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Gene-related cancer spectrum in families with hereditary non-polyposis colorectal cancer (HNPCC)

Familial cancer, 2008-06, Vol.7 (2), p.163-172

2008

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Unusual presentation of Lynch Syndrome

Hereditary cancer in clinical practice, 2009-06, Vol.7 (1), p.12-12, Article 12

2009

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Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems

American journal of medical genetics. Part A, 2011-05, Vol.155A (5), p.1192-1195

2011

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Contribution of cyclin d1 (CCND1) and E-cadherin (CDH1) polymorphisms to familial and sporadic colorectal cancer

Oncogene, 2002-03, Vol.21 (12), p.1928-1933

2002

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Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome

Familial cancer, 2012-09, Vol.11 (3), p.509-518

2012

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Development of a denaturing high-performance liquid chromatography screening method for SMAD4 in juvenile polyposis syndrome

Annals of clinical biochemistry, 2007-03, Vol.44 (Pt 2), p.159-163

2007

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Two novel polymorphisms (E277K and V212V) in the haemochromatosis gene HFE

Human mutation, 2000-01, Vol.15 (1), p.120-120

2000

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A novel missense mutation S65C in the HFE gene with a possible role in hereditary haemochromatosis

Human mutation, 1999, Vol.13 (6), p.507-508

1999

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Stickler syndrome: correlation between vitreoretinal phenotypes and linkage to COL 2A1

Eye (London), 1994-01, Vol.8 (6), p.609-614

1994

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A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in α1(XI) collagen

Human molecular genetics, 1996-09, Vol.5 (9), p.1339-1343

1996

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Contribution of cyclin d1 (CCND1) and E-cadherin (CDH1) polymorphisms to familial and sporadic colorectal cancer

Oncogene, 2002-03, Vol.21 (12), p.1928-1933

2002

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Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations

Journal of medical genetics, 1996-04, Vol.33 (4), p.328-332

1996

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Molecular analysis of de novo germline mutations in the von Hippel-Lindau disease gene

Human molecular genetics, 1995-11, Vol.4 (11), p.2139-2143

1995

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A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes

Journal of medical genetics, 1998-06, Vol.35 (6), p.472-475

1998

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Female Germline Mosaicism in Tuberous Sclerosis Confirmed by Molecular Genetic Analysis

Human molecular genetics, 1997-12, Vol.6 (13), p.2265-2269

1997

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Contribution of cyclin d1 polymorphisms to familial and sporadic colorectal cancer

Oncogene, 2002-03, Vol.21 (12), p.1928

2002

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Molecular genetic analysis of the 3p — syndrome

Human molecular genetics, 1994-06, Vol.3 (6), p.903-908

1994

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Direct, non-radioactive detection of mutations in Multiple Endocrine Neoplasia Type 2A families

Human molecular genetics, 1994-04, Vol.3 (4), p.643-646

1994

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A Family with Stickler Syndrome Type 2 Has a Mutation in the COL11A1 Gene Resulting in the Substitution of Glycine 97 by Valine in a1(XI) Collagen

Human molecular genetics, 1996-09, Vol.5 (9), p.1339-1343

1996

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Molecular diagnosis of genetic disease

American Journal of Medical Genetics, 1997, Vol.73 (1), p.102-103

Payne, Stewart J.

1997

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von Hippel-Lindau disease and familial polyposis coli in the same family

Archives of ophthalmology (1960), 1996-10, Vol.114 (10), p.1294

1996

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Development and validation of the African Women Awareness of CANcer (AWACAN) tool for breast and cervical cancer

PloS one, 2019-08, Vol.14 (8), p.e0220545-e0220545

2019

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Is polypharmacy always hazardous? A retrospective cohort analysis using linked electronic health records from primary and secondary care

British journal of clinical pharmacology, 2014-06, Vol.77 (6), p.1073-1082

2014

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Characteristics of GII.4 Norovirus Versus Other Genotypes in Sporadic Pediatric Infections in Davidson County, Tennessee, USA

Clinical infectious diseases, 2021-10, Vol.73 (7), p.e1525-e1531

2021

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Gene-related cancer spectrum in families with hereditary non-polyposis colorectal cancer (HNPCC)

Unusual presentation of Lynch Syndrome

Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems

Contribution of cyclin d1 (CCND1) and E-cadherin (CDH1) polymorphisms to familial and sporadic colorectal cancer

Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome

Development of a denaturing high-performance liquid chromatography screening method for SMAD4 in juvenile polyposis syndrome

Two novel polymorphisms (E277K and V212V) in the haemochromatosis gene HFE

A novel missense mutation S65C in the HFE gene with a possible role in hereditary haemochromatosis

Stickler syndrome: correlation between vitreoretinal phenotypes and linkage to COL 2A1

A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in α1(XI) collagen

Contribution of cyclin d1 (CCND1) and E-cadherin (CDH1) polymorphisms to familial and sporadic colorectal cancer

Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations

Molecular analysis of de novo germline mutations in the von Hippel-Lindau disease gene

A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes

Female Germline Mosaicism in Tuberous Sclerosis Confirmed by Molecular Genetic Analysis

Contribution of cyclin d1 polymorphisms to familial and sporadic colorectal cancer

Molecular genetic analysis of the 3p — syndrome

Direct, non-radioactive detection of mutations in Multiple Endocrine Neoplasia Type 2A families

A Family with Stickler Syndrome Type 2 Has a Mutation in the COL11A1 Gene Resulting in the Substitution of Glycine 97 by Valine in a1(XI) Collagen

Molecular diagnosis of genetic disease

von Hippel-Lindau disease and familial polyposis coli in the same family

Development and validation of the African Women Awareness of CANcer (AWACAN) tool for breast and cervical cancer

Is polypharmacy always hazardous? A retrospective cohort analysis using linked electronic health records from primary and secondary care

Characteristics of GII.4 Norovirus Versus Other Genotypes in Sporadic Pediatric Infections in Davidson County, Tennessee, USA

Respiratory Syncytial Virus-Associated Hospitalizations Among Young Children: 2015-2016

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