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Recent Advances in Imprinting Disorders

Clinical genetics, 2017-01, Vol.91 (1), p.3-13

2017

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Evidence to Support the Clinical Utility of Prenatal Exome Sequencing in Evaluation of the Fetus with Congenital Anomalies: Scientific Impact Paper No. 64 [February] 2021

BJOG : an international journal of obstetrics and gynaecology, 2021-08, Vol.128 (9), p.e39-e50

2021

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Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?

BJOG : an international journal of obstetrics and gynaecology, 2022-01, Vol.129 (1), p.52-61

2022

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Imprinting and assisted reproductive technology

Human molecular genetics, 2005-04, Vol.14 (suppl-1), p.R133-R138

Maher, Eamonn R

2005

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Birt-Hogg-Dubé syndrome: diagnosis and management

The lancet oncology, 2009-12, Vol.10 (12), p.1199-1206

2009

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Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability

Human mutation, 2011-08, Vol.32 (8), p.921-929

2011

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Evidence to Support the Clinical Utility of Prenatal Exome Sequencing in Evaluation of the Fetus with Congenital Anomalies

BJOG : an international journal of obstetrics and gynaecology, 2021-08, Vol.128 (9), p.e39-e50

2021

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Assisted reproductive therapies and imprinting disorders—a preliminary British survey

Human reproduction (Oxford), 2006-04, Vol.21 (4), p.1009-1011

2006

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Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome

Journal of medical genetics, 2000-12, Vol.37 (12), p.921-926

2000

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Obesity, Aspirin, and Risk of Colorectal Cancer in Carriers of Hereditary Colorectal Cancer: A Prospective Investigation in the CAPP2 Study

Journal of clinical oncology, 2015-11, Vol.33 (31), p.3591-3597

2015

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Gene Mutations in the Succinate Dehydrogenase Subunit SDHB Cause Susceptibility to Familial Pheochromocytoma and to Familial Paraganglioma

American journal of human genetics, 2001-07, Vol.69 (1), p.49-54

2001

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Germline BHD-Mutation Spectrum and Phenotype Analysis of a Large Cohort of Families with Birt-Hogg-Dubé Syndrome

American journal of human genetics, 2005-06, Vol.76 (6), p.1023-1033

2005

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Beckwith-Wiedemann syndrome and assisted reproduction technology (ART)

Journal of medical genetics, 2003-01, Vol.40 (1), p.62-64

2003

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Genetic and epigenetic analysis of von hippel-lindau (VHL) gene alterations and relationship with clinical variables in sporadic renal cancer

Cancer research (Chicago, Ill.), 2006-02, Vol.66 (4), p.2000-2011

2006

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Beckwith-Wiedemann syndrome: imprinting in clusters revisited

The Journal of clinical investigation, 2000-02, Vol.105 (3), p.247-845

2000

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Effect of Aspirin or Resistant Starch on Colorectal Neoplasia in the Lynch Syndrome

The New England journal of medicine, 2008-12, Vol.359 (24), p.2567-2578

2008

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The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis

Nature (London), 1999-05, Vol.399 (6733), p.271-275

1999

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The pressure rises: update on the genetics of phaeochromocytoma

Human molecular genetics, 2002-10, Vol.11 (20), p.2347-2354

2002

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A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3

Nature genetics, 2008-05, Vol.40 (5), p.623-630

2008

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Epigenetic risks related to assisted reproductive technologies: Epigenetics, imprinting, ART and icebergs?

Human reproduction (Oxford), 2003-12, Vol.18 (12), p.2508-2511

2003

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Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH

The Lancet (British edition), 2003-07, Vol.362 (9377), p.39-41

2003

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S54 Automating the analysis of thoracic ct scans in cystic lung disease

Thorax, 2017-12, Vol.72 (Suppl 3), p.A35

2017

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Hypoxia Inducible Factor-α Binding and Ubiquitylation by the von Hippel-Lindau Tumor Suppressor Protein

The Journal of biological chemistry, 2000-08, Vol.275 (33), p.25733-25741

2000

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Von Hippel-Lindau disease

Current molecular medicine, 2004-12, Vol.4 (8), p.833-842

Maher, Eamonn R

2004

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Housekeeping proteins: A preliminary study illustrating some limitations as useful references in protein expression studies

Proteomics (Weinheim), 2005-02, Vol.5 (2), p.566-571

2005

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Recent Advances in Imprinting Disorders

Evidence to Support the Clinical Utility of Prenatal Exome Sequencing in Evaluation of the Fetus with Congenital Anomalies: Scientific Impact Paper No. 64 [February] 2021

Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?

Imprinting and assisted reproductive technology

Birt-Hogg-Dubé syndrome: diagnosis and management

Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability

Evidence to Support the Clinical Utility of Prenatal Exome Sequencing in Evaluation of the Fetus with Congenital Anomalies

Assisted reproductive therapies and imprinting disorders—a preliminary British survey

Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome

Obesity, Aspirin, and Risk of Colorectal Cancer in Carriers of Hereditary Colorectal Cancer: A Prospective Investigation in the CAPP2 Study

Gene Mutations in the Succinate Dehydrogenase Subunit SDHB Cause Susceptibility to Familial Pheochromocytoma and to Familial Paraganglioma

Germline BHD-Mutation Spectrum and Phenotype Analysis of a Large Cohort of Families with Birt-Hogg-Dubé Syndrome

Beckwith-Wiedemann syndrome and assisted reproduction technology (ART)

Genetic and epigenetic analysis of von hippel-lindau (VHL) gene alterations and relationship with clinical variables in sporadic renal cancer

Beckwith-Wiedemann syndrome: imprinting in clusters revisited

Effect of Aspirin or Resistant Starch on Colorectal Neoplasia in the Lynch Syndrome

The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis

The pressure rises: update on the genetics of phaeochromocytoma

A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3

Epigenetic risks related to assisted reproductive technologies: Epigenetics, imprinting, ART and icebergs?

Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH

S54 Automating the analysis of thoracic ct scans in cystic lung disease

Hypoxia Inducible Factor-α Binding and Ubiquitylation by the von Hippel-Lindau Tumor Suppressor Protein

Von Hippel-Lindau disease

Housekeeping proteins: A preliminary study illustrating some limitations as useful references in protein expression studies

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