News

jmg.bmj7d
Ending nuclear weapons, before they end us
This May, the World Health Assembly (WHA) will vote on re-establishing a mandate for the WHO to address the health consequences of nuclear weapons and war.1 Health professionals and their associations ...
jmg.bmj3d
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 ...
jmg.bmj4d
Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders
4 Department of Pediatrics, Korea University College of Medicine, Seoul, Korea Correspondence to Dr Si Houn Hahn, Department of Pediatrics, University of Washington School of Medicine, Seattle ...
jmg.bmj7d
Angelman syndrome: a review of the clinical and genetic aspects
Angelman syndrome ( AS) is a neurodevelopmental disorder characterised by severe learning difficulties, ataxia, a seizure disorder with a characteristic EEG, subtle dysmorphic facial features, and a ...
jmg.bmj3d
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; ...
jmg.bmj3d
The relationship between neonatal immunoreactive trypsinogen, ΔF508, and IVS8-5T
* Department of Respiratory Medicine, Royal Children's Hospital, Parkville, Victoria 3052, Australia † DNA Diagnostic Laboratory, Victorian Clinical Genetics Service, Royal Children's Hospital, ...
jmg.bmj8d
Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies.
Abteilung Medizinische Genetik, Altonaer Kinderkrankenhaus, Hamburg, Federal Republic of Germany. We present a male infant with hypertelorism, median pseudo-cleft of the upper lip and cleft palate, ...
jmg.bmj5d
Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease.
Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U-393, IFREM, Institut Necker, Hôpital des Enfants-Malades, Paris, France. Spinal muscular atrophy (SMA) is characterised by ...
jmg.bmj6d
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals
Objectives Speech and language impairments are core features of the neurodevelopmental genetic condition Kleefstra syndrome. Communication has not been systematically examined to guide intervention ...
jmg.bmj6d
Deletion of the 3q26 region including the EVI1 and MDS1 genes in a neonate with congenital thrombocytopenia and subsequent aplastic anaemia
1 Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands 2 Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands 3 Department ...
jmg.bmj5d
Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome
Cohen syndrome is a rare, recessively inherited condition associated with facial dysmorphism, developmental delay, and visual disability. A delay in making the diagnosis commonly occurs, contributed ...
jmg.bmj8d
The molecular genetics of Marfan syndrome and related microfibrillopathies
a Laboratory of Paediatric Molecular Biology, Department of General Paediatrics, Charité University Hospital, Humboldt University, D-10098 Berlin, Germany, b Department of Pediatrics and Munroe Center ...