NEW CONSTANT MEAN CURVATURE SURFACES (2009)
M. Kilian, I. Mcintosh, N. Schmitt
Abstract. We use the DPW construction [5] to present three new classes of immersed CMC cylinders, each of which includes surfaces with umbilics. The first class consists of cylinders with one end...
Beaty, T. H, Hetmanski, J. B, Fallin, M. D, Park, J. W, Sull, J. W, McIntosh, I, ...
Isolated oral clefts, including cleft lip with/without cleft palate (CL/P) and cleft palate (CP), have a complex and heterogeneous etiology. Case-parent trios from three populations were used to...
Ocular abnormalities in nail patella syndrome (2006)
Raja, V, Sandanshiv, P, Neugebauer, M, Sweeney, E, McIntosh, I
Harmonic tori and their spectral data (2004)
This is an expository article which describes one approach to the construction and classification of harmonic tori "of finite type", namely, via their ring of polynomial Killing fields. To keep the...
Minimal Lagrangian 2-tori in CP^2 come in real families of every dimension. (2003)
It is shown that for every non-negative integer n, there is a real n-dimensional family of minimal Lagrangian tori in CP2, and hence of special Lagrangian cones in C3 whose link is a torus. The proof...
Special Lagrangian cones in C^3 and primitive harmonic maps (2002)
It is shown that every special Lagrangian cone in C3 determines, and is determined by, a primitive harmonic surface in the 6-symmetric space SU3/SO2. For cones over tori, this allows the...
Harmonic tori and generalised Jacobi varieties (2001)
This article shows that every non-isotropic harmonic 2-torus in complex projective space factors through a generalised Jacobi variety related to the spectral curve. Each map is composed of a...
Periodic discrete conformal maps (1999)
Hertrich-Jeromin, U., McIntosh, I., Norman, P., Pedit, F.
A discrete conformal map (DCM) maps the square lattice to the Riemann sphere such that the image of every irreducible square has the same cross-ratio. This paper shows that every periodic DCM can be...
Physical mapping of the nail patella syndrome interval at 9q34: ordering of STSs and ESTs (1998)
Lisitsyn, Nikolai A., Root, Holly, Kearns, William G., Francomano, Clair A., Clough, Mark V., Eyaid, Wafa’a M., ...
Peer Reviewed
Periodic Discrete Conformal Maps. (1998)
U. Hertrich-Jeromin, I. McIntosh, P. Norman, F. Pedit
this article we study a discrete geometry which is the simplest example for both theories. Following [1, 3] we will define a discrete conformal map (DCM) to be a map z : Z
The major urinary proteins of the mouse are encoded by a large multigene family composed of several distinct groups of genes distinguished by differences in sequence and expression characteristics....
Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection.
Jin, Y, Dietz, H C, Montgomery, R A, Bell, W R, McIntosh, I, Coller, B, ...
Glanzmann thrombasthenia (GT), an autosomal recessive bleeding disorder, results from abnormalities in the platelet fibrinogen receptor, GP(IIb)-IIIa (integrin alpha(IIb)beta3). A patient with GT was...
Mutation analysis of LMX1B gene in nail-patella syndrome patients.
McIntosh, I, Dreyer, S D, Clough, M V, Dunston, J A, Eyaid, W, Roig, C M, ...
Nail-patella syndrome (NPS), a pleiotropic disorder exhibiting autosomal dominant inheritance, has been studied for >100 years. Recent evidence shows that NPS is the result of mutations in the...
Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome.
Montgomery, R A, Geraghty, M T, Bull, E, Gelb, B D, Johnson, M, McIntosh, I, ...
Mutations in the FBN1 gene, which encodes fibrillin-1, cause Marfan syndrome (MFS) and have been associated with a wide range of milder, overlap phenotypes. The factors that modulate phenotypic...
Tavormina, P L, Bellus, G A, Webster, M K, Bamshad, M J, Fraley, A E, McIntosh, I, ...
We have identified a novel fibroblast growth factor receptor 3 (FGFR3) missense mutation in four unrelated individuals with skeletal dysplasia that approaches the severity observed in thanatophoric...
Consultation patterns in a community survey of men with benign prostatic hyperplasia.
Simpson, R J, Lee, R J, Garraway, W M, King, D, McIntosh, I
BACKGROUND. The Stirling benign prostatic hyperplasia natural history group have previously reported a prevalence of this condition of 255 per 1000 in a community study of 1610 men aged 40-79 years....
Haplotype Diversity in 11 Candidate Genes Across Four Populations
Beaty, T. H., Fallin, M. D., Hetmanski, J. B., McIntosh, I., Chong, S. S., Ingersoll, R., ...
Analysis of haplotypes based on multiple single-nucleotide polymorphisms (SNP) is becoming common for both candidate gene and fine-mapping studies. Before embarking on studies of haplotypes from...
The major urinary proteins of the mouse are encoded by a large multigene family composed of several distinct groups of genes distinguished by differences in sequence and expression characteristics....
Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection.
Jin, Y, Dietz, H C, Montgomery, R A, Bell, W R, McIntosh, I, Coller, B, ...
Glanzmann thrombasthenia (GT), an autosomal recessive bleeding disorder, results from abnormalities in the platelet fibrinogen receptor, GP(IIb)-IIIa (integrin alpha(IIb)beta3). A patient with GT was...
Consultation patterns in a community survey of men with benign prostatic hyperplasia.
Simpson, R J, Lee, R J, Garraway, W M, King, D, McIntosh, I
BACKGROUND. The Stirling benign prostatic hyperplasia natural history group have previously reported a prevalence of this condition of 255 per 1000 in a community study of 1610 men aged 40-79 years....
Mutation analysis of LMX1B gene in nail-patella syndrome patients.
McIntosh, I, Dreyer, S D, Clough, M V, Dunston, J A, Eyaid, W, Roig, C M, ...
Nail-patella syndrome (NPS), a pleiotropic disorder exhibiting autosomal dominant inheritance, has been studied for >100 years. Recent evidence shows that NPS is the result of mutations in the...
Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome.
Montgomery, R A, Geraghty, M T, Bull, E, Gelb, B D, Johnson, M, McIntosh, I, ...
Mutations in the FBN1 gene, which encodes fibrillin-1, cause Marfan syndrome (MFS) and have been associated with a wide range of milder, overlap phenotypes. The factors that modulate phenotypic...
Tavormina, P L, Bellus, G A, Webster, M K, Bamshad, M J, Fraley, A E, McIntosh, I, ...
We have identified a novel fibroblast growth factor receptor 3 (FGFR3) missense mutation in four unrelated individuals with skeletal dysplasia that approaches the severity observed in thanatophoric...
Haplotype Diversity in 11 Candidate Genes Across Four Populations
Beaty, T. H., Fallin, M. D., Hetmanski, J. B., McIntosh, I., Chong, S. S., Ingersoll, R., ...
Analysis of haplotypes based on multiple single-nucleotide polymorphisms (SNP) is becoming common for both candidate gene and fine-mapping studies. Before embarking on studies of haplotypes from...
Fine mapping of the nail-patella syndrome locus at 9q34.
McIntosh, I, Clough, M V, Schäffer, A A, Puffenberger, E G, Horton, V K, Peters, K, ...
Nail-patella syndrome (NPS), or onychoosteodysplasia, is an autosomal dominant, pleiotropic disorder characterized by nail dysplasia, absent or hypoplastic patellae, iliac horns, and nephropathy....
Achondroplasia is defined by recurrent G380R mutations of FGFR3.
Bellus, G A, Hefferon, T W, Ortiz De Luna, R I, Hecht, J T, Horton, W A, Machado, M, ...
Genomic DNA from 154 unrelated individuals with achondroplasia was evaluated for mutations in the fibroblast growth factor receptor 3 (FGFR3) transmembrane domain. All but one, an atypical case, were...
Nijbroek, G, Sood, S, McIntosh, I, Francomano, C A, Bull, E, Pereira, L, ...
Mutations in the gene encoding fibrillin-1 (FBN1), a component of the extracellular microfibril, cause the Marfan syndrome (MFS). This statement is supported by the observations that the classic...
Genetic studies on a new deficiency gene (PI*Ztun) at the PI locus.
Whitehouse, D B, Abbott, C M, Lovegrove, J U, McIntosh, I, McMahon, C J, Mieli-Vergani, G, ...
During a study of the alpha 1 antitrypsin (AAT) protein and its locus (PI) by high resolution isoelectric focusing and direct molecular analysis of 106 PIZ probands and their families, a new allele...
Shrimpton, A E, McIntosh, I, Brock, D J
We present an analysis of the frequency of 16 different cystic fibrosis (CF) mutant alleles in the Scottish population. Each allele was detected in DNA amplified by the polymerase chain reaction...
Achondroplasia and nail-patella syndrome: the compound phenotype
WRIGHT, M, AIN, M, CLOUGH, M, BELLUS, G, HURKO, O, MCINTOSH, I