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Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation

2 Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada 3 Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, ...
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Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

Department of Pathology, State University of New York-Downstate Medical Center, Brooklyn, NY, USA ...
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Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene

Correspondence to Professor Orly Elpeleg, The Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem 91120, Israel; ...
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BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

6 Department of Clinical Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands 7 Department of Medical Genetics, University Medical Center Utrecht ...
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A clinical study of 57 children with fetal anticonvulsant syndromes

BACKGROUND Anticonvulsants taken in pregnancy are associated with an increased risk of malformations and developmental delay in the children. To evaluate the pattern of abnormalities associated with ...
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Letting the family know: balancing ethics and effectiveness when notifying relatives about genetic testing for a familial disorder

1 Familial Cancer Unit, South Australian Clinical Genetics Service, Department of Genetic Medicine, Children’s Youth and Women’s Health Service, North Adelaide, Australia 2 Department of Paediatrics, ...
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Online First

ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature ...
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Pancreatic cancer risk in Peutz-Jeghers syndrome patients: a large cohort study and implications for surveillance

1 Department of Gastroenterology & Hepatology, Erasmus MC University Medical Centre, Rotterdam, The Netherlands 2 Department of Pathology, Erasmus MC University Medical Centre, Rotterdam, The ...
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Familial vestibulocerebellar disorder maps to chromosome 13q31-q33: a new nystagmus locus

Purpose: To determine a gene locus for a family with a dominantly inherited vestibulocerebellar disorder characterised by early onset, but not congenital nystagmus. Design: Observational and ...
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Watson syndrome: is it a subtype of type 1 neurofibromatosis?

Over 20 years ago, Watson described three families with a condition characterised by pulmonary valvular stenosis, café au lait patches, and dull intelligence. Short stature is an additional feature of ...
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Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents

1 Laboratory of Cytochemistry and Cytometry, Department of Molecular Cell Biology, Leiden University Medical Centre, Leiden, Netherlands 2 Department of Human and Clinical Genetics, Leiden University ...
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Catalogue of inherited disorders found among the Irish Traveller population

Background Irish Travellers are an endogamous, nomadic, ethnic minority population mostly resident on the island of Ireland with smaller populations in Europe and the USA. High levels of consanguinity ...