The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping
Diastrophic dysplasia (DTD) is a well-characterized autosomal recessive osteochondrodysplasia
with clinical features including dwarfism, spinal deformation, and specific joint …
with clinical features including dwarfism, spinal deformation, and specific joint …
Characterization of the MODY3 phenotype. Early-onset diabetes caused by an insulin secretion defect.
M Lehto, T Tuomi, MM Mahtani… - The Journal of …, 1997 - Am Soc Clin Investig
Maturity-onset diabetes of the young (MODY) type 3 is a dominantly inherited form of diabetes,
which is often misdiagnosed as non-insulin-dependent diabetes mellitus (NIDDM) or …
which is often misdiagnosed as non-insulin-dependent diabetes mellitus (NIDDM) or …
Mapping of a gene for type 2 diabetes associated with an insulin secretion defect by a genome scan in Finnish families
MM Mahtani, E Widén, M Lehto, J Thomas… - Nature …, 1996 - nature.com
Non–insulin dependent diabetes mellitus (NIDDM) affects more than 100 million people
worldwide 1,2 and is associated with severe metabolic defects, including peripheral insulin …
worldwide 1,2 and is associated with severe metabolic defects, including peripheral insulin …
Physical and genetic mapping of the human X chromosome centromere: repression of recombination
MM Mahtani, HF Willard - Genome research, 1998 - genome.cshlp.org
Classical genetic studies in Drosophila and yeast have shown that chromosome centromeres
have a cis-acting ability to repress meiotic exchange in adjacent DNA. To determine …
have a cis-acting ability to repress meiotic exchange in adjacent DNA. To determine …
Pulsed-field gel analysis of α-satellite DNA at the human X chromosome centromere: high-frequency polymorphisms and array size estimate
MM Mahtani, HF Willard - Genomics, 1990 - Elsevier
Using pulsed-field gel analysis (PFGE), we have characterized the large array of α-satellite
DNA located in the centromeric region of the human X chromosome. The tandem repetitive …
DNA located in the centromeric region of the human X chromosome. The tandem repetitive …
Genome scan of schizophrenia
DF Levinson, MM Mahtani… - American Journal of …, 1998 - Am Psychiatric Assoc
OBJECTIVE: The goal of this study was to identify chromosomal regions likely to contain
schizophrenia susceptibility genes. METHOD: A genomewide map of 310 microsatellite DNA …
schizophrenia susceptibility genes. METHOD: A genomewide map of 310 microsatellite DNA …
The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants
BACKGROUND: The Personal Genome Project Canada is a comprehensive public data
resource that integrates whole genome sequencing data and health information. We describe …
resource that integrates whole genome sequencing data and health information. We describe …
A genome-wide scan in families with maturity-onset diabetes of the young: evidence for further genetic heterogeneity
…, Y Wang, J Mills, R Wright-Pascoe, MM Mahtani… - Diabetes, 2003 - Am Diabetes Assoc
Maturity-onset diabetes of the young (MODY) is a heterogeneous single gene disorder
characterized by non–insulin-dependent diabetes, an early onset and autosomal dominant …
characterized by non–insulin-dependent diabetes, an early onset and autosomal dominant …
A polymorphic X-linked tetranucleotide repeat locus displaying a high rate of new mutation: implications for mechanisms of mutation at short tandem repeat loci
MM Mahtani, HF Willard - Human molecular genetics, 1993 - academic.oup.com
We report a high rate of new mutation at a short tandem repeat sequence polymorphism (STR,
microsatellite) at locus DXS981 on the proximal long arm of the human X chromosome. …
microsatellite) at locus DXS981 on the proximal long arm of the human X chromosome. …
A primary genetic map of the pericentromeric region of the human X chromosome
MM Mahtani, HF Willard - Genomics, 1988 - Elsevier
We report a genetic linkage map of the pericentromeric region of the human X chromosome,
extending from Xp11 to Xq13. Genetic analysis with five polymorphic markers, including …
extending from Xp11 to Xq13. Genetic analysis with five polymorphic markers, including …
