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Birth incidence and prevalence of tumor-prone syndromes: Estimates from a UK family genetic register service

American journal of medical genetics. Part A, 2010-02, Vol.152A (2), p.327-332

2010

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Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only

EBioMedicine, 2016-05, Vol.7 (C), p.212-220

2016

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Forearm muscle and bone parameters in pre-pubertal children with neurofibromatosis type 1 (NF1)

Bone (New York, N.Y.), 2009-07, Vol.45, p.S61-S61

2009

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Reduced spinal bone mineral density (BMD) in pre-pubertal children with neurofibromatosis type 1 (NF1)

Bone (New York, N.Y.), 2009-07, Vol.45, p.S68-S69

2009

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An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phenotype Correlation

American journal of human genetics, 2007-01, Vol.80 (1), p.140-151

2007

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Analysis of limb reduction defects in babies exposed to chorionic villus sampling

The Lancet (British edition), 1994-04, Vol.343 (8905), p.1069-1071

1994

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The Neurofibromatoses: Classification, Clinical Features and Genetic Counselling

2008

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An analysis of variation in expression of neurofibromatosis (NF) type I (NFI): Evidence for modifying genes

American journal of human genetics, 1993, Vol.53 (2), p.305-313

1993

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Arthrogryposis multiplex congenita with maternal autoantibodies specific for a fetal antigen

The Lancet (British edition), 1995-07, Vol.346 (8966), p.24-25

1995

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Severe limb abnormalities after chorion villus sampling at 56-66 days' gestation

The Lancet (British edition), 1991-03, Vol.337 (8744), p.762-763

1991

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Pigmentary anomalies in ataxia–telangiectasia: a clue to diagnosis and an example of twin spotting

British journal of dermatology (1951), 2001-02, Vol.144 (2), p.369-371

2001

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RE: VON HIPPEL-LINDAU DISEASE: RENAL TUMORS LESS THAN 3 CM. CAN METASTASIZE

The Journal of urology, 2001-11, Vol.166 (5), p.1837-1837

2001

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171 Clinical presentations of neurofibromatosis type 2 (NF2) in childhood

European journal of paediatric neurology, 1999, Vol.3 (6), p.A66-A66

1999

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Re: von Hippel-Lindau disease: renal tumors less than 3 cm. can metastasize

The Journal of urology, 2001-11, Vol.166 (5), p.1837-1837

2001

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170 Segmental/mosaic neurofibromatosis type 1 (NF1): A clinical study

European journal of paediatric neurology, 1999, Vol.3 (6), p.A66-A67

1999

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The Phakomatoses

Reference Module in Biomedical Research, 2014

2014

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Prenatal, presymptomatic, and diagnostic testing with direct mutation analysis in Huntington's disease

The Lancet (British edition), 1994-02, Vol.343 (8895), p.487-488

1994

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Teratogen update: Maternal myasthenia gravis as a cause of congenital arthrogryposis

Teratology (Philadelphia), 2000-11, Vol.62 (5), p.332-341

2000

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Limb abnormalities and chorion villus sampling

The Lancet (British edition), 1991-07, Vol.338 (8758), p.51-51

1991

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What's new in neurofibromatosis?

Current paediatrics, 1997-09, Vol.7 (3), p.167-176

1997

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The apolipoprotein CII gene: subchromosomal localisation and linkage to the myotonic dystrophy locus

Human genetics, 1985-01, Vol.70 (3), p.271-273

1985

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Absence of linkage of hereditary motor and sensory neuropathy type I to chromosome 1 markers

Genomics (San Diego, Calif.), 1989-02, Vol.4 (2), p.192-197

1989

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Regional localisations and linkage relationships of seven RFLPs and myotonic dystrophy on chromosome 19

Human genetics, 1986-11, Vol.74 (3), p.262-266

1986

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Linkage relationships of the insulin receptor gene with the complement component 3, LDL receptor, apolipoprotein C2 and myotonic dystrophy loci on chromosome 19

Human genetics, 1986-11, Vol.74 (3), p.267-269

1986

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Pigmentary anomalies in ataxia-telangiectasia: a clue to diagnosis and an example of twin spotting

British Journal of Dermatology, 2001, Vol.144 (2), p.369-371

2001

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Birth incidence and prevalence of tumor-prone syndromes: Estimates from a UK family genetic register service

Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only

Forearm muscle and bone parameters in pre-pubertal children with neurofibromatosis type 1 (NF1)

Reduced spinal bone mineral density (BMD) in pre-pubertal children with neurofibromatosis type 1 (NF1)

An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phenotype Correlation

Analysis of limb reduction defects in babies exposed to chorionic villus sampling

The Neurofibromatoses: Classification, Clinical Features and Genetic Counselling

An analysis of variation in expression of neurofibromatosis (NF) type I (NFI): Evidence for modifying genes

Arthrogryposis multiplex congenita with maternal autoantibodies specific for a fetal antigen

Severe limb abnormalities after chorion villus sampling at 56-66 days' gestation

Pigmentary anomalies in ataxia–telangiectasia: a clue to diagnosis and an example of twin spotting

RE: VON HIPPEL-LINDAU DISEASE: RENAL TUMORS LESS THAN 3 CM. CAN METASTASIZE

171 Clinical presentations of neurofibromatosis type 2 (NF2) in childhood

Re: von Hippel-Lindau disease: renal tumors less than 3 cm. can metastasize

170 Segmental/mosaic neurofibromatosis type 1 (NF1): A clinical study

The Phakomatoses

Prenatal, presymptomatic, and diagnostic testing with direct mutation analysis in Huntington's disease

Teratogen update: Maternal myasthenia gravis as a cause of congenital arthrogryposis

Limb abnormalities and chorion villus sampling

What's new in neurofibromatosis?

The apolipoprotein CII gene: subchromosomal localisation and linkage to the myotonic dystrophy locus

Absence of linkage of hereditary motor and sensory neuropathy type I to chromosome 1 markers

Regional localisations and linkage relationships of seven RFLPs and myotonic dystrophy on chromosome 19

Linkage relationships of the insulin receptor gene with the complement component 3, LDL receptor, apolipoprotein C2 and myotonic dystrophy loci on chromosome 19

Pigmentary anomalies in ataxia-telangiectasia: a clue to diagnosis and an example of twin spotting

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