jmg.bmj11h
Segmental uniparental isodisomy (UPD) for 2p16 without clinical symptoms: implications for UPD and other genetic studies of chromosome 2
*Unit on Genetics and Endocrinology (UGEN), Developmental Endocrinology Branch, (DEB), National Institute of Child Health and Human Development (NICHD), Building 10, Room 10N262, 10 Center Drive, ...
jmg.bmj13h
Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome.
The simultaneous occurrence of familial neurofibromatosis type 1 (NF1) and an overgrowth syndrome resembling Weaver syndrome was observed in two related cases (a mother and her son). NF1 was confirmed ...
jmg.bmj1d
Human transgenerational responses to early-life experience: potential impact on development, health and biomedical research
Mammalian experiments provide clear evidence of male line transgenerational effects on health and development from paternal or ancestral early-life exposures such as diet or stress. The few human ...
jmg.bmj2d
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 ...
jmg.bmj2d
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, ...
jmg.bmj3d
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 ...
jmg.bmj6d
Online First
Canadian consensus for the assessment and testing of Lynch syndrome ...
jmg.bmj2d
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 ...
jmg.bmj8d
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 ...
jmg.bmj1d
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 ...
jmg.bmj13d
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 ...
jmg.bmj11d
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 ...