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Literature DB >> 16555603

The Gordon Wilson Lecture: The clinical legacy of Jonathan Hutchinson (1828-1913): syndromology and dysmorphology meet genomics.

Victor A McKusick¹.

Abstract

Entities: Disease

Mesh：

Year: 2005 PMID： 16555603 PMCID： PMC1473126

Source DB: PubMed Journal: Trans Am Clin Climatol Assoc ISSN： 0065-7778

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18 in total

1. The cardiovascular aspects of Marfan's syndrome: a heritable disorder of connective tissue.

Authors: V A McKUSICK
Journal: Circulation Date: 1955-03 Impact factor: 29.690

2. Frederick Parkes WEBER--1863-1962.

Authors: V A MCKUSICK
Journal: JAMA Date: 1963-01-05 Impact factor: 56.272

3. An Address on the Importance of Post-Graduate Study: Delivered at the Opening of the Museums of the Medical Graduates College and Polyclinic, July 4th, 1900.

Authors: W Osler
Journal: Br Med J Date: 1900-07-14

4. The clinical observations of Jonathan Hutchinson.

Authors: V A McKUSICK
Journal: Am J Syph Gonorrhea Vener Dis Date: 1952-03

5. Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits; a syndrome of diagnostic significance.

Authors: H JEGHERS; V A McKUSICK; K H KATZ
Journal: N Engl J Med Date: 1949-12-22 Impact factor: 91.245

6. On lumpers and splitters, or the nosology of genetic disease.

Authors: V A McKusick
Journal: Perspect Biol Med Date: 1969 Impact factor: 1.416

7. Somatic mutation of the Peutz-Jeghers syndrome gene, LKB1/STK11, in malignant melanoma.

Authors: P Guldberg; P thor Straten; V Ahrenkiel; T Seremet; A F Kirkin; J Zeuthen
Journal: Oncogene Date: 1999-03-04 Impact factor: 9.867

8. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.

Authors: Maria Eriksson; W Ted Brown; Leslie B Gordon; Michael W Glynn; Joel Singer; Laura Scott; Michael R Erdos; Christiane M Robbins; Tracy Y Moses; Peter Berglund; Amalia Dutra; Evgenia Pak; Sandra Durkin; Antonei B Csoka; Michael Boehnke; Thomas W Glover; Francis S Collins
Journal: Nature Date: 2003-04-25 Impact factor: 49.962

The Gordon Wilson Lecture: The clinical legacy of Jonathan Hutchinson (1828-1913): syndromology and dysmorphology meet genomics.

1. The cardiovascular aspects of Marfan's syndrome: a heritable disorder of connective tissue.

2. Frederick Parkes WEBER--1863-1962.

3. An Address on the Importance of Post-Graduate Study: Delivered at the Opening of the Museums of the Medical Graduates College and Polyclinic, July 4th, 1900.

4. The clinical observations of Jonathan Hutchinson.

5. Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits; a syndrome of diagnostic significance.

6. On lumpers and splitters, or the nosology of genetic disease.

7. Somatic mutation of the Peutz-Jeghers syndrome gene, LKB1/STK11, in malignant melanoma.

8. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.

9. Peutz-Jeghers syndrome: a clinicopathologic survey of the "Harrisburg family" with a 49-year follow-up.

10. Increased risk of cancer in the Peutz-Jeghers syndrome.

Review 1. From human genetics and genomics to pharmacogenetics and pharmacogenomics: past lessons, future directions.

Review 2. Chronic diabetic complications: the body's adaptive response to hyperglycemia gone awry?

3. Viewing Victor McKusick's legacy through the lens of his bibliography.