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Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene

Data up to Jan 2025

Published2000
Citations120
References28

Total Citations Per Year

Abstract

References (28)

Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome

1996 • 767 citations

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1995 • 478 citations

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13 in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

1997 • 355 citations

Glypican-3–Deficient Mice Exhibit Developmental Overgrowth and Some of the Abnormalities Typical of Simpson-Golabi-Behmel Syndrome

1999 • 322 citations

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1996 • 273 citations

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1995 • 271 citations

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1998 • 187 citations

OCI-5/GPC3, a Glypican Encoded by a Gene That Is Mutated in the Simpson-Golabi-Behmel Overgrowth Syndrome, Induces Apoptosis in a Cell Line–specific Manner

1998 • 186 citations

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1998 • 151 citations

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1996 • 137 citations

OCI-5/Rat Glypican-3 Binds to Fibroblast Growth Factor-2 but Not to Insulin-like Growth Factor-2

1997 • 132 citations

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1999 • 124 citations

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1975 • 114 citations

Simpson‐golabi‐behmel syndrome associated with renal dysplasia and embryonal tumor: Localization of the gene to Xqcen‐q21

1992 • 108 citations

GPC4,the Gene for Human K-Glypican, FlanksGPC3on Xq26: Deletion of theGPC3–GPC4Gene Cluster in One Family with Simpson–Golabi–Behmel Syndrome

1998 • 83 citations

Infantile lethal variant of Simpson‐Golabi‐Behmel syndrome associated with hydrops fetalis

1995 • 78 citations

Mapping of a New SGBS Locus to Chromosome Xp22 in a Family with a Severe Form of Simpson-Golabi-Behmel Syndrome

1999 • 68 citations

GPC6, a Novel Member of the Glypican Gene Family, Encodes a Product Structurally Related to GPC4 and Is Colocalized withGPC5on Human Chromosome 13

1999 • 67 citations

Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome.

1997 • 65 citations

Clinical overlap of Beckwith‐Wiedemann, Perlman and Simpson‐Golabi‐Behmel syndromes: a diagnostic pitfall

1995 • 50 citations

A patient with Simpson-Golabi-Behmel syndrome and hepatocellular carcinoma.

1998 • 48 citations

A small interstitial deletion in the GPC3 gene causes Simpson-Golabi-Behmel syndrome in a Dutch-Canadian family

1999 • 47 citations

Mapping of Simpson - Golabi - Behmel syndrome to Xq25 - q27

1994 • 40 citations

Analysis of Exon/Intron Structure and 400 kb of Genomic Sequence Surrounding the 5′-Promoter and 3′-Terminal Ends of the Human Glypican 3 (GPC3) Gene

1997 • 31 citations

Extending the overlap of three congenital overgrowth syndromes

1997 • 31 citations

A clinical and molecular study of a patient with Simpson-Golabi-Behmel syndrome

1999 • 29 citations

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1999 • 21 citations

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Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with… (2000) – Human Molecular Genetics | Metascience Observatory Explorer