Facets

1876 CE

#4744

Tonische Krämpfe in willkürlich beweglichen Muskeln in Folge von ererbter psychischer Disposition (Ataxia muscularis?).

Thomsen suffered from muscle weakness and cramps, an issue that all his sons inherited. Realizing that this was a hereditary disease, Thomsen managed to trace the disease for six generations, and found over 20 cases o…

1829 CE–1833 CE

#2288

Traité d’anatomie pathologique. 2 vols. and atlas.

Includes a historical review of the subject from the time of the Ancient Egyptians to Corvisart, and a summary of the advances in pathology during the preceding 50 years. Vol. 2, pp. 553-600 deals with diseases of the…

1810 CE

#2378.1

Traité de la maladie vénérienne chez les enfans nouveau-nés, les femmes enceintes et les nourrices.

The first systematic work on congenital syphilis.

1854 CE

#2383

Traité de la syphilis des nouveau-nés et des enfants à la mamelle.

An important work on congenital syphilis. English translation, 1859.

1857 CE

#4933.1

Traité des dégénérescences physiques, intellectuelles et morales de l’espèce humaine. 1 vol. and atlas.

The main support for the theory of mental illness as regression which dominated psychiatric practice for several decades. Morel described and illustrated the nature, causes, and signs of human degeneration. He focused…

1898 CE

#10269

Traité des maladies chirurgicales d'origine congénitale.

The first book entirely devoted to the surgical treatment of congenital abnormalities. The work also contains pp. 593-698 an exposition of Kirmisson's staged reduction of congenital dislocations of the hip, and discus…

1921 CE

#11677

Traité des maladies congenitales du coeur.

1733 CE

#3422

Two examples of children born with preternatural conformations of the guts.

First description of congenital atresia of the ileum.

1926 CE

#4609

Über das morphologische Wesen und die Histopathologie der hereditaersystematischen Nervenkrankheiten.

Schaffer was a pioneer Hungarian neuropathologist. He laid down a triad of criteria for judging whether or not a neurological disease is hereditary.

1904 CE

#14271

Über eine sehr seltene Erkrankung der Netzhaut. Klinische Beobachtungen.

First description of angiomas in the eye (retinal hemangioblastomas), (Von Hippel-Lindau disease) (VHL). Von Hippel was preceded in his description of this disease by Edward Treacher Collins, "Two cases, brother and s…

1900 CE

#239.2

Über künstliche Kreuzung von Pisum sativum.

With Correns and de Vries, Tschermak brought Mendel’s work into prominence and confirmed it, although Tschermak may not have fully understood the Mendelian laws before he had read Mendel’s work. See also T…

1903 CE

#241.1

Über mehrpolige Mitosen als Mittel zur Analyse des Zellkerns.

Boveri’s experiments, involving multipolar mitoses in sea urchin eggs fertilized by two sperm, demonstrated that different chromosomes perform different functions in development. English translation in No. 534.3.

1937 CE

#6374

Über rezidivierende, aphthöse, durch ein Virus verursachte Geschwüre am Mund, am Auge und an den Genitalien.

Behçet’s disease, previously described by H. Planner and F. Remenovsky, Arch. Derm. Syph. (Berlin), 1922, 140, 162-88.

1908 CE

#244

Überden Nachweis der Vererbung beim Menschen.

Weinberg, a general practitioner and obstetrician in Stuttgart, was also a founder of population genetics. He co-discovered the Hardy–Weinberg equilibrium.

1883 CE

#229

Überdie Bedeutungder Kerntheilungsfiguren.

Roux investigated why the nucleus undergoes the precise division of mitosis while the rest of the cell undergoes a rather crude division when one cell splits into two. He argued that mitosis ensures a precise halving …

1882 CE

#4081

Ueber akutes umschriebenes Hautödem.

Hereditary angioedema is also known as Quincke’s edema, from the latter’s excellent description of it, but he was preceded by several other writers, including Donati (No. 4011.2) and Milton (No. 4070). It …

1931 CE

#6372.1

Ueber Arachnodaktylie (Dystrophia mesodermalis congenita, Typus Marfan).

Weve of Utrecht first clearly demonstrated the heritable nature of the Marfan syndrome (see No. 4365.1).

1868 CE

#4056.1

Ueber Cataracten in Verbindung mit einer eigenthümlichen Haut-de-generation.

Poikiloderma congenitale (Rothmund).

1863 CE

#4696

Ueber degenerative Atrophie der spinalen Hinterstränge.

Friedreich was the first to describe a form of ataxia (“Friedreich’s ataxia”), hereditary, attended with impairment of speech, lateral curvature of the spine, and with paralysis of the muscles of the…

1895 CE

#4428

Ueber den Gang bei angeborener Hüftgelenksluxation.

“Trendelenburg’s sign” of congenital dislocation of the hip-joint.

1908 CE

#3080.1

Ueber den habituellen Ikterus de Neugeborenen.

First detailed description of familial icterus gravis neonatorum.

1935 CE

#254.1

Ueber die Natur der Genmutation und der Genstruktur.

This paper is divided into four sections. The first, by Timofeev-Ressovskij, describes the mutagenic effects of x-rays and gamma rays on Drosophila melanogaster; the second part, by Zimmer, analyzes Timofeev-Ressovski…

1895 CE

#3918

Ueber die Pentosurie, eine neue Anomalie des Stoffwechsels.

Pentosuria first described.

1886 CE

#4704

Ueber eine bestimmte Form der primären combinirten Systemerkrankungen des Rückenmarks.

“Strümpell’s disease” – hereditary spastic spinal paralysis, previously described by Erb and by Charcot.

1908 CE

#4377

Ueber eine häufige, bisher anscheinend unbekannte Erkrankung einzelner kindlicher Knochen.

“Köhler’s disease” of the scaphoid bone of the foot in children. See No. 4387.

1897 CE

#4367

Ueber eine seltene Form von Erkrankung der Knochen und Gelenke.

“Bruck’s disease” – deformity of bones, multiple fractures, ankylosis of joints, and muscular atrophy.

1866 CE

#2764.1

Ueber einen sehr seltenen Fall von Insufficienz der Valvula tricuspidalis, bedingt durch eine angeborene hochgradige Missbildung derselben.

“Ebstein’s anomaly,” a congenital abnormality of the tricuspid valve. Translation in Amer. J. Cardiol, 1968, 22, 867-72.

1919 CE

#6371.2

Ueber einen Typ multipier Abartungen, vorwiegend am Sklettsystem.

Hurler syndrome (lipochondrodystrophy, gargoylism), earlier described by Hunter (No. 6371.1).

1852 CE

#2904

Ueber einige der wichtigsen Krankheiten der Arterien.

One of Rokitansky’s best works. He described atheroma and calcification in the intima of arteries, and various congenital malformations. Rokitansky "is credited with the initial case report of polyarteritis nodo…

1903 CE

#242

Ueber Erblichkeit in Populationen und in reinen Linien.

More support for the Mendelian law of inheritance was provided by Johannsen, a Danish botanist, who showed that in certain self-fertilizing plants a pure line of descendants can be maintained indefinitely, in which ca…

1889 CE

#3916

Ueber Haemochromatose.

Recklinghausen gave to hemochromatosis its present name.

1870 CE

#4339

Ueber hereditäre Knochensyphilis bei jungen Kindern.

“Wegner’s disease” – osteochondritic separation of the epiphyses in congenital syphilis.

1871 CE

#5906

Ueber hereditäre und congenital-angelegte Sehnervenleiden.

First description of hereditary optic atrophy, “Leber’s optic atrophy”.

1906 CE

#4376.1

Ueber Osteogenesis imperfecta tarda.

Looser’s syndrome.

1910 CE

#898

Ueber Vererbung gruppenspezifischer Strukturen des Blutes.

Proof that blood groups are inherited according to Mendelian laws.

1912 CE

#4386

Un cas d’absence des vertèbres cervicales avec cage thoracique remontant jusqu’à la base du crâne (cage thoracique cervicale).

“Klippel–Feil syndrome” – absence or incomplete development of cervical vertebrae. English translation in Bick, Classics of orthopaedics, 511-16.

1896 CE

#4365.1

Un cas de déformation congénitale des quatre membres, plus prononcée aux extrémités, charactérisée par l’allongement des os avec un certain degré d’amincissement.

“Marfan syndrome”. Marfan described only the skeletal deformities. He called the condition dolichostenomelia. Later writers recorded bilateral ectopia lentis and cardiovascular complications in this syndrome.

1921 CE

#4388.1

Une maladie congénitale et héréditaire de l’ossification: la pléonostéose familiale.

“Léri’s pleonosteosis” first described.

1892 CE

#4361

Untersuchungen über die sogenannte foetale Rachitis (Chondrodystrophia foetalis).

First study of the cartilage changes in achondroplasia.

1934 CE

#3924

Utskillelse av fenylpyrodruesyre i urinen som stoffskifteanomali i forbindelse med imbecilletet.

Phenylketonuria (PKU) first described. This was the first hereditary metabolic disorder shown to be responsible for mental retardation. German translation in Hoppe-Seyl. Z. physiol. Chem., 1934, 227, 169-76. English t…

1745 CE

#215.2

Vénus physique, contenant deux dissertations, l’une, sur l’origine des hommes et des animaux, et l’autre, sur l’origine des noirs.

English translation, The earthly Venus, was published in New York, 1966. Includes a reprint of No. 215.1.

1866 CE

#222

Versuche über Pflanzen-Hybriden.

Discovery of the Mendelian ratios, the most significant single achievement in the history of genetics. The story of how Mendel published his paper in this relatively obscure journal only to have his discovery ignored …

1553 CE

#2369

Von der frantzösischen kranckheit drey Bücher.

Paracelsus suggested the hereditary transmission of syphilis and advocated mercury internally, as an antisyphilitic. He called the disease “French gonorrhoea” and thus started the confusion which lasted un…

1792 CE

#6358

Von Menschen ohne Haare und Zähne.

Hereditary ectodermal dysplasia first described. Digital facsimile from Google Books at this link.

2018 CE

#10145

Who we are and how we got here: Ancient DNA and the new science of the human past.

2016 CE

#11409

Whole-genome characterization and strain comparison of VT2f-producing Escherichia coli causing hemolytic uremic syndrome.

Order of authorship in the original publication: Grande, Michelacci, Bondi.... Demonstration that a phage infecting E. coli conveys the genes into the E. coli that code for the production of the verotoxin that causes …

1995 CE

#11343

Whole-genome random sequencing and assembly of Haemophilus influenzae Rd.

First sequence of the complete genome of a free-living non-viral organism—Haemophilus influenzae—the bacterium that causes lower respiratory tract infections and meningitis in infants and young children. T…

1888 CE

#231.1

Zellen-Studien.

Boveri gave decisive proof of the maintenance of chromosomal individuality.

1927 CE

#14272

Zur Frage der Angiomatosis Retinae und Ihrer Hirncomplikation.

Lindau described the angiomas of the cerebellum and spine found in Von Hippel-Lindau disease (VHL).

1914 CE

#7759

Zur Frage der Entstehung maligner Tumoren.

Boveri argued that malignancy arises as a consequence of chromosomal abnormalities, and that multiplication is an inherent property of cells. He predicted the existence of tumor suppressor mechanisms and was perhaps t…