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High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing
Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain Correspondence to Dr Francisco Martínez, PhD, Unidad de Genetica, Hospital Universitario y Politecnico La Fe, Valencia ...
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Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood
Background Dandy-Walker malformation features agenesis/hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle and enlargement of posterior fossa. Although Dandy-Walker ...
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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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Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndrome
Department of Medicine, University of Washington School of Medicine, Seattle, WA, USA Correspondence to: Dr V P Sybert, Box 356524, Division of Dermatology, University of Washington School of Medicine ...
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Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes
1 National Human Genome Research Institute, National Institutes of Health, Bldg 49, Room 4B75, 49 Convent Drive, Bethesda, MD 20892-4472, USA 2 Department of Medical Genetics, Children’s National ...
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Criteria and prediction models for mismatch repair gene mutations: a review
One of the strongest predictors of colorectal cancer risk is carrying a germline mutation in a DNA mismatch repair (MMR) gene. Once identified, mutation carriers can be recommended for intensive ...
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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 ...
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Prenatal diagnosis of genetic disorders.
Three hundred and fifty pregnancies were monitored by transabdominal amniocentesis in the fourteenth to sixteenth week of gestation followed by karyotyping or biochemica assays of cultured amniotic ...
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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 ...
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Neonatal spinal muscular atrophy with diaphragmatic paralysis is unlinked to 5q11.2-q13.
Two sibs affected by the severe neonatal form of spinal muscular atrophy (SMA) with diaphragmatic paralysis are described. The two sibs were discordant for the haplotypes determined by DNA markers ...
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Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1
1 Department of Pediatrics, University of California, San Francisco, 533 Parnassus St, Room U585P, San Francisco, CA 94143-0748, USA 2 Comprehensive Cancer Center, Box 0808, University of California, ...