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Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations
Background Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes and enteropathy (MIRAGE) syndrome is a recently described congenital disorder caused by heterozygous ...
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The face of Smith-Magenis syndrome: a subjective and objective study
We report a study of 55 subjects with Smith-Magenis syndrome, aged 9 months to 35 years. Each person has been evaluated with an assessment of “gestalt” and detailed facial measurement, using ...
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The genetic basis of congenital hyperinsulinism
London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street, Hospital for Children NHS Trust, and The Institute of Child Health, University College London, London, UK Dr K Hussain, ...
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Lynch syndrome diagnostic testing pathways in endometrial cancers: a nationwide English registry-based study
Background For female patients with Lynch syndrome (LS), endometrial cancer (EC) is often their first cancer diagnosis. A ...
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Lay understanding of genetics: a test of a hypothesis.
Centre for Family Research, University of Cambridge, UK. There have been growing calls for more education in genetics for the public and in schools. However, studies of the public, school children, ...
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A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1α
Ms F Zahir, Medical Genetics Research Unit, University of British Columbia, Box 153, Children’s and Women’s Hospital, 4500 Oak Street, Vancouver, BC, Canada, V6H 3N1; farahz{at}interchange.ubc.ca The ...
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Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease
Drug Research and Medical Biotechnology, Fraunhofer Institute of Toxicology and Experimental Medicine, Nikolai-Fuchs-Strasse 1, D-30625 Hanover, Germany Correspondence to: J Borlak Drug Research and ...
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The first three mosaic cri du chat syndrome patients with two rearranged cell lines
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be ...
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A clinical study of patients with multiple isolated neurofibromas
aGenetics and Teratology Unit, Massachusetts General Hospital, Boston, MA, USA, bDepartments of Pathology and Neurosurgery, Massachusetts General Hospital, Boston, MA ...
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Whole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome: a real-world study
Background Silver-Russell syndrome (SRS) is an imprinting disorder characterised by prenatal and postnatal growth restriction, but its clinical features are non-specific and its differential diagnosis ...
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Comparison of X-chromosome inactivation patterns in multiple tissues from human females
Section of Medical Genetics and Molecular Medicine, Children’s Mercy Hospitals and Clinics and University of Missouri - Kansas City School of Medicine, Kansas City, Missouri, USA Dr M G Butler, ...
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A case of de novo interstitial deletion 3q.
A rare chromosome abnormality consisting of interstitial deletion 3q was found in a malformed girl. Chromosome analysis using G and Q banding showed deletion of bands 3q12----3q21: 46,XX,del(3)(pter-- ...