Prader‐Willi‐like phenotype in fragile X syndrome

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

1991 • 3,422 citations

An efficient salt-chloroform extraction of DNA from blood and tissues.

1989 • 638 citations

Prader‐Willi syndrome: Current understanding of cause and diagnosis

1990 • 574 citations

X-linked mental retardation, macro-orchidism, and the Xq27 fragile site

1980 • 247 citations

High resolution R- and G-banding on the same preparation

1981 • 210 citations

Population incidence and segregation ratios in the Martin‐Bell syndrome

1986 • 186 citations

Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11–q13): molecular diagnosis and mechanism of uniparental disomy

1993 • 174 citations

The Fragile X Chromosome

1983 • 144 citations

The female and the Fragile X. A study of 144 obligate female carriers

1986 • 132 citations

The fragile X syndrome: A study of 83 families

1984 • 102 citations

Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype.

1993 • 93 citations

Fragile (X) syndrome: a study of the psychological profile in 23 prepubertal patients

1987 • 91 citations

Mental Status and Fragile X Expression in Relation to FMR-1 Gene Mutation

1993 • 70 citations

Clinical paediatric endocrinology

1990 • 62 citations

Cerebral gigantism (Sotos syndrome) in two patients with fra(X) chromosomes

1986 • 46 citations

Relationship between diabetes mellitus and obesity in the child

1973 • 33 citations

Partial fra(X) phenotype with megalotestes in fra(X)‐negative patients with acquired lesions of the central nervous system

1986 • 27 citations

Do some patients with fragile X syndrome have precocious puberty?

1988 • 27 citations

True precocious puberty in a girl with the fragile X syndrome

1990 • 23 citations

Investigation of the twinning rate in families with the fragile X syndrome

1988 • 11 citations