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*  SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients. - PubMed - NCBI
PMDS is caused by heterozygous deletions of chromosome 22q13.3. Among the genes in the deleted region is SHANK3, which encodes ... 22q13 Deletion Syndrome - Genetic Alliance. Research Materials. *Get Article's Plasmids - Addgene - Addgene Non-profit plasmid ... SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients.. Shcheglovitov A1, Shcheglovitova O ... Shank3 and IGF1 Restore Synaptic Deficits in Neurons from 22q13 Deletion Syndrome Patients ...
  https://www.ncbi.nlm.nih.gov/pubmed/?term=24132240
*  G3 Flashcards by Hazel Cooley | Brainscape
caused by heterozygous deletion at tip of short arm chromosome 5, low fatalty rates ... polytene chromosomes in drosophillia melangaster failure of normal homologs to pair creates a deletion loop. deletions can be ... identical dna seqs of chromosomes segements that are in different locations of a chromosome or in different chromosomes - KEY ... when recessive allles appear to have dominance due to deletion in other homolog. - can detect deletions from this ...
  https://www.brainscape.com/flashcards/g3-4652781/packs/6874924
*  De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome | SpringerLink
They carry a de novo heterozygous 126 Kbp deletion at chromosome 11q12.3 involving 5 genes, four of which, namely HRASLS5, ... The twin patients shared a heterozygous chromosome 11q12.3 deletion including genes (HRASLS5, RARRES3, HRASLS2, and PLA2G16) ... Our twin girls share a heterozygous 126 Kbp interstitial deletion at chromosome 11q12.3 spanning 5 genes. This specific ... The CGH microarray analysis showed a heterozygous 126 Kbp interstitial deletion of chromosome 11q12.3, arr [hg19] 11q12.3( ...
  https://link.springer.com/article/10.1186%2F1471-2350-15-63
*  Recovery from arterial growth delay reduces penetrance of cardiovascular defects in mice deleted for the DiGeorge syndrome...
Chromosome 22q11.2 heterozygous deletions cause the most common deletion syndrome, including the DiGeorge syndrome phenotype. ... Chromosome 22q11.2 heterozygous deletions cause the most common deletion syndrome, including the DiGeorge syndrome phenotype. ... Using a mouse model of this deletion (named Df1) we show that the aortic arch patterning defects that occur in heterozygously ... Using a mouse model of this deletion (named Df1) we show that the aortic arch patterning defects that occur in heterozygously ...
  http://oxfordindex.oup.com/view/10.1093/hmg/10.9.997
*  OPUS Würzburg | Search
A 6.9 Mb heterozygous deletion on chromosome 4q35.1q35.2 was identified in a syndromic patient that was in agreement with a ... Two homozygous deletions and five heterozygous deletions in STRC (DFNB16) were also detected. The homozygous deletions alone ... chromosome 4q deletion syndrome diagnosis. A 99.9 kb heterozygous deletion of exons 58-64 in USH2A was identified in one ... The patient having the USH2A heterozygous deletion also disclosed a second mutation in this gene [c.2276G,T (p.C759F)]. This ...
  https://opus.bibliothek.uni-wuerzburg.de/solrsearch/index/search/searchtype/all/start/0/rows/10/has_fulltextfq/false
*  High-resolution array copy number analyses for detection of deletion, gain, amplification and copy-neutral LOH in primary...
Chromosome 9p, especially the gene CDKN2A, is subject to homozygous (four cases) and heterozygous deletions (five cases) in ... Two regions with homozygous deletions, four cases with CDKN2A deletions in 9p and one case with deletion on 3p (the gene RBMS3 ... Thirty percent of the tumors harbored 1p deletion, 22% deletion of 11q, 26% had MYCN amplification and 45% 17q gain. Most of ... Complex amplification on chromosome 12 was detected in two tumors and three different overlapping regions of amplification were ...
  https://0-bmcgenomics-biomedcentral-com.brum.beds.ac.uk/articles/10.1186/1471-2164-9-353
*  FZD9 Gene - GeneCards | FZD9 Protein | FZD9 Antibody
The FZD9 gene is located within the Williams syndrome common deletion region of chromosome 7, and heterozygous deletion of the ... human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at ...
  https://www.genecards.org/cgi-bin/carddisp.pl?gene=FZD9&keywords=hsa-mir-2278
*  Mains PE[au] - PubMed - NCBI
... pairing in mice heterozygous for a t haplotype can produce recombinant chromosomes with duplications and deletions. ... Katanin maintains meiotic metaphase chromosome alignment and spindle structure in vivo and has multiple effects on microtubules ... The asymmetry of female meiosis reduces the frequency of inheritance of unpaired chromosomes. ...
  https://www.ncbi.nlm.nih.gov/pubmed?cmd=search&term=Mains+PE%5Bau%5D&dispmax=50
*  FZD9 polyclonal antibody - (PAB26216) - Products - Abnova
The FZD9 gene is located within the Williams syndrome common deletion region of chromosome 7, and heterozygous deletion of the ...
  http://www.abnova.com/products/products_detail.asp?catalog_id=PAB26216
*  miR-221 overexpression contributes to liver tumorigenesis | PNAS
PTEN and DDIT4 genes are only separated by 12 Mb on chromosome 10q, implying that the heterozygous deletion of 10q and coup- ... 2008) Chromosome instability in human hepatocellular carcinoma depends on p53 status and aflatoxin exposure. Mutat Res 653:6-13 ... 2003) Homozygous deletion scanning in hepatobiliary tumor cell lines reveals alternative pathways for liver carcinogenesis. ...
  http://www.pnas.org/content/107/1/264
*  Searle Scholars Program : Bruce Lahn (2000)
The ability to identify small heterozygous deletions (deletions affecting one chromosome but not its homolog) in the human ... However, technology for systematically identifying heterozygous deletions is lacking. Our lab is currently developing such ...
  https://searlescholars.net/person/129
*  Bilateral frontoparietal polymicrogyria - Wikipedia
Diagnostic criteria for a BFPP patient entails a heterozygous genotype for a deletion of chromosome 16q12.1-q21 region, ... "Bilateral Frontoparietal Polymicrogyria (BFPP) Syndrome Secondary to a 16q12.1-q21 Chromosome Deletion Involving GPR56 Gene." ... To date, a total of fourteen BFPP-associated mutations have been identified, including one deletion, two splicing, and eleven ...
  https://en.wikipedia.org/wiki/Bilateral_frontoparietal_polymicrogyria
*  Patent US5985549 - Non-isotopic in-situ hybridization method for detection of nucleic acids - Google Patents
... or whether the nucleic acid sequence of interest is localized in the chromosomes, nucleus, or cytoplasm of a cell. The methods ... predisposition to develop intestinal polyps which is associated with a heterozygous deletion of a region of human Chromosome 5 ... and is able to distinguish between a heterozygous deletion (only one homologue affected) and a homozygous deletion (both ... Fixation of Cellular Nuclei and Chromosomes. The purpose of fixing cellular nuclei or chromosomes is to preserve the nucleic ...
  http://www.google.com/patents/US5985549?dq=5,072,412
*  CHAPTER 119 HEREDITARY QUALITATIVE PLATELET DISORDERS | Free Medical Textbook
Velocardiofacial syndrome patients with a heterozygous chromosome 22q11 deletion have giant platelets. Pediatr Res 44:607, 1998 ... and another patient has been described who is heterozygous for this deletion and a missense mutation of GPIba.236,238,239,247 ... De La Salle C, Baas M-J, Lanza F, et al: A three-base deletion removing a leucine residue in a leucine-rich repeat of platelet ... Heterozygous point mutations in the GPIba DNA (Gly233 ® Val and Met239 ® Val) have been found in several different families. ...
  https://medtextfree.wordpress.com/2012/02/09/chapter-119-hereditary-qualitative-platelet-disorders/
*  Most recent papers with the keyword cleft palate or lip | Read by QxMD
BACKGROUND: Wolf-Hirschhorn syndrome is a rare genetic syndrome caused by a heterozygous deletion on chromosome 4p16.3 and is ... Monoallelic deletions of 20p12 are variably associated with cleft palate, short stature, and developmental delay. Here, we ... predicted-to-result-in-haploinsufficiency-cause-craniofacial-skeletal-and-cardiac-features-overlapping-those-of-20p12-deletions ... and Cardiac Features Overlapping Those of 20p12 Deletions. ... truncating and frameshift BMP2 variants and deletions in 12 ...
  https://www.readbyqxmd.com/keyword/31687
*  Frontiers | Development and Evaluation of Chromosome Segment Substitution Lines Carrying Overlapping Chromosome Segments of the...
... heterozygous chromosome segment substitution lines (HCSSLs) were also produced, which were heterozygous in the target regions. ... heterozygous chromosome segment substitution lines (HCSSLs) were also produced, which were heterozygous in the target regions. ... In particular, chromosome segment substitution lines (CSSLs) are most powerful tools for the detection and precise mapping of ... In particular, chromosome segment substitution lines (CSSLs) are most powerful tools for the detection and precise mapping of ...
  https://www.frontiersin.org/articles/10.3389/fpls.2016.01737/full
*  Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions - Full Text View - ClinicalTrials.gov
The syndrome is caused by heterozygous contiguous gene deletions of variable size on chromosome 11, involving a region that ... Healthy normal volunteers, people with isolated aniridia, and people with WAGR or another chromosome 11 gene deletion may be ... Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions. This study has been completed. ... For WAGR/11p deletion subjects:. *Diagnosis of WAGR/11p deletion confirmed by prior genetic testing or clinical history ...
  https://clinicaltrials.gov/ct2/show/NCT00758108?recr=Open&cond=%22Wilms+Tumor%22&rank=17
*  HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase - Gene - GTR - NCBI
... and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3- ... Chromosome: 1; NC_000001.11 (23801877..23825459, complement). Total number of exons:. 9. ...
  https://www.ncbi.nlm.nih.gov/gtr/genes/3155/
*  Miller-Dieker syndrome
... (MDS) is caused by a heterozygous deletion of chromosome 17p13.3 involving the genes LIS1 and YWHAE ( ... Miller-Dieker syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 17. ... Deletion of the LIS1, ASPA, TRPV1 and CAMTA2 genes in region 17p13.3 in a patient with Miller-Dieker syndrome]. ... Condition Summary: Microdeletion Syndromes; Trisomy 21; Trisomy 18; Trisomy 13; Sex Chromosome Abnormalities ...
  http://www.diseaseinfosearch.org/result/4816
*  Plus it
... lymphoma related to hereditary nonpolyposis colorectal cancer in a patient with a novel heterozygous complex deletion in the ... Genes Chromosomes Cancer 2008; 47: 326-32.. OpenUrlCrossRefPubMed. *↵ Hirano K, Yamashita K, Yamashita N, et al. Non-Hodgkin's ... MMR is initiated by recognition of base-base mismatches and/or small insertion/deletion loops by heterodimeric complexes formed ... or T-cell lymphomas have been reported in hereditary nonpolyposis colorectal cancer patients with heterozygous mutations in ...
  http://cancerres.aacrjournals.org/content/69/10/4372
*  Heterozygous Mutations Causing Partial Prohormone Convertase 1 Deficiency Contribute to Human Obesity | Diabetes
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature 2010;463:671-675doi:10.1038/nature08727 ... In the three studies, probands were either compound heterozygous or homozygous for mutations in PCSK1. The eight heterozygous ... and the chromosome 16p deletion (39), PCSK1 is the third most prevalent contributor to extreme obesity in European populations ... All carriers were heterozygous. The clinical characteristics of each PCSK1 mutation carrier are reported in Supplementary Table ...
  http://diabetes.diabetesjournals.org/content/61/2/383.long?cited-by=yes&legid=diabetes
*  Copy number variation - missing inheritance in retinal disorder | IOVS | ARVO Journals
We detected likely pathogenic deletions in five families. These included: a heterozygous ≈1.1 Mb deletion on chromosome 2, ... a heterozygous deletion of ≈34kb affecting PRPF31, a heterozygous deletion of exons 15-18 in EYS (in trans with c.9099_9099del ... The high number of unsolved cases can be attributed to the yet-unidentified genes, large duplications/deletions also called ... All the deletions were confirmed and fine mapped by qRT-PCR. In two families, the breakpoints were determined by PCR ...
  https://iovs.arvojournals.org/article.aspx?articleid=2560080
*  JCI - Promotion of tumorigenesis by heterozygous disruption of the beclin 1 autophagy gene
Detailed deletion mapping of chromosome 17q in ovarian and breast cancers: 2-cM region on 17q21.3 often and commonly deleted in ... Beclin 1 heterozygous deletion decreases autophagy in muscle (a-d), bronchial epithelia (e-h), and germinal center B ... Beclin 1 heterozygous deletion alters cell-growth control in the mammary gland and in splenic germinal centers. (a-d) H&E ... 19, 52; and B. Levine et al., unpublished data). Therefore, we focused on determining whether heterozygous deletion of beclin 1 ...
  https://www.jci.org/articles/view/20039
*  Hong Kong Journal of Paediatrics [HK J Paediatr (New Series) 2015;20:273-274]
... gene deletion syndrome diagnosed clinically and confirmed by a 3.7 Mb heterozygous interstitial deletion in chromosome 17p11.2 ... aCGH showed a 3.39 Mb deletion in chromosome 17p11.2 (Figure 3), confirming the diagnosis of Smith Magenis syndrome. ... having the common approximately 3.5 Mb deletion. Deletion or mutation of the gene RAI1 (retinoic acid-induced protein 1) is ... Potocki-Lupski syndrome is a 17p11.2 duplication syndrome and contains the recombination reciprocal of the SMS deletion. ...
  http://www.hkjpaed.org/details.asp?id=1033&show=1234