poster Presentations: De Barsy syndrome:
the first reported case in theUnited Kingdom Apparently balanced 1;9 translocation provides further
evidence for the role of euchromatin histone methyltransferase 1 (EuHMTase1) in
9q34 subtelomeric deletion syndrome. A unique variant form of Turner syndrome. Alopecia totalis, deafness,
hypogonadism, severe mental retardation and seizures Placental mesenchymal dysplasia in association with Klinefelter syndrome Prenatal interphase FISH: a cautionary tale Familial Visceral Neuropathy - a
defined entity? How do Patients' Belief Systems
Affect Their Uptake of Screening in FAP? Detection of novel mutations and polymorphisms in COL1A1 by SSCP in patients
with osteogenesis imperfecta Alopecia totalis, deafness,
hypogonadism, severe mental retardation and seizures The real Norman Roberts syndrome
Biochemical and genetic
screening in isolated and familial MEN1.
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