Zobrazeno 1 - 7 of 7 pro vyhledávání: '"D K, Grange"'
1
Utility of clinical high-depth next generation sequencing for somatic variant detection in the PIK3CA-related overgrowth spectrum
Autor: V, Hucthagowder, A, Shenoy, M, Corliss, K A, Vigh-Conrad, C, Storer, D K, Grange, C E, Cottrell
Publikováno v: Clinical genetics. 91(1)
Next-generation sequencing (NGS) has revolutionized the approach of studying sequence variation, and has been well described in the clinical laboratory setting for the detection of constitutional alterations, as well as somatic tumor-associated varia
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6089d7ce1ce80b96a77d0f1dce3cbc55
https://pubmed.ncbi.nlm.nih.gov/27307077
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2
Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes
Autor: M, Shinawi, R, Coorg, J S, Shimony, D K, Grange, H, Al-Kateb
Publikováno v: Clinical genetics. 87(5)
Intragenic copy number variations involving the CAMTA1 (calmodulin-binding transcription activator 1) gene have recently been reported in four unrelated families with intellectual disability (ID), ataxia, behavioral- and cerebellar-abnormalities. We
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::70b514be944271f6d7f026fcb855f6ac
https://pubmed.ncbi.nlm.nih.gov/24738973
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3
Two unbalanced translocations involving a common 6p25 region in two XY female patients
Autor: J R, Batanian, D K, Grange, R, Fleming, B, Gadre, J, Wetzel
Publikováno v: Clinical genetics. 59(1)
We report two 46,XY female patients with two different de novo unbalanced translocations, each involving the chromosomal region 6p25. The patient with a 46,XY,der(6)t(X;6)(p21.2;p25) karyotype had a sex reversal phenotype. The patient with a 46,XY,de
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e50a1630802b4532da2fea346379328f
https://pubmed.ncbi.nlm.nih.gov/11168026
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4
Preferential involvement of the short arm in chromosome 8-derived supernumerary markers and ring as identified by chromosome arm painting
Autor: J R, Batanian, Y, Huang, G S, Gottesman, D K, Grange, A V, Blasingame
Publikováno v: American journal of medical genetics. 90(4)
We report on the use of fluorescence in situ hybridization (FISH) with specific chromosome 8 arm painting to characterize further small supernumerary chromosome 8-derived markers/rings (SMC/SRC) identified in three patients. Two patients (patients 1
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a0b3bb5adf2f14b29add92c9710e40a8
https://pubmed.ncbi.nlm.nih.gov/10710223
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7
Osteogenesis imperfecta type IV. Detection of a point mutation in one alpha 1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis
Autor: J C, Marini, D K, Grange, G S, Gottesman, M B, Lewis, D A, Koeplin
Publikováno v: The Journal of biological chemistry. 264(20)
We have identified a point mutation in one alpha 1(I) collagen allele (COL1A1) of a child with the type IV osteogenesis imperfecta phenotype. When compared to parental and control samples, skin fibroblasts of the proband synthesized two populations o
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1146f4e5628c795d853cb0cfed673e3e
https://pubmed.ncbi.nlm.nih.gov/2745420
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