Sort by:

• Highly Influential Citations
• Citations
• Acceleration
• Velocity
• Recency

Learn More

Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1

• Kimberly Ann McAllister, K. M. Grogg, +17 authors Douglas A. Marchuk
• Nature Genetics
• 1994

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by multisystemic vascular dysplasia and recurrent haemorrhage. Linkage for some families has been… (More)

PET scan investigations of Huntington's disease: cerebral metabolic correlates of neurological features and functional decline.

• Anne B. Young, John B. Penney, +6 authors Richard D. Hichwa
• Annals of neurology
• 1986

Fifteen drug-free patients with early to midstage Huntington's disease were evaluated with quantitative neurological examinations, scales for functional capacity, computed tomographic (CT) scans, and… (More)

A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12.

• Dallas W. Johnson, Jonathan N. Berg, +7 authors Douglas A. Marchuk
• Genome research
• 1995

Hereditary hemorrhagic telangiectasia (HHT) or Osler-Rendu-Weber (ORW) disease is an autosomal dominant vascular dysplasia. Initial linkage studies identified an ORW gene localized to 9q33-q34 but… (More)

Abnormalities of striatal projection neurons and N-methyl-D-aspartate receptors in presymptomatic Huntington's disease.

• Roger L Albin, Anne B. Young, +6 authors Anton Reiner
• The New England journal of medicine
• 1990

Positron emission tomography measures of benzodiazepine receptors in Huntington's disease.

• Vjera A. Holthoff, Robert A. Koeppe, +4 authors Anne B. Young
• Annals of neurology
• 1993

We performed positron emission tomographic (PET) measurements of the regional distribution volume of benzodiazepine receptors and regional glucose metabolism in 6 drug-free patients with early… (More)

Recommendations for standardized human pedigree nomenclature

• Robin L. Bennett, Kathryn A. Steinhaus, +6 authors Jan Hamanishi
• Journal of Genetic Counseling
• 1995

The construction of an accurate family pedigree is a fundamental component of a clinical genetic evaluation and of human genetic research. Previous surveys of genetic counselors and human genetic… (More)

A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33–34

• Marie T McDonald, K. A. Papenberg, +14 authors Douglas A. Marchuk
• Nature Genetics
• 1994

Hereditary,haemorrhagic telangiectasia (HHT), or Osler–Weber–Rendu disease, is an autosomal dominant vascular dysplasia of unknown pathogenesis leading to ‘widespread’ dermal, mucosal and visceral… (More)

How Does Type 1 Diabetes Develop ? The Notion of Homicide or b-Cell Suicide Revisited

• Mark A Atkinson, Jeffrey A Bluestone, +8 authors Christopher J Rhodes
• 2011

Despite decades of acknowledging that a loss of insulin-producing pancreatic b-cells is central to the disorder now referred to as type 1 diabetes, the specific roles for genetic susceptibility,… (More)

At-risk persons' attitudes toward presymptomatic and prenatal testing of Huntington disease in Michigan.

• Dorene S. Markel, Anne B. Young, John B. Penney
• American journal of medical genetics
• 1987

One hundred fifty-five individuals at 50% risk of inheriting Huntington disease (HD) were given a questionnaire surveying their sociodemographic characteristics, experience with HD, and attitudes… (More)

Motor dysfunction in olivopontocerebellar atrophy is related to cerebral metabolic rate studied with positron emission tomography.

• Geoffrey Rosenthal, Sid Gilman, +4 authors Stephen S. Gebarski
• Annals of neurology
• 1988

We compared the severity of motor dysfunction with local cerebral metabolic rates for glucose (lCMRGlc) and the degree of tissue atrophy in 30 patients with olivopontocerebellar atrophy (OPCA). We… (More)

• ‹
• 1
• 2
• 3
• ›