Mark Leppert

Human Imprinted Chromosomal Regions Are Historical Hot-Spots of Recombination (2006)

Ionel Sandovici, Sacha Kassovska-Bratinova, Joe E. Vaughan, Rae Stewart, Mark Leppert, Carmen Sapienza

Human recombination rates vary along the chromosomes as well as between the two sexes. There is growing evidence that epigenetic factors may have an important influence on recombination rates, as...

Human Imprinted Chromosomal Regions are Historical Hot-Spots of Recombination (2006)

Ionel Sandovici, Sacha Kassovska-Bratinova, Joe E Vaughan, Rae Stewart, Mark Leppert, Carmen Sapienza

Human recombination rates vary along the chromosomes as well as between the two sexes. There is growing evidence that epigenetic factors may have an important influence on recombination rates, as...

Ethnicity and Human Genetic Linkage Maps (2005)

Jorgenson, Eric, Tang, Hua, Gadde, Maya, Province, Mike, Leppert, Mark, Kardia, Sharon, ...

Human genetic linkage maps are based on rates of recombination across the genome. These rates in humans vary by the sex of the parent from whom alleles are inherited, by chromosomal position, and by...

Delineation of the Critical Interval of Bardet-Biedl Syndrome 1 (BBS1) to a Small Region of 11q13, through Linkage and Haplotype Analysis of 91 Pedigrees

Katsanis, Nicholas, Lewis, Richard A., Stockton, David W., Mai, Phuong M. T., Baird, Lisa, Beales, Philip L., ...

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous recessive disease characterized primarily by atypical retinitis pigmentosa, obesity, polydactyly, hypogenitalism, and mental retardation....

A frameshift polymorphism in P2X5 elicits an allogeneic cytotoxic T lymphocyte response associated with remission of chronic myeloid leukemia

Rijke, Björn De, Beekman, Jeffrey M., Otterud, Britt, Maas, Frans, Woestenenk, Rob, ...

Minor histocompatibility antigens (mHAgs) constitute the targets of the graft-versus-leukemia response after HLA-identical allogeneic stem cell transplantation. Here, we have used genetic linkage...

Human Imprinted Chromosomal Regions Are Historical Hot-Spots of Recombination

Sandovici, Ionel, Kassovska-Bratinova, Sacha, Vaughan, Joe E, Stewart, Rae, Leppert, Mark, Sapienza, Carmen

Human recombination rates vary along the chromosomes as well as between the two sexes. There is growing evidence that epigenetic factors may have an important influence on recombination rates, as...

Mutational analysis of patients with adenomatous polyposis: Identical inactivating mutations in unrelated individuals

Groden, Joanna, Gelbert, Lawrence, Thliveris, Andrew, Nelson, Lesa, Robertson, Margaret, Joslyn, Geoff, ...

Samples of constitutional DNA from 60 unrelated patients with adenomatous polyposis coli (APC) were examined for mutations in the APC gene. Five inactivating mutations were observed among 12...

Linkage of a variant or attenuated form of adenomatous polyposis coli to the adenomatous polyposis coli (APC) locus

Spirio, Lisa, Otterud, Brith, Stauffer, Dora, Lynch, Henry, Lynch, Patrick, Watson, Patrice, ...

Adenomatous polyps are an intermediate in the pathway to colon carcinoma. An inherited disorder, familial adenomatous polyposis coli (APC), is characterized by hundreds to thousands of adenomatous...

Further linkage data on cystic fibrosis: The utah study

White, Ray, Leppert, Mark, O'Connell, Peter, Nakamura, Yusuke, Woodward, Scott, Hoff, Mark, ...

We reported earlier complete linkage between cystic fibrosis and an RFLP of the met proto-oncogene revealed by the probe pmetH. Another clone, pmetD, detects another polymorphism with the TaqI...

Quantitative-Trait Loci Influencing Body-Mass Index Reside on Chromosomes 7 and 13: The National Heart, Lung, and Blood Institute Family Heart Study

Feitosa, Mary F., Borecki, Ingrid B., Rich, Stephen S., Arnett, Donna K., Sholinsky, Phyliss, Myers, Richard H., ...

Obesity is a risk factor for many chronic diseases, including glucose intolerance, lipid disorders, hypertension, and coronary heart disease. Even though the body-mass index (BMI) is a heterogeneous...

Ethnicity and Human Genetic Linkage Maps

Jorgenson, Eric, Tang, Hua, Gadde, Maya, Province, Mike, Leppert, Mark, Kardia, Sharon, ...

Human genetic linkage maps are based on rates of recombination across the genome. These rates in humans vary by the sex of the parent from whom alleles are inherited, by chromosomal position, and by...

Delineation of the Critical Interval of Bardet-Biedl Syndrome 1 (BBS1) to a Small Region of 11q13, through Linkage and Haplotype Analysis of 91 Pedigrees

Katsanis, Nicholas, Lewis, Richard A., Stockton, David W., Mai, Phuong M. T., Baird, Lisa, Beales, Philip L., ...

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous recessive disease characterized primarily by atypical retinitis pigmentosa, obesity, polydactyly, hypogenitalism, and mental retardation....

A frameshift polymorphism in P2X5 elicits an allogeneic cytotoxic T lymphocyte response associated with remission of chronic myeloid leukemia

Rijke, Björn De, Beekman, Jeffrey M., Otterud, Britt, Maas, Frans, Woestenenk, Rob, ...

Minor histocompatibility antigens (mHAgs) constitute the targets of the graft-versus-leukemia response after HLA-identical allogeneic stem cell transplantation. Here, we have used genetic linkage...

Human Imprinted Chromosomal Regions Are Historical Hot-Spots of Recombination

Sandovici, Ionel, Kassovska-Bratinova, Sacha, Vaughan, Joe E, Stewart, Rae, Leppert, Mark, Sapienza, Carmen

Human recombination rates vary along the chromosomes as well as between the two sexes. There is growing evidence that epigenetic factors may have an important influence on recombination rates, as...

Mutational analysis of patients with adenomatous polyposis: Identical inactivating mutations in unrelated individuals

Groden, Joanna, Gelbert, Lawrence, Thliveris, Andrew, Nelson, Lesa, Robertson, Margaret, Joslyn, Geoff, ...

Samples of constitutional DNA from 60 unrelated patients with adenomatous polyposis coli (APC) were examined for mutations in the APC gene. Five inactivating mutations were observed among 12...

Linkage of a variant or attenuated form of adenomatous polyposis coli to the adenomatous polyposis coli (APC) locus

Spirio, Lisa, Otterud, Brith, Stauffer, Dora, Lynch, Henry, Lynch, Patrick, Watson, Patrice, ...

Adenomatous polyps are an intermediate in the pathway to colon carcinoma. An inherited disorder, familial adenomatous polyposis coli (APC), is characterized by hundreds to thousands of adenomatous...

Further linkage data on cystic fibrosis: The utah study

White, Ray, Leppert, Mark, O'Connell, Peter, Nakamura, Yusuke, Woodward, Scott, Hoff, Mark, ...

We reported earlier complete linkage between cystic fibrosis and an RFLP of the met proto-oncogene revealed by the probe pmetH. Another clone, pmetD, detects another polymorphism with the TaqI...

Localization of the genetic defect in familial adenomatous polyposis within a small region of chromosome 5

Nakamura, Yusuke, Lathrop, Mark, Leppert, Mark, Dobbs, Marc, Wasmuth, John, Wolff, Erica, ...

Familial adenomatous polyposis (FAP), a Mendelian disorder that includes familial polyposis coli (FPC) and Gardner syndrome (GS), has an autosomal dominant mode of inheritance. It is characterized by...

Localization of the genetic defect in multiple endocrine neoplasia type 1 within a small region of chromosome 11

Nakamura, Yusuke, Larsson, Catharina, Julier, Cecile, Byström, Camilla, Skogseid, Britt, Wells, Samuel, ...

Multiple endocrine neoplasia type 1 (MEN-1), a Mendelian disorder with an autosomal dominant mode of inheritance, causes hyperplasia in the parathyroid glands and hyperplasia or neoplasm in the...