Down syndrome—a disruption of homeostasis

The Stress of Life

1956 • 5,480 citations

CANALIZATION OF DEVELOPMENT AND THE INHERITANCE OF ACQUIRED CHARACTERS

1942 • 3,059 citations

The wisdom of the body

1932 • 2,825 citations

Genetical studies on the skeleton of the mouse

1954 • 560 citations

The Changing Dentition of Man

1945 • 458 citations

Studies of the Mammalian Dentition.–Differentiation of the Post‐canine Dentition

1939 • 405 citations

The genetics of dermal ridges

1968 • 379 citations

Evolution and the genetics of populations. Vol. 1. Genetic and biométrie foundations.

1968 • 369 citations

Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome.

1968 • 347 citations

The Status of the Gene Map of the Human Chromosomes

1977 • 344 citations

THE LINKAGE OF GENES FOR THE HUMAN INTERFERON-INDUCED ANTIVIRAL PROTEIN AND INDOPHENOL OXIDASE-B TRAITS TO CHROMOSOME G-21

1973 • 291 citations

Congenital Malformations. Notes and Comments

1972 • 291 citations

Simultaneous Occurrence of Mongolism and Leukemia

1957 • 268 citations

Congenital Malformations in Autosomal Trisomy Syndromes

1966 • 237 citations

LEAD POISONING FROM HOME-MADE WINE

1960 • 213 citations

NEOPLASIA AND DOWNS SYNDROME

1970 • 200 citations

Average heterozygosity per locus in man: an estimate based on the incidence of enzyme polymorphisms

1972 • 185 citations

Down's syndrome and acute leukemia: Myeloblastic or lymphoblastic?

1972 • 185 citations

The Principles of Human Biochemical Genetics

1981 • 177 citations

Trisomie 21 et superoxyde dismutase-1 (IPO-A)

1976 • 175 citations

THE DISTAL TRIRADIUS t ON THE HANDS OF PARENTS AND SIBS OP MONGOL IMBECILES

1954 • 167 citations

The Genetics of Dermal Ridges.

1969 • 156 citations

MORTALITY AND LIFE‐TABLE IN DOWN'S SYNDROME

1975 • 156 citations

RENAL BIOPS IN CHILDREN.

1965 • 153 citations

Increased Susceptibility of Down's Syndrome Fibroblasts to Transformation by SV10.

1967 • 151 citations

Orthopedic Disorders in Patients with Down's Syndrome

1981 • 140 citations

Dosage effects for superoxide dismutase-1 in nucleated cells aneuploid for chromosome 21.

1977 • 137 citations

Down's syndrome

1974 • 134 citations

Down Syndrome With Congenital Heart Malformation

1977 • 119 citations

Complex Loci in Microorganisms

1959 • 114 citations

Localization of the Gene AVG for the Antiviral Expression of Immune and Classical Interferon to the Distal Portion of the Long Arm of Chromosome 21

1976 • 110 citations

Chromosome constitution and its bearing on the chromosomal radiosensitivity in man

1970 • 105 citations

CONGENITAL CARDIAC MALFORMATIONS IN MONGOLISM

1960 • 104 citations

VARIABILITY OF MONGOLISM

1955 • 98 citations

A LIFE‐TABLE FOR MONGOLS WITH THE CAUSES OF DEATH

1958 • 97 citations

Fluctuating dental asymmetry: A measure of developmental instability in Down syndrome

1980 • 95 citations

Click Evoked EEG Responses in Normal and Developmentally Retarded Infants

1967 • 93 citations

Variability of mongolism.

1955 • 92 citations

Medical Genetics: Principles and Practice

1974 • 91 citations

The Palate and Down's Syndrome

1967 • 90 citations

Clinical diagnosis of Down's syndrome

1976 • 86 citations

Amplified developmental instability in Down's syndrome

1975 • 83 citations

Visual and somato-sensory evoked responses from mongoloid and normal children

1970 • 80 citations

Familial Down syndrome due to t(10;21) translocation: evidence that the Down phenotype is related to trisomy of a specific segment of chromosome 21.

1975 • 77 citations

Psychomotor development in 65 home-reared children with cri-du-chat syndrome

1980 • 75 citations

Altered Cellular Immune Functions in Patients With Down's Syndrome

1981 • 75 citations

STRESS DEFICIENCY OF THE T-LYMPHOCYTE SYSTEM EXEMPLIFIED BY DOWN SYNDROME

1977 • 73 citations

THE EFFECT OF EARLY INTERVENTION AND PRE‐SCHOOL STIMULUS ON THE DEVELOPMENT OF THE DOWN'S SYNDROME CHILD

1979 • 73 citations

Taurodontism in the down syndrome

1981 • 72 citations

Absence of clustering of functionally related genes inPseudomonas aeruginosa

1965 • 69 citations

Aspects of Repression in the Regulation of Enzyme Synthesis: Pathway-Wide Control and Enzyme-Specific Response

1961 • 67 citations

Partial trisomy 21

1973 • 65 citations

Incidence, Mortality, and Sex Distribution of Mongoloid Defectives

1955 • 64 citations

Terminological, Diagnostic, Nosological, and Anatomical-Developmental Aspects of Developmental Defects in Man

1979 • 60 citations

Dosage effect of SOD-A gene in 21-trisomic cells

1976 • 58 citations

Down syndrome: Gene dosage at the transcriptional level in skin fibroblasts

1979 • 57 citations

MORTALITY TRENDS IN MENTAL DEFICIENCY INSTITUTIONS

1969 • 56 citations

LEUCOCYTE FUNCTION IN DOWN'S SYNDROME AND ACUTE LEUKÆMIA

1972 • 55 citations

PRENATAL DENTAL ANOMALIES IN MONGOLISM: COMMENTS ON THE BASIS AND IMPLICATIONS OF VARIABILITY

1970 • 54 citations

DELAYED ONTOGENESIS IN HUMAN TRISOMY SYNDROMES1

2009 • 51 citations

PHAGOCYTIC FUNCTION IN DOWN SYNDROME-I. CHEMOTAXIS

1980 • 49 citations

Retinoblastoma in a Patient with a 13qxp Translocation

1977 • 49 citations

THE MORTALITY RATE AND CAUSES OF DEATH AMONG INSTITUTIONALISED MONGOLS IN TEXAS

1973 • 47 citations

KERATOCONUS AND BLINDNESS IN 469 INSTITUTIONALISED SUBJECTS WITH DOWN SYNDROME AND OTHER CAUSES OF MENTAL RETARDATION

1981 • 47 citations

The adaptive significance of B-chromosomes in rye.

1966 • 45 citations

Increased Crown-Size Asymmetry in Trisomy G

1970 • 45 citations

DATA ON MONGOLISM IN VICTORIA, AUSTRALIA: PREVALENCE AND LIFE EXPECTATION*

1963 • 45 citations

PRENATAL MORTALITY OF TRISOMY 21 (DOWN'S SYNDROME)

1974 • 44 citations

Biochemical Aspects of Genetics

1965 • 43 citations

Relation of human abnormalities of structure and function to abnormalities of the dentition. II. Mongolism

1961 • 43 citations

Susceptibility of chromosomes from patients with Down's syndrome to 7,12-dimethylbenz(a) anthracene-induced aberrationsin vitro

1971 • 43 citations

Anatomical analysis of the developmental effects of aneuploidy in man: The down syndrome

1980 • 42 citations

Analysis of the gross anatomical variations found in four cases of trisomy 13

1978 • 41 citations

THE STATURE OF MONGOLS*

1965 • 40 citations

EEG Evoked Responses to Repetitive Auditory Stimulation in Normal and Down's Syndrome Infants

1971 • 40 citations

EPIDEMIOLOGY OF MONGOLISM IN THE COLLABORATIVE PROJECT*†

1970 • 40 citations

Possible “atavistic” structures in human aneuploids

1981 • 40 citations

Annotation: genetic effects of aneuploidy.

1973 • 38 citations

Genetics and Counseling in Cardiovascular Diseases.

1978 • 36 citations

Susceptibility to leukemia: immunologic factors in Down's syndrome.

1971 • 36 citations

ABNORMAL LYMPHOCYTE FUNCTION IN TRISOMY 21 *

1970 • 36 citations

AUSTRALIA ANTIGEN, HEPATITIS VIRUS AND DOWNS SYNDROME*

1970 • 35 citations

Down's syndrome and diabetes

1973 • 35 citations

Cytogenetic Observations in Cultured Lymphocytes from Patients with Down's Syndrome and Measles

1973 • 33 citations

Visual Evoked Responses as a Function of Light Intensity in Down's Syndrome and Nonretarded Subjects

1975 • 30 citations

Genetics and Counseling in Cardiovascular Diseases

1978 • 30 citations

Down's syndrome in Western Australia: mortality and survival

1979 • 27 citations

Down syndrome due to partial trisomy 21q

1977 • 27 citations

Decreased Repair of X-ray Induced DNA Single-Strand Breaks in Lymphocytes in Down's Syndrome

1980 • 27 citations

White cell function in Down's syndrome

1976 • 26 citations

A SCORE BASED ON EIGHT SIGNS IN THE DIAGNOSIS OF DOWN SYNDROME IN THE NEWBORN

1980 • 26 citations

[Genetics of common malformations].

1971 • 25 citations

A twin study of palatal dimensions partitioning genetic and environmental contributions to variability.

1969 • 23 citations

A Clinicopathologic Study of the Skin in Mongolism

1958 • 22 citations

Holoprosencephaly in a Down syndrome child

1980 • 22 citations

Mongolism in newborns, a clinical and cytogenetic study

1965 • 22 citations

Comparison of Radiation Effects in Vitro Upon Chromosomes of Human Subjects

1967 • 22 citations

Pathologic Features of the eye in Down's Syndrome with Relationship to Other Chromosomal Anomalies

1977 • 21 citations

Major and Minor Anomalies in Japanese Children with Down's Syndrome

1972 • 21 citations

THE JERUSALEM PROSPECTIVE NEWBORN SURVEY OF MONGOLISM*

1970 • 20 citations

Short Hard Palate in Newborn: Roentgen Sign of Mongolism

1969 • 20 citations

FOLLOW-UP INVESTIGATION OF NEWBORN MONGOLOIDS WITH RESPECT TO GROWTH RETARDATION

2009 • 20 citations

Diagnosis of Down's Syndrome: Clinical vs. Laboratory

1972 • 19 citations

Defects in granulocyte function in various chromosome abnormalities (down's-, edwards'-, cri-du-chat syndrome)

1976 • 19 citations

Chromosome Damage in Down's Syndrome Induced by Chickenpox Infection

1976 • 17 citations

Report on the Longevity and the Causes of Death in Mongoloidism in the State of Victoria

1954 • 16 citations

Variability in mongolism ‐a comparison of the hand skeleton in mongoloids and normals

1972 • 15 citations

RELATIONSHIP OF PHYSICAL STIGMATA TO INTELLECTUAL SUBNORMALITY IN MONGOLOIDS.

1965 • 14 citations

Carbohydrate Tolerance, Growth Hormone and Insulin Levels in Mongolism

1968 • 13 citations

Different sensitivity of diploid and trisomic cells from patients with Down syndrome mosaic after treatment with the trifunctional alkylating agent trenimon

1980 • 12 citations

Glucose tolerance in mongolism.

1959 • 10 citations

Insulin secretion in Down's syndrome

1973 • 9 citations

A comparison of the anatomical variations found in trisomies 13, 18 and 21

1982 • 9 citations

A NOTE ON TIME OF DIAGNOSIS IN MONGOLISM

1962 • 9 citations

Frequency of Cleft Uvula and Submucous Cleft Palate in Patients with Down's Syndrome

1974 • 9 citations

Abnormal findings on the spine in mongoloids.

1950 • 7 citations

High variability in mongoloid dermatoglyphs

1976 • 7 citations

Activity of rRNA genes in cells of a patient with Down syndrome mosaic

1980 • 6 citations

10 ~ The Unity of the Genotype

1963 • 1 citations