Molecular detection of a Yp/18 translocation in a 45,X holoprosencephalic male

The sex-determining region of the human Y chromosome encodes a finger protein

1987 • 847 citations

Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use.

1977 • 495 citations

The spectrum of the DiGeorge syndrome

1979 • 401 citations

A deletion map of the human Y chromosome based on DNA hybridization.

1986 • 337 citations

Occurrence of a transposition from the X-chromosome long arm to the Y-chromosome short arm during human evolution

1984 • 240 citations

Isolation and characterization of an alphoid centromeric repeat family from the human Y chromosome

1985 • 236 citations

Holoprosencephaly in infants of diabetic mothers

1983 • 220 citations

Human XX males with Y single-copy DNA fragments

1984 • 183 citations

Clinical Atlas of Human Chromosomes

1985 • 161 citations

GENETICS OF THE MECKEL SYNDROME (DYSENCEPHALIA SPLANCHNOCYSTICA)

1971 • 130 citations

Y;autosome translocations and mosaicism in the aetiology of 45,X maleness: assignment of fertility factor to distal Yq11

1988 • 124 citations

Holoprosencephaly: birth data, benetic and demographic analyses of 30 families.

1975 • 119 citations

Familial alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate

1963 • 118 citations

Holoprosencephaly and facial dysmorphia: nosology, etiology and pathogenesis.

1971 • 113 citations

Familial holoprosencephaly with endocrine dysgenesis

1968 • 103 citations

Sex Reversal: Deletion Mapping the Male-determining Function of the Human Y Chromosome

1986 • 99 citations

Syndrome of polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation in endogamic gypsies.

1980 • 93 citations

Extensive sequence homologies between Y and other human chromosomes

1984 • 81 citations

Single central incisor in familial holoprosencephaly

1984 • 77 citations

Cyclopia and congenital cytomegalovirus infection

1987 • 73 citations

Extensive DNA sequence homologies between the human Y and the long arm of the X chromosome.

1985 • 61 citations

Molecular detection of a translocation (Y;15) in a 45,X male

1986 • 56 citations

Velo‐cardio‐facial syndrome presenting as holoprosencephaly

1985 • 48 citations

Single central maxillary incisor and holoprosencephaly

1987 • 44 citations

A 45,X male with Y-specific DNA translocated onto chromosome 15.

1987 • 43 citations

Holoprosencephaly: Association with interstitial deletion of 2p and review of the cytogenetic literature

1988 • 42 citations

A 45,X male with a Yp/18 translocation

1986 • 42 citations

Further cytologic evidence for Xp-Yp translocation in XX males using in situ hybridization with Y-derived probe

1987 • 39 citations

Comparative analysis of mouse-human hybrids with rearranged chromosomes 1 by in situ hybridization and southern blotting: High-resolution mapping of NRAS, NGFB, and AMY on human chromosome 1

1984 • 38 citations

Holoprosencephaly With Median Cleft Lip

1972 • 33 citations

Arhinencephaly in an Infant Born to a Diabetic Mother

1959 • 31 citations

Multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to partial 1q duplication and possible 18p deletion: A study of four individuals in two families

1979 • 30 citations

Recurrence of holoprosencephaly in families with a positive history.

1983 • 26 citations

Holoprosencephaly and endocrine dysgenesis in brothers

1980 • 26 citations

The pathology of some malformations and hereditary diseases of the respiratory tract.

1976 • 25 citations

Pinworm Infestation and Urinary Tract Infection in Young Girls

1974 • 24 citations

XII. Familiäres Vorkommen von Cyklopie und Arrhinencephalie

1921 • 23 citations

Familial Holoprosencephaly

1970 • 22 citations

Minute chromosomes replacing the Y chromosome carry Y‐specific sequences by restriction fragment analysis and in situ hybridization

1985 • 20 citations

Familial Cebocephaly

1970 • 19 citations

A Y/5 translocation in a 45,X male with cri du chat syndrome

1987 • 18 citations

Dominant inheritance of holoprosencephaly.

1978 • 17 citations

Famili�re H�ufung von Fehlbildungen der Arhinencephaliegruppe

1961 • 15 citations

Familial holoprosencephaly.

1971 • 10 citations

Familienbefunde bei letalen Anomalien der Korperform

1954 • 10 citations

Familial chromosome translocation t(3;18)(p21;p11).

1981 • 10 citations

HOLOPROSENCEPHALY WITH MEDIAN CLEFT LIP

1972 • 8 citations

[Familial findings on lethal anomalies of the human body].

1953 • 3 citations

[A case of cyclopia in a sibling group presenting additionally several median malformations of the face].

1968 • 1 citations

Deleted Work

1955 • 0 citations