Hereditary Deafness in Man

Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval, and sudden death

1957 • 1,593 citations

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

1951 • 627 citations

Familial Syndrome Combining Deaf-Mutism, Stippled Epiphyses, Goiter and Abnormally High PBI: Possible Target Organ Refractoriness to Thyroid Hormone¹²

1967 • 553 citations

DISEASES OF THE NERVOUS SYSTEM IN INFANCY, CHILDHOOD AND ADOLESCENCE

1937 • 498 citations

URTICARIA, DEAFNESS, AND AMYLOIDOSIS: A NEW HEREDO-FAMILIAL SYNDROME

1962 • 368 citations

HEREDITARY SENSORY RADICULAR NEUROPATHY

1951 • 207 citations

Deafness as Part of an Hereditary Syndrome

1959 • 187 citations

Genetic and clinical heterogeneity in the oral-facial-digital syndromes

1967 • 136 citations

Refsum's Disease: Nature of the Enzyme Defect

1967 • 134 citations

Genetical aspects of the cardio‐auditory syndrome of Jervell and Lange‐Nielsen (congenital deafness and electrocardiographic abnormalities)

1964 • 130 citations

Hyperostosis corticalis generalisata

1962 • 127 citations

Pathology of the Ear in the Cardio-Auditory Syndrome of Jervell and Lange-Nielsen (Recessive Deafness with Electrocardiographic Abnormalities)

1966 • 111 citations

Knuckle Pads, Leukonychia and Deafness

1967 • 110 citations

HEREDITARY DEAF MUTISM, WITH PARTICULAR REFERENCE TO NORTHERN IRELAND

1956 • 108 citations

DIETARY EFFECTS ON SERUM-PHYTANIC-ACID LEVELS AND ON CLINICAL MANIFESTATIONS IN HEREDOPATHIA ATACTICA POLYNEURITIFORMIS

1966 • 108 citations

Otosclerosis

1955 • 105 citations

Familial opticoacoustic nerve degeneration and polyneuropathy

1967 • 104 citations

Waardenburg's syndrome

1960 • 104 citations

Anterior lenticonus and Alport's syndrome.

1966 • 103 citations

Partial Albinism and Deaf Mutism

1962 • 98 citations

A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance.

1963 • 94 citations

A familial syndrome of renal, genital, and middle ear anomalies

1968 • 88 citations

HEREDITARY PERFORATING ULCER OF THE FOOT.

1922 • 88 citations

The Oto-palato-digital Syndrome

1967 • 84 citations

Pigmentary Disorders in Association With Congenital Deafness

1967 • 83 citations

FAMILIAL ECTODERMAL DYSPLASIA WITH SENSORI-NEURAL DEAFNESS AND OTHER ANOMALIES

1962 • 79 citations

Congenital Deafness Associated with Onychodystrophy

1961 • 77 citations

THE ASSOCIATION OF JUVENILE DIABETES MELLITUS AND OPTIC ATROPHY: CLINICAL AND GENETICAL ASPECTS

1966 • 77 citations

Congenital heart disease, deafness, andskeletal malformations: A new syndrome?

1966 • 72 citations

Hereditary Deafness in Family with Ear-pits (Fistula Auris Congenita)

1955 • 70 citations

The neurologic manifestations of osteopetrosis (Albers‐Schönberg's disease)

1963 • 64 citations

Congenital Deafness Associated With Piebaldness

1965 • 63 citations

THE OCCURRENCE IN OSTEITIS DEFORMANS OF LESIONS OF THE CENTRAL NERVOUS SYSTEM, WITH A REPORT OF FOUR CASES

1923 • 61 citations

Deafness with Sporadic Goiter: Pendred's Syndrome

1962 • 58 citations

The hereditary snydrome of congenital deafness and retinitis pigmentosa

1966 • 58 citations

Concomitant Progressive Deafness, Chronic Nephritis, and Ocular Lens Disease

1963 • 58 citations

BILATERAL ACOUSTIC NEUROFIBROMAS

1940 • 56 citations

Hereditary nephritis

1963 • 55 citations

Hereditary Malformations of the Ear in Three Generations: Marginal Pits, Pre-auricular Appendages, Malformations of the Auricle and Conductive Deafness

1962 • 51 citations

Studies on Progressive Hereditary Perceptive Deafness in A Family of 335 Members: I. Genetical and General Audiological Results

1966 • 46 citations

Dominantly Inherited Low-Frequency Hearing Loss

1968 • 46 citations

Dominant Hereditary Nerve Deafness

1960 • 44 citations

ENGELMANN'S DISEASE

1961 • 44 citations

The Treacher Collins-Franceschetti Syndrome

1957 • 42 citations

Congenital Renal Disease, Deafness and Myopia in one Family

1963 • 40 citations

Pili torti and sensory neural hearing loss

1967 • 38 citations

Hereditary branchial anomalies and associated hearing impairment

1966 • 38 citations

A FAMILIAL HORMONAL DISORDER ASSOCIATED WITH MENTAL DEFICIENCY, DEAF MUTISM AND ATAXIA*

1959 • 36 citations

The Temporal Bone in Osteopetrosis

1969 • 35 citations

UNILATERAL HEREDITARY DEAFNESS

1939 • 35 citations

Hereditary photomyoclonus associated with diabetes mellitus, deafness, nephropathy, and cerebral dysfunction

1964 • 33 citations

Familial Bilateral Acoustic Neuroma Affecting 14 Members from Four Generations

1968 • 31 citations

Loss of Hearing Following the Syndrome of Van Der Hoeve-De Kleyn

1968 • 29 citations

Otological Observations on the “Treacher Collins Syndrome”

1962 • 28 citations

Hereditary Progressive Perceptive Deafness in a Family of 72 Patients

1968 • 28 citations

A neuroectodermal syndrome of dominant inheritance

1965 • 28 citations

Hereditary sensory radicular neuropathy and other defects in a large family

1958 • 27 citations

Keratosis palmaris et plantaris cum surditate congenita et leuconychia totali unguium

1963 • 26 citations

Recessive Early-Onset Neural Deafness

1967 • 25 citations

Hereditary Nerve Deafness: A Follow-Up of Four Cases in One Family

1962 • 24 citations

BLUE SCLEROTICS, FRAGILE BONES AND DEAFNESS

1934 • 24 citations

Dominant Hereditary Conductive Deafness Through Lack of Incus-Stapes Junction

1968 • 23 citations

Refsum's Syndrome

1957 • 22 citations

Histopathology of the temporal bone in advanced paget's disease

1969 • 22 citations

Conductive hearing loss and malformed low-set ears, as a possible recessive syndrome.

1969 • 20 citations

Das erbliche Syndrom: Innenohrschwerhörigkeit und Jodfehlverwertung mit Kropf¹

1961 • 19 citations

Deafness and the Treacher Collins Syndrome

1961 • 18 citations

Hereditary nerve deafness.

1949 • 16 citations

CONDUCTIVE DEAFNESS DUE TO PYLE??S DISEASE

1957 • 15 citations

[PRIMARY OPTIC ATROPHY AND NEUROGENIC DEAFNESS IN JUVENILE DIABETES. (APROPOS OF 3 CASES)].

1964 • 15 citations

Unilateral Anacusis: Clinical, Radiological, and Genetic Investigations

1960 • 14 citations

Vestibularisstörungen bei erblicher Taubheit

1937 • 13 citations

Cochlear Deafness, Myopia, and Intellectual Impairment in an Amish Family

1968 • 13 citations

Hereditary sensory radicular neuropathy

1964 • 13 citations

Familial Neural Hearing Loss and Atopic Dermatitis

1968 • 12 citations

Two types of congenital recessive deafness.

1969 • 8 citations