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37 entries match Immunology & Dermatology [C19 / C20 / C17] · Genetics & Heredity [K01.900.300]

1614

#3789

Observationum in hominis affectibus plerisque, corpori & animo, functionum laesione, dolore, aliave molestia & vitio incommodantibus, libri tres.

First known report of a case of death from hypertrophy of the thymus, in an infant, is reported on p. 172; it is reproduced on p. 239 of J. Ruhräh’s Pediatrics of the past, New York, 1925. Platter first described flex…

1698

#3166

A treatise of the asthma.

Floyer provided the first clear descriptions of cases of bronchial asthma. Floyer himself suffered from asthma for over 30 years. He recognized the influence of heredity in asthma. The above includes (p. 239) an impor…

1731

#4013

An extract from the minutes of the Royal Society, March 16, 1731, containing an uncommon case of a distempered skin.

First known description of Ichthyosis hystrix, a group of rare skin disorders in the ichthyosis family of skin disorders characterized by massive hyperkeratosis with an appearance like spiny scales. Digital facsimile …

1784

#2734.4

A treatise on the diseases of children.

Underwood laid the foundation of modern pediatrics. His work was superior to anything that had previously appeared and remained the most important book on the subject for sixty years, passing through many editions. Th…

1792

#6358

Von Menschen ohne Haare und Zähne.

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

1822 –1823

#3912

Account of a singular variety of urine, which turned black soon after being discharged; with some particulars respecting its chemical properties.

Alkaptonuria described.

1832

#3990.1

Monographie des dermatoses.

This includes the first published illustration of Alibert’s famous “family tree” for the classification of skin diseases, a concept which Alibert borrowed freely from Torti (No. 5231). This classification was never wi…

1846 –1848

#3912.1

Several specimens of cystine exhibited, with the particulars of two cases in which this deposit occurred in the urine.

Cystinuria described.

1859

#3913

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

Excretion of homogentisic acid (in alkaptonuria) first described.

1860

#3459.1

A practical treatise on the aetiology, pathology, and treatment of the congenital malformations of the rectum and anus.

The first systematic treatise on the subject, and a landmark in pediatric surgery. Includes an early account of colostomy and one of the earliest histories of that procedure. Digital facsimile from the Hathi Trust at …

1865

#3915

Glycosurie, diabète sucré. In his Clinique médicale de l’Hôtel-Dieu, 2me. éd., 2, 663-98.

First description of hemochromatosis.

1868

#4056.1

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

Poikiloderma congenitale (Rothmund).

1878

#4075.1

On the treatment of psoriasis by an ointment of chrysophanic acid.

Introduction of chrysarobin in dermatology.

1880 –1882

#11153

Recherches sur les difformités congénitales chez les monstres, le foetus et l'enfant.

Published as Vol. 1 of Oeuvres de Docteur Jules Guerin, of which this work was all published. Digital facsimile from Google Books at this link.

1886

#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.

1887

#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 keratosis follicularis i…

1895

#3918

Ueber die Pentosurie, eine neue Anomalie des Stoffwechsels.

Pentosuria first described.

1896

#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).

1897

#3792

On a condition of mixed premature and immature development.

Hastings Gilford gave progeria its name; it was first fully reported by him in Practitioner, 1904, 73, 188-217. Digital facsimile of the 1897 paper from PubMedCentral at this link.

1901

#2711

On a family form of recurring epistaxis, associated with multiple telangiectases of the skin and mucous membranes.

“Rendu–Osler–Weber disease.” Multiple hereditary telangiectasis was first described by Legg (No. 2707) in 1876 and later by Rendu (No. 2710) and Weber (No. 2714). Reprinted in Medical Classics, 1939, 4, 243-53.

1901

#3866

A study of congenital sarcoma of the liver and suprarenal. With report of a case.

Pepper’s type of adrenal medullary tumor.

1907

#2714

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

“Rendu–Osler–Weber disease.”

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…

1921

#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 in vivo …

1923

#7407

The elephant man and other reminiscences.

The story of Treves's patient, Joseph Carey Merrick (1862-1890), incorrected identified by Treves in these reminiscences as "John Merrick." The story was retold in The elephant man, Bernard Pomerance's 1977 play about…

1924

#2573.1

The genetics of tissue transplantation in mammals.

Little established that the homograft reaction was due to genetic differences between donor and recipient.

1926

#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.

1929

#4397

Sur une forme de dystrophie osseuse familiale.

“Morquio’s disease”, eccentro-osteochondrodysplasia.

1933

#4008

Inherited abnormalities of the skin and its appendages.

1936

#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.

1937

#2576.5

The genetic and antigenic basis of tumour transplantation.

Gorer made the initial discoveries which formed the basis of transplantation genetics. He studied mouse blood groups and described an antigen in erythrocytes (antigen II). His studies established the laws of transplan…

1946

#3924.2

Heredopathia atactica polyneuritiformis; a familial syndrome not hitherto described.

“Refsum’s syndrome”, an inherited disorder of lipid metabolism.

1951

#4154.4

A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair with congenital deafness.

“Waardenburg’s syndrome”.

1952

#2578.9

Agammaglobulinemia.

First report.

1958

#2578.30

Histocompatibility genes of the mouse.

Snell made fundamental contributions to transplantation genetics. At his suggestion genes governing transplantation were called histocompatibility genes and Gorer’s Antigen II became Histocompatibility-2 (H-2). In 198…

1963

#3924.4

A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants.

Bacterial inhibition test for phenylketonuria.

1965

#4154.8

Genetic classification of ichthyosis.

Sex-linked recessive ichthyosis shown to be an important but not uncommon entity. See also Kerr & Wells: Sex-linked ichthyosis. Ann. hum. Genet., 1965, 29, 33-50.