Clinical and molecular studies in full trisomy 22: Further delineation of the phenotype and review of the literature

Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA Polymerase

1988 • 17,059 citations

A cytogenetic study of 1000 spontaneous abortions

1980 • 671 citations

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

1977 • 495 citations

Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus

1992 • 421 citations

A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.

1992 • 420 citations

Catalogue of Unbalanced Chromosome Aberrations in Man

1985 • 420 citations

Chromosomal Mosaicism Confined to the Placenta in Human Conceptions

1983 • 387 citations

The ?Cat Eye syndrome?: Dicentric small marker chromosome probably derived from a No. 22 (Tetrasomy 22pter?q11) associated with a characteristic phenotype

1981 • 204 citations

Relationship between homozygosity at the dopamine D3 receptor gene and schizophrenia

1994 • 179 citations

Placental mosaicism and intrauterine survival of trisomies 13 and 18.

1989 • 179 citations

Characterization of the Supernumerary Chromosome in Cat Eye Syndrome

1986 • 159 citations

Cardiac malformations in the velocardiofacial syndrome

1980 • 114 citations

Parental origin of autosomal trisomies

1984 • 103 citations

Trisomy 22: A clinical entity

1971 • 78 citations

Trisomy 22 and facioauriculovertebral (Goldenhar) sequence

1993 • 64 citations

Chromosome Anomalies and Prenatal Development: An Atlas

1991 • 63 citations

Incomplete trisomy 22

1981 • 45 citations

Origin of acrocentric trisomies in spontaneous abortuses

1977 • 38 citations

Isolation and regional localization of 35 unique anonymous DNA markers for human chromosome 22

1991 • 36 citations

Trisomy 22 mosaicism syndrome and Ullrich‐Turner stigmata

1986 • 33 citations

Trisomy 22: No longer an enigma

1989 • 29 citations

Trisomy 22 in a newborn with multiple malformations

1987 • 29 citations

Trisomy 22 with congenital diaphragmatic hernia and absence of corpus callosum in a liveborn premature infant

1992 • 27 citations

Trisomy 22 in a liveborn infant with multiple congenital anomalies

1990 • 26 citations

Full trisomy 22 in a newborn infant.

1987 • 26 citations

A new contribution to the study of 22 trisomy

1975 • 20 citations

Apparently nonmosaic trisomy 22: Clinical report and review

1990 • 20 citations

Trisomy 22 in a newborn girl with multiple malformations

2009 • 19 citations

Trisomy 22 with holoprosencephaly: A clinicopathologic study

1990 • 14 citations

Trisomy 22 confirmed by fluorescent in situ hybridization

1993 • 13 citations

Trisomy 22: report of a patient diagnosed as a neonate.

1987 • 13 citations

Twelve New Polymorphic Microsatellites on Human Chromosome 22

1993 • 12 citations

Full trisomy 22 in a malformed newborn female.

1991 • 12 citations

Confirmation of trisomy 22 in two cases using chromosome painting: Comparison with t(11;22)

1993 • 10 citations

Dinucleotide repeat polymorphism at the human CRYB2 gene locus (22q11.2)

1992 • 3 citations

Transmisión hereditaria de un marcador familiar y trisomía 22

1978 • 1 citations