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Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

Nature genetics, 2006-08, Vol.38 (8), p.910-916

2006

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PMS2 Mutations in Childhood Cancer

JNCI : Journal of the National Cancer Institute, 2006-03, Vol.98 (5), p.358-361

2006

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Maj Hultén

BMJ (Online), 2024-08, p.q1872

2024

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Iron overload in the Asian community

Blood, 2009-07, Vol.114 (1), p.20-25

2009

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An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function

Development (Cambridge), 2003-04, Vol.130 (8), p.1701-1712

2003

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A Germline Mutation in BLOC1S3/ Reduced Pigmentation Causes a Novel Variant of Hermansky-Pudlak Syndrome (HPS8)

American journal of human genetics, 2006-01, Vol.78 (1), p.160-166

2006

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Mutations in the human Delta homologue, DLL3 , cause axial skeletal defects in spondylocostal dysostosis

Nature genetics, 2000-04, Vol.24 (4), p.438-441

2000

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Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition

Journal of medical genetics, 1999-01, Vol.36 (1), p.14-20

1999

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Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction

Cancer research (Chicago, Ill.), 2010-12, Vol.70 (23), p.9742-9754

2010

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PPIB Mutations Cause Severe Osteogenesis Imperfecta

American journal of human genetics, 2009-10, Vol.85 (4), p.521-527

2009

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Mutations that Cause Osteoglophonic Dysplasia Define Novel Roles for FGFR1 in Bone Elongation

American journal of human genetics, 2005-02, Vol.76 (2), p.361-367

2005

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Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

Human molecular genetics, 2011-08, Vol.20 (16), p.3304-3321

2011

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Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

Human molecular genetics, 2009-11, Vol.18 (22), p.4442-4456

2009

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Obituaries: Biddy Davidson Bourhill

BMJ. British medical journal (International ed.), 2003-01, Vol.326 (7381), p.167

McKeown, Carole

International edition, 2003

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Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers

Human molecular genetics, 2010-07, Vol.19 (14), p.2886-2897

2010

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Germline E-cadherin Gene (CDH1) Mutations Predispose to Familial Gastric Cancer and Colorectal Cancer

Human molecular genetics, 1999-04, Vol.8 (4), p.607-610

1999

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Genetic Variation at 9p22.2 and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers

JNCI : Journal of the National Cancer Institute, 2011-01, Vol.103 (2), p.105-116

2011

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Age at Menarche and Menopause and Breast Cancer Risk in the International BRCA1/2 Carrier Cohort Study

Cancer epidemiology, biomarkers & prevention, 2007-04, Vol.16 (4), p.740-746

2007

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Association of the Variants CASP8 D302H and CASP10 V410I with Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Cancer epidemiology, biomarkers & prevention, 2010, Vol.19 (11), p.2859-2868

2010

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FG syndrome, an X-linked multiple congenital anomaly syndrome: The clinical phenotype and an algorithm for diagnostic testing

Genetics in medicine, 2009-11, Vol.11 (11), p.769-775

2009

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Mosaic trisomy 1q: The longest surviving case

American journal of medical genetics. Part A, 2009-08, Vol.149A (8), p.1795-1800

2009

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Familial multiple pterygium syndrome (MPS) is not associated with CHRNG gene mutation

American journal of medical genetics. Part A, 2007-05, Vol.143A (10), p.1129-1129

2007

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Phenotypic Variability and Asymmetry of Rieger Syndrome Associated with PITX2 Mutations

Investigative ophthalmology & visual science, 2000-08, Vol.41 (9), p.2456-2460

2000

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Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2

British journal of cancer, 2011-04, Vol.104 (8), p.1356-1361

2011

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Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA)

British journal of cancer, 2009, Vol.101 (12), p.2048-2054

2009

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Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

PMS2 Mutations in Childhood Cancer

Maj Hultén

Iron overload in the Asian community

An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function

A Germline Mutation in BLOC1S3/ Reduced Pigmentation Causes a Novel Variant of Hermansky-Pudlak Syndrome (HPS8)

Mutations in the human Delta homologue, DLL3 , cause axial skeletal defects in spondylocostal dysostosis

Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition

Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction

PPIB Mutations Cause Severe Osteogenesis Imperfecta

Mutations that Cause Osteoglophonic Dysplasia Define Novel Roles for FGFR1 in Bone Elongation

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

Obituaries: Biddy Davidson Bourhill

Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers

Germline E-cadherin Gene (CDH1) Mutations Predispose to Familial Gastric Cancer and Colorectal Cancer

Genetic Variation at 9p22.2 and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers

Age at Menarche and Menopause and Breast Cancer Risk in the International BRCA1/2 Carrier Cohort Study

Association of the Variants CASP8 D302H and CASP10 V410I with Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

FG syndrome, an X-linked multiple congenital anomaly syndrome: The clinical phenotype and an algorithm for diagnostic testing

Mosaic trisomy 1q: The longest surviving case

Familial multiple pterygium syndrome (MPS) is not associated with CHRNG gene mutation

Phenotypic Variability and Asymmetry of Rieger Syndrome Associated with PITX2 Mutations

Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2

Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA)

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