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Intranasal insulin to improve developmental delay in children with 22q13 deletion syndrome: an exploratory clinical trial
Department of Paediatric Endocrinology and Medical Genetics, Dr. von Hauner Children’s Hospital, University of Munich, Lindwurmstr. 4, 80337 Munich/Germany Background: The 22q13 deletion syndrome ...
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Integrating a Polygenic Risk Score into a clinical setting would impact risk predictions in familial breast cancer
Background Low-impact genetic variants identified in population-based genetic studies are not routinely measured as part of clinical genetic testing in familial breast cancer (BC). We studied the ...
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The twisting tale of woolly hair: a trait with many causes
Department of Dermatology and the Center for Genetic Diseases of the Skin and Hair, Hadassah—Hebrew University Medical Center, Jerusalem, Israel Correspondence to Professor Abraham Zlotogorski, ...
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Online First
Canadian consensus for the assessment and testing of Lynch syndrome ...
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Application of haplotype pair analysis for the identification of hemizygous loci
1 Myriad Genetics Inc, Salt Lake City, UT 84108, USA 2 Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT 84132, USA Correspondence to: Dr T Scholl, Clinical Research ...
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Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment
Camurati-Engelmann disease (CED) is a rare autosomal dominant type of bone dysplasia. This review is based on the unpublished and detailed clinical, radiological, and molecular findings in 14 CED ...
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Sweat testing to identify female carriers of X linked hypohidrotic ectodermal dysplasia.
X linked hypohidrotic ectodermal dysplasia (XHED) affects many epithelial functions, including sweat gland formation. Female carriers who manifest XHED may have defective dentition or a patchy ...
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Cleidocranial dysplasia: clinical and molecular genetics
Cleidocranial dysplasia (CCD) (MIM 119600) is an autosomal dominant skeletal dysplasia characterised by abnormal clavicles, patent sutures and fontanelles, supernumerary teeth, short stature, and a ...
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Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
56 CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST); Universitat Pompeu Fabra (UPF), Barcelona, Spain 57 Unité de Neurophysiologie Clinique, Centre ...
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Chromosomal duplication of band 10p14 segregating through four generations
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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Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy.
A total population study of chronic childhood spinal muscular atrophy (arrested Werdnig-Hoffmann disease, Kugelberg-Welander disease, SMA type II and III) was undertaken in north-east England to ...
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Defective NDUFA9 as a novel cause of neonatally fatal complex I disease
1 Department of Clinical Genetics, Unit Clinical Genomics, Maastricht University Medical Centre, Maastricht, The Netherlands 2 School for Oncology and Developmental Biology, Maastricht University ...