N. Dennis

发表

Seven ring (X) chromosomes lacking the XIST locus, six with an unexpectedly mild phenotype

D. Skuse, P. Jacobs, C. Turner, 1999, Human Genetics.

Characterisation of interstitial duplications and triplications of chromosome 15q11–q13

L. Willatt, P. Jacobs, Simon N. Thomas, 2002, Human Genetics.

Clinical and mutational spectrum of Mowat-Wilson syndrome.

I. Krantz, K. Devriendt, H. Firth, 2005, European journal of medical genetics.

Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences

J. Barber, C. Lundsteen, N. S. Thomas, 2005, European Journal of Human Genetics.

Failure to find DUP25 in patients with anxiety disorders, in control individuals, or in previously reported positive control cell lines

J. Crolla, P. Jacobs, D. Baldwin, 2003 .

P.3.033 Failure to find DUP25 in patients with anxiety disorders, in control individuals, or in previously reported positive control cell lines

J. Crolla, P. Jacobs, D. Baldwin, 2003, European Neuropsychopharmacology.

Interstitial deletion of chromosome 17 (del(17)(q22q23.3)) confirms a link with oesophageal atresia

I. Temple, D. Burge, D. Wellesley, 2000, Journal of medical genetics.

Hirschsprung's disease and Waardenburg's syndrome.

L. Brooks, D. Branski, N. Dennis, 1979, Pediatrics.

Risks to the offspring of patients with some common congenital heart defects.

J. Warren, N. Dennis, J. Warren, 1981, Journal of medical genetics.

Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis

J. Crolla, F. L. Sitch, J. Harvey, 1995, Human Genetics.

FISH and molecular study of autosomal supernumerary marker chromosomes excluding those derived from chromosomes 15 and 22: I. Results of 26 new cases.

J. Crolla, H. Rivera, N. Dennis, 1998, American journal of medical genetics.

A molecular and FISH approach to determining karyotype and phenotype correlations in six patients with supernumerary marker(22) chromosomes.

J. Crolla, P. Howard, N. Dennis, 1997, American journal of medical genetics.

Parental and chromosomal origin of unbalanced de novo structural chromosome abnormalities in man

N. S. Thomas, P. Jacobs, M. Durkie, 2006, Human Genetics.

Importance of microdeletions of chromosomal region 22q11 as a cause of selected malformations of the ventricular outflow tracts and aortic arch: a three-year prospective study.

E. Hatchwell, J. Crolla, J. Barber, 1996, The Journal of pediatrics.

Population screening at the FRAXA and FRAXE loci: molecular analyses of boys with learning difficulties and their mothers.

P. Jacobs, A. Murray, S. Youings, 1996, Human molecular genetics.

An 11p;17p telomeric translocation in two families associated with recurrent miscarriages andMiller-Dieker syndrome

N. S. Thomas, N. Dennis, C. Joyce, 2002, European Journal of Human Genetics.

Microdeletions in FMR 2 may be a significant cause of premature ovarian failure

N. Morton, A. Murray, G. Conway, 1999 .

A non-isotopic in situ hybridisation study of the chromosomal origin of 15 supernumerary marker chromosomes in man.

J. Crolla, P. Jacobs, N. Dennis, 1992, Journal of medical genetics.

Characterization of breakpoints in the GABRG3 and TSPY genes in a family with a t(Y;15)(p11.2;q12)

J. Crolla, P. Jacobs, Simon N. Thomas, 2004, American journal of medical genetics. Part A.

Aetiology of mild mental retardation.

N. Dennis, M. Lamont, M. Lamont, 1988, Archives of disease in childhood.

FRAXA and FRAXE: evidence against segregation distortion and for an effect of intermediate alleles on learning disability.

N. Morton, P. Jacobs, A. Murray, 1998, Proceedings of the National Academy of Sciences of the United States of America.

Use of overlapping normal distributions in genetic counselling.

C. Carter, N. Dennis, 1978, Journal of medical genetics.

Holoprosencephaly: a family showing dominant inheritance and variable expression.

A. Collins, C. Garrett, P. Lunt, 1993, Journal of medical genetics.

Molecular analysis and prenatal diagnosis of human fumarase deficiency.

V. Ramesh, E. Christensen, O. Elpeleg, 1998, Molecular genetics and metabolism.

A comparison of the clinical and cytogenetic findings in nine patients with a ring (X) cell line and 16 45,X patients.

A. Collins, P. Jacobs, A. Cockwell, 1994, Journal of medical genetics.

Three patients with ring (X) chromosomes and a severe phenotype.

J. Crolla, A. Collins, P. Jacobs, 1993, Journal of medical genetics.

Elastin: mutational spectrum in supravalvular aortic stenosis

C. Cytrynbaum, W. Reardon, M. Tassabehji, 2000, European Journal of Human Genetics.

Osteopathia striata with sclerosis and thickening of the skull.

M. Paling, N. Dennis, I. Hyde, 1981, The British journal of radiology.

Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11‐q13

P. Bolton, N. S. Thomas, M. Veltman, 2006, American journal of medical genetics. Part A.

Xp deletions associated with autism in three females

D. Skuse, A. Sharp, N. S. Thomas, 1999, Human Genetics.

A study of females with deletions of the short arm of the X chromosome

D. Skuse, A. Sharp, N. S. Thomas, 1998, Human Genetics.

The fetal valproate syndrome.

C. Curry, J. Diliberti, P. Farndon, 1984, American journal of medical genetics.

Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.

J. Barber, J. Nicholson, C. Browne, 1997, American journal of human genetics.

Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11

R. Sandford, N. S. Thomas, P. Jacobs, 2006, European Journal of Human Genetics.

A supernumerary marker chromosome 15 tetrasomic for the Prader-Willi/Angelman syndrome critical region in a patient with a severe phenotype

J. Crolla, M. Veltman, N. Dennis, 2003, Journal of medical genetics.

Multipaint FISH: a rapid and reliable way to define cryptic and complex abnormalities

J. Barber, N. Dennis, C. Joyce, 1999, Clinical genetics.

Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance.

A. Green, J. Barber, L. Willatt, 1998, Journal of medical genetics.

Unbalanced translocation in a mother and her son in one of two 5;10 translocation families.

J. Barber, I. Temple, M. Collinson, 1996, American journal of medical genetics.

Mosaic tetrasomy 8p: molecular cytogenetic confirmation and measurement of glutathione reductase and tissue plasminogen activator levels.

J. Crolla, J. Barber, R. James, 1993, American journal of medical genetics.

Subtelomeric rearrangements: results from a study of selected and unselected probands with idiopathic mental retardation and control individuals by using high-resolution G-banding and FISH

C. Joyce, C. Browne, N. Dennis, 2001, Human Genetics.

Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes

R. Hennekam, N. S. Thomas, C. Eng, 2004, Journal of Medical Genetics.

20 patients with 2 q 37 . 3 monosomy : definition of minimum deletion intervals for key phenotypes

R. Hennekam, N. S. Thomas, C. Eng, 2004 .

Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes.

A. Karmiloff-Smith, J. Grant, W. Reardon, 1999, American journal of human genetics.

The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders.

P. Bolton, N. S. Thomas, P. Jacobs, 2001, American journal of medical genetics.

The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes

N. Carter, R. Sandstrom, H. Fiegler, 2005, Journal of Medical Genetics.

A mother and three daughters with congenital dislocation of the hip and a characteristic facial appearance: a new syndrome?

A. Collins, N. Dennis, N. Clarke, 1995, Clinical dysmorphology.

Peroxisomal disorders: clinical and biochemical studies in 15 children and prenatal diagnosis in 7 families.

S. Steinberg, A. Fensom, N. Dennis, 1999, American journal of medical genetics.

Array painting: a method for the rapid analysis of aberrant chromosomes using DNA microarrays

N. Carter, H. Fiegler, J. Crolla, 2003, Journal of Medical Genetics.

expression . dominant inheritance and variable Holoprosencephaly : a family showing

A. Collins, C. Garrett, P. Lunt, 2022 .

Lethal syndrome of slender bones, intrauterine fractures, characteristics facial appearance, and cataracts, resembling Hallermann-Streiff syndrome in two sibs.

I. Moore, J. Fairhurst, N. Dennis, 1995, American journal of medical genetics.

A clinical and genetic study of a manifesting heterozygote with X-linked myotubular myopathy

D. Ellison, C. Moutou, C. Kennedy, 2000, Neuromuscular Disorders.

Interstitial deletion of distal 13q associated with Hirschsprung's disease.

N. Dennis, M. Fitchett, M. Lamont, 1989, Journal of medical genetics.

Duplication 2q33→2q37 due to paternal ins (12;2) translocation

U. Francke, R. Bannerman, N. Dennis, 1978 .

An infant with trisomy 9pter yields 9q22 resulting from 3:1 segregation in a 46,XX t(1;9) (p36;q22) mother.

R. Bannerman, N. Dennis, R. Neu, 1979, Annales de genetique.

Chromosome 15q11-13 abnormalities and other medical conditions in individuals with autism spectrum disorders

P. Bolton, N. S. Thomas, E. Weisblatt, 2004, Psychiatric genetics.

Axial mesodermal dysplasia spectrum: affected sisters with oculoauriculovertebral "dysplasia" and caudal "regression" sequence.

N. Dennis, J. D. Atwell, 1994, American journal of medical genetics.

Hidrotic ectodermal dysplasia of hair, teeth, and nails: case reports and review.

L. Chitty, M. Baraitser, N. Dennis, 1996, Journal of medical genetics.

Rickets following Anticonvulsant Therapy

C. Newman, N. Dennis, 1972, Proceedings of the Royal Society of Medicine.

Weaver syndrome.

T. Cole, H. Hughes, N. Dennis, 1992, Journal of medical genetics.

Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients.

J. Barber, N. Dennis, C. Joyce, 1996, Journal of medical genetics.

Population studies of the fragile X: a molecular approach.

P. Jacobs, S. Youings, A. Watson, 1993, Journal of medical genetics.

New case of “Apple‐Peel” intestinal atresia and ocular anomalies with mosaic variegated aneuploidy

J. Barber, D. Wellesley, P. Hodgkins, 2001, American journal of medical genetics. Part A.

A Paternally Inherited Duplication in the Prader-Willi/ Angelman Syndrome Critical Region: A Case and Family Study

P. Bolton, M. Veltman, V. Moore, 2005, Journal of autism and developmental disorders.

X‐linked Opitz syndrome: Novel mutations in the MID1 gene and redefinition of the clinical spectrum

A. Ballabio, R. Winter, D. Chitayat, 2003, American journal of medical genetics. Part A.

Mirror hands and feet: a further case of Laurin-Sandrow syndrome.

E. Hatchwell, N. Dennis, 1996, Journal of medical genetics.

Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3.

L. Al-Gazali, R. Mueller, A. McCartney, 1990, Journal of medical genetics.

A Search for Uniparental Disomy in Carriers of Supernumerary Marker Chromosomes

J. Crolla, I. Temple, R. James, 1995, European journal of human genetics : EJHG.

Reduced penetrance alleles for Huntington’s disease: a multi-centre direct observational study

A. Rigby, F. Raymond, M. Losekoot, 2006, Journal of Medical Genetics.

The role of size, sequence and haplotype in the stability of FRAXA and FRAXE alleles during transmission.

N. Morton, P. Jacobs, A. Murray, 1997, Human Molecular Genetics.

Stability and haplotype analysis of the FRAXE region

N. Morton, P. Jacobs, A. Murray, 2000, European Journal of Human Genetics.

Duplication 2q33 leads to 2q37 due to paternal ins (12;2) translocation.

R. Bannerman, N. Dennis, R. Neu, 1978, American journal of medical genetics.

Osteopathia striata with sclerosis and thickening of the skull

M. Paling, N. Dennis, I. Hyde, 1981 .

Chromosome abnormalities in pupils attending ESN/M schools.

M. Seabright, N. Dennis, M. Lamont, 1986, Archives of disease in childhood.

Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome.

B. Migeon, K. Davies, J. Crolla, 1995, Journal of medical genetics.

A clinical, cytogenetic and molecular study of 47 females with r(X) chromosomes

D. Skuse, P. Jacobs, B. Coppin, 2000, Annals of human genetics.

A familial balanced inverted insertion ins(15)(q15q13q11.2) producing Prader–Willi syndrome, Angelman syndrome and duplication of 15q11.2‐q13 in a single family: Importance of differentiation from a paracentric inversion

J. Crolla, M. Collinson, N. Dennis, 2004, American journal of medical genetics. Part A.

Two46,XX,t(X;Y) females withlinear skin defects and congenital microphthalmia: a new syndrome atXp22.3

R. Mueller, A. McCartney, A. Caine, 1990 .

Two families with Xq27.3 fragility, no detectable insert in the FMR-1 gene, mild mental impairment, and absence of the Martin-Bell phenotype.

P. Jacobs, J. Macpherson, N. Dennis, 1992, American journal of medical genetics.

Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data.

W. Brown, P. Jacobs, D. Chitayat, 1999, American journal of medical genetics.

Further observations on the Floating-Harbor syndrome.

A. Collins, R. Houlston, I. Temple, 1994, Clinical dysmorphology.

Diagnostic classification of the aetiology of mental retardation in children.

N. Dennis, M. Lamont, 1987, British medical journal.

Array painting: a method for the rapid analysis of aberrant chromosomes using DNA microarrays

N. Carter, H. Fiegler, J. Crolla, 2003, Journal of medical genetics.