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Polymorphous lymphoproliferative disorder with Hodgkin-like features in common γ-chain–deficient severe combined immunodeficiency

Journal of allergy and clinical immunology, 2011-02, Vol.127 (2), p.533-535

2011

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Genotypes at the GluR6 Kainate Receptor Locus are Associated with Variation in the Age of Onset of Huntington Disease

Proceedings of the National Academy of Sciences - PNAS, 1997-04, Vol.94 (8), p.3872-3876

1997

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Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics laboratory records

Journal of medical genetics, 2023-07, Vol.60 (7), p.669

2023

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Non-invasive prenatal diagnosis of single gene disorders: How close are we?

Seminars in fetal & neonatal medicine, 2008-04, Vol.13 (2), p.76-83

2008

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What is the clinical utility of DNA testing in patients with familial hypercholesterolaemia?

Current opinion in lipidology, 2008-08, Vol.19 (4), p.362-368

2008

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A Controlled Psychiatric Study of Individuals at Risk for Huntington's Disease

British journal of psychiatry, 1994-10, Vol.165 (4), p.500-505

1994

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Multiplex ligation-dependent probe amplification analysis to screen for deletions and duplications of the LDLR gene in patients with familial hypercholesterolaemia

Clinical genetics, 2009-07, Vol.76 (1), p.69-75

2009

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Carrier Frequency of a Nonsense Mutation in the Adenosine Deaminase (ADA) Gene Implies a High Incidence of ADA‐deficient Severe Combined Immunodeficiency (SCID) in Somalia and a Single, Common Haplotype Indicates Common Ancestry

Annals of human genetics, 2007-05, Vol.71 (3), p.336-347

2007

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A double heterozygote for familial hypercholesterolaemia and familial defective apolipoprotein B-100

Annals of clinical biochemistry, 2010-09, Vol.47 (Pt 5), p.487

2010

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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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Polymorphous lymphoproliferative disorder with Hodgkin-like features in common [gamma]-chain-deficient severe combined immunodeficiency

Journal of allergy and clinical immunology, 2011-02, Vol.127 (2), p.533

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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Are both lipid phenotype and genotype needed for cascade genetic screening in FH families?

Atherosclerosis, 2007, Vol.194 (1), p.280-280

2007

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Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia

Clinical genetics, 2007-06, Vol.71 (6), p.561-568

2007

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Non-invasive prenatal diagnosis

Methods in molecular biology (Clifton, N.J.), 2011, Vol.688, p.155

2011

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A functional mutation in the LDLR promoter (-139C>G) in a patient with familial hypercholesterolemia

European journal of human genetics : EJHG, 2007-11, Vol.15 (11), p.1186-1189

2007

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Genetic Pathways of Colorectal Carcinogenesis Rarely Involve the PTEN and LKB1 Genes Outside the Inherited Hamartoma Syndromes

The American journal of pathology, 1998-08, Vol.153 (2), p.363-366

1998

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Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation

American journal of medical genetics. Part A, 2005-10, Vol.138A (3), p.278-281

2005

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The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation

Clinical dysmorphology, 2003-10, Vol.12 (4), p.269-274

2003

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Genetic Pathways of Colorectal Carcinogenesis Rarely Involve thePTEN and LKB1 Genes Outside the Inherited Hamartoma Syndromes

The American journal of pathology, 1998-08, Vol.153 (2), p.363-366

1998

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Male neonatal death and progressive weakness and immune deficiency in females: an unknown X linked condition

Journal of medical genetics, 1995-03, Vol.32 (3), p.191-196

1995

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Simplified method for the determination of plasma cotinine using gas chromatography-mass spectrometry

Journal of chromatography, 1987, Vol.414 (2), p.449-453

GAIL NORBURY, C

1987

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Specific molecular prenatal diagnosis for the CTG mutation in myotonic dystrophy

Journal of medical genetics, 1992-11, Vol.29 (11), p.785-788

1992

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LATE ONSET HUNTINGTON'S DISEASE AS A CAUSE OF DEMENTIA: WHERE SHOULD THE CLINICIAN'S INDEX OF SUSPICION LIE?

International journal of geriatric psychiatry, 1996-08, Vol.11 (8), p.729-733

1996

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Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation

American journal of medical genetics, 2005, Vol.138A (3), p.278-281

2005

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Polymorphous lymphoproliferative disorder with Hodgkin-like features in common γ-chain–deficient severe combined immunodeficiency

Genotypes at the GluR6 Kainate Receptor Locus are Associated with Variation in the Age of Onset of Huntington Disease

Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics laboratory records

Non-invasive prenatal diagnosis of single gene disorders: How close are we?

What is the clinical utility of DNA testing in patients with familial hypercholesterolaemia?

A Controlled Psychiatric Study of Individuals at Risk for Huntington's Disease

Multiplex ligation-dependent probe amplification analysis to screen for deletions and duplications of the LDLR gene in patients with familial hypercholesterolaemia

Carrier Frequency of a Nonsense Mutation in the Adenosine Deaminase (ADA) Gene Implies a High Incidence of ADA‐deficient Severe Combined Immunodeficiency (SCID) in Somalia and a Single, Common Haplotype Indicates Common Ancestry

A double heterozygote for familial hypercholesterolaemia and familial defective apolipoprotein B-100

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

Polymorphous lymphoproliferative disorder with Hodgkin-like features in common [gamma]-chain-deficient severe combined immunodeficiency

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

Are both lipid phenotype and genotype needed for cascade genetic screening in FH families?

Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia

Non-invasive prenatal diagnosis

A functional mutation in the LDLR promoter (-139C>G) in a patient with familial hypercholesterolemia

Genetic Pathways of Colorectal Carcinogenesis Rarely Involve the PTEN and LKB1 Genes Outside the Inherited Hamartoma Syndromes

Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation

The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation

Genetic Pathways of Colorectal Carcinogenesis Rarely Involve thePTEN and LKB1 Genes Outside the Inherited Hamartoma Syndromes

Male neonatal death and progressive weakness and immune deficiency in females: an unknown X linked condition

Simplified method for the determination of plasma cotinine using gas chromatography-mass spectrometry

Specific molecular prenatal diagnosis for the CTG mutation in myotonic dystrophy

LATE ONSET HUNTINGTON'S DISEASE AS A CAUSE OF DEMENTIA: WHERE SHOULD THE CLINICIAN'S INDEX OF SUSPICION LIE?

Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation

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