Baptista, J., Mercer, C., Prigmore, E., Gribble, S.M., Carter, N.P., Maloney, V., ...
We report the analyses of breakpoints in 31 phenotypically normal and 14 abnormal carriers of balanced translocations. Our study assesses the differences between balanced translocations in normal...
Kantarci, S., Ragge, N.K., Thomas, N.S., Robinson, D.O., Noonan, K.M., Russell, M.K., ...
Donnai-Barrow syndrome [Faciooculoacousticorenal (FOAR) syndrome; DBS/FOAR] is a rare autosomal recessive disorder resulting from mutations in the LRP2 gene located on chromosome 2q31.1. We report a...
Investigation of the origins of human autosomal inversions (2008)
Thomas, N.S., Bryant, V., Maloney, V., Cockwell, A.E., Jacobs, P.A.
A significant proportion of both pericentric and paracentric inversions have recurrent breakpoints and so could either have arisen through multiple independent events or be identical by descent (IBD)...
Zellweger syndrome resulting from maternal isodisomy of chromosome (2007)
Turner, C.L., Bunyan, D.J., Thomas, N.S., Mackay, D.J., Jones, H.P., Waterham, H.R., ...
Zellweger syndrome (ZS) is an autosomal recessive peroxisomal disorder that results from mutations in one of the peroxisome biogenesis (PEX) genes. This is the first patient reported with uniparental...
Dennis, N.R., Veltman, M.W.M., Thompson, R., Craig, E., Bolton, P.F., Thomas, N.S.
We present clinical data on 33 subjects with additional copies of the Prader-Willi-Angelman critical region (PWACR) contained in a supernumerary marker chromosome (SMC). Twenty-three subjects had a...
Cockwell, A.E., Maloney, V.K., Thomas, N.S., Smith, E.L., Gonda, P., Bass, P., ...
We report a 21-week gestation fetus terminated because of multiple congenital abnormalities seen on ultrasound scan, including ventriculomegaly, possible clefting of the hard palate, cervical...
Lachlan, K.L., Youings, S., Costa, T., Jacobs, P.A., Thomas, N.S.
We have undertaken a clinical study of 26 females with deletions of Xp including five mother–daughter pairs. Cytogenetic and molecular analyses have mapped the breakpoints of the deletions. We...
Mackay, D.J.G., Hahnemann, J.M.D., Boonen, S.E., Poerksen, S., Bunyan, D.J., White, H.E., ...
Transient neonatal diabetes mellitus (TNDM) is characterised by intra-uterine growth retardation, while Beckwith–Wiedemann syndrome (BWS) is a clinically heterogeneous overgrowth syndrome. Both...
Benito-Sanz, S., Huber, C., Thomas, N.S., Za-Carmona, M., Bunyan, D., ...
In the July 2005 and March 2006 issues of the Journal, Schneider et al.1 and Zinn et al.,2 respectively, reported mapping studies of SHOX (MIM 312865) deletions in patients with Léri-Weill...
Cockwell, A. E., Maloney, V. K., Thomas, N. S., Smith, E. L., Gonda, P., Bass, P., ...
We report a 21-week gestation fetus terminated because of multiple congenital abnormalities seen on ultrasound scan, including ventriculomegaly, possible clefting of the hard palate, cervical...
Gilling, M., Dullinger, J.S., Gesk, S., Metzke-Heidemann, S., Siebert, R., Meyer, T., ...
The pericentric inv(10)(p11.2q21.2) mutation has been frequently identified in cytogenetic laboratories, is phenotypically silent, and is considered to be a polymorphic variant. Cloning and...
Holden, S.T., Cox, J.J., Kesterton, I., Thomas, N.S., Carr, C., Woods, C.G.
BACKGROUND: The VACTERL with hydrocephalus (VACTERL-H) phenotype is recognised to be a severe manifestation of autosomal recessive Fanconi anaemia. Several families have been described in which the...
Barber, J.C., Thomas, N.S., Collinson, M.N., Dennis, N.R., Liehr, T., Weise, A., ...
Segmental aneuploidy usually has phenotypic consequences but unbalanced rearrangements without phenotypic consequences have also been reported. In particular, harmless deletions of G-dark bands 5p14...
Gribble, S.M., Prigmore, E., Burford, D.C., Porter, K.M., Ng, Bee Ling, Douglas, E.J., ...
Objective: To describe the systematic analysis of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes, characterise the structural chromosome...
Gribble, S.M., Prigmore, E., Burford, D.C., Porter, K.M., Ng, B.L., Douglas, E.J., ...
OBJECTIVE: To describe the systematic analysis of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes, characterise the structural chromosome...
Bunyan, D. J., Eccles, D. M., Sillibourne, J., Wilkins, E., Thomas, N. S., Shea-Simonds, J., ...
Multiplex ligation-dependent probe amplification (MLPA) is a recently described method for detecting gross deletions or duplications of DNA sequences, aberrations which are commonly overlooked by...
Bunyan, D.J., Eccles, D.M., Sillibourne, J., Wilkins, E., Thomas, N.S., Shea-Simonds, J., ...
Multiplex ligation-dependent probe amplification (MLPA) is a recently described method for detecting gross deletions or duplications of DNA sequences, aberrations which are commonly overlooked by...
SHOX mutations in a family and a fetus with Langer mesomelic dwarfism (2004)
Thomas, N. S., Maloney, V., Bass, P., Mulik, V., Wellesley, D., Castle, B.
Léri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD) are caused by mutations in the SHOX gene. LWD results from haploinsufficiency and is dominantly inherited, while the more...
SHOX mutations in a family and a fetus with Langer mesomelic dwarfism (2004)
Thomas, N.S., Maloney, V., Bass, P., Mulik, V., Wellesley, D., Castle, B.
Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD) are caused by mutations in the SHOX gene. LWD results from haploinsufficiency and is dominantly inherited, while the more...
Imbalances of distal 8p: extent, parental origin, predisposition and clinical significance (2004)
Barber, J., Maloney, V., Thomas, N.S., Van Zyl, B., Bunyan, D., McCormick, A., ...
A female patient with a de novo interstitial duplication of Xp11.2 to Xp11.4: case report (2004)
Clarkson, A., Willatt, L., Thomas, N.S., Baralle, D., James, M., Holden, S.
Functional disomy resulting from duplications of distal Xq2 (2004)
Lachlan, K., Collinson, M.N., Sandford, R.O.C., Van Zyl, B., Jacobs, P.A., Thomas, N.S.
Imbalances of distal 8p: extent, parental origin, predisposition and clinical significance (2004)
Barber, J., Maloney, V., Thomas, N.S., Van Zyl, B., Bunyan, D., McCormick, A., ...
A female patient with a de novo interstitial duplication of Xp11.2 to Xp11.4: case report (2004)
Clarkson, A., Willatt, L., Thomas, N.S., Baralle, D., James, M., Holden, S.
Good, C.D., Lawrence, K., Thomas, N.S., Price, C.J., Ashburner, J., Friston, K.J., ...
The amygdala, which plays a critical role in emotional learning and social cognition, is structurally and functionally sexually dimorphic in humans. We used magnetic neuroimaging and molecular...
Roberts, S. E., Maggouta, F., Thomas, N. S., Jacobs, P. A., Crolla, J. A.
Supernumerary marker chromosomes (SMCs) of chromosome 15, designated "SMC(15)s," are the most common SMC in humans, accounting for as much as 60% of all those observed. We report the characterization...
Aberrant recombination and the origin of Klinefelter syndrome (2003)
Trisomy is the most commonly identified chromosome abnormality in humans, occurring in at least 4% of all clinically recognized pregnancies; it is the leading known cause of pregnancy loss and of...
The Prader–Willi/Angelman syndrome critical region (PWACR) on 15q11-q13 is prone to structural rearrangements, including deletions (1), duplications (2) and supernumerary marker chromosomes...
Aberrant recombination and the origin of Klinefelter syndrome (2003)
Trisomy is the most commonly identified chromosome abnormality in humans, occurring in at least 4% of all clinically recognized pregnancies; it is the leading known cause of pregnancy loss and...
Ke, X., Thomas, N. S., Robinson, D. O., Collins, A.
Through the sequence analysis of 27 imprinted human genes and a set of 100 control genes we have developed a novel approach for identifying candidate imprinted genes based on the differences in...
Joyce, C.A., Dennis, N.R., Howard, F., Davis, L.M., Thomas, N.S.
Translocations occur in a proportion of couples affected by recurrent miscarriages. We describe two such families in which the underlying cause was a cryptic subtelomeric 11p;17p translocation...
Absence of 22q11 deletions in 211 patients with developmental delay analysed using PCR (2002)
Waite, S.J., Thomas, N.S., Barber, J.C.
The 22q11 deletion syndrome has been described by the acronym "CATCH 22" (Cardiac defects, Abnormal facies, Thymic hypoplasia, Cleft palate, and Hypocalcaemia resulting from 22q11 deletions)....
Bolton, Patrick Farrar, Dennis, N.R., Browne, C.E., Thomas, N.S., Veltman, M.W.M., Thompson, R.J., ...
This study investigated the phenotypic manifestations of interstitial duplications of chromosome 15 that involve the Prader-Willi/Angelman syndrome critical region (PWACR). Twenty-one affected...
Maternal folate polymorphisms and the etiology of human nondisjunction (2001)
Hassold, T.J., Burrage, L.C., Chan, E.R., Judis, L.M., Schwartz, S., James, S.J., ...
Attempts to identify genetic contributors to human meiotic nondisjunction have met with little, if any, success. Thus, recent reports linking Down syndrome to maternal polymorphisms at either of two...
Linkage analysis of the 5q31-33 candidate region for asthma in 240 UK families (2001)
Holloway, J.W., Lonjou, C., Beghe, B., Peng, Q., Gaunt, T.R., Gomes, I., ...
Atopy and asthma are complex genetic diseases resulting from the interactions of a number of genetic and environmental factors. We had previously reported allelic association between the IL9 marker...
Bolton, P.F., Dennis, N.R., Browne, C.E., Thomas, N.S., Veltman, M.W., Thompson, R.J., ...
This study investigated the phenotypic manifestations of interstitial duplications of chromosome 15 that involve the Prader-Willi/Angelman syndrome critical region (PWACR). Twenty-one affected...
Maternal sex chromosome non-disjunction: evidence for X chromosome-specific risk factors (2001)
Thomas, N.S., Ennis, S., Sharp, A.J., Durkie, M., Hassold, T.J., Collins, A.R., ...
Human trisomy is attributable to many different mechanisms and the relative importance of each mechanism is highly chromosome specific. The association between altered recombination and maternal...
Lewis, J.L., Chinswangwatanakul, W., Zheng, B., Marley, S.B., Nguyen, D.X., Cross, N.C., ...
This study investigated the influence of expression of proteins of the INK4 family, particularly p16, on the growth and self-renewal kinetics of hematopoietic cells. First, retrovirus-mediated gene...
[Genetic factors involved in asthma and atopy. Studies in British families] (2000)
Thomas, N.S., Wilkinson, J., Lio, P., Doull, I., Morton, N.E., Holgate, S.T.
Both asthma and atopy run families indicating a strong genetic component. To investigate possible candidate gene regions, we have recruited 131 families without reference to atopy and asthma (random...
Dent, C L, Lillycrop, K A, Estridge, J K, Thomas, N S, Latchman, D S
B lymphocytes contain an octamer-binding transcription factor, Oct-2, that is absent in most other cell types and plays a critical role in the B-cell-specific transcription of the immunoglobulin...
Thomas, N S, Matts, R L, Petryshyn, R, London, I M
We have recently shown a direct correlation between protein synthetic activity and the function of reversing factor (RF) as a catalyst of GDP-GTP exchange in whole reticulocyte lysates under normal...
Ct-1 and Oct-2 DNA-binding site specificity is regulated in vitro by different kinases.
Grenfell, S J, Latchman, D S, Thomas, N S
The transcription factors Oct-1 and Oct-2 bind differentially to three octamer binding sequences corresponding to the octamer binding site from the H2B promoter [ATGCTAATAA], a simple TAATGARAT...
Zonana, J, Gault, J, Davies, K J, Jones, M, Browne, D, Litt, M, ...
X-linked hypohidrotic ectodermal dysplasia (EDA) has been localized to the Xq12-q13.1 region. A panel of genomic DNA samples from 80 unrelated males with EDA has been screened for deletions at seven...
Consalez, G G, Thomas, N S, Stayton, C L, Knight, S J, Johnson, M, Hopkins, L C, ...
Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked humeroperoneal dystrophy associated with cardiomyopathy that is distinct from the Duchenne and Becker forms of X-linked muscular dystrophy....
Suthers, G. K., Hyland, V. J., Callen, D. F., Oberle, I., Rocchi, M., Thomas, N. S., ...
The fragile X syndrome is a very common disorder, but there has been little progress toward isolating the fragile X mutation (FRAXA). We describe a panel of 14 somatic cell hybrid lines,...
Dent, C L, Lillycrop, K A, Estridge, J K, Thomas, N S, Latchman, D S
B lymphocytes contain an octamer-binding transcription factor, Oct-2, that is absent in most other cell types and plays a critical role in the B-cell-specific transcription of the immunoglobulin...
Thomas, N S, Matts, R L, Petryshyn, R, London, I M
We have recently shown a direct correlation between protein synthetic activity and the function of reversing factor (RF) as a catalyst of GDP-GTP exchange in whole reticulocyte lysates under normal...
Roberts, S. E., Maggouta, F., Thomas, N. S., Jacobs, P. A., Crolla, J. A.
Supernumerary marker chromosomes (SMCs) of chromosome 15, designated “SMC(15)s,” are the most common SMC in humans, accounting for as much as 60% of all those observed. We report the...
Ct-1 and Oct-2 DNA-binding site specificity is regulated in vitro by different kinases.
Grenfell, S J, Latchman, D S, Thomas, N S
The transcription factors Oct-1 and Oct-2 bind differentially to three octamer binding sequences corresponding to the octamer binding site from the H2B promoter [ATGCTAATAA], a simple TAATGARAT...
Zonana, J, Gault, J, Davies, K J, Jones, M, Browne, D, Litt, M, ...
X-linked hypohidrotic ectodermal dysplasia (EDA) has been localized to the Xq12-q13.1 region. A panel of genomic DNA samples from 80 unrelated males with EDA has been screened for deletions at seven...
Consalez, G G, Thomas, N S, Stayton, C L, Knight, S J, Johnson, M, Hopkins, L C, ...
Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked humeroperoneal dystrophy associated with cardiomyopathy that is distinct from the Duchenne and Becker forms of X-linked muscular dystrophy....
Suthers, G. K., Hyland, V. J., Callen, D. F., Oberle, I., Rocchi, M., Thomas, N. S., ...
The fragile X syndrome is a very common disorder, but there has been little progress toward isolating the fragile X mutation (FRAXA). We describe a panel of 14 somatic cell hybrid lines,...
Zonana, J, Clarke, A, Sarfarazi, M, Thomas, N S, Roberts, K, Marymee, K, ...
X-linked hypohidrotic ectodermal dysplasia (H.E.D.) is a disorder of abnormal morphogenesis of ectodermal structures and is of unknown pathogenesis. Neither relatively accurate carrier detection nor...
Aland island eye disease: clinical and electrophysiological studies of a Welsh family.
Hawksworth, N R, Headland, S, Good, P, Thomas, N S, Clarke, A
Clinical and molecular genetic studies were performed on a single, large, white family, in which congenital nystagmus and moderate to high refractive error segregated as a sex linked trait with...
Duchenne muscular dystrophy in Wales: impact of DNA linkage analysis and cDNA deletion screening.
Norman, A M, Upadhyaya, M, Thomas, N S, Roberts, K, Harper, P S
A register of families with Duchenne muscular dystrophy (DMD) has been maintained in Wales since 1973. Since 1986 we have attempted to refine carrier status, and when necessary offer prenatal...
Dahl, N, Samson, F, Thomas, N S, Hu, L J, Gong, W, Herman, G, ...
The locus for X linked recessive myotubular myopathy (MTM1) has previously been mapped to Xq28 by linkage analysis. We report two new families that show recombination between MTM1 and either DXS304...
Genetic localisation of the RP2 type of X linked retinitis pigmentosa in a large kindred.
Wright, A F, Bhattacharya, S S, Aldred, M A, Jay, M, Carothers, A D, Thomas, N S, ...
Genetic linkage and deletion studies have led to the proposal that there are at least two loci on the X chromosome which are responsible for X linked retinitis pigmentosa (XLRP). One locus (RP3) has...
Becker muscular dystrophy: correlation of deletion type with clinical severity.
Norman, A M, Thomas, N S, Kingston, H M, Harper, P S
Molecular deletion screening with cDNA probes from the dystrophin gene was undertaken in patients with Becker muscular dystrophy from 58 separate families. Deletions were found in 41 (71%) of these...
X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci.
Thomas, N S, Williams, H, Cole, G, Roberts, K, Clarke, A, Liechti-Gallati, S, ...
We have studied the inheritance of several polymorphic Xq27/28 DNA marker loci in two three generation families with the X linked neonatal lethal form of centronuclear/myotubular myopathy (XL MTM)....
Kingston, H M, Thomas, N S, Pearson, P L, Sarfarazi, M, Harper, P S
A study of DNA restriction fragment polymorphisms and Becker muscular dystrophy has shown eight families informative for the cloned sequence L1.28, which is located on the short arm of the X...
Brown, C S, Pearson, P L, Thomas, N S, Sarfarazi, M, Harper, P S, Shaw, D J
The inheritance of a restriction fragment length polymorphism (RFLP) detected by a cloned DNA sequence (p754) from the short arm of the X chromosome has been studied in 14 Duchenne muscular dystrophy...
Zonana, J, Jones, M, Clarke, A, Gault, J, Muller, B, Thomas, N S
Hypohidrotic ectodermal dysplasia (EDA) has been localised to the q12-q13.1 region of the X chromosome by both physical and genetic mapping methods. Although linkage analysis using closely linked...
Clarke, A, Roberts, S H, Thomas, N S, Whitfield, A, Williams, J, Harper, P S
A syndrome of Duchenne muscular dystrophy (DMD), adrenal hypoplasia, glycerol kinase deficiency, and mental retardation has been recognised. We report a further case ascertained from a history of...
Molecular deletion analysis in Duchenne muscular dystrophy.
Thomas, N S, Ray, P N, Worton, R G, Harper, P S
Study of 165 unrelated patients with X linked muscular dystrophy (117 with Duchenne and 48 with Becker dystrophy) has shown nine Duchenne cases (8% of the total) where a molecular deletion was...
Thomas, N S, Williams, H, Elsas, L J, Hopkins, L C, Sarfarazi, M, Harper, P S
The linkage relationships of the gene for Emery-Dreifuss muscular dystrophy have been analysed in a large American kindred using DNA probes from different regions of the X chromosome. Close linkage...
Zonana, J, Roberts, S H, Thomas, N S, Harper, P S
We have restudied a fibroblast cell line from a female with marked manifestations of X linked hypohidrotic ectodermal dysplasia (HED) and a balanced X;9 translocation. Chromosome analysis showed a...
Ferguson, B M, Thomas, N S, Munoz, F, Morgan, D, Clarke, A, Zonana, J
Indirect molecular diagnosis of X linked hypohidrotic ectodermal dysplasia (XLHED), a congenital disorder of hair, teeth, and eccrine sweat glands, has been possible by linkage analysis. Direct...