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Dive into the research topics where Sal LaForgia is active.

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Featured researches published by Sal LaForgia.


Human Genetics | 1993

Von Hippel-Lindau disease: identification of deletion mutations by pulsed-field gel electrophoresis

Masahiro Yao; Farida Latif; Mary Lou Orcutt; Igor Kuzmin; Thomas Stackhouse; Fang wei Zhou; Kalman Tory; Fuh Mei Duh; Frances M. Richards; Eamonn R. Maher; Sal LaForgia; Kay Huebner; Denis Le Pasilier; Marston Linehan; Michael I. Lerman; Berton Zbar

Von Hippel-Lindau disease (VHL) is an inherited multisystem neoplastic disorder. We prepared a 2.5-megabase (Mb) restriction map of the region surrounding the VHL gene and identified and characterized overlapping deletions in three unrelated patients affected with VHL. The smallest nested deletion (100 kb) was located within a 510-kb NruI fragment detected by 19–63′. The rearrangements detected will be useful in isolating and evaluating candidate cDNAs for the VHL gene. The detailed physical map will be useful in studying the organization and structure of genes in the VHL region.


Human Genetics | 1993

Chromosomal localization of four human zinc finger cDNAs

Kay Huebner; Teresa Druck; Sal LaForgia; Jerzy Lasota; Carlo M. Croce; Luisa Lanfrancone; Emilio Donti; Gina Pengue; Girolama La Mantia; Pier Giuseppe Pelicci; Luigi Lania

AbstractcDNA clones encoding zinc finger motifs were isolated by screening human placenta and T-cell (Peer) cDNA libraries with zinc finger (ZNF) consensus sequences. Unique cDNA clones were mapped in the human genome by rodent-human somatic cell hybrid analysis and in some cases in situ chromosomal hybridization. ZNF 80 mapped to 3p12-3qter, ZNF 7 was previously mapped to 8q24 and is here shown by in situ hybridization and use of appropriate hybrids to map telomeric to the MYC locus. ZNF 79 mapped to 9q34 centromeric to the ABL gene and between a constitutional chromosomal translocation on the centromeric side and the CML specific ABL translocation on the telomeric side. ZNF77 mapped to 19p while ZNF 78L1 (pT3) mapped to 19q. Chromosome 19 carries many ZNF loci and other genes with zinc finger encoding motifs; the pT3 clone additionally detected a locus designated ZNF 78L2, which mapped to chromosome region 1p, most likely in the region 1p32 where the MYCL and JUN loci map.


Proceedings of the National Academy of Sciences of the United States of America | 1991

Receptor protein-tyrosine phosphatase gamma is a candidate tumor suppressor gene at human chromosome region 3p21

Sal LaForgia; B Morse; Joan B. Levy; Gilad Barnea; L A Cannizzaro; F Li; P C Nowell; Leslie Boghosian-Sell; J Glick; A Weston


Cancer Research | 1995

Loss of heterozygosity at the familial RCC t(3;8) locus in most clear cell renal carcinomas

Teresa Druck; Kumar Kastury; Piotr Hadaczek; Jacek Podolski; Aleksandra Tołoczko; Andrzej Sikorski; Masataka Ohta; Sal LaForgia; Jerzy Lasota; Peter McCue; Jan Lubinski; Kay Huebner


Human Molecular Genetics | 1995

Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen

Angela M. Christiano; Julia Yu-Yun Lee; Wei J. Chen; Sal LaForgia; Jouni Uitto


Journal of Investigative Dermatology | 2001

Papillon-Lefèvre syndrome: mutations and polymorphisms in the cathepsin C gene.

Aoi Nakano; Hajime Nakano; Sal LaForgia; Leena Pulkkinen; Jouni Uitto; Kazuo Nomura; Yoshio Ono; Isao Hashimoto


Molecular Medicine | 1996

Prenatal Diagnosis for Recessive Dystrophic Epidermolysis Bullosa in 10 Families by Mutation and Haplotype Analysis in the Type VII Collagen Gene (COL7A1)

Angela M. Christiano; Sal LaForgia; Amy S. Paller; Joseph McGuire; Hiroshi Shimizu; Jouni Uitto


Cancer Research | 1995

Characterization of the Receptor Protein Tyrosine Phosphatase Gene Product PTPγ: Binding and Activation by Triphosphorylated Nucleosides

Claudio Sorio; Jeannine Mendrola; Zhuangwei Lou; Sal LaForgia; Carlo M. Croce; Kay Huebner


Cancer Research | 1993

Detailed Genetic and Physical Map of the 3p Chromosome Region Surrounding the Familial Renal Cell Carcinoma Chromosome Translocation, t(3;8)(p14.2;q24.1)

Sal LaForgia; Jerzy Lasota; Farida Latif; Leslie Boghosian-Sell; Kumar Kastury; Masataka Ohta; Teresa Druck; Lakshmi Atchison; Linda A. Cannizzaro; Gilad Barnea; Joseph Schlessinger; William S. Modi; Igor Kuzmin; Kalman Tory; Berton Zbar; Carlo M. Croce; Michael I. Lerman; Kay Huebner


Journal of Investigative Dermatology | 2000

Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy.

Fatima Rouan; Leena Pulkkinen; Guerrino Meneguzzi; Sal LaForgia; Patrice Hyde; Dae Un Kim; Gabriele Richard; Jouni Uitto

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Jouni Uitto

Thomas Jefferson University

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Farida Latif

University of Birmingham

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Berton Zbar

National Institutes of Health

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Jerzy Lasota

Thomas Jefferson University

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Kumar Kastury

Thomas Jefferson University

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Masataka Ohta

Thomas Jefferson University

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