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Investigating genotype-phenotype relationships in Rett syndrome using an international data set

Neurology, 2008-03, Vol.70 (11), p.868

2008

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Updating the profile of C-terminal MECP2 deletions in Rett syndrome

Journal of medical genetics, 2010-04, Vol.47 (4), p.242-248

2010

Volltextzugriff (PDF)

Towards a molecular characterization of autism spectrum disorders: an exome sequencing and systems approach

Translational psychiatry, 2014-06, Vol.4 (6), p.e394-e394

2014

Volltextzugriff (PDF)

Valproate and risk of fracture in Rett syndrome

Archives of disease in childhood, 2010-06, Vol.95 (6), p.444-448

2010

Volltextzugriff (PDF)

Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1

The Lancet (British edition), 1994-04, Vol.343 (8901), p.824-827

1994

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HFE mutations, iron deficiency and overload in 10 500 blood donors

British journal of haematology, 2001-08, Vol.114 (2), p.474-484

2001

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Early progressive encephalopathy in boys and MECP2 mutations

Neurology, 2006-07, Vol.67 (1), p.164

2006

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Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients

Journal of medical genetics, 2006-05, Vol.43 (5), p.451-456

2006

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Iron loading and morbidity among relatives of HFE C282Y homozygotes identified either by population genetic testing or presenting as patients

Gut, 2006-04, Vol.55 (4), p.554-562

2006

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What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?

Clinical genetics, 2012-12, Vol.82 (6), p.526-533

2012

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Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?

Journal of medical genetics, 2003-05, Vol.40 (5), p.e52-52

2003

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Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2

Journal of medical genetics, 2006-06, Vol.43 (6), p.470-477

2006

Volltextzugriff (PDF)

Development and Validation of a Family History Screening Questionnaire in Australian Primary Care

Annals of family medicine, 2014-05, Vol.12 (3), p.241-249

2014

Volltextzugriff (PDF)

Population based study of late onset cerebellar ataxia in south east Wales

Journal of neurology, neurosurgery and psychiatry, 2004-08, Vol.75 (8), p.1129-1134

2004

Volltextzugriff (PDF)

Automated mutation analysis

Journal of inherited metabolic disease, 1999-06, Vol.22 (4), p.503-518

Ravine, D.

1999

Volltextzugriff (PDF)

Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease

Nature genetics, 1993-12, Vol.5 (4), p.359-362

1993

Volltextzugriff (PDF)

Rett syndrome in Australia: A review of the epidemiology

The Journal of pediatrics, 2006-03, Vol.148 (3), p.347-352

2006

Volltextzugriff (PDF)

Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease

The Lancet (British edition), 1992-11, Vol.340 (8831), p.1330-1333

1992

Volltextzugriff (PDF)

Mortality in Women with Turner Syndrome in Great Britain: A National Cohort Study

The journal of clinical endocrinology and metabolism, 2008-12, Vol.93 (12), p.4735-4742

2008

Volltextzugriff (PDF)

70: Kinetics of bronchial epithelial chimerism after transplantation – a sex mis-match independent method

The Journal of heart and lung transplantation, 2007, Vol.26 (2), p.S85-S85

2007

Volltextzugriff (PDF)

MECP2 genomic structure and function: insights from ENCODE

Nucleic acids research, 2008-11, Vol.36 (19), p.6035

2008

Volltextzugriff (PDF)

Review article: Breaking new ground with Rett syndrome

Journal of intellectual disability research, 2003-11, Vol.47 (8), p.580-587

2003

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326: Circulating Stem Cells Engraft the Bronchial Epithelium in Humans after Lung Transplantation

The Journal of heart and lung transplantation, 2008, Vol.27 (2), p.S178-S178

2008

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Task specific focal dystonia: a presentation of spinocerebellar ataxia type 6

Journal of neurology, neurosurgery and psychiatry, 2003-10, Vol.74 (10), p.1444-1445

2003

Volltextzugriff (PDF)

A Spectrum of Mutations in the Second Gene for Autosomal Dominant Polycystic Kidney Disease (PKD2)

American journal of human genetics, 1997-09, Vol.61 (3), p.547-555

1997

Volltextzugriff (PDF)

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Investigating genotype-phenotype relationships in Rett syndrome using an international data set

Updating the profile of C-terminal MECP2 deletions in Rett syndrome

Towards a molecular characterization of autism spectrum disorders: an exome sequencing and systems approach

Valproate and risk of fracture in Rett syndrome

Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1

HFE mutations, iron deficiency and overload in 10 500 blood donors

Early progressive encephalopathy in boys and MECP2 mutations

Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients

Iron loading and morbidity among relatives of HFE C282Y homozygotes identified either by population genetic testing or presenting as patients

What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?

Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?

Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2

Development and Validation of a Family History Screening Questionnaire in Australian Primary Care

Population based study of late onset cerebellar ataxia in south east Wales

Automated mutation analysis

Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease

Rett syndrome in Australia: A review of the epidemiology

Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease

Mortality in Women with Turner Syndrome in Great Britain: A National Cohort Study

70: Kinetics of bronchial epithelial chimerism after transplantation – a sex mis-match independent method

MECP2 genomic structure and function: insights from ENCODE

Review article: Breaking new ground with Rett syndrome

326: Circulating Stem Cells Engraft the Bronchial Epithelium in Humans after Lung Transplantation

Task specific focal dystonia: a presentation of spinocerebellar ataxia type 6

A Spectrum of Mutations in the Second Gene for Autosomal Dominant Polycystic Kidney Disease (PKD2)

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