D. Trump

发表

Autism and other psychiatric comorbidity in neurofibromatosis type 1: evidence from a population‐based study

R. Emsley, Jonathan Green, D. Evans, 2013, Developmental medicine and child neurology.

Genotype-phenotype correlation in British families with X linked congenital stationary night blindness

F. Fitzke, A. Moore, J. Yates, 2003, The British journal of ophthalmology.

with X linked congenital stationary night blindness Genotype-phenotype correlation in British families

F. Fitzke, A. Moore, J. Yates, 2003 .

Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis.

D. Trump, K. Römisch, Tao Wang, 2002, Human molecular genetics.

X-linked retinoschisis: an update

P. Stanga, N. Parry, D. Trump, 2006, Journal of Medical Genetics.

Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.

S. Pearce, R. Thakker, I. Hughes, 1995, The Journal of clinical investigation.

Differential Regulation of Elastic Fiber Formation by Fibulin-4 and -5*

Chun Guo, A. Shuttleworth, C. Baldock, 2009, The Journal of Biological Chemistry.

Corrigendum: Clinical studies of multiple endocrine neoplasia type 1 (MEN1) (Q J Med (1996) 89 (653-659))

C. Edwards, R. Thakker, J. Sampson, 1996 .

Mutational analysis of PHEX gene in X-linked hypophosphatemia.

D. Schlessinger, I. Holm, R. Thakker, 1998, The Journal of clinical endocrinology and metabolism.

Report of two brothers with short stature, microcephaly, mental retardation, and retinoschisis—A new mental retardation syndrome?

S. Phadke, D. Trump, J. Urquhart, 2011, American journal of medical genetics. Part A.

Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis

C. Bolger, D. Evans, W. Newman, 2008, Journal of Medical Genetics.

X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients

A. Moore, J. Yates, K. Bradshaw, 2005, Journal of Medical Genetics.

X‐linked retinoschisis in a female with a heterozygous RS1 missense mutation

J. Thompson, E. Sheridan, D. Trump, 2007, American journal of medical genetics. Part A.

Construction of a YAC contig and an STS map spanning 3.6 megabase pairs in Xp22.1

D. Schlessinger, R. Thakker, M. Whyte, 2004, Human Genetics.

Fibulin 5 Forms a Compact Dimer in Physiological Solutions

Richard P. O. Jones, T. Jowitt, C. Baldock, 2009, The Journal of Biological Chemistry.

Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27.

D. Schlessinger, K. Davies, R. Thakker, 1998, Journal of medical genetics.

Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3

Julian R. E. Davis, Y. Crow, W. Newman, 2011, American journal of medical genetics. Part A.

Mutations in the CACNA1F and NYX genes in British CSNBX families

A. Meindl, A. Bird, A. Webster, 2003, Human mutation.

Correlations between clinical and physiological consequences of the novel mutation R878C in a highly conserved pore residue in the cardiac Na+ channel

A. Grace, X. Zhou, T. Zimmer, 2008, Acta physiologica.

Multiple Loss-of-Function Mechanisms Contribute to SCN5A-Related Familial Sick Sinus Syndrome

Richard P. O. Jones, T. Zimmer, D. Trump, 2010, PLoS ONE.

Mutation‐Specific Effects of Polymorphism H558R in SCN5A‐Related Sick Sinus Syndrome

T. Zimmer, D. Trump, Tao Wang, 2010, Journal of cardiovascular electrophysiology.

Learning and behavioural difficulties but not microcephaly in three brothers resulting from undiagnosed maternal phenylketonuria.

R. Reading, C. Shaw-Smith, D. Trump, 2004, Child: care, health and development.

Blomstrand osteochondrodysplasia: three novel cases and histological evidence for heterogeneity

D. Trump, R. Oostra, R. Scott, 2000, Virchows Archiv.

SMARCB1 mutations are not a common cause of multiple meningiomas

D. Evans, W. Newman, D. Trump, 2010, Journal of Medical Genetics.

Retinoschisin, a New Binding Partner for L-type Voltage-gated Calcium Channels in the Retina*

D. Trump, Kuihuan Jian, G. Ko, 2009, Journal of Biological Chemistry.

Notch3 activation modulates cell growth behaviour and cross-talk to Wnt/TCF signalling pathway.

C. Holt, D. Trump, M. Baron, 2007, Cellular signalling.

Genetics of patent foramen ovale—NKX2-5 and beyond

C. McCollum, G. Elliott, M. Sargurupremraj, 2010, Clinical Neurology and Neurosurgery.

X-linked retinoschisis maculopathy treated with topical dorzolamide, and relationship to genotype

A. Lotery, D. Trump, S. Khandhadia, 2011, Eye.

Wild-type and missense mutants of retinoschisin co-assemble resulting in either intracellular retention or incorrect assembly of the functionally active octamer.

N. Bulleid, D. Trump, L. Gleghorn, 2009, The Biochemical journal.

A comparison of ERG abnormalities in XLRS and XLCSNB

A. Moore, A. Hardcastle, K. Bradshaw, 2004, Documenta Ophthalmologica.

Neurofibromatosis 2 in a patient with a de novo balanced reciprocal translocation 46,X,t(X;22)(p11.2;q11.2)

S. Holden, F. Raymond, D. Trump, 2003, Journal of medical genetics.

Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation

B. Hartmann, P. Huppke, C. Pérez-Cerdá, 2017, Clinical genetics.

Temperature sensitive oculocutaneous albinism associated with missense changes in the tyrosinase gene

A. Moore, J. Yates, K. Bradshaw, 2005, British Journal of Ophthalmology.

Satellites on the terminal short arm of chromosome 12 (12ps), inherited through several generations in three families: a new variant without phenotypic effect

A. Green, L. Willatt, D. Trump, 2001, Journal of medical genetics.

Clinical studies of multiple endocrine neoplasia type 1 (MEN1)

C. Edwards, R. Thakker, J. Sampson, 1996, QJM : monthly journal of the Association of Physicians.

An overview of Notch3 function in vascular smooth muscle cells.

D. Trump, M. Baron, Tao Wang, 2008, Progress in biophysics and molecular biology.

Is Optic Nerve Fibre Mis-Routing a Feature of Congenital Stationary Night Blindness?

A. Moore, J. Yates, K. Bradshaw, 2005, Documenta Ophthalmologica.

Species specific membrane anchoring of nyctalopin, a small leucine-rich repeat protein.

Tao Wang, Birgit Eisenhaber, B. Eisenhaber, 2005, Human molecular genetics.

Inherited eye disease: cause and late effect.

A. Read, G. Black, D. Trump, 2005, Trends in molecular medicine.

3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome.

B. D. de Vries, A. Collins, J. Barber, 2005, American journal of human genetics.

Rates of loss of heterozygosity and mitotic recombination in NF2 schwannomas, sporadic vestibular schwannomas and schwannomatosis schwannomas

D. Evans, W. Newman, S. Rutherford, 2010, Oncogene.

Behaviour in children with neurofibromatosis type 1: cognition, executive function, attention, emotion, and social competence

S. Huson, A. Lehtonen, D. Trump, 2013, Developmental medicine and child neurology.

Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.

Julian R. E. Davis, T. Walsh, M. King, 2013, American journal of human genetics.

Inherited association of breast and colorectal cancer: limited role of CHEK2 compared with high‐penetrance genes

A. Shenton, F. Lalloo, D. Speake, 2006, Clinical genetics.

Progress in defining the molecular biology of age related macular degeneration

A. Lotery, D. Trump, 2007, Human Genetics.

Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus.

N. S. Thomas, F. Shawkat, C. Harris, 2007, Archives of ophthalmology.

Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes

A. Toutain, C. Wallgren‐Pettersson, J. Burn, 2002, European Journal of Human Genetics.

Perrault syndrome: further evidence for genetic heterogeneity

Julian R. E. Davis, A. Green, W. Reardon, 2012, Journal of Neurology.

Linkage studies in a kindred from Oklahoma, with familial benign (hypocalciuric) hypercalcaemia (FBH) and developmental elevations in serum parathyroid hormone levels, indicate a third locus for FBH

S. Pearce, R. Thakker, M. Whyte, 1995, Human Genetics.

Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa.

Richard P. O. Jones, T. Jowitt, C. Baldock, 2010, Investigative ophthalmology & visual science.

Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation

D. Trump, T. Wang, C. Waters, 2005, British Journal of Ophthalmology.

Mutations of the XLRS1 gene cause abnormalities of photoreceptor as well as inner retinal responses of the ERG

A. Moore, K. Bradshaw, N. George, 2004, Documenta Ophthalmologica.

Myoclonic movement disorder associated with microdeletion of chromosome 22q11

D. Baralle, C. ffrench-Constant, D. Dick, 2002, Journal of neurology, neurosurgery, and psychiatry.

Loss of heterozygosity studies at the retinoblastoma and breast cancer susceptibility (BRCA2) loci in pituitary, parathyroid, pancreatic and carcinoid tumours

M. Sheppard, R. Thakker, R. Clayton, 1996, Clinical endocrinology.

Human Genetics—A Problem Based Approach

D. Trump, 1997 .

Reduced secretion of fibulin 5 in age‐related macular degeneration and cutis laxa

Richard P. O. Jones, A. Luff, A. Lotery, 2006, Human mutation.

Cognition in children with neurofibromatosis type 1: data from a population‐based study

S. Huson, S. Garg, A. Lehtonen, 2015, Developmental medicine and child neurology.

Diagnosis of adrenal insufficiency

D. Trump, J. Monson, G. Toms, 1989 .

Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome.

K. Steel, D. Trump, S. Brown, 1998, American journal of human genetics.

Linkage Studies of a Missouri Kindred with Autosomal Dominant Spondyloepimetaphyseal Dysplasia (SEMD) Indicate Genetic Heterogeneity

R. Thakker, M. Whyte, P. Dixon, 1997, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Circadian regulation of retinoschisin in the chick retina.

D. Trump, G. Ko, M. Ko, 2008, Investigative ophthalmology & visual science.

Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells.

Juliet A. Ellis, D. Farber, J. Yates, 1999, Human molecular genetics.

Identification and characterization of the human homologue (RAI2) of a mouse retinoic acid-induced gene in Xp22.

P. Sieving, M. Ross, M. Vaudin, 1999, Genomics.

Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region.

A. Ballabio, A. Caruso, B. Franco, 1998, Genomics.

Positional Cloning in Xp 22 : towards the isolation of the gene involved in X-linked retinoschisis

W. Wagenaar, R. Pavitt, J. T. Dunnen, 2014 .

Festination as the leading symptom of late onset idiopathic aqueductal stenosis.

D. Baralle, J. Krauss, I. Whittle, 2002, Journal of neurology, neurosurgery, and psychiatry.

Retinoschisin Is Under Circadian Control in the Chick Retina

D. Trump, G. Ko, M. Ko, 2008 .

Congenital stationary night blindness associated with mutations in GRM6 encoding glutamate receptor MGluR6

K. Bradshaw, D. Trump, J. Boylan, 2006, British Journal of Ophthalmology.

LINKAGE STUDIES IN A KINDRED WITH HYPOCALCIURIC HYPERCALCEMIA AND INCREASING SERUM PARATHYROID-HORMONE LEVELS INDICATE GENETIC-HETEROGENEITY

R. Thakker, M. Whyte, D. Trump, 1993 .