M. Abbott

发表

Anticipation and instability of IT-15 (CAG)n repeats in parent-offspring pairs with Huntington disease.

S. Folstein, O. C. Stine, H. Kazazian, 1995, American journal of human genetics.

Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats.

P S Harper, D Curtis, S. Folstein, 1996, American journal of human genetics.

Trinucleotide repeat length instability and age of onset in Huntington's disease

J. Penney, S. Folstein, A. Falek, 1993, Nature Genetics.

Correlation between the onset age of Huntington's disease and length of the trinucleotide repeat in IT-15.

C A Ross, S. Folstein, C. Ross, 1993, Human molecular genetics.

Prevalence of cortisol deficiency in late HIV disease.

M. Abbott, E. Wilkins, S. Khoo, 1995, The Journal of infection.

Does CAG repeat number predict the rate of pathological changes in Huntington's disease?

E. Aylward, C. Ross, A. Rosenblatt, 1998, Annals of neurology.

A type X collagen mutation causes Schmid metaphyseal chondrodysplasia

B. Olsen, M. Warman, T. Hefferon, 1993, Nature Genetics.

Phenotypic heterogeneity in Huntington disease.

S. Folstein, M. Folstein, G. Chase, 1984, Journal of neurogenetics.

Kinetics and distribution of 111Indium-labeled platelets in patients with homocystinuria.

T. Guilarte, E. Murphy, R. Pyeritz, 1982, The New England journal of medicine.

The familial component in longevity. A study of offspring of nonagenarians. II. Preliminary analysis of the completed study.

E. Murphy, M. Abbott, H. Abbey, 1974, The Johns Hopkins medical journal.

Fine mapping of the nail-patella syndrome locus at 9q34.

A. Schäffer, E. Puffenberger, D. Kwiatkowski, 1997, American journal of human genetics.

The familial component in longevity--a study of offspring of nonagenarians: III. Intrafamilial studies.

E. Murphy, M. Abbott, H. Abbey, 1978, American journal of medical genetics.

Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes : Robust Phenotype Prediction from the Type and Position of GLI 3 Mutations

E. Zackai, L. Biesecker, J. Graham, 2005 .

Concentration of mutations causing schmid metaphyseal chondrodysplasia in the C‐terminal noncollagenous domain of type X collagen

M. Abbott, C. Francomano, I. Mcintosh, 1995, Human mutation.

Report from the workshop on Pallister-Hall syndrome and related phenotypes.

L. Biesecker, J. Graham, A. Verloes, 1996, American journal of medical genetics.

Presymptomatic diagnosis of delayed-onset disease with linked DNA markers. The experience in Huntington's disease.

S. Folstein, J. Brandt, H. Kazazian, 1989, JAMA.

Psychiatric manifestations of homocystinuria due to cystathionine beta-synthase deficiency: prevalence, natural history, and relationship to neurologic impairment and vitamin B6-responsiveness.

S. Folstein, J. Opitz, R. Pyeritz, 1987, American journal of medical genetics.

The association of affective disorder with Huntington's Disease in a case series and in families

S. Folstein, M. Folstein, G. Chase, 1983, Psychological Medicine.

Overlap of PIV syndrome, VACTERL and Pallister–Hall syndrome: clinical and molecular analysis

L. Biesecker, M. Abbott, L. Biesecker, 2000, Clinical genetics.

Seckel's bird-headed dwarfism.

V. McKusick, M. Abbott, R. Lindenberg, 1967, The New England journal of medicine.

Huntington's disease: two families with differing clinical features show linkage to the G8 probe.

S. Folstein, D. Meyers, G. Chase, 1985, Science.

Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus.

B. Olsen, M. Warman, M. Abbott, 1994, Human molecular genetics.

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.

E. Zackai, A. Guttmacher, M. Bamshad, 2005, American journal of human genetics.

Genetics and Nursing

M. Abbott, 1999 .

Patients with features similar to Huntington's disease, without CAG expansion in huntingtin

J. Hodges, C. Ross, D. Rubinsztein, 1998, Neurology.

Huntington's disease gene (IT15) is widely expressed in human and rat tissues

S. Folstein, C. Ross, J. Hedreen, 1993, Neuron.

A phenocopy of Huntington's disease: lacunar infarcts of the corpus striatum.

S. Folstein, M. Folstein, M. Abbott, 1981, The Johns Hopkins medical journal.

Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome.

A. Schäffer, E. Green, L. Biesecker, 1997, Journal of medical genetics.

The association of CAG repeat length with clinical progression in Huntington disease

J. Brandt, C. Ross, A. Rosenblatt, 2006, Neurology.

Predictors of neuropathological severity in 100 patients with Huntington's disease

J. Brandt, C. Ross, J. Troncoso, 2003, Annals of neurology.

Familial influence on age of onset among siblings with Huntington disease.

M. Hayden, C. Ross, R. Brinkman, 2001, American journal of medical genetics.

Homocystinuria: Kinetics and Distribution of 111In-Labelled Platelets

T. Guilarte, E. Murphy, R. Pyeritz, 1984 .

Dentatorubral and pallidoluysian atrophy (DRPLA) Clinical and neuropathological findings in genetically confirmed north american and european pedigrees

M. Porteous, M. Wagster, N. Ranen, 1997, Movement disorders : official journal of the Movement Disorder Society.

Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome.

A. Schäffer, J. Graham, S. Kang, 1996, Journal of medical genetics.

Two novel single-base-pair substitutions adjacent to the CAG repeat in the huntington disease gene (IT15): implications for diagnostic testing.

C. Ross, A. Rosenblatt, R. Margolis, 1999, American journal of human genetics.

Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome.

A. Schäffer, E. Green, L. Biesecker, 1997, Journal of medical genetics.

Two kindreds with a sex-linked recessive form of spastic paraplegia.

M. Abbott, C. Scott, T. Thurmon, 1971, Birth defects original article series.