Facets

1902 –1910

#13048

Reports to the evolution committee of the Royal Society. Reports I-V. 1902-1909.

In 1908 Archibald Garrod delivered the Croonian Lectures at the Royal College of Physicians in London on inborn errors of metabolism. In his studies of the rare disease alkaptonuria, which affects about one in one mil…

1903

#2814

Sur la lésion dite sténose congénitale de l’aorte dans la région de l’isthme.

Distinction of infantile and adult types of coarctation of the aorta.

1903

#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.

1903

#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…

1903

#242.1

The chromosomes in heredity.

Sutton advanced the theory that Mendel’s factors were hereditary particles borne by the chromosomes and that Mendel’s laws for his factors were the direct result of the behaviour of chromosomes in meiosis. Boveri inde…

1904

#3132.1

Elliptical human red cell corpuscles.

Hereditary elliptocytosis.

1904

#4375

Les scolioses congénitales.

First description of platyspondylia.

1904

#242.2

Ergebnisse über die Konstitution der chromatischen Substanz des Zellkerns.

See No. 242.1.

1904

#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…

1905

#4375.1

On the means of lengthening in the lower limbs, the muscles and tissues which are shortened through deformity.

First attempt at surgical lengthening of limbs.

1906

#4376.1

Ueber Osteogenesis imperfecta tarda.

Looser’s syndrome.

1906

#242.3

Further experiments on inheritance in sweet peas and stocks; preliminary account.

W. Bateson, E. R. Saunders and R. C. Punnett noted the phenomena of linkage of genes.

1906

#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.

1907

#1709

Probability: The foundation of eugenics.

1907 –1908

#2633

A study of heredity in relation to the development of tumours in mice.

First experimental study of the heredity of mouse cancer.

1907

#2714

Multiple hereditary developmental angiomata (telangiectases) of the skin and mucous membranes associated with recurring haemorrhages.

“Rendu–Osler–Weber disease.”

1907

#3025.3

Ligation of the ductus arteriosus.

Munro was first to suggest the feasibility of ligation of a patent ductus arteriosus.

1907

#7226

The dancing mouse: A study in animal behavior.

The first work to examine the characteristics of deaf mice, which became the most important model for the study of genetic deafness. Digital facsimile from the Biodiversity Heritage Library, Internet Archive at this l…

1908

#3080.1

Ueber den habituellen Ikterus de Neugeborenen.

First detailed description of familial icterus gravis neonatorum.

1908

#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.

1908

#243

Mendelian proportions in a mixed population.

Hardy–Weinberg equilibrium.

1908

#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.

1909

#244.1

Inborn errors of metabolism.

Garrod established chemical individuality as a paradigm of Mendelian variation. His study, which he began around the turn of the 20th century, coincided with the rediscovery of Mendel's laws of inheritance in 1900. He…

1909

#245

Kreuzungsuntersuchungen an Hafer und Weizen.

The “multiple factor” theory advanced by Nilsson-Ehle brought under the Mendelian law cases which, by their extreme variability of inheritance, might be considered exceptions to it.

1909

#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 is actually observed and…

1910

#898

Ueber Vererbung gruppenspezifischer Strukturen des Blutes.

Proof that blood groups are inherited according to Mendelian laws.

1910

#3133

Peculiar elongated and sickle-shaped red blood corpuscles in a case of severe anemia.

Identification of the sickle-cell type of anemia. Abstract "This case is reported because of the unusual blood findings, no duplicate of which I have ever seen described. Whether the blood picture represents merely a …

1910

#245.1

A Mendelian interpretation of variation that is apparently continuous.

East published simultaneously and independently a theory essentially identical to Nilsson-Ehle (No. 245).

1910

#245.2

Sex-limited inheritance in Drosophila.

Morgan demonstrated sex-limited inheritance. In 1933 Morgan was awarded the Nobel Prize in Physology or Medicine "for discoveries elucidating the role that the chromosome plays in heredity." See also Nos. 245.3, 246, …

1911

#4822

A first study of inheritance of epilepsy.

Davenport and Weeks produced strong evidence in support of the hereditary origin of epilepsy.

1911

#3081

Haemophilia.

Bulloch and Fildes, in their detailed account of hemophilia, claimed to have established immunity to the disease in females, and denied the authenticity of published cases of female hemophilia. They confirmed the law …

1911

#3536

Ein operativ geheilter Fall von kongenitaler Dünndarmatresie.

Treatment of congenital atresia of ileum by lateral anastomosis.

1911

#245.3

Random segregation versus coupling in Mendelian inheritance.

Morgan proposed that what he called Mendelian factors (genes) are arranged in a linear series on chromosomes and that the degree of linkage between two genes on the same chromosome depends upon the distance between th…

1912

#3539

Zur Operation der angeborenen Pylorusstenose.

The first pyloromyotomy for pyloric stenosis, incising the pyloric muscle while leaving the mucosa intact and leaving the muscle to heal: “Rammstedt’s operation.” In 1920 Rammstedt discovered that the family name had …

1912

#4385

Dysostose cranio-faciale héréditaire.

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

1912

#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.

1912

#11535

The Kallikak family: A study in the heredity of feeble-mindedness.

When this book was published Goddard was Director of the Research Laboratory of the Training School at Vineland, New Jersey, for Feeble-minded Girls and Boys. Though this work drew wide attention to the problems of pe…

1913

#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.

1913

#245.4

The linear arrangement of six sex-linked factors in Drosophila, as shown by their mode of association.

Proof that the genes are arranged in a linear sequence along the chromosome. Sturtevant determined the relative positions of six genetic factors on a fly’s chromosome by creating a process called gene mapping. The wor…

1913

#245.5

Non-disjunction of the sex chromosome of Drosophila.

Bridges discovered non-disjunction, failure of chromosome pairs to segregate regularly during meiosis.

1913

#9443

Heredity with reference to carcinoma: As shown by the study of the cases examined in the pathological laboratory of the University of Michigan, 1895-1913.

"In 1895, a young seamstress of his [Warthin's] acquaintance told him about her family's long history of cancer deaths.[6] Intrigued, he researched her family's history, searching death records and administering quest…

1914

#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.

1914

#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…

1915

#246

The mechanism of Mendelian heredity.

Summarizes the major early findings of Morgan’s Drosophila research group, which based its research on the rapidly reproducing small vinegar fly, Drosophila melanogaster, often called the fruit fly. This epoch-making …

1917

#4631

Congenital word-blindness.

1918

#5757.3

Congenital clefts of the face.

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

1918

#248

The correlation between relatives on the supposition of Mendelian inheritance.

"Fisher put forward a genetics conceptual model that shows that continuous variation amongst phenotypic traits could be the result of Mendelian inheritance. The paper also contains the first use of the statistical ter…

1919

#6371.2

Ueber einen Typ multipier Abartungen, vorwiegend am Sklettsystem.

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

1919

#13915

The physical basis of heredity.

In this book Morgan first used the word gene. Previously he had used the term "Mendelian unit" or "factor." On the basis of genetic analysis Morgan presented a number of characteristics of genes: 1. A gene could have …

1920

#529

Mechanismus und Physiologie der Geschlechtsbestimmung.

Translated into English William J. Dakin as The Mechanism and Physiology of Sex Determination (London: Methuen & Co., 1923). Digital facsimile of the 1920 edition from Google Books at this link. Digital facsimile of t…