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PubMed 2852474 Complex glycerol kinase deficiency: molecular-genetic, cytogenetic, and clinical studies of five Japanese patients. Five male Japanese patients with complex glycerol kinase deficiency (CGKD) and their 1.63 KB 2015-11-26 17 0
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PubMed 7726234 Duchenne muscular dystrophy and myotonic dystrophy in the same patient. We report on the first patient identified with myotonic dystrophy and Duchenne muscular dystrophy (DMD). The family of the propo 1.08 KB 2015-11-27 16 0
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PubMed 8500791 Autosomal recessive transmission of hemophilia A due to a von Willebrand factor mutation. The differential diagnosis of the genetic bleeding disorders, hemophilia A and von Willebrand disease, is occa 1.65 KB 2015-11-27 16 0
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PubMed 2016095 A de novo unbalanced reciprocal translocation identified as paternal in origin in the Prader-Willi syndrome. Interstitial cytogenetic deletions involving the paternally derived chromosome 15q11-13 hav 819 Bytes 2015-12-07 15 0
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PubMed 1302008 Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development. Denys-Drash syndrome is a rare human developmental disorder affecting the urogenital system and 732 Bytes 2015-11-22 14 0
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PubMed 7802009 Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X-chromosome inactivation. A pair of female monozygotic (MZ) twins 971 Bytes 2015-11-27 16 0
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PubMed 7857677 Homozygous presence of the crossover (fusion gene) mutation identified in a type II Gaucher disease fetus: is this analogous to the Gaucher knock-out mouse model? Gaucher disease (GD) is an inherited 1.78 KB 2015-03-12 15 1
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PubMed 8266996 Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome. Abnormalities of chromosome region 15q11-13 are ass 859 Bytes 2015-11-27 14 0
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PubMed 7874117 A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia. Kniest dysplasia is a moderately severe chondrodysplasia phenotype that results from mutations 1.4 KB 2015-03-12 14 3
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PubMed 8301658 X linked recessive thrombocytopenia. A Saudi Arab boy presented in early childhood with thrombocytopenia, morphologically large and normal sized platelets, increased mean platelet volume, and a hyperm 1.09 KB 2015-03-12 14 1
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