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Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12–q13.3
2 Division of Neurology, Marqués de Valdecilla University Hospital, University of Cantabria, Santander, Spain 3 Division of Neurology, University Hospital Antwerp (UZA), Antwerp, Belgium ...
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Two further cases of WHS with unbalanced de novo translocation t(4;8) characterised by CGH and FISH
aInstitute of Human Genetics, Charité, Campus Virchow-Klinikum, Humboldt-University, Institut für Humangenetik, Chromosomendiagnostik, Molekulare Zytogenetik, Augustenburger Platz 1, D-13353 Berlin, ...
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Genetics of congenital hypothyroidism
1 Department of Clinical Genetics, Addenbrooke’s Hospital, Cambridge, UK 2 Department of Medicine, University of Cambridge, Addenbrooke’s Hospital Correspondence to: Dr S M Park Department of Clinical ...
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Genetic heterogeneity of Usher syndrome type II.
Genetics Department, Boys Town National Research Hospital, Omaha, NE 68131. Usher syndrome is an autosomal recessive disorder characterised by retinitis pigmentosa and congenital sensorineural hearing ...
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Familial X-linked mental retardation with an X chromosome abnormality.
An X-linked pattern of transmission observed in four families with familial mental retardation in several generations was associated with a probable secondary constriction at the distal end of the q ...
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Sporadic vestibular schwannoma: a molecular testing summary
Correspondence to Professor D Gareth Evans, Clinical Genetics, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK; gareth.evans{at}mft.nhs.uk Objectives Cases of sporadic vestibular ...
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Contribution of large genomic rearrangements in PALB2 to familial breast cancer: implications for genetic testing
Background PALB2 is the most important contributor to familial breast cancer after BRCA1 and BRCA2 . Large genomic rearrangements (LGRs) in BRCA1 and BRCA2 are routinely assessed in clinical testing ...
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Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders
Professor B Franco, Telethon Institute of Genetics and Medicine (TIGEM), Via Pietro Castellino 111, 80131 Naples, Italy; franco{at}tigem.it If you wish to reuse any ...
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Treatment switch in Fabry disease- a matter of dose?
Correspondence to Professor Eva Brand, Internal Medicine D, Department of Nephrology, Hypertension and Rheumatology and Interdisciplinary Fabry Center Münster (IFAZ), University Hospital Münster, ...
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Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia
1 Paediatric Neurology Unit, Sheba Medical Centre, Ramat-Gan, Israel 2 Neuroradiology Unit, Sheba Medical Centre, Ramat-Gan, Israel 3 Metabolic-Neurogenetic Clinic, Paediatric Neurology Unit, Wolfson ...
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STIM1 in-frame deletion of eight amino acids in a patient with moderate tubular aggregate myopathy/Stormorken syndrome
Store-operated Ca2+ entry (SOCE) is a ubiquitous mechanism controlling Ca2+ homeostasis and relies on the reticular Ca2+ sensor STIM1 and the plasma membrane Ca2+ channel ORAI1. STIM1 and ORAI1 ...
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Gastrointestinal polyps in McCune Albright syndrome
1 Department of Endocrinology and Diabetes, Royal Children's Hospital, Melbourne, Australia 2 Department of Paediatrics, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, ...