Facets

1936 CE

#2576.4

Immunogenetic studies of species and of species hybrids in doves, and the separation of species-specific substances in the backcross.

Irwin coined the term, “immunogenetics” to describe the union of immunology with genetics. He attempted to determine the genetic control of antigenicity through genetic cross matings.

1985 CE

#10319

In the name of eugenics: Genetics and the uses of human heredity.

2021 CE

#14218

In vivo base editing rescues Hutchinson-Gilford progeria syndrome in mice.

Using the base editor enzyme developed by Liu (GM11865), the authors report that they can “correct the pathogenic HGPS mutation in cultured fibroblasts derived from children with progeria and in a mouse model of…

1909 CE

#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…

1953 CE

#14072

Induction of instability at selected loci in maize.

McClintock (Nobel Prize 1983) discovered transposable elements or jumping genes. She found that certain parts of chromosome had switched position. This refuted the then-popular theory that genes were fixed in their po…

1958 CE

#12971

Influence of light on the hyperbilirubinaemia of infants.

In 1956 Sister Jean Ward of the Premature Unit of the Rochford General Hospital in Essex, England noted the benefit of phototherapy when she took infants outside because she assumed that fresh air had healing benefits…

1933 CE

#4008

Inherited abnormalities of the skin and its appendages.

2001 CE

#6891

Initial sequencing and analysis of the human genome.

Initial draft sequence of the human genome from the publically financed project, involving the coordinated efforts of 20 laboratories and hundreds of people around the world. The full text is available from Nature at …

1883 CE

#230

Inquiries into human faculty and its development.

Galton, cousin of Charles Darwin, founded the science of Eugenics. In his important Inquiries he showed mathematically “the results of his experiments on the relations between the powers of visual imagery and of…

1967 CE

#6235.2

Intrauterine diagnosis and management of genetic defects.

Amniocentesis used to diagnose genetic disorders in utero. First detailed report. See also Fuchs, F., Genetic information from amniotic fluid contents. Lancet, 1960, 2, 180. "During the course of the criminal investig…

1969 CE

#13971

Isolation of pure lac operon DNA.

Order of authorship in the original publication: Shapiro, MacHattie, Eron, Ihler, Ippen, Beckwith. Beckwith led the research group that in 1969 isolated the first gene from an organism, specifically a gene from a bact…

1861 CE

#4693

Klinik der Leberkrankheiten. Bd. 2.

Pp. 62-64: First description of progressive familial hepatolenticular degeneration (“Kinnier Wilson’s disease”; see No. 4717).

1894 CE

#10595

Klinische Abbildungen: Sammlung von Darstellungen der Veränderung der äusseren Körperform bei inneren Krankheiten.

Includes 57 fine heliogravure reproductions of artistic photographs of disease, including numerous congenital deformities. Digital facsimile from Google Books at this link.

1909 CE

#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.

1965 CE

#258.8

Kurze Geschichte der Genetik bis zur Wiederentdeckung der Vererbungsregeln Gregor Mendels. Zweite Ausgabe.

Revised and enlarged English translation, Cambridge, Mass., Massachusetts Institute of Technology Press,1972.

1960 CE

#13995

L'opéron: Groupe de gènes à expression coordonnée par un opérateur.

Jacob and Monod received their share of the Nobel Prize in 1965 for their discoveries concerning the operon and viral synthesis. The first operon they described was the lac operon in E. coli. Their operon theory sugge…

1958 CE

#7401

L’Hérédité en ophtalmologie.

English translation St. Louis: C.V. Mosby, 1961.

1937 CE

#11568

La angio-cardiografía radio-opaca.

Intravenous angiocardiography. This was the first publication that dealt with the normal cardiac structure and the changes seen in ventricular septal defect and pulmonary stenosis.

1886 CE

#2393

La syphilis héréditaire tardive.

Fournier, one of the greatest syphilologists, did more than any other person to develop the knowledge regarding congenital syphilis. Through his writings, the importance of syphilis as a cause of degenerative diseases…

1921 CE

#10196

Le bactériophage: Son rôle dans l'immunité.

D'Hérrelle cited several actual reports of successful treatment of bacterial infections by the injection of bacteriophages in animals and humans. These may be considered early attempts at direct gene transfer i…

1899 CE

#4129

Le trophoedème chronique héréditaire.

“Meige’s disease” – first described by Nonne (No. 4106).

1819 CE

#11240

Lectures on physiology, zoology and the natural history of man.

This work set forth Lawrence's then radical and remarkably advanced ideas concerning evolution and heredity. Arguing that theology and metaphysics had no place in science, Lawrence relied instead on empirical evidence…

1883 CE–1884 CE

#2229

Lehrbuch der speciellen Pathologie und Therapie der inneren Krankheiten. 2 vols.

Strümpell gave an excellent description of ankylosing spondylitis (“Strümpell’s disease”, the “spondylose rhizomélique” of Pierre Marie, No. 4368) on p. 152 of his Lehrbu…

1959 CE

#7402

Les cataractes congénitales.

1904 CE

#4375

Les scolioses congénitales.

First description of platyspondylia.

1519 CE

#3048

Liber theoricae nec non practicae Alsaharavii.

This is the first printing of the medical and therapeutic section of Abul Qasim’s medical encyclopedia or al-Tasrif. It contains what is probably the earliest description of hemophilia (fol. 145). Digital facsim…

1859 CE

#3913

Lieber das Alcapton; ein neuer Beitrag zur Frage: welche Stoffe des Harns können Kupferreduction bewirken?

Excretion of homogentisic acid (in alkaptonuria) first described.

1907 CE

#3025.3

Ligation of the ductus arteriosus.

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

1990 CE

#13966

Linkage of early-onset familial breast cancer to Chromosome 17q21.

King showed that breast cancer can be inherited due to mutations in the Breast cancer type 1 susceptibility protein, a protein that in humans is encoded by the BRAC1 gene. BRCA1 is a human tumor suppressor gene (also …

1994 CE

#14016

Location of a breast cancer susceptibility gene, BRACA2, to chromosome 13q12-13.

Stratton and colleagues discovered the BRCA2 gene. Oder of authorship in the original publication: Wooster, Neuhausen, Mangion....Stratton. (Thanks to Juan Weiss for this reference and its interpretation.)

1950 CE

#13525

Lysogenicity in Escherichia coli strain K-12.

Discovery of phage λ (lambda phage). According to estherlederberg.com, only about 100 people received the first issue of Microbial Genetics Bulletin, a typed and mimeographed publication. Digital facsimile from…

1952 CE

#13941

Mammalian chromosomes in vitro I: The karyotype of man.

Since the turn of the twentieth century, chromosomes prepared on microscope slides formed clumps that made it extremely difficult to distinguish them. Although the preparations made the identification of individual ch…

1966 CE

#3155.4

Man’s haemoglobins: including the haemoglobinopathies and their investigation.

Explains the current distribution of sickling throughout the world.

1894 CE

#237

Materials for the study of variation treated with especial regard to discontinuity in the origin of species.

Bateson was convinced that discontinuity was the more important type of variation among animals and plants “in some unknown way a part of their nature and not directly dependent upon natural selection at all&rdq…

1920 CE

#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…

1936 CE

#3148.1

Mediterranean disease – thalassemia (erythroblastic anemia of Cooley); associated pigment abnormalities simulating hemochromatosis.

Whipple and Bradford contributed a classic paper on the pathology of thalassemia, a name introduced by them.

1884 CE

#13063

Memoir upon the formation of a deaf variety of the human race.

Bell determined that deafness was an inheritable trait and that deaf individuals had a tendency to marry other deaf individuals. As a eugenicist Bell considered this a problem because he thought it risked the developm…

1803 CE

#4308

Memoria chirurgica sui piedi torti congenita dei fanciulli.

First accurate description of the pathological anatomy of congenital club-foot. English translation, Edinburgh, 1818.

1902 CE

#241

Mendel’s principles of heredity: A defence.

The first book on Mendelism in English, and the first English textbook of genetics. It contains a reprint of the first English translation of Mendel’s “Versuch über Pflanzen-Hybriden” from the J…

1966 CE

#14202

Mendelian inheritance in man; catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes.

Last expanded printed edition: 12th edition, 3 vols., 1998. "Dr Victor A. McKusick wrote an article in 1962 for the Quarterly Review of Biology titled ‘On the X Chromosome of Man’ (1). At that time, X-link…

1908 CE

#243

Mendelian proportions in a mixed population.

Hardy–Weinberg equilibrium.

1831 CE

#6358.1

Merkwürdige Fragilität der Knochen ohne dyskrasische Ursache als krankhafte Eigenthümlichkeit dreier Geschwister.

Axmann of Wertheim described osteogenesis imperfecta occurring in himself and his two brothers. He referred to the occurrence of articular dislocations and blue sclerotics. See also No. 6367.

1983 CE

#13975

Metallothionein - human GH fusion genes stimulate growth of mice.

Brinster and Palmiter created the first "transgenic" animals, transferring non-native genes into mice through genetic engineering techniques. The cover of the issue of Science magazine in which this paper was publishe…

1827 CE

#14199

Méthode nouvelle pour le traitement des déviations de la colonne vertébrale; précédée d'un examen critique des divers moyens employés par les orthopédistes modernes.

Digital facsimile from Google Books at this link.

1987 CE

#7256

Mitochondrial DNA and human evolution.

Cann's discovery that all living humans are genetically descended from a single African mother, known as Mitochrondrial Eve, who lived <200,000 years ago, became the foundation of the Out of Africa theory, the most wi…

1959 CE

#9727

Moderne problem der humangenetik.

In this paper Vogel coined the term pharmacogenetics, as the study of the role of genetics in drug response.

1981 CE

#9175

Molecular cloning of poliovirus cDNA and determination of the complete nucleotide sequence of the viral genome.

The poliovirus genome. Digital facsimile from PNAS through PubMedCentral at this link.

1968 CE

#6916

Molecular pathology of human haemoglobin.

Perutz opened up "the field of 'molecular pathology,' relating a structural abnormality to a disease" (Aaron Klug, "Max Perutz 1914-2002," Science 295 ([2002] 2383). Specifically Perutz showed that hemoglobin molecule…

1994 CE

#9718

Molecular politics: Developing American and British regulatory policy for genetic engineering, 1972-1982.

1928 CE

#4958

Mongolism. A study of the physical and mental characteristics of mongolian imbeciles. Revised by H. G. Brainerd.

Down syndrome.