[Cat-eye syndrome. Clinical and cytogenetical differentialdiagnosis (author's transl)].

Chromosome preparations of leukocytes cultured from human peripheral blood

1960 • 4,290 citations

A simple technique for demonstrating centromeric heterochromatin

1972 • 4,206 citations

Identification of human chromosomes by DNA-binding fluorescent agents

1970 • 989 citations

FAMILIAL HEART DISEASE WITH SKELETAL MALFORMATIONS

1960 • 506 citations

DNA Replication Patterns of Human Chromosomes

1963 • 362 citations

Staining of Some Specific Regions of Human Chromosomes, particularly the Secondary Constriction of No. 9

1972 • 251 citations

Chromosome studies in 5,049 consecutive newborn children

1973 • 157 citations

CHROMOSOMES IN COLOBOMA AND ANAL ATRESIA

1965 • 144 citations

A chromosome survey of 2,400 normal newborn infants

1969 • 115 citations

Trisomy 22: A clinical entity

1971 • 78 citations

Cat-eye syndrome, a partial trisomy 22

1972 • 59 citations

An aberrant small acrocentric chromosome

1962 • 51 citations

Congenital Cardiac Disease and the "Cat Eye" Syndrome

1973 • 44 citations

Anal atresia, eye anomalies, and an additional small abnormal acrocentric chromosome (47,XX,mar+): Report of a case

1970 • 43 citations

Chromosome findings in 700 children referred to a psychiatric clinic

1972 • 42 citations

Two cases of multiple malformations with an autosomal chromosomal aberration- partial trisomy D?

1962 • 40 citations

A Familial Centric Chromosome Fragment

1965 • 39 citations

(6;15) Translocation with loss of chromosome material in the patient and various chromosome aberrations in family members

1973 • 39 citations

Probable trisomy 22 identified by fluorescent and trypsin-giemsa banding.

1973 • 34 citations

A Probable Case of Incomplete Trisomy of a Chromosome of the 13-15 Group

1965 • 33 citations

Three non‐mongoloid patients of similar phenotype with an extra G‐like chromosome

1972 • 31 citations

Mental Retardation and Multiple Congenital Anomalies

1965 • 30 citations

Two kinships with accessory bisatellited chromosomes.

1973 • 28 citations

Translocations of D chromosomes in two families: t(13q14q) and t(13q14q)+(13p14p).

1969 • 28 citations

Multiple anomalies associated with an extra small metacentric chromosome: Modified Giemsa stain results

1973 • 26 citations

A NEW SYNDROME OF DYSMORPHOGENESIS: IMPERFORATE‐ANUS ASSOCIATED WITH POLY‐OLIGODACTYLY AND SKELETAL (MAINLY VERTEBRAL) ANOMALIES

1971 • 25 citations

The Holt-Oram Syndrome With Previously Undescribed Associated Anomalies

1972 • 23 citations

A familial minute isochromosome.

1966 • 21 citations

A NEW POLYDACTYLY/IMPERFORATE-ANUS/ VERTEBRAL-ANOMALIES SYNDROME ?

1968 • 21 citations

Familial extra centric bisatellited chromosome

1969 • 20 citations

"CAT EYE " SYNDROME WITH NORMAI CHROMOSOMES

1970 • 20 citations

Genetic studies on a minute centric fragment transmitted through three generations

1970 • 19 citations

Partielle Trisomie D1 ? eine seltene Chromosomenanomalie

1968 • 19 citations

The syndrome of the metacentric microchromosome.

1970 • 18 citations

Dermatoglyphics and chromosomes in cat-eye syndrome.

1971 • 18 citations

An Inherited Small Extra Chromosome: A Mother with 46,XX,t(17;22) (p1;q1) and a Son with 47,XY,+der(22) mat

1973 • 18 citations

Report of five unrelated patients with a small, metacentric, extra chromosome or fragment.

1971 • 17 citations

ADDITIONAL SMALL ACROCENTRIC CHROMOSOME: TWO CASES

1969 • 17 citations

THE CAT‐EYE SYNDROME REVIEW AND TWO FURTHER CASES OCCURRING IN FEMALE SIBLINGS WITH NORMAL CHROMOSOMES

1972 • 15 citations

Ocular Abnormality Associated with Extra Small Autosome

1968 • 15 citations

Pericentric inversions. Report on two malformation cases suggestive of parental inversion heterozygosity.

1967 • 14 citations

EXTRA CHROMOSOME IN " CAT EYE " SYNDROME

1970 • 14 citations

A NEW POLYDACTYLY/IMPERFORATE-ANUS/ VERTEBRAL-ANOMALIES SYNDROME?

1968 • 13 citations

Ribosomal DNA sites in a metacentric chromosome fragment

1974 • 13 citations

[Case of a mentally retarded and polymalformed child whose karyotype shows the presence of a small mediocentric extra chromosome].

1968 • 13 citations

A newborn with the cat-eye syndrome

1972 • 13 citations

Chromosome Mosaicism in a Mongol Born to a Young Mother

1963 • 12 citations

Father and daughter with presumptive isochromosome satellites-short arms D or G

1973 • 11 citations

[Two observations on the genetics of atresia ani].

1958 • 10 citations

[Transmission of a small supernumerary chromosome in a family with two cases of 21 trisomy].

1968 • 9 citations

A masculinizing syndrome associated with a doubly-satellited extra chromosome.

1965 • 8 citations

Additional G-like chromosome in a malformed boy.

1971 • 7 citations

An extra small metacentric chromosome in association with multiple congenital abnormalities.

1971 • 7 citations

" CAT EYE " SYNDROME WITH NORMAL CHROMOSOMES

1970 • 7 citations

[An unusual syndrome: colobomatous disorder of the eyeball, anal atresia, multiple congenital anomalies and presence of an extra chromosome].

1969 • 5 citations

[Pätau syndrome with trisomy D 1 and D/D translocation].

1965 • 5 citations

[Malformations of the vagina and rectum associated to chromosomic anomaly (47, XX, ?G+)].

1967 • 4 citations

Dermatoglyphics and chromosomes in cat-eye syndrome.

1971 • 4 citations