Facets

1927 CE

#3141

Anemia in children, with splenomegaly and peculiar changes in the bones.

“Cooley’s erythroblastic anemia”, thalassemia. With E. R. Witwer and O. P. Lee. An earlier brief account by Cooley and Lee appeared in Trans. Amer. Pediat. Soc.,1925, 37, 29.

1927 CE

#251.1

Artificial transmutation of the gene.

Muller showed that radiation causes mutations that are passed on from one generation to the next. This was the first suggestion that inherited traits might be altered or controlled, and it created a sensation: “…

1936 CE

#2865

Atlas of congenital cardiac disease.

1945 CE

#10653

Atrial septal defect: Study of hemodynamics by the technique of right heart catheterization.

The first description of the use of a cardiac catheter as a diagnostic tool, in this case a congenital heart defect. The authors worked in the laboratory of Eugene Stead, Jr. at Grady Memorial Hospital, Atlanta, Georgia.

1892 CE

#235

Aufsätze über Vererbung und verwandte biologische Fragen.

Weismann produced experimental evidence that acquired characters are not transmitted.

1928 CE

#2856.1

Beiträge zur Lehre von den angeborenen Herzfehlern.

Roesler described the most important roentgenologic sign of aortic coarctation.

1939 CE

#912

Blood groups.

Boyd showed that blood groups are inherited and not changed by environment.

1928 CE

#2652

Cancer and heredity.

By selective breeding over a period of 15 years, Slye produced generations of mice absolutely resistant to, or particularly susceptible to, cancer. She demonstrated that resistance is a Mendelian dominant and suscepti…

1788 CE

#3426

Case of a scirrhus in the pylorus of an infant.

First American case report on congenital hypertrophic pyloric stenosis. Cases and observations by the Medical Society of New-Haven County…was the first American medical periodical. Only one volume was published…

1900 CE

#11360

Cases with symmetrical congenital notches in the outer part of each lid and defective development of the malar bones.

Treacher Collins syndrome (TCS), a genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin. Also known as mandibulofacial dysostosis.

1979 CE

#14007

Characterization of a 54K Dalton cellular SV40 tumor antigen present in SV40 transformed cells and uninfected embryonal carcinoma cells.

Levine discovered the tumor suppressor protein p53, also known as Tumor protein P53. Because it prevents cancer formation TP 53 is classified as a tumor suppressor gene. The discovery was completed in 1989 and recorde…

2005 CE

#11335

Characterization of the reconstructed 1918 Spanish Influenza Pandemic virus.

Order of authorship in the original publication: Tumpey, Basler, Aguilar... Taubenberger. Reconstruction of the genome of the 1918 Spanish Influenza virus from frozen tissue samples from a mass grave of victims of the…

1913 CE

#3028.1

Chirurgie des malformations congénitales ou acquises du coeur.

First attempt at surgical relief of valvular disease of the heart (congenital pulmonary stenosis). Experimental valvotomy.

1941 CE

#4404

Chondrodystrophic dwarfs in Denmark (supplemented with investigations from Sweden and Norway) with special reference to the inheritance of chondrodystrophy.

Morch established the fact that chondrodystrophy may be inherited.

1952 CE

#3108.1

Christmas disease, a condition previously mistaken for haemophilia.

Christmas disease, hemophilia B, due to lack of Factor IX. Named after the patient whose case was the first recorded example. With six co-authors.

2020 CE

#11877

Clades of huge phages from across Earth's ecosystems.

Order of authorship in the original publication: Al-Shayeb, Sachdeva, Chen.... Doudna. Open access, available from nature.com at this link. This paper was a collaboration of about 50 scientists of diverse regions and …

1959 CE

#258.2

Classic papers in genetics.

1980 CE

#6893

Cloning in single-stranded bacteriophage as an aid to rapid DNA sequencing.

Sanger and colleagues developed the random shotgun method to prepare templates for DNA sequencing. With A. R. Coulson, B. G. Barrell, A. J. H. Smith & B. A. Roe.

1953 CE

#11678

Closure of atrial septal defects with the aid of hypothermia; experimental accomplishments and the report of one successful case.

Lewis performed the first successful open heart operation, closing an atrial septal defect in a 5-year-old girl on September 2, 1952. The procedure took 5.5 minutes. For the next three years Lewis and colleagues opera…

1891 CE

#5937

Colour-blindness and colour-perception.

Includes (p. 262 et seq.) description of Edridge-Green’s lantern test for color-blindness. This was officially adopted in Great Britain in 1915 in place of the Holmgren test.

1991 CE

#6886

Complementary DNA sequencing: "expressed sequence tags" and the human genome project.

Expressed Sequence Tags (ESTs) for DNA sequencing. By Adams, M.D., Kelley, J.M., Gocayne, J.D., Dubnick, M., Polymeropoulos, M.H., Xiao, H., Merril, C.R., Wu, A., Olde, B., Moreno, R., Kerlavage, A.R., McCombie, W.R.,…

1998 CE

#11342

Complete genome sequence of treponema pallidum, the syphilis spirochete.

Order of authorship in the original publication: Fraser, Norris, Weinstock....Smith, Venter. Sequence of the genome of the bacterium that causes syphilis. (Thanks to Juan Weiss for this reference and its interpretation.)

1949 CE

#12289

Complete transposition of the aorta and a levoposition of the pulmonary artery; clinical, physiological, and pathological findings.

Taussig–Bing syndrome, a cyanotic congenital heart defect[1] in which the patient has both double outlet right ventricle (DORV) and subpulmonic ventricular septal defect (VSD).[2]

1984 CE

#13991

Completion of mouse embryogenesis requires both the maternal and paternal genomes.

Solter discovered mammalian genomic imprinting that causes parent-of-origin specific gene expression, with consequences for development and disease. "Genomic imprinting is an epigenetic phenomenon that causes genes to…

1886 CE

#3790

Congenital absence of hair and mammary glands with atrophic condition of the skin and its appendages in a boy whose mother had been almost wholly bald from alopecia areata from the age of six.

First description of progeria.

1948 CE

#11766

Congenital anaomies of the heart and great vessels. Clinicopathologic study of 132 ases.

An extensively illustrated pathological-anatomical and physiological presentation with an historical approach.

1943 CE

#6357.58

Congenital atresia of the esophagus with tracheo-esophageal fistula. Extrapleural ligation of fistula and end-to-end anastomosis of esophageal segments.

Ablation of the tracheo-oesophageal fistula and primary end-to-end oesophageal anastomosis, first achieved in 1941.

1927 CE

#2856

Congenital cardiac disease by Maude Abbott. IN: Modern medicine: Its theory and practice, edited by Sir William Osler, assisted by Thomas McCrae. 3rd ed., 4, 612-812.

1944 CE

#11859

Congenital cardiac disease: Bibliography of 1000 cases analyzed in Maude Abbott's Atlas. Edited by Donald deF. Bauer and Effie C. Astbury.

Provides all the references used in Abbott, Atlas of congenital cardiac disease. New York: American Heart Association, 1936, but not included in the 1936 work.

1941 CE

#5507

Congenital cataract following German measles in the mother.

Gregg drew attention to congenital defects in infants following rubella in the mother during the early part of pregnancy.

1918 CE

#5757.3

Congenital clefts of the face.

Roberts introduced the push-back procedure - backward displacement of the velum to ensure adequate speech.

1945 CE

#3044

Congenital coarctation of the aorta and its surgical treatment.

Crafoord and Gross (No. 3044.1) pioneered this basic operation in cardiac and pediatric surgery.

1943 CE

#5509

Congenital defects in infants following infectious diseases during pregnancy.

Figures demonstrating that rubella in the first or second month of pregnancy always results in an abnormal infant. With A. L. Tostevin, B. Moore, H. Mayo, and G. H. B. Black.

1982 CE

#12368

Congenital heart disease: Benchmark papers in human physiology.

1965 CE

#11587

Congenital heart disease: Correlation of pathologic anatomy and angiography. 2 vols.

With Lewis Carey and Richard Lester.

1950 CE

#2882

Congenital heart disease.

A new classification proposed.

1947 CE

#2878

Congenital malformations of the heart.

This 618-page work, which required ten years to write, was the first "definitive textbook" of congenital heart defects, a subspecialty of pediatrics that Taussig created. The second edition, published in 1960, was ess…

1917 CE

#4631

Congenital word-blindness.

1863 CE

#4333

Contractur des Metatarsus.

Congenital metatarsus varus described.

1888 CE

#2792

Contribution à l’anatomie pathologique de la maladie bleu (cyanose cardiaque).

The “tetralogy of Fallot.” He gave an important, but not the first, account of this condition (see Nos. 2726.1 & 2761). Abstract translation in Willius & Keys, Cardiac classics, 1941, pp. 689-90.

1880 CE

#4700

Contribution à l’étude de l’idiotàie.

“Bourneville’s disease”, tuberous sclerosis, epiloia (p. 81). Digital facsimile from biuSante.parisdescartes.fr at this link. For the history of the understanding of this disease see the remarkable W…

1955 CE

#3047.7

Controlled cross circulation for direct-vision intracardiac surgery; correction of ventricular septal defects, atrioventricularis communis, and tetralogy of Fallot.

Controlled cross circulation (human heart–lung “machine”) for intracardiac surgery.

1954 CE

#3047.6

Controlled cross circulation for open intracardiac surgery; physiologic studies and results of creation and closure of ventricular septal defects.

Warden and colleagues undertook the first repair of various cardiac anomalies. With M. Cohen, and R.C. Read.

2011 CE

#13571

Correction of the 508del-CFTR protein processing defect in vitro by the investigational drug VX-809.

Negulescu and colleagues published a "proof of concept" experiment showing that the novel molecule called VX-809 could correct in vitro the very common and critical 508del-CFTR mutation identified by Collins. (See GM …

1966 CE

#12369

Creation of an atrial septal defect without thoracotomy. A palliative approach to complete transposition of the great arteries.

Rashkind balloon atrial septostomy to treat transposition of the great vessels.

2021 CE

#13478

CRISPR-Cas9 gene editing for sickle cell disease and ß-thalassemia.

First application of CRISPR gene editing in the successful cure of diseases. Order of authorship in the original publication: Frangoul, Altshuler, Cappellini. (Thanks to Juan Weiss for this reference and its interpret…

1938 CE

#13827

Cystic fibrosis of the pancreas and its relation to celiac disease: A clinical and pathological study.

Andersen was the first to describe the characteristic cystic fibrosis of the pancreas, and to correlate it with the lung and intestinal disease prominent in CF. She also was the first to hypotheize that cystic fibrosi…

1900 CE

#6367

Dark sclerotics and fragilitas ossium.

“Eddowes’s syndrome” – blue sclerotics and fragility of the bones, occurring as a familial syndrome; osteogenesis imperfecta. See also No. 6358.1.

1936 CE

#3659.2

Das Coeliakiesyndrom bei angeborener zysticher Pankreasfibromatose und Bronchiektasien.

Cystic fibrosis (mucoviscidosis) described. With E. Uehlinger and C. Knauer.

1892 CE

#236

Das Keimplasma.

Weismann elaborated the theory of the continuity of the germ plasm. English edition, 1893.