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In Vitro Fertilization with Preimplantation Genetic Screening

The New England journal of medicine, 2007-07, Vol.357 (1), p.9-17

2007

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RET-familial medullary thyroid carcinoma mutants Y791F and S891A activate a Src/JAK/STAT3 pathway, independent of glial cell line-derived neurotrophic factor

Cancer research (Chicago, Ill.), 2005-03, Vol.65 (5), p.1729-1737

2005

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A role for MLH3 in hereditary nonpolyposis colorectal cancer

Nature genetics, 2001-10, Vol.29 (2), p.137-138

2001

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Persistent failures in gene repair

Nature biotechnology, 2001-04, Vol.19 (4), p.305-306

2001

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Determination of TP53 Mutation Is More Relevant Than Microsatellite Instability Status for the Prediction of Disease-Free Survival in Adjuvant-Treated Stage III Colon Cancer Patients

Journal of clinical oncology, 2005-08, Vol.23 (24), p.5635-5643

2005

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Severe Myocardial Fibrosis Caused by a Deletion of the 5’ End of the Lamin A/C Gene

Journal of the American College of Cardiology, 2007-06, Vol.49 (25), p.2430-2439

2007

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Toward New Strategies to Select Young Endometrial Cancer Patients for Mismatch Repair Gene Mutation Analysis

Journal of clinical oncology, 2003-12, Vol.21 (23), p.4364-4370

2003

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Telomeres, Telomerase, and Cancer

The New England journal of medicine, 2000-04, Vol.342 (17), p.1282-1283

Buys, Charles H.C.M

2000

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Deletions of the Short Arm of Chromosome 3 in Solid Tumors and the Search for Suppressor Genes

Advances in Cancer Research, 1997, Vol.71, p.27-92

1997

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Identifying Candidate Hirschsprung Disease–Associated RET Variants

American journal of human genetics, 2005-05, Vol.76 (5), p.850-858

2005

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Analysis of a new homozygous deletion in the tumor suppressor region at 3p12.3 reveals two novel intronic noncoding RNA genes

Genes chromosomes & cancer, 2006-07, Vol.45 (7), p.676-691

2006

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A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)

Nature genetics, 1996-04, Vol.12 (4), p.445-447

1996

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Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations

Human mutation, 2003-04, Vol.21 (4), p.447-447

2003

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DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients

Human mutation, 2004-01, Vol.23 (1), p.57-66

2004

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MLH1 and MSH2 protein expression as a pre‐screening marker in hereditary and non‐hereditary endometrial hyperplasia and cancer

International journal of cancer, 2001-05, Vol.92 (3), p.398-403

2001

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Isolation of the Human Semaphorin III/F Gene (SEMA3F) at Chromosome 3p21, a Region Deleted in Lung Cancer

Genomics (San Diego, Calif.), 1996-02, Vol.32 (1), p.39-48

1996

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RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems

Human mutation, 2000, Vol.15 (5), p.418-429

2000

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Mutations in Hirschsprung Disease: When Does a Mutation Contribute to the Phenotype

European journal of human genetics : EJHG, 1997-07, Vol.5 (4), p.180-185

1997

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Application of a comprehensive subtelomere array in clinical diagnosis of mental retardation

European journal of medical genetics, 2005-07, Vol.48 (3), p.250-262

2005

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Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome

Human mutation, 2002-09, Vol.20 (3), p.236-236

2002

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First-trimester use of paroxetine and congenital heart defects: A population-based case-control study

Birth defects research. A Clinical and molecular teratology, 2010-02, Vol.88 (2), p.94-100

2010

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Molecular and Clinical Characteristics of MSH6 Variants: An Analysis of 25 Index Carriers of a Germline Variant

American journal of human genetics, 2002-01, Vol.70 (1), p.26-37

2002

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A Human Model for Multigenic Inheritance: Phenotypic Expression in Hirschsprung Disease Requires Both the RET Gene and a New 9q31 Locus

Proceedings of the National Academy of Sciences - PNAS, 2000-01, Vol.97 (1), p.268-273

2000

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Association of Hereditary Nonpolyposis Colorectal Cancer–Related Tumors Displaying Low Microsatellite Instability with MSH6 Germline Mutations

American journal of human genetics, 1999-11, Vol.65 (5), p.1291-1298

1999

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Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypes

Human mutation, 2000-04, Vol.15 (4), p.381-381

2000

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In Vitro Fertilization with Preimplantation Genetic Screening

RET-familial medullary thyroid carcinoma mutants Y791F and S891A activate a Src/JAK/STAT3 pathway, independent of glial cell line-derived neurotrophic factor

A role for MLH3 in hereditary nonpolyposis colorectal cancer

Persistent failures in gene repair

Determination of TP53 Mutation Is More Relevant Than Microsatellite Instability Status for the Prediction of Disease-Free Survival in Adjuvant-Treated Stage III Colon Cancer Patients

Severe Myocardial Fibrosis Caused by a Deletion of the 5’ End of the Lamin A/C Gene

Toward New Strategies to Select Young Endometrial Cancer Patients for Mismatch Repair Gene Mutation Analysis

Telomeres, Telomerase, and Cancer

Deletions of the Short Arm of Chromosome 3 in Solid Tumors and the Search for Suppressor Genes

Identifying Candidate Hirschsprung Disease–Associated RET Variants

Analysis of a new homozygous deletion in the tumor suppressor region at 3p12.3 reveals two novel intronic noncoding RNA genes

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)

Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations

DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients

MLH1 and MSH2 protein expression as a pre‐screening marker in hereditary and non‐hereditary endometrial hyperplasia and cancer

Isolation of the Human Semaphorin III/F Gene (SEMA3F) at Chromosome 3p21, a Region Deleted in Lung Cancer

RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems

Mutations in Hirschsprung Disease: When Does a Mutation Contribute to the Phenotype

Application of a comprehensive subtelomere array in clinical diagnosis of mental retardation

Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome

First-trimester use of paroxetine and congenital heart defects: A population-based case-control study

Molecular and Clinical Characteristics of MSH6 Variants: An Analysis of 25 Index Carriers of a Germline Variant

A Human Model for Multigenic Inheritance: Phenotypic Expression in Hirschsprung Disease Requires Both the RET Gene and a New 9q31 Locus

Association of Hereditary Nonpolyposis Colorectal Cancer–Related Tumors Displaying Low Microsatellite Instability with MSH6 Germline Mutations

Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypes

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