Smith‐Lemli‐Opitz (RSH) syndrome bibliography

A newly recognized syndromeof multiple congenital anomalies

1964 • 658 citations

Smith‐Lemli‐Opitz syndrome‐type II: Multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality

1987 • 230 citations

Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive and X-Linked Phenotypes

1967 • 139 citations

Borderline normal intelligence in the Smith‐Lemli‐Opitz (RSH) syndrome

1980 • 101 citations

Female external genitalia and müllerian duct derivatives in a 46,XY infant with the Smith‐Lemli‐Opitz syndrome

1987 • 86 citations

Ocular Manifestations of the Smith-Lemli-Opitz Syndrome

1981 • 70 citations

The lethal multiple congenital anomaly syndrome of polydactyly, sex reversal, renal hypoplasia, and unilobular lungs.

1986 • 69 citations

Possible abnormalities of steroid secretion in children with Smith-Lemli-Opitz syndrome and their parents

1985 • 68 citations

Smith-Lemli-Opitz syndrome: Review and report of two affected siblings

1975 • 61 citations

Smith‐Lemli‐Opitz Syndrome: Neuropathological and Ophthalmological Observations

1977 • 52 citations

The Gardner‐Silengo‐Wachtel or genito‐palato‐cardiac syndrome: Male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal cardiac defect

1987 • 51 citations

Syndrome of retardation with urogenital and skeletal anomalies (Smith-Lemli-Opitz syndrome): clinical features and mode of inheritance.

1969 • 48 citations

Cataracts in the Smith-Lemli-Opitz Syndrome

1971 • 45 citations

A familial syndrome of facial and skeletal anomalies associated with genital abnormality in the male and normal genitals in the female

1965 • 43 citations

Variability in the Smith‐Lemli‐Opitz syndrome: Overlap with the meckel syndrome

1983 • 42 citations

Hirschsprung disease in a 46,XY phenotypic infant girl with Smith-Lemli-Opitz syndrome

1983 • 41 citations

A new syndrome with features of the Smith‐Lemli‐Opitz and Meckel‐Gruber syndromes in a sibship with cerebellar defects

1987 • 41 citations

Micrognathia, polydactyly, and cleft palate

1968 • 41 citations

A syndrome characterized by mental retardation, short stature, craniofacial dysplasia, and genital anomalies occurring in siblings

1966 • 41 citations

Familial neonatally lethal syndrome of hypoplastic left heart, absent pulmonary lobation, polydactyly, and talipes, probably Smith‐Lemli‐Opitz (RSH) syndrome

1983 • 37 citations

A CASE OF THE SMITH-LEMLI-OPITZ SYNDROME OF MULTIPLE CONGENITAL ANOMALIES IN ASSOCIATION WITH DYSPLASIA EPIPHYSIALIS PUNCTATA.

1965 • 36 citations

Neurological Involvement in the Smith‐Lemli‐Opitz Syndrome: Clinical and Neuropathological Findings

1973 • 35 citations

The smith-lemli-opitz syndrome

1984 • 35 citations

Smith‐Lemli‐Opitz syndromes: Do they include the Pallister‐Hall syndrome?

1987 • 35 citations

Smith-Lemli-Opitz Syndrome

1968 • 34 citations

Direct duplication 2p14?2p23

1979 • 33 citations

The syndrome of retardation with urogenital and skeletal anomalies in siblings

1966 • 33 citations

The pathological anatomy of the Smith‐Lemli‐Opitz syndrome

1975 • 32 citations

Smith-Lemli-Opitz syndrome in two 46,XY infants with female external genitalia

1984 • 30 citations

An autosomal recessive mental retardation syndrome with hepatic fibrosis and renal cysts

1986 • 27 citations

SMITH-LEMLI-OPITZ SYNDROME WITH CARDIOVASCULAR ABNORMALITY

1971 • 26 citations

Cataracts in a girl with features of the Smith-Lemli-Opitz syndrome

1969 • 25 citations

THE SMITH‐LEMLI‐OPITZ SYNDROME IN AN ADULT MALE*†

1969 • 23 citations

Congenital heart disease in an infant with the Smith-Lemli-Opitz syndrome

1968 • 23 citations

Smith-Lemli-Opitz syndrome in a Negro child

1969 • 21 citations

Sclerocornea Associated with the Smith-Lemli-Opitz Syndrome

1977 • 21 citations

Two cases of severe lethal Smith‐Lemli‐Opitz syndrome

1987 • 21 citations

Smith‐Lemli‐Opitz syndrome

1987 • 19 citations

Smith-Lemli-Opitz syndrome. Case report.

1968 • 18 citations

Lincoln vs. Douglas again; comments on the papers by Curry et al, Greenberg et al, and Belmont et al

1987 • 17 citations

INTESTINAL AGANGLIONOSIS IN THE SMITH‐LEMLI‐OPITZ SYNDROME

1983 • 17 citations

Smith-Lemli-Opitz Syndrome in an Inbred Family

1972 • 17 citations

A familial syndrome of mental retardation in association with multiple congenital anomalies resembling the syndrome of Smith-Lemli-Opitz.

1967 • 17 citations

Ocular manifestations in Kniest syndrome, Smith-Lemli-Opitz syndrome, Hallermann-Streiff-François syndrome, Rubinstein-Taybi syndrome and median cleft face syndrome

1985 • 16 citations

The Smith-Lemli-Opitz Syndrome

1977 • 16 citations

THE SMITH‐LEMLI‐OPITZ SYNDROME IN A PROFOUNDLY RETARDED EPILEPTIC BOY

1971 • 15 citations

Postlenticular Membrane Associated With Smith-Lemli-Opitz Syndrome

1979 • 15 citations

An additional case of Smith-Lemli-Opitz syndrome in a 46,XY infant with female external genitalia.

1986 • 13 citations

SMITH‐LEMLI‐OPITZ SYNDROME IN AN ADULT

1972 • 13 citations

Smith-Lemli-Opitz Syndrome in a 23-Year-Old Man

1973 • 12 citations

Das Smith-Lemli-Opitz-Syndrom

1969 • 11 citations

THREE SISTERS WITH THE SMITH-LEMLI-OPITZ SYNDROME

1974 • 11 citations

Nosology of Smith‐Lemli‐Opitz syndrome

1987 • 11 citations

THE SMITH–LEMLI–OPITZ SYNDROME

1971 • 10 citations

[Smith-Lemli-Opitz syndrome. Description of 2 cases and review of the literature].

1978 • 8 citations

Smith-Lemli-Opitz syndrome: report of a new case and review of the literature.

1972 • 7 citations

Smith-Lemlie-Opitz syndrome in an Indian child.

1971 • 6 citations

[Smith-Lemli-Opitz syndrome: description of 2 affected brothers, clinical characterization and hereditary mechanism].

1973 • 6 citations

Picture of the month. Smith-Lemli-Opitz syndrome.

1968 • 5 citations

[Smith-Lemli-Opitz syndrome].

1970 • 5 citations

[Two malformative syndromes possibly unifiable: Ullrich-Feichtiger and Smith-Lemli-Opitz syndromes. Case report].

1969 • 5 citations

[Is there a syndrome of Ullrich and Feichtiger?(Author's transl)].

1975 • 5 citations

A Case of Smith-Lemli-Opitz Syndrome

1972 • 4 citations

[Early the larche and hyperprolactinemia in the Smith-Lemli-Opitz syndrome].

1979 • 4 citations

Smith-Lemli-Opitz syndrome: two further cases.

1975 • 3 citations

[Genetics of nephroblastoma. II. The incidence of developmental defects and dysplastic and asymmetrical traits in children with nephroblastoma].

1983 • 3 citations

Das Smith-Lemli-Opitz-Syndrom

2005 • 3 citations

[Case of Smith-Lemli-Opitz syndrome with atrial heart septal defect].

1970 • 3 citations

Smith-Lemli-Optiz syndrome in a 23-year-old man

1973 • 3 citations

SMITH‐LEMLI‐OPITZ SYNDROME

1968 • 3 citations

Síndrome de Smith-Lemli-Opitz

2001 • 3 citations

The Smith-Lemli-Opitz syndrome in a five months old child.

1977 • 3 citations

Le syndrome de Smith-Lemli-Opitz

1999 • 2 citations

Smith‐Lemli‐Opitz Syndrome

1977 • 2 citations

[Smith-Lemli-Opitz syndrome. Case report and differential diagnosis].

1982 • 2 citations

Smith-Lemli-opitz syndrome

1973 • 2 citations

[Smith-Lemli-Opitz-syndrome (RSH-syndrome)].

1975 • 2 citations