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PubMed 10417280 Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints. Prader-Willi syndrome (PWS) and Angelman sy 1.49 KB 2015-11-21 10 8
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PubMed 1357962 Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy. Uniparental disomy has recently been recognized to cause human disorders, including Prader-Willi syn 1.21 KB 2015-03-12 14 4
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PubMed 657583 Branchio-oto-renal dysplasia and branchio-oto dysplasia: two distinct autosomal dominant disorders. Three families are presented, one with branchio-oto-renal dysplasia (BOR) and two with branchio-oto 1.05 KB 2015-03-12 9 28
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PubMed 7468659 Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss. Nineteen of 421 white children in Montreal schools for the deaf had preauricular pits. The branchio-oto-renal 861 Bytes 2015-03-12 2 32
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PubMed 6964893 The earpits-deafness syndrome. Clinical and genetic aspects. Several pedigrees with 19 new cases of the earpits-deafness syndrome (McK +12510) [28] are presented. Mention is made of clinical findings 1.59 KB 2015-11-28 3 84
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PubMed 6823972 Studies on the radiosensitivity of cells from patients with basal cell naevus syndrome. No difference in survival was observed between cultured cells from basal cell naevus syndrome (BCNS) patients an 755 Bytes 2015-12-06 3 4
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PubMed 6846397 The branchio-oto-renal (BOR) syndrome: report of bilateral renal agenesis in three sibs. We report a man who had the branchio-oto-renal (BOR) syndrome with crossed renal ectopia. His three children we 685 Bytes 2015-11-28 11 28
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PubMed 3098672 Cell culture studies on neurofibromatosis (von Recklinghausen). V. Monosomy 22 and other chromosomal anomalies in cultures from peripheral neurofibromas. Cell cultures grown from peripheral neurofibro 801 Bytes 2015-03-12 2 20
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PubMed 3105060 Common pathogenetic mechanism for three tumor types in bilateral acoustic neurofibromatosis. Bilateral acoustic neurofibromatosis (BANF) is a genetic defect associated with multiple tumors of neural c 1.15 KB 2015-03-12 2 36
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PubMed 2888021 Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22. Bilateral acoustic neurofibromatosis (BANF) is a severe autosomal dominant disorder involving development of m 1.16 KB 2015-11-26 5 56
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