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An Update on Common Chromosome Microdeletion and Microduplication Syndromes.
Goldenberg P. Goldenberg P. Pediatr Ann. 2018 May 1;47(5):e198-e203. doi: 10.3928/19382359-20180419-01. Pediatr Ann. 2018. PMID: 29750287 Review.
This review summarizes common microdeletion and microduplication syndromes and highlights important updates in patient-care needs for people with these conditions (22q11.2, 7q11.23, 17p11.2, and 16p11.2). ...Some conditions have possible increased or d …
This review summarizes common microdeletion and microduplication syndromes and highlights important updates in patient-care ne …
[New chromosomal syndromes].
Schluth-Bolard C, Till M, Edery P, Sanlaville D. Schluth-Bolard C, et al. Pathol Biol (Paris). 2008 Sep;56(6):380-7. doi: 10.1016/j.patbio.2008.03.006. Epub 2008 May 7. Pathol Biol (Paris). 2008. PMID: 18467039 Review. French.
Among these newly detected rearrangements, some of them are recurrent and define new recognized syndromes. We will first briefly explain the non-allelic homologous recombination (NAHR) mechanism that underlines the origin of recurrent microdeletions and microduplication
Among these newly detected rearrangements, some of them are recurrent and define new recognized syndromes. We will first briefly expl …
[Williams-Beuren syndrome: a multidisciplinary approach].
Lacroix A, Pezet M, Capel A, Bonnet D, Hennequin M, Jacob MP, Bricca G, Couet D, Faury G, Bernicot J, Gilbert-Dussardier B. Lacroix A, et al. Arch Pediatr. 2009 Mar;16(3):273-82. doi: 10.1016/j.arcped.2008.11.011. Epub 2008 Dec 18. Arch Pediatr. 2009. PMID: 19097873 Review. French.
Williams-Beuren syndrome (WBS) (OMIM# 194050) is a rare, most often sporadic, genetic disease caused by a chromosomal microdeletion at locus 7q11.23 involving 28 genes. ...The aim of this paper is to summarize the major points of WBS regarding: (i) the differ …
Williams-Beuren syndrome (WBS) (OMIM# 194050) is a rare, most often sporadic, genetic disease caused by a chromosomal microdeletion a …
Cardiovascular and genitourinary anomalies in patients with duplications within the Williams syndrome critical region: phenotypic expansion and review of the literature.
Zarate YA, Lepard T, Sellars E, Kaylor JA, Alfaro MP, Sailey C, Schaefer GB, Collins RT 2nd. Zarate YA, et al. Am J Med Genet A. 2014 Aug;164A(8):1998-2002. doi: 10.1002/ajmg.a.36601. Epub 2014 May 20. Am J Med Genet A. 2014. PMID: 24844942 Review.
Williams syndrome results from a microdeletion of approximately 1.5 Mb of chromosome 7q11.23. Several patients have been reported with the reciprocal microduplication in association with a variety of phenotypic features including cognitive impairment a …
Williams syndrome results from a microdeletion of approximately 1.5 Mb of chromosome 7q11.23. Several patients have bee …