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Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent.
Charcot-Marie-Tooth type 1 disease (CMT1) and hereditary neuropathy with liability to pressure palsies (HNPP) are common inherited disorders of the peripheral nervous system. The majority of CMT1Expand
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Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion
A female patient with clinical signs and symptoms of a demyelinating neuropathy was shown to have a duplication of the 1.5-Mb region on chromosome 17p11.2, typical of the great majority of cases ofExpand
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De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1).
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant condition with variable age of onset and severity. Identification of a de novo DNA fragment by probe p13E-11 (D4F104S1)Expand
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Evaluation of the facioscapulohumeral muscular dystrophy (FSHD1) phenotype in correlation to the concurrence of 4q35 and 10q26 fragments
Probe p13E‐11 (locus D4F104S1) detects two highly homologous polymorphic loci on chromosomes 4q35 and 10q26. Previous reports in the literature have described a correlation of shortened 4q35‐specificExpand
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Detection oftheCMTlA/HNPPrecombination hotspot inunrelated patients ofEuropean
Charcot-Marie-Tooth type 1 disease (CMT1)andhereditary neuropathy with liability to pressure palsies (HNPP)are common inherited disorders oftheperipheral nervous system.The majority of CMT1 patientsExpand