Van Buchem Disease (Hyperostosis Corticalis Generalisata) Maps to Chromosome 17q12-q21

Facial Nerve Grading System

1985 • 3,608 citations

A comprehensive genetic map of the human genome based on 5,264 microsatellites

1996 • 2,983 citations

Faster sequential genetic linkage computations.

1993 • 1,378 citations

Pycnodysostosis, a Lysosomal Disease Caused by Cathepsin K Deficiency

1996 • 1,003 citations

Avoiding Recomputation in Linkage Analysis

1994 • 679 citations

Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.

1983 • 609 citations

Facial nerve grading systems.

1983 • 433 citations

Direct stimulation of bone resorption by thyroid hormones.

1976 • 372 citations

Linkage of a Gene Causing High Bone Mass to Human Chromosome 11 (11q12-13)

1997 • 321 citations

The Hormonal and Local Regulation of Bone Formation*

1983 • 226 citations

Skeletal Growth Factors

2010 • 213 citations

Primer on the metabolic bone diseases and disorders of mineral metabolism

1996 • 182 citations

An uncommon familial systemic disease of the skeleton: Hyperostosis corticalis generalisata familiaris

1955 • 145 citations

The syndromic status of sclerosteosis and van Buchem disease

1984 • 133 citations

Hyperostosis corticalis generalisata

1962 • 127 citations

High-Density Genetic Map of the BRCA1 Region of Chromosome 17q12-q21

1993 • 84 citations

Sclerosteosis — An autosomal recessive disorder

1977 • 77 citations

Sclerosing Bone Dysplasias

1980 • 77 citations

Localization of a Gene for Autosomal Dominant Osteopetrosis (Albers-Schönberg Disease) to Chromosome 1p21

1997 • 73 citations

Inherited disorders of the skeleton

1978 • 70 citations

Hyperostosis corticalis generalisata congenita.

1966 • 62 citations

Hyperostosis corticalis generalisata. Eight new cases.

1971 • 58 citations

Inherited Disorders of the Skeleton

1989 • 54 citations

HYPEROSTOSIS CORTICALIS GENERALISATA

1971 • 41 citations

Two cases of Van Buchem's disease.

1982 • 39 citations

Optimization of Microsatellite Analysis for Genetic Mapping

1993 • 36 citations

A somatic cell hybrid map of the long arm of human chromosome 17, containing the familial breast cancer locus (BRCA1).

1993 • 33 citations

Generalized Cortical Hyperostosis (Van Buchem Disease): Nosologic Considerations

1977 • 33 citations

Van Buchem's disease (hyperostosis corticalis generalisata)

1976 • 29 citations

Van Buchem's Disease (Hyperostosis Corticalis Generalisata Familiaris)

1968 • 25 citations

Second international workshop on human chromosome 17.

1991 • 25 citations

Searching for Gene Defects That Cause High Bone Mass

1997 • 24 citations

Facial paralysis at the age of 2 months as a first clinical sign of van Buchem disease (endosteal hyperostosis)

1988 • 23 citations

Skeletal growth factors

2020 • 23 citations

Van Buchem's disease (hyperostosis corticalis generalisata familiaris)

1971 • 22 citations

Sclerosteosis: a marker of dutch ancestry?

1982 • 21 citations

Dinucleotide repeat polymorphism in the THRA1 gene

1992 • 17 citations

Linkage Designer and Linkage Reporter software for automated gene localization studies

1996 • 13 citations

Van Buchem Disease: Surgical Treatment of the Mandible

1988 • 13 citations

Surgical treatment of van Buchem's disease

1985 • 12 citations

Van Buchem's disease with classical radiological features and appearances on cranial computed tomography

1989 • 10 citations

The biology of plasmids

1997 • 7 citations

[Endosteal hyperostosis with recessive transmission (Van Buchem's disease). A case report].

1991 • 5 citations

[Partial empty sella turcica in Van Buchem's disease].

1986 • 5 citations

[Pleural empyema and perinephritic abscess: a rare association].

1985 • 4 citations

[Van Buchem disease. Study of 2 cases and review of the literature].

1995 • 2 citations