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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1986 1
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2002 6
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2007 7
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113 results

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Page 1
Updated penetrance estimates for recurrent copy number variants - an improved definition and formula.
Goh S, Dudding-Byth T, Pinese M, Kirk EP. Goh S, et al. Eur J Hum Genet. 2026 Jan;34(1):119-127. doi: 10.1038/s41431-025-01948-0. Epub 2025 Oct 15. Eur J Hum Genet. 2026. PMID: 41094176 Free PMC article.
These include 1q21.1 proximal duplications [RBM8A], 2q11.2 deletions [TMEM127], 2q13 proximal deletions and duplications [NPHP1], 6q16 duplications [SIM1], 13q12 deletions [CRYL1], 15q11.2 duplications [NIPA1, NIPA2], 15q13.3 duplications [CHRNA7], 16p …
These include 1q21.1 proximal duplications [RBM8A], 2q11.2 deletions [TMEM127], 2q13 proximal deletions and duplications [NPHP …
Defining the region(s) of deletion at 6q16-q22 in human prostate cancer.
Hyytinen ER, Saadut R, Chen C, Paull L, Koivisto PA, Vessella RL, Frierson HF Jr, Dong JT. Hyytinen ER, et al. Genes Chromosomes Cancer. 2002 Jul;34(3):306-12. doi: 10.1002/gcc.10065. Genes Chromosomes Cancer. 2002. PMID: 12007191
At present, however, the region of deletion has not been well defined, and the target gene of deletion remains to be identified. ...These results should be useful in identifying the target gene(s) of deletion at 6q....
At present, however, the region of deletion has not been well defined, and the target gene of deletion remains to be id …
Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion.
Okazaki T, Kawaguchi T, Saiki Y, Aoki C, Kasagi N, Adachi K, Saida K, Matsumoto N, Nanba E, Maegaki Y. Okazaki T, et al. Hum Genome Var. 2022 May 17;9(1):14. doi: 10.1038/s41439-022-00194-w. Hum Genome Var. 2022. PMID: 35581197 Free PMC article.
There is only one report of patients with developmental delay due to a 6q16.1 deletion that does not contain the SIM1 gene. A 3-year-old female showed strabismus, cleft soft palate, hypotonia at birth, and global developmental delay. Exome sequencing detected …
There is only one report of patients with developmental delay due to a 6q16.1 deletion that does not contain the SIM1 gene …
Delineation of a minimal region of deletion at 6q16.3 in follicular lymphoma and construction of a bacterial artificial chromosome contig spanning a 6-megabase region of 6q16-q21.
Henderson LJ, Okamoto I, Lestou VS, Ludkovski O, Robichaud M, Chhanabhai M, Gascoyne RD, Klasa RJ, Connors JM, Marra MA, Horsman DE, Lam WL. Henderson LJ, et al. Genes Chromosomes Cancer. 2004 May;40(1):60-5. doi: 10.1002/gcc.20013. Genes Chromosomes Cancer. 2004. PMID: 15034870
One such region of recurrent deletion is 6q16-q21; however, the specific genes affected have not been identified. Our objective in this study was to identify cases with deletion of 6q16-q21 in follicular lymphoma and to define a minimal region of de …
One such region of recurrent deletion is 6q16-q21; however, the specific genes affected have not been identified. Our objectiv …
Deletion of 6q16-q21 in human lymphoid malignancies: a mapping and deletion analysis.
Jackson A, Carrara P, Duke V, Sinclair P, Papaioannou M, Harrison CJ, Foroni L. Jackson A, et al. Cancer Res. 2000 Jun 1;60(11):2775-9. Cancer Res. 2000. PMID: 10850412
In this study, 30 overlapping yeast artificial chromosomes (YACs), 1 expressed sequence tag, and 11 novel YAC ends were identified using bidirectional YAC walks between markers D6S447 (proximal) and D6S246 (distal) in RMD-2. ...A region centromeric to D6S447 (containing ma …
In this study, 30 overlapping yeast artificial chromosomes (YACs), 1 expressed sequence tag, and 11 novel YAC ends were identified us …
A 8.26Mb deletion in 6q16 and a 4.95Mb deletion in 20p12 including JAG1 and BMP2 in a patient with Alagille syndrome and Wolff-Parkinson-White syndrome.
Le Gloan L, Pichon O, Isidor B, Boceno M, Rival JM, David A, Le Caignec C. Le Gloan L, et al. Eur J Med Genet. 2008 Nov-Dec;51(6):651-7. doi: 10.1016/j.ejmg.2008.07.012. Epub 2008 Aug 15. Eur J Med Genet. 2008. PMID: 18775522
The aberration was further characterized using an Agilent 44K oligonucleotide array, which confirmed the 4.95Mb 20p12 deletion. An additional 8.26Mb deletion was identified at the 6q16 translocation breakpoint. ...The patient we describe presented with a 6 …
The aberration was further characterized using an Agilent 44K oligonucleotide array, which confirmed the 4.95Mb 20p12 deletion. An ad …
A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity.
Varela MC, Simões-Sato AY, Kim CA, Bertola DR, De Castro CI, Koiffmann CP. Varela MC, et al. Eur J Med Genet. 2006 Jul-Aug;49(4):298-305. doi: 10.1016/j.ejmg.2005.12.002. Epub 2006 Jan 4. Eur J Med Genet. 2006. PMID: 16829351
A PWS-like phenotype has been described in patients with chromosome abnormalities involving the chromosome region 6q16.2 that includes the SIM1 gene. Herein we report cytogenetic and gene studies including a screening for the SIM1 gene deletion, …
A PWS-like phenotype has been described in patients with chromosome abnormalities involving the chromosome region 6q16.2 that include …
Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype.
Faivre L, Cormier-Daire V, Lapierre JM, Colleaux L, Jacquemont S, Geneviéve D, Saunier P, Munnich A, Turleau C, Romana S, Prieur M, De Blois MC, Vekemans M. Faivre L, et al. J Med Genet. 2002 Aug;39(8):594-6. doi: 10.1136/jmg.39.8.594. J Med Genet. 2002. PMID: 12161602 Free PMC article. No abstract available.
Genetic obesity syndromes.
Goldstone AP, Beales PL. Goldstone AP, et al. Front Horm Res. 2008;36:37-60. doi: 10.1159/000115336. Front Horm Res. 2008. PMID: 18230893 Review.
We also discuss highlights of other genetic obesity syndromes including Alstrom syndrome, Cohen syndrome, Albright's hereditary osteodystrophy (pseudohypoparathyroidism), Carpenter syndrome, MOMO syndrome, Rubinstein-Taybi syndrome, cases with deletions of 6q16, 1p3 …
We also discuss highlights of other genetic obesity syndromes including Alstrom syndrome, Cohen syndrome, Albright's hereditary osteodystrop …
Familial complex chromosomal rearrangement resulting in duplication/deletion of 6q14 to 6q16.
Roland B, Lowry RB, Cox DM, Ferreira P, Lin CC. Roland B, et al. Clin Genet. 1993 Mar;43(3):117-21. doi: 10.1111/j.1399-0004.1993.tb04434.x. Clin Genet. 1993. PMID: 8500257
Carriers of the CCR have the karyotype 46,XX or XY, t(6;15)(q16;q21), ins(3;6)(q12;q14q16), and malsegregation of the CCR resulted in loss of the segment 6q14 to 6q16 in the proband, and in an additional copy of the same segment in three members of the extended family. The …
Carriers of the CCR have the karyotype 46,XX or XY, t(6;15)(q16;q21), ins(3;6)(q12;q14q16), and malsegregation of the CCR resulted in loss o …
113 results