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Duplication Dup(1)(q32q44) Detected by Comparative Genomic Hybridization (CGH): Further Delineation of Trisomies 1q
Partial trisomy 1q is rare and mostly the result of an abnormal segregation of parental translocation chromosomes and their homologues. Only 31 cases have been described with pure partial trisomy 1q.… Expand
Germline mosaicism in 4q35 facioscapulohumeral muscular dystrophy (FSHD1A) occurring predominantly in oogenesis
Abstract Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominantly inherited neuromuscular disorder affecting facial and shoulder girdle muscles with subsequent progression to the… Expand
Involvement of chromosomes #1 and #11 in three cases with myeloproliferative diseases.
We describe one case of myeloid metaplasia with a dup(1q21 leads to 1q32), one case of myelomonocytic leukemia with a deletion of 11p (11p12 leads to 11q14), and a case of polycythemia vera with a… Expand
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‐specific… Expand
P 328. Novel Homozygous Variants Confirm SPTBN4-Related Congenital Myopathy and Expand the Clinical Phenotype