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Chromosome 11p11.2 Deletion Syndrome

Known as: Defect11 Syndrome, P11pDS, Potocki-Shaffer Syndrome 
A very rare genetic syndrome caused by deletions on the proximal short arm of chromosome 11. It is characterized by the presence of multiple… Expand
National Institutes of Health

Related topics

Related topics

5 relations

Broader (4)

Chromosome DeletionChromosomes, Human, Pair 11Congenital chromosomal diseaseHereditary Multiple Exostoses
EXOSTOSES, MULTIPLE, TYPE II

Papers overview

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2018
2018
Optical-Electrical-Chemical Engineering of PEDOT:PSS by Incorporation of Hydrophobic Nafion for Efficient and Stable Perovskite Solar Cells.
In PIN-type perovskite solar cells (PSCs), the hydroscopicity and acidity of the poly(3,4-ethylenedioxythiophene)-poly(styrene… Expand
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2018
2018
Bootstrapping the autoregressive distributed lag test for cointegration
ABSTRACT We propose a bootstrap autoregressive-distributed lag (ARDL) test. By applying the appropriate bootstrap method, some… Expand
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2014
2014
Polygenic determinants of white matter volume derived from GWAS lack reproducibility in a replicate sample
A recent publication reported an exciting polygenic effect of schizophrenia (SCZ) risk variants, identified by a large genome… Expand
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Highly Cited
2012
Highly Cited
2012
Role of the frequency of blood CD4(+) CXCR5(+) CCR6(+) T cells in autoimmunity in patients with Sjögren's syndrome.
The blood CD4(+) CXCR5(+) T cells, known as "circulating" Tfh, have been shown to efficiently induce naïve B cells to produce… Expand
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2010
2010
Similarities and Differences Between Primary and Secondary Sjögren’s Syndrome
Objective. To define the clinical, serological, and histopathological characteristics of primary (pSS) and secondary Sjögren’s… Expand
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Highly Cited
2008
Highly Cited
2008
Viruses induce high expression of BAFF by salivary gland epithelial cells through TLR- and type-I IFN-dependent and -independent pathways.
B cell activating factor (BAFF) plays a key role in promoting B lymphocyte activation. We investigated whether danger signals… Expand
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Highly Cited
2007
Highly Cited
2007
QTL analysis of resistance to Fusarium head blight in the novel wheat germplasm CJ 9306. I. Resistance to fungal spread
Fusarium head blight (FHB or scab) caused by Fusarium species is a destructive disease in wheat and barley worldwide. The… Expand
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Highly Cited
2001
Highly Cited
2001
Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects
Inherited defects of skull ossification often manifest as symmetric parietal foramina (PFM; MIM 168500). We previously identified… Expand
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2000
2000
Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome.
Heterozygous mutations in MSX2 are responsible for an autosomal dominant form of parietal foramina (PFM). PFM are oval defects of… Expand
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Highly Cited
1991
Highly Cited
1991
The role of bacteria in pigment gallstone disease.
One hundred ten of nine hundred sixty consecutive patients who underwent surgery for gallstones (GS) had pigment stones (PS) (11… Expand
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