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Epigenotype–phenotype correlations in Silver–Russell syndrome

Journal of medical genetics, 2010-11, Vol.47 (11), p.760-768

2010

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Von Hippel-Lindau disease: a genetic study

Journal of medical genetics, 1991-07, Vol.28 (7), p.443-447

1991

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Mapping of a novel locus for achromatopsia (ACHM4) to 1 p and identification of a germline mutation in the α subunit of cone transducin (GNAT2)

Journal of medical genetics, 2002-09, Vol.39 (9), p.656-660

2002

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P10 Whole-exome-Sequencing-based discovery of novel syndromic form of neonatal cholestasis

Gut, 2011-09, Vol.60 (Suppl 2), p.A5-A5

2011

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The t(1;3) breakpoint-spanning genes LSAMP and NORE1 are involved in clear cell renal cell carcinomas

Cancer cell, 2003-11, Vol.4 (5), p.405-413

2003

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Statistical analysis of the two stage mutation model in von Hippel-Lindau disease, and in sporadic cerebellar haemangioblastoma and renal cell carcinoma

Journal of medical genetics, 1990-05, Vol.27 (5), p.311-314

1990

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OC11.09: Congenital heart disease and the diagnostic yield with exome sequencing (CODE Study): a prospective cohort study and systematic review

Ultrasound in obstetrics & gynecology, 2020-10, Vol.56 (S1), p.34-34

2020

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Von Hippel-Lindau disease

British Journal of Ophthalmology, 1992-12, Vol.76 (12), p.743-745

1992

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VP33.03: The diagnostic yield of prenatal genomic testing in congenital heart defects: a cohort study

Ultrasound in obstetrics & gynecology, 2020-10, Vol.56 (S1), p.194-194

2020

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Genetic linkage between Von Hippel—Lindau disease and three microsatellite polymorphisms refines the localisation of the VHL locus

Human molecular genetics, 1993-03, Vol.2 (3), p.279-282

1993

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Detailed genetic mapping of the von Hippel-Lindau disease tumour suppressor gene

Journal of medical genetics, 1993-02, Vol.30 (2), p.104-107

1993

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Molecular genetic investigations of the mechanism of tumourigenesis in von Hippel-Lindau disease : analysis of allele loss in VHL tumours

Human genetics, 1994, Vol.93 (1), p.53-58

1994

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Ophthalmological screening for von Hippel-Lindau disease

Eye (London), 1991, Vol.5 (6), p.723-728

1991

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Somatic NF2 gene mutations in familial and non-familial vestibular schwannoma

Human molecular genetics, 1994-02, Vol.3 (2), p.347-350

1994

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MET mutation and familial gastric cancer

Journal of medical genetics, 2001-08, Vol.38 (8), p.e26-26

2001

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Calcific aortic stenosis: a complication of chronic uraemia

Nephron (2015), 1987, Vol.47 (2), p.119

1987

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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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Presymptomatic diagnosis of von Hippel-Lindau disease with flanking DNA markers

Journal of medical genetics, 1992-12, Vol.29 (12), p.902-905

1992

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Oxalate Metabolism in End-Stage Renal Disease: the Effect of Ascorbic Acid and Pyridoxine

Nephrology, dialysis, transplantation, 1988, Vol.3 (1), p.28-32

1988

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Cyclosporin in the Treatment of Steroid-responsive and Steroid-resistant Nephrotic Syndrome in Adults

Nephrology, dialysis, transplantation, 1988, Vol.3 (6), p.728-732

1988

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Increased Free-Radical Activity During Haemodialysis?

Nephrology, dialysis, transplantation, 1987, Vol.2 (3), p.169-171

1987

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Germline mutation analysis of the transforming growth factor β receptor type II (TGFBR2) and E-cadherin (CDH1) genes in early onset and familial colorectal cancer

Journal of medical genetics, 2001-02, Vol.38 (2), p.e7-7

2001

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Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis: Prenatal CMA: cohort study and systematic review

Ultrasound in obstetrics & gynecology, 2013-06, Vol.41 (6), p.610-620

2013

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The RASSF8 candidate tumor suppressor inhibits cell growth and regulates the Wnt and NF-kappaB signaling pathways

Oncogene, 2010-07, Vol.29 (30), p.4307-4316

2010

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PF.09Chromosomal Microarray (CMA) Use For the Prenatal Detection of Chromosome Anomalies: Model-Based Health Economic Evaluation

Archives of disease in childhood. Fetal and neonatal edition, 2013-04, Vol.98 (Suppl 1), p.A7-A7

2013

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Epigenotype–phenotype correlations in Silver–Russell syndrome

Von Hippel-Lindau disease: a genetic study

Mapping of a novel locus for achromatopsia (ACHM4) to 1 p and identification of a germline mutation in the α subunit of cone transducin (GNAT2)

P10 Whole-exome-Sequencing-based discovery of novel syndromic form of neonatal cholestasis

The t(1;3) breakpoint-spanning genes LSAMP and NORE1 are involved in clear cell renal cell carcinomas

Statistical analysis of the two stage mutation model in von Hippel-Lindau disease, and in sporadic cerebellar haemangioblastoma and renal cell carcinoma

OC11.09: Congenital heart disease and the diagnostic yield with exome sequencing (CODE Study): a prospective cohort study and systematic review

Von Hippel-Lindau disease

VP33.03: The diagnostic yield of prenatal genomic testing in congenital heart defects: a cohort study

Genetic linkage between Von Hippel—Lindau disease and three microsatellite polymorphisms refines the localisation of the VHL locus

Detailed genetic mapping of the von Hippel-Lindau disease tumour suppressor gene

Molecular genetic investigations of the mechanism of tumourigenesis in von Hippel-Lindau disease : analysis of allele loss in VHL tumours

Ophthalmological screening for von Hippel-Lindau disease

Somatic NF2 gene mutations in familial and non-familial vestibular schwannoma

MET mutation and familial gastric cancer

Calcific aortic stenosis: a complication of chronic uraemia

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

Presymptomatic diagnosis of von Hippel-Lindau disease with flanking DNA markers

Oxalate Metabolism in End-Stage Renal Disease: the Effect of Ascorbic Acid and Pyridoxine

Cyclosporin in the Treatment of Steroid-responsive and Steroid-resistant Nephrotic Syndrome in Adults

Increased Free-Radical Activity During Haemodialysis?

Germline mutation analysis of the transforming growth factor β receptor type II (TGFBR2) and E-cadherin (CDH1) genes in early onset and familial colorectal cancer

Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis: Prenatal CMA: cohort study and systematic review

The RASSF8 candidate tumor suppressor inhibits cell growth and regulates the Wnt and NF-kappaB signaling pathways

PF.09Chromosomal Microarray (CMA) Use For the Prenatal Detection of Chromosome Anomalies: Model-Based Health Economic Evaluation

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