Facets

1900 CE

#239.01

Das Spaltungsgesetz der Bastarde.

De Vries and Correns independently rediscovered and confirmed Mendel’s laws. This is De Vries’s most important paper on the subject. De Vries’s first published paper on the topic is “Sur la loi…

1906 CE

#7733

De l'acrocéphalosyndactylie.

"Apert syndrome", consisting of a triad of disorders: craniosynostosis, syndactyly and maxillary underdevelopment. Digital facsimile from Google Books at this link.

1882 CE

#3127

De l’epithélioma primitif de la rate; hypertrophie idiopathique de la rate sans leucémie.

“Gaucher’s disease” – familial splenic anemia. Digital facsimile from wellcomecollection.org at this link.

1871 CE

#3766.1

De la microcythémie

Vanlair and Masius were the first to suggest the concept of hereditary hemolytic anemia. Their paper was republished in book form, Brussels, 1871.

1831 CE

#4317

De la rétraction des doigts par suite d’une affection de l’aponévrose palmaire, opération chirurgicale qui convient dans ce cas.

Dupuytren devised an operation for the treatment of contracture of the palmar fascia (“Dupuytren’s contracture”). Reprinted, with translation, in Med. Classics, 1939, 4, 127-50. The condition was fir…

1817 CE

#4310

De rachitide congenita.

Classic description of achondroplasia. Romberg’s graduation thesis. English translation (Sydenham Society), 1853.

1896 CE

#3840.1

Deaf-mutism and goitre.

Pendred syndrome, a genetic disorder leading to congenital bilateral (both sides) sensorineural hearing loss and goitre with euthyroid or mild hypothyroidism (decreased thyroid gland function).

1998 CE

#11998

Deciphering the biology of Mycobacterium tuberculosis from the complete genome sequence.

Abstract: "Countless millions of people have died from tuberculosis, a chronic infectious disease caused by the tubercle bacillus. The complete genome sequence of the best-characterized strain of Mycobacterium tubercu…

1896 CE

#4366

Deformities: A treatise on orthopaedic surgery.

Includes a valuable discussion of congenital anomalies of the bones and joints from the orthopedic point of view. Greatly expanded second edition, 2 vols., London, 1912.

1926 CE

#3785

Der Morbus Gaucher und die ihm ähnlichen Erkrankungen. (Die lipoidzellige Splenohepatomegalie Typus Niemann und die diabetische Lipoidzellenhyperplasie der Milz.)

“Niemann-Pick disease” – a group of inherited, severe metabolic disorders, first noted by Albert Niemann in 1914, (No. 3784) in 1914. Pick’s account is of greater importance.

1887 CE

#4093

Dermatitis venenata: An account of the action of external irritants upon the skin.

White, a pupil of Hebra, was an outstanding personality in American dermatology; he held the first chair in that subject in the U.S.A. The eponym “White’s disease” refers to his description of kerato…

1869 CE

#11144

Des difformités congénitales et acquises des doigts et des moyens d’y remédier. Thèse présentée au concours pour l’agrégation (section de chirurgie).

This exceptionally long and comprehensive (246pp., 39 text illustrations) thesis was the first French work on hand surgery. Digital facsimile from Google Books at this link.

1951 CE

#12229

Development of a pump-oxygenator to replace the heart and lungs: An apparatus applicable to human patients, and application to one case.

Dennis and colleagues performed the first human cardiac operation with total heart-lung bypass. The patient was a 6-year old girl with a huge atrial septal defect. Though she did not survive, this report encouraged ot…

1922 CE

#7832

Di un raro caso di osteite simmetrica ereditaria degli arti inferior.

"Camurati-Engelmann disease", a very rare autosomal dominant genetic disorder that causes characteristic anomalies in the skeleton. It is a form of dysplasia. See No. 4395.1.

1974 CE

#12245

Diagnosis of cyanotic congenital heart malformations in infants by real-time, two-dimensional echocardiography.

Two-dimensional (cross-sectional) echocardiography.

1891 CE

#4359

Die angeborene Verschiebung des Schulterblattes nach oben.

Classic description of “Sprengel’s deformity”, a congenital upward displacement of the scapula.

1897 CE

#2806

Die angeborenen Defecte der Kammerscheidewand des Herzens.

“Riding aorta”, patent interventricular septum and right ventricular enlargement – the “Eisenmenger syndrome”.

1898 CE

#11716

Die angeborenen Herzkrankheiten.

The first systematic treatise on congenital heart defects. Digital facsimile from the Internet Archive at this link.

1885 CE

#231

Die Bedeutung der Zellenkerne für die Vorgänge der Vererbung.

Along with Roux, Kölliker stated that hereditary characters were transmitted by the cell nucleus.

1875 CE

#2778

Die Defecte der Scheidewände des Herzens.

Rokitansky’s memoir on defects of the septum of the heart was his last work, and possibly his greatest. It represented 14 years’ study of the subject.

1833 CE

#4320

Die Durchschneidung der Achillessehne, als Heilmethode des Klumpfusses, durch zwei Fälle erläutert.

Successful tenotomy for clubfoot established the reputation of Stromeyer as an orthopedic surgeon.

1890 CE

#3069

Die Gelenkerkrankungen bei Blutern mit Berücksichtigung der Diagnose.

König gave a detailed description of joint involvement in hemophilia.

1937 CE

#12352

Die Geschichte der angeborenen Herzkrankheiten.

A history of congenital heart disease covering cyanosis, foetal endocarditis and various malformations. Bedford 850.

1855 CE

#3063

Die Haemophilie oder die Bluterkrankheit.

First full clinical description of hemophilia.

1901 CE–1903 CE

#240

Die Mutationstheorie. 2 vols.

The theory of mutation was first advanced by de Vries. English translation, 2 vols., Chicago, 1909-10.

1950 CE

#258.1

Die Zeugungs- und Vererbungslehren der Antike und ihr Nachwirken.

A study of the earliest “scientific” theories of heredity and genetics.

1788 CE

#4304.1

Dissertatio medica descriptionem et casus aliquot osteomalaciae sistens.

In his doctoral thesis Ekman gave an account of osteogenesis imperfecta in three generations. For extensive translation see No. 4404.1. K.S. Seedorff, Osteogenesis imperfecta, Copenhagen, 1949.

1744 CE

#215.1

Dissertation physique à l’occasion du nègre blanc.

Stimulated by the much talked about appearance of an albino negro in Paris, Maupertuis expressed theories of biparental heredity and epigenesis which substantially anticipated those of Darwin, Mendel, and De Vries nea…

1976 CE

#2660.28

DNA related to the transforming gene(s) of avian sarcoma viruses is present in normal avian DNA.

Discovery of the first “oncogene. In 1989 Varmus and Bishop shared the Nobel Prize for in Physiology or Medicine "for their discovery of the cellular origin of retroviral oncogenes."

1984 CE

#7428

DNA sequences from the quagga, an extinct member of the horse family.

Probably the first study of DNA isolated from ancient specimens, or ancient DNA (aDNA). By Higuchi, Barbara Bowman, and Mary Freiberger from the Department of Biochemistry, University of California, Berkeley and Ryder…

2008 CE

#13058

DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.

Ley and collaborators decoded all the genes of a person with cancer (acute myeloid leukemia (AML)) and found a set of mutations that might have caused the disease or aided its progression.

1977 CE

#6883

DNA sequencing with chain-terminating inhibitors.

Sanger and colleagues developed methods for rapid sequencing of long sections of DNA molecules. Sanger’s method, and that developed by Gilbert and Maxam, made it possible to read the nucleotide sequence for enti…

1964 CE

#11372

Dominant erbliche Akrocephalosyndaktylie.

Pfeiffer syndrome, a rare genetic disorder characterized by the premature fusion of certain bones of the skull (craniosynostosis) which affects the shape of the head and face. In addition, the syndrome includes abnorm…

1957 CE

#9726

Drug reactions, enzymes and biochemical genetics.

Motulsky clearly stated that inheritance might explain many individual differences in the efficacy of drugs and in the occurence of adverse drug reactions.

1877 CE

#2780

Du rétrécissement mitral pur.

First description of congenital mitral stenosis, “Duroziez’s disease.”

2001 CE

#10335

Dying in the City of the Blues: Sickle cell anemia and the politics of race and health.

"Set in Memphis, home of one of the nation's first sickle cell clinics, Dying in the City of the Blues reveals how the recognition, treatment, social understanding, and symbolism of the disease evolved in the twentiet…

1912 CE

#4385

Dysostose cranio-faciale héréditaire.

First description of cranio-facial dysostosis, hypertelorism (Crouzon's syndrome).

1929 CE

#4395.1

Ein Fall von Osteopathia hyperostotica (sclerotisans) multiplex infantilis.

“Engelmann’s disease”, also known as "Camurati-Engelmann disease" — a very rare autosomal dominant genetic disorder that causes characteristic anomalies in the skeleton. It is a form of dysplas…

1879 CE

#4346.1

Ein Fall von sogenannter Myositis ossificans progressiver.

Helferich described the association of microdactyly with myositis ossificans progressiva.

1911 CE

#3536

Ein operativ geheilter Fall von kongenitaler Dünndarmatresie.

Treatment of congenital atresia of ileum by lateral anastomosis.

1914 CE

#3784

Ein unbekanntes Krankheitsbild.

First description of that form of xanthomatosis which Pick described more fully in 1926 (No. 3785) and to which the eponym “Niemann-Pick disease” has been applied.

1909 CE

#6844

Elemente der exacten Erblichkeitslehre.

In this work Johannsen coined the term “gene” as the “underlying structure in the organism, that which was transmitted during hybridzation.” He also coined the term "phenotype" to express what …

1904 CE

#3132.1

Elliptical human red cell corpuscles.

Hereditary elliptocytosis.

1671 CE–1672 CE

#2726.1

Embryo monstro affinis Parisiis dissectus.

First known description of the “tetralogy of Fallot” (see No. 2792). Reprinted in his Opera philosophica, ed. W. Maar, Vol. 2, Copenhagen, V. Tryde, 1910, pp. 49-53. For translation see Proc. Mayo Clin., 1…

1985 CE

#10785

Enzymatic amplication of B-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia.

Polymerase chain reaction first published. With Randall K. Saiki, Stephen Scharf, Fred Faloona et al. Order of authorship in the original paper was Saiki, Scharf, Faloona, Mullis.... In 1993 the Nobel Prize in Chemist…

1896 CE

#2710

Epistaxis répété chez un sujet porteur de petits angiomes cutanés et muqueux.

Rendu’s account of multiple hereditary telangiectasis (“Rendu–Osler–Weber disease”).

1924 CE

#907.1

Ergebniss einer biostatischen zusammenfassenden Betrachtung über die erblichen Blutstrukturen des Menschen.

Bernstein, a mathematician, determined the correct blood group inheritance pattern of multiple alleles at one locus through statistical analysis.

1904 CE

#242.2

Ergebnisse über die Konstitution der chromatischen Substanz des Zellkerns.

See No. 242.1.

1932 CE

#14087

Erythroblastosis fetalis and its association with universal edema of the fetus, icterus gravis neonatorum and anemia of the newborn.

The authors described and named this syndrome/illness of newborns for the first time, including pathological findings, clinical data, lab abnormalities, presentation and course of illness. Order of authorship in the o…

1959 CE

#4962.5

Étude des chromosomes somatiques de neuf enfants mongoliens.

Discovery of trisomy-21, cause of Down’s syndrome. With M. Gautier and R. Turpin.