A genetic study of Hirschsprung disease.

CONGENITAL HEART DISEASE: PREVALENCE AT LIVEBIRTH

1985 • 999 citations

Analysis of family resemblance. 3. Complex segregation of quantitative traits.

1974 • 569 citations

Complex Segregation Analysis with Pointers

1981 • 391 citations

DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA.

1965 • 260 citations

The Genetics of Hirschsprung's Disease

1967 • 236 citations

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

1987 • 230 citations

Association of Megacolon with Two Recessive Spotting Genes in the Mouse

1966 • 193 citations

White forelock, pigmentary disorder of irides, and long segment Hirschsprung disease: Possible variant of Waardenburg syndrome

1981 • 174 citations

Genetics, chance, and morphogenesis.

1987 • 172 citations

Chromosome maps of man and mouse, III

1987 • 162 citations

Hirschsprung disease in a large birth cohort

1985 • 144 citations

Hirschsprungʼs Disease in a Family with Multiple Endocrine Neoplasia Type 2

1982 • 126 citations

Effects of the size of lesions of the cardiac neural crest at various embryonic ages on incidence and type of cardiac defects.

1986 • 113 citations

The association of Waardenburg syndrome and Hirschsprung megacolon

1979 • 104 citations

An Epidemiological Study of Hirschsprung's Disease

1984 • 102 citations

Inability of neural crest cells to colonize the presumptive aganglionic bowel of ls/ls mutant mice: Requirement for a permissive microenvironment

1987 • 102 citations

Embryogenesis of the enteric ganglia in normal mice and in mice that develop congenital aganglionic megacolon

1973 • 98 citations

Estimated rates of Down syndrome in live births by one year maternal age intervals for mothers aged 20-49 in a New York State study-implications of the risk figures for genetic counseling and cost-benefit analysis of prenatal diagnosis programs.

1977 • 96 citations

MALFORMATIONS AND LEUKEMIA IN CHILDREN WITH DOWN'S SYNDROME

1970 • 86 citations

Hirschsprung disease: a genetic study

1985 • 84 citations

Congenital central hypoventilation syndrome and Hirschsprung's disease in half sibs.

1989 • 70 citations

Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration.

1988 • 68 citations

Interstitial deletion of distal 13q associated with Hirschsprung's disease.

1989 • 64 citations

Separation of retinoblastoma and esterase D loci in a patient with sporadic retinoblastoma and del(13)(q14.1q22.3)

1984 • 62 citations

Increased adhesiveness of Down syndrome fetal fibroblasts in vitro.

1984 • 51 citations

Tandem duplication of proximal 22q: A cause of cat‐eye syndrome

1985 • 49 citations

Autosomal dominant aniridia: probable linkage to acid phosphatase-1 locus on chromosome 2.

1980 • 45 citations

Hirschsprung's disease in a kindred: A possible clue to the genetics of the disease

1982 • 42 citations

Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome.

1988 • 42 citations

Piebaldness With Hirschsprung's Disease

1980 • 39 citations

Concurrent de novo interstitial deletion of band 2p22 and reciprocal translocation (3;7)(p21;q22).

1988 • 32 citations

Parental origin of the extra chromosome in the cat eye syndrome: Evidence from heteromorphism and in situ hybridization analysis

1988 • 30 citations

Association of Hirschsprung's disease and imperforate anus in a patient with “Cat-eye” syndrome

1984 • 28 citations

Familial Hirschsprung's Disease and Type D Brachydactyly: A Report of Four Affected Males in Two Generations

1983 • 25 citations

Three‐generation transmission of Hirschsprung's disease

1987 • 23 citations

?Partial trisomy 22 and 11? due to a paternal 11;22 translocation associated with hirschsprung disease

1986 • 18 citations

Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features: a distinct autosomal recessive syndrome?

1988 • 14 citations

Children of those treated surgically for Hirschsprung's disease.

1981 • 12 citations

Hirschsprung disease: Etiologic implications of unsuccessful prenatal diagnosis

1983 • 11 citations

Hirschsprung disease in progeny of affected individuals: a case report and review of the literature.

1982 • 4 citations

Familiäres Megakolon¹

1981 • 1 citations