The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: Identification of a somatic mosaicism for aPOU3F4 missense mutation

Crystal structure of the Oct-1 POU domain bound to an octamer site: DNA recognition with tethered DNA-binding modules

1994 • 506 citations

Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome.

1992 • 480 citations

Association Between X-Linked Mixed Deafness and Mutations in the POU Domain Gene POU3F4

1995 • 421 citations

Development and survival of the endocrine hypothalamus and posterior pituitary gland requires the neuronal POU domain factor Brn-2.

1995 • 274 citations

X-linked deafness, stapes gushers and a distinctive defect of the inner ear

1991 • 206 citations

Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect

1993 • 181 citations

Structure and evolution of four POU domain genes expressed in mouse brain.

1992 • 135 citations

Fos and bone cell development: lessons from a nuclear oncogene

1995 • 121 citations

Somatic mosaicism in a patient with neurofibromatosis type 1.

1996 • 110 citations

Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent.

1990 • 99 citations

RHS2, a POU domain-containing gene, and its expression in developing and adult rat.

1992 • 94 citations

Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery.

1994 • 74 citations

Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency).

1991 • 68 citations

Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3

1995 • 68 citations

Mosaicism for an Intragenic Deletion in a Boy with Mild Ornithine Transcarbamylase Deficiency

1988 • 67 citations

POU domain transcription factors in embryonic development.

1997 • 52 citations

Clinical features of female heterozygotes in the X-linked mixed deafness syndrome (with perilymphatic gusher during stapes surgery)

1984 • 49 citations

Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.

1992 • 45 citations

A novel class of murine POU gene predominantly expressed in central nervous system.

1993 • 39 citations

Perilymphatic gusher and stapes surgery. A predictable complication?

1983 • 37 citations

X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions

1994 • 37 citations

X-linked deafness in a South African kindred.

1974 • 20 citations