A new syndrome of anosmia, ichthyosis, hypogonadism, and various neurological manifestations with deficiency of steroid sulfatase and arylsulfatase C

PROTEIN MEASUREMENT WITH THE FOLIN PHENOL REAGENT

1951 • 319,299 citations

The Metabolic Basis of Inherited Disease.

1983 • 2,885 citations

Handbook of Clinical Neurology

1970 • 919 citations

The genetic aspects of primary eunuchoidism

1944 • 660 citations

The assay of arylsulphatases A and B in human urine

1959 • 624 citations

Recognition of Partial Defects in Antidiuretic Hormone Secretion

1970 • 386 citations

A Unique Case of Trichorrhexis Nodosa—"Bamboo Hairs"

1958 • 262 citations

Clinical Features of Autosomal Dominant and Sex-linked Ichthyosis in an English Population

1966 • 213 citations

Inherited Chondrodysplasia Punctata Due to a Deletion of the Terminal Short Arm of an X Chromosome

1984 • 188 citations

ON CERTAIN PHYSIOLOGIC RESPONSES TO INTRAVENOUS INJECTION OF CALCIUM SALTS INTO NORMAL, HYPERPARATHYROID AND HYPOPARATHYROID PERSONS*†

1953 • 184 citations

Syndrome of anosmia with hypogonadotropic hypogonadism (kallmann syndrome)

1982 • 171 citations

ENZYMATIC BASIS OF TYPICAL X-LINKED ICHTHYOSIS

1978 • 166 citations

Restoration of Normal Pituitary Gonadotropin Reserve by Administration of Luteinizing-Hormone-Releasing Hormone in Patients with Hypogonadotropic Hypogonadism

1975 • 154 citations

Genetic Classification of Ichthyosis

1965 • 153 citations

Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223

1980 • 148 citations

The syndrome of anosmia with hypogonadotropic hypogonadism: A genetic study of 18 new families and a review

1983 • 132 citations

Genetic aspects in male hypogonadism.

1961 • 130 citations

THE USE OF HYPERTONIC SALINE INFUSIONS IN THE DIFFERENTIAL DIAGNOSIS OF DIABETES INSIPIDUS AND PSYCHOGENIC POLYDIPSIA

1947 • 128 citations

Steroid sulfatase of human leukocytes and epidermis and the diagnosis of recessive X-linked ichthyosis.

1981 • 116 citations

Interrelationships in the Regulation of TSH and Prolactin Secretion in Man: Effects of L-Dopa, TRH and Thyroid Hormone in Various Combinations*

1974 • 113 citations

Hypogonadotropic Eunuchoidism. II. Gonadal Responsiveness to Exogenous Gonadotropins

1973 • 107 citations

X-linked steroid sulfatase: Evidence for different gene-dosage in males and females

1980 • 103 citations

TOXIC AMBLYOPIA DURING ANTIDEPRESSANT TREATMENT WITH PHENIPRAZINE (CATRAN®)

1962 • 103 citations

Single-Dose Metyrapone Test

1970 • 101 citations

Eye Changes in Ichthyosis

1968 • 94 citations

Ocular manifestations of ichthyosis.

1968 • 89 citations

The Histology of Ichthyosis**From the Population Genetics Research Unit, Old Road, Headington, Oxford, England.

1966 • 80 citations

Oligophrenia in Combination with Congenital Ichthyosis and Spastic Disorders: A Clinical and Genetic Study

1958 • 77 citations

THE ICHTHYOSIFORM DERMATOSES

1968 • 64 citations

Effect of Propranolol on the Response of Serum Growth Hormone to Glucagon

1971 • 61 citations

Median craioencephalic dysraphias and olfactogenital dysplasia.

1962 • 60 citations

Mirror movement: Application of movement‐related cortical potentials

1984 • 59 citations

Histology of Autosomal Dominant Ichthyosis Vulgaris and X-linked Ichthyosis

1970 • 57 citations

Hypogonadotropic hypogonadism with anosmia--Kallmann's syndrome. A disorder of olfactory and hypothalamic function

1973 • 55 citations

Associated movements in man

1969 • 54 citations

Hereditary Renal Disease with Neurosensory Hearing Loss, Prolinuria and Ichthyosis

1968 • 50 citations

Hereditary bimanual synkinesis combined with hypogonadotropic hypogonadism and anosmia in four brothers

1978 • 49 citations

Secondary male hypogonadism and congenital ichthyosis: association of two rare genetic diseases.

1960 • 45 citations

Effect of Synthetic Luteinizing Hormone-Releasing Hormone (LH-RH) in Two Brothers with Hypogonadotropic Hypogonadism and Anosmia

1973 • 44 citations

Hypothalamic-Pituitary Function in the Olfacto-Genital Syndrome

1974 • 37 citations

A syndrom characterized by congenital ichthyosis with atrophy, mental retardation, dwarfism, and generalized aminoaciduria

1973 • 33 citations

Deficiency of arylsulfatase C in cultured skin fibroblasts of X-linked ichthyosis

1979 • 33 citations

Multiple lentigines syndrome: New findings of hypogonadotrophism, hyposmia, and unilateral renal agenesis

1971 • 28 citations

Adrenal Function in Children

1963 • 28 citations

X-linked syndrome of congenital ichthyosis, hypogonadism, mental retardation and anosmia.

1976 • 26 citations

HYPOGONADOTROPHIC HYPOGONADISM RESISTANT TO hCG AND RESPONSIVE TO LHRH: REPORT OF A CASE

1983 • 25 citations

Female Kallmann’s Syndrome: Evidence for a Hypothalamic Luteinizing Hormone-Releasing Hormone Deficiency

1980 • 25 citations

Effect of Prolonged LH-Releasing Hormone Administration on Gonadotropin Response in Patients with Hypothalamic and Pituitary Tumors

1975 • 25 citations

Heterogeneity of Prolactin and TSH Response to TRH in Hypogonadotropic Hypogonadism

1977 • 25 citations

Y-to-X chromosome translocation observed in two generations

1980 • 24 citations

Heredopathia atactica polyneuritiformis: A Familial Syndrome not Hitherto Described. A Contribution to the Clinical Study of the Hereditary Diseases of the Nervous System

1947 • 22 citations

Familial ichthyosis, dwarfism, mental retardation, and renal disease

1978 • 22 citations

Congenital ichthyosis, mental retardation, dwarfism and renal impairment: A new syndrome

1975 • 20 citations

X‐linked ichthyosis, bilateral cryptorchidism, hypogenitalism and mental retardation in two siblings

1976 • 15 citations

Exploration de la fonction ovarienne par les gonadotropines chorioniques associées à la dexaméthasone. Application au diagnostic des virilismes ovariens

1962 • 4 citations