Deletions gene is located on chromosome gene deletion. Medical search. Frequent questions

7- 9 All reported mutations are single nucleotide alterations leading to splice site, missense, nonsense, or frameshift mutations, or intra-exonic deletions and insertions of up to four nucleotides, which have been detected through exonic PCR amplifications and sequencing. (bmj.com)
We hypothesize that there might be at least three types of autism susceptibility genes/mutations that can be (i) specific to an individual patient or family, (ii) in a genetically isolated sub-population and (iii) a common factor shared amongst different populations. (neurotransmitter.net)
The genes/mutations could act alone or interact with other genetic and/or epigenetic or environmental factors, causing autism or related disorders. (neurotransmitter.net)
Whithout mutations we would know very little about inheritance and the existence of genes. (intechopen.com)
Relevant large fragments of mutations and methylation abnormalities were not found in the associated genes. (spandidos-publications.com)
The data further revealed absence of 25‑bp repeat mutations at the shear mutation site of exon 1 of the small nuclear ribonucleoprotein polypeptide N gene in the subjects examined. (spandidos-publications.com)
In a further 11%, we identify mutations in novel candidate genes. (bvsalud.org)
CONCLUSION: Our study confirms the low contribution of Mendelian mutations in PCH and reports PCH as a phenotypic presentation of some known genes known for syndromic, postnatal hydrocephalus. (bvsalud.org)
Mutations and deletions have been identified in patients. (bvsalud.org)
Deletion or mutations of their encoding genes usually severely impair either oogenesis or spermatogenesis or both. (ijbs.com)
In human, an array of four DAZ genes ( DAZ 1-4) is located in two clusters on the Y chromosome and mutations of these genes cause severe oligospermia or azospermia [ 1 ]. (ijbs.com)
Better understanding of new mutations and the wide range of possible phenotypes led to the development of a new nomenclature proposal, based on the gene and inheritance pattern. (medscape.com)
[ 6 ] However, the gene mutations responsible for the different forms of CMT1 are clearly myelin genes. (medscape.com)
Diagnosis of Mutations in the dystrophin gene can cause Duchenne these disorders is based on clinical presentation, muscular dystrophy or Becker muscular dystrophy. (who.int)
90% of cases, mutations that from mutation in the dystrophin gene (located on short disrupt the reading frame (frame shift) lead to arm of X chromosome, Xp21). (who.int)

The authors recently mapped a susceptibility locus for autism to chromosome region 2q24-q33 (MIM number 606053). (neurotransmitter.net)
2006). Abacavir The 1q21 locus includes a disproportionate variety of human-specific genes (OBleness et al. (exposed-skin-care.net)
2014). In the modified set up this locus harbors three human-specific NOTCH2-produced genes we contact genes within the last few LRCH1 million years after divergence from chimpanzeeshumans obtained brand-new, secreted NOTCH-like proteins that may enhance Notch signaling and could prolong cortical neurogenesis by delaying differentiation of neural progenitors. (exposed-skin-care.net)
2004). The gene annotated as and have a home in the 1q21.1 locus, and a fourth quite different paralog, (NOTCH2NL-Related) is situated near in the p-arm of chromosome 1. (exposed-skin-care.net)
2017). Open up in another window Body 1 is situated in a neurodevelopmental disease locus and displays adjustable gene and proteins features(A) Area of NOTCH2NL genes (crimson) and extra genes produced from individual segmental duplication (light blue). (exposed-skin-care.net)
The loss of the expression of the maternal allele of the UBE3A gene is typically associated with the four following mechanisms: Deletion at the 15q11.2-q13 locus, UBE3A functional loss variation, presence of paternal parthenogenetic double chromosome or genomic imprinting defect ( 4 ). (spandidos-publications.com)
The UBE3A gene is located on the 15q11-q13 locus of chromosome 15. (spandidos-publications.com)
Adibalapravritta, chromosome at Xp21 locus. (who.int)

Distal 18q- is a genetic condition caused by a deletion of genetic material within one of the two copies of chromosome 18. (wikipedia.org)
Two copies of chromosome 9, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 9. (medlineplus.gov)

The protein produced from the BCR-ABL1 gene signals cells to continue dividing abnormally and prevents them from self-destructing, which leads to overproduction of the abnormal cells. (medlineplus.gov)
Histidine-rich protein 2/3 antigen concentrations were reduced with corresponding gene deletions. (cdc.gov)
ZIP4 is a ZMM protein involved in homologous recombination and may act as a hub through physical interactions with components of the chromosome axis and other ZMMs 19 . (nature.com)
The tumor suppressor gene p16/cyclin-dependent kinase inhibitor-2A (CDKN2A) is located within the chromosomal region 9p21 and encodes a cell-cycle protein that is an inhibitor of cyclin-dependent kinases (CDK)-4 and -6. (iiarjournals.org)
TOP2A (DNA topoisomerase II alpha) gene, mapped to chromosome 17q12-q21, covers approximately 27.5 kb and includes 35 exons, encoding a 170 kDa protein [ 7 ]. (jcancer.org)
The WT1 gene produces a protein known as a "transcription factor. (chop.edu)
Angelman syndrome (AS) is an autosomal dominant neurodevelopmental genetic disease with maternal imprint, which is associated with the presence of the abnormal chromosome 15q11‑q13, and the loss of maternal specific expression of ubiquitin‑protein ligase E3A (UBE3A). (spandidos-publications.com)
Among the various genetic metabolic disorders, Angelman syndrome (AS) has attracted considerable attention due to the abnormal expression of the ubiquitin-protein ligase E3A (UBE3A) gene ( 1 ). (spandidos-publications.com)
The human UBE3A gene encodes an E3 ubiquitin ligase, which exhibits three known protein subtypes ( 1 , 8 ). (spandidos-publications.com)
In the developing male (XY) gonad, sex-determining region of the Y (SRY) protein acts to up-regulate expression of the related gene, SOX9 , a transcriptional regulator that in turn initiates a downstream pathway of testis development, whilst also suppressing ovary development. (plos.org)
The byg mutation is an A to T transversion causing a premature stop codon in the gene encoding MAP3K4 (also known as MEKK4), a mitogen-activated protein kinase kinase kinase. (plos.org)
The Y-linked sex determining gene SRY regulates this process by initiating a pathway of gene and protein expression, including the expression of critical autosomal genes such as SOX9 . (plos.org)
This mutant, which we called boygirl ( byg ), was shown to contain an early stop codon that disrupts the autosomal gene encoding MAP3K4, a component of the mitogen-activated protein kinase (MAPK) signaling pathway. (plos.org)
The gene underlying this disorder is NR2F1 located on chromosome 5q15 which encodes for a nuclear receptor protein. (bvsalud.org)
Finally, we show that haploinsufficiency of SPEN is associated with a distinctive DNA methylation episignature of the X chromosome in affected females, providing further evidence of a specific contribution of the protein to the epigenetic control of this chromosome, and a paradigm of an X chromosome-specific episignature that classifies syndromic traits. (dspace-express.com)

The abnormal chromosome 22, containing a piece of chromosome 9 and the fusion gene, is commonly called the Philadelphia chromosome. (medlineplus.gov)

PWS occurs due to abnormalities affecting certain genes in the proximal long arm of chromosome 15 when deleted from the father's chromosome 15 and hence referred to as a genomic imprinting disorder which depends on the sex of the parent donating the chromosome leading to the chromosome defect in the child. (rarediseases.org)
However in recent years with the development of epigenesis, genomic imprinting and the horizontal transferences of the genes, Lamarck's ideas have resurfaced. (intechopen.com)
The higher than 100 kb genomic locations spanning each gene display >99.1% series identification to (Body S1A), recommending that paralogs were created in the last few million years, in once frame as and (Dennis et al. (exposed-skin-care.net)

9q22.3 microdeletion is a chromosomal change in which a small piece of the long (q) arm of chromosome 9 is deleted in each cell. (medlineplus.gov)
In particular, the p16/cyclin-dependent kinase inhibitor 2A (CDKN2A) gene located on chromosomal region 9p21 frequently is altered in several types of cancer. (iiarjournals.org)
DNA double-strand breaks (DSBs) are particularly dangerous for cells, since their inefficient or inaccurate repair can result in deletions and chromosomal translocations that can lead to cancer and/or severe developmental abnormalities in humans. (elifesciences.org)

Here we show that in Saccharomyces cerevisiae a single DSB causes transcriptional inhibition of proximal genes independently of Tel1/ATM and Mec1/ATR. (elifesciences.org)
Deletions involving two non-overlapping regions, known as the distal (telomeric) and proximal (centromeric) critical regions, are sufficient to cause the majority of the recurrent clinical features, although with different facial features and dysmorphisms. (dspace-express.com)
SPEN encodes a transcriptional repressor commonly deleted in proximal del1p36 syndrome and is located centromeric to the proximal 1p36 critical region. (dspace-express.com)

Chromosome 9 likely contains 800 to 900 genes that provide instructions for making proteins. (medlineplus.gov)
The proteins involved in homologous recombination have to work around other processes that go on inside the nucleus, such as the transcription of DNA in genes into RNA molecules. (elifesciences.org)
Through mutation burden tests, we demonstrate a significant burden of genetic variants in genes coding for proteins of the primary cilium in PCH patients compared to controls. (bvsalud.org)
These genes, encoding for RNA binding proteins, contain a highly conserved RNA recognition motif and at least one DAZ repeat encoding for a 24 amino acids sequence able to bind other mRNA binding proteins. (ijbs.com)
DAZ family proteins are located in the nucleus and/or in the cytoplasm of male and female germ cells at different developmental stages throughout the gametogenesis. (ijbs.com)

The deletion involves the distal section of 18q and typically extends to the tip of the long arm of chromosome 18. (wikipedia.org)
Furthermore, genes supply the breakpoints in 1q21.1 distal deletion/duplication symptoms, where duplications are connected with autism and macrocephaly, and deletions with microcephaly and schizophrenia. (exposed-skin-care.net)
2012), possesses the 1q21 also.1 distal deletion/duplication symptoms interval (Mefford et al. (exposed-skin-care.net)
Our data recommend the introduction of genes in human beings may have added to the upsurge in size and intricacy of the individual neocortex at the trouble of susceptibility to 1q21.1 distal duplication/deletion symptoms. (exposed-skin-care.net)

Many cases of NMIBC tumors have a chromosome 9 deletion, which typically occurs early in tumor formation. (medlineplus.gov)
The aim of the present study was to determine the significance of this tumor suppressor gene for ovarian tumorigenesis, investigating both numerical aberrations of chromosome 9 and p16 gene alterations in 28 cases of ovarian tumors, by the fluorescence in situ hybridization (FISH) technique. (iiarjournals.org)

The multiplex ligation‑dependent probe amplification project of the Angel/chubby and copy number variation (CNV) sequencing were assessed concomitantly to identify the pathogenic genes responsible for the development of AS. (spandidos-publications.com)
RESULTS: In 18% of probands, we identify a causal (pathogenic or likely pathogenic) variant of a known hydrocephalus gene, including genes for postnatal, syndromic hydrocephalus, not previously reported in isolated PCH. (bvsalud.org)
65% of the characterized by pathological evidence of ongoing pathogenic changes are large partial deletions. (who.int)

Materials and Methods: To investigate both the presence of numerical abnormalities of chromosome 9 and p16 gene alterations in ovarian cancer, we studied 28 cases by the fluorescence in situ hybridization (FISH) technique using a DNA p16 probe and an a-satellite probe specific for chromosome 9. (iiarjournals.org)
Results: Numerical abnormalities of chromosome 9 were found in all studied cases. (iiarjournals.org)

UBE3A is the only gene in the 15q11-q13 region that indicates biased expression from the maternal allele ( 6 ). (spandidos-publications.com)

The pfhrp2 gene is located on chromosome 8 of the parasite genome, and a paralogous gene ( pfhrp3 ) is located on chromosome 13. (cdc.gov)
Genetic and cytogenetic studies have revealed the presence of several pairing homoeologous ( Ph ) loci that ensure wheat behaves as a diploid during meiosis, with only homologous chromosomes of the same sub-genome (AA, BB or DD) pairing and recombining. (nature.com)
The construction of BAC-based physical maps of individual chromosomes reduces the complexity of this allohexaploid genome, enables elucidation of gene space and evolutionary relationships, provides tools for map-based cloning, and serves as a framework for reference sequencing efforts. (biomedcentral.com)
Here, we provide a chromosome-specific view into the organization and evolution of the D genome of bread wheat, in comparison to one of its ancestors, revealing recent genome rearrangements. (biomedcentral.com)
In the absence of a finished quality genome sequence, insights into wheat genome structure and function have been accumulating through survey sequencing of individual chromosomes or chromosome-specific Bacterial Artificial Chromosome (BAC) libraries. (biomedcentral.com)

Conclusion: Numerical aberrations of chromosome 9 and p16 gene deletion are common findings in ovarian cancer. (iiarjournals.org)
Almost every chromosome is affected by numeric or structural aberrations. (neurotransmitter.net)

Our data indicate, for the first time, a requirement for MAPK signaling in the developing XY gonad in order to facilitate normal expression of SRY and the downstream testis-determining genes and also suggest that reduced dosage of MAP3K4 may be the cause of a previously described autosomal sex-reversing mutation in the mouse. (plos.org)
Deletion 1p36 (del1p36) syndrome is the most common human disorder resulting from a terminal autosomal deletion. (dspace-express.com)

Among the methods used for cytogenetic evaluation was the FISH technique for p16 gene deletion. (iiarjournals.org)

Deletions of pfhrp2 and paralogue pfhrp3 ( pfhrp2/3 ) genes threaten Plasmodium falciparum diagnosis by rapid diagnostic test. (cdc.gov)
Carrier screening is a term used to describe genetic testing that is performed on an individual who does not have any overt phenotype for a genetic disorder but may have one variant allele within a gene(s) associated with a diagnosis. (acog.org)
In order to further clarify the diagnosis, all the suspected genes in her sister and in their parents were sequenced. (spandidos-publications.com)

In normal brain tissues, the maternal UBE3A gene is actively expressed, whereas the paternal UBE3A gene is not. (spandidos-publications.com)
The various characteristics of AS are primarily caused by maternal allele dysfunction of the UBE3A gene and paternal imprinting ( 5 ). (spandidos-publications.com)

Crop wild relatives provide a valuable source of genes and allelic variants for abiotic stress tolerance, disease resistance and quality traits that are important for breeding, particularly in the context of human population growth and a changing climate. (nature.com)
The first stage involved identifying, in unrelated subjects showing linkage to 2q24-q33, genetic variants in exons and flanking sequence within candidate genes and comparing the frequency of the variants between autistic and unrelated nonautistic subjects. (neurotransmitter.net)

In the present study, genes across the 2q24-q33 interval were analyzed to identify an autism susceptibility gene in this region. (neurotransmitter.net)

Analysis of the irradiation-mutant ph2a in comparison to the syntenic region on rice chromosome 1 estimated the deletion to be at least 80 Mb in size 22 , but more likely to span a 120 to 125 Mb region 23 on the terminal portion of 3DS. (nature.com)
Ordering of 80 contigs along the deletion bins of chromosome arm 5DS revealed small-scale breaks in syntenic blocks. (biomedcentral.com)

Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism. (neurotransmitter.net)
CONCLUSIONS: A strong association of autism with SNPs within the SLC25A12 gene was demonstrated. (neurotransmitter.net)

The genetics of chromosome pairing and meiotic recombination is complicated by the allopolyploid nature of many crops, a widespread feature in the plant kingdom 3 . (nature.com)

Bladder cancer is generally divided into two types, non-muscle invasive bladder cancer (NMIBC) and muscle-invasive bladder cancer (MIBC), based on where in the bladder the tumor is located. (medlineplus.gov)
Many of these genes are tumor suppressors, which means they normally help prevent cells from growing and dividing in an uncontrolled way. (medlineplus.gov)
The WT1 -related Wilms tumor (WT) syndromes are a group of hereditary disorders caused by alterations in a gene known as WT1 . (chop.edu)
Higher risk of developing Wilms tumor: The risk of developing Wilms tumor varies, depending upon the WT1 gene alteration that is present. (chop.edu)

Humans normally have 46 chromosomes in each cell, divided into 23 pairs. (medlineplus.gov)
Deletion of DAZ gene is the most common causes of infertility in humans. (ijbs.com)
DAZ (Deleted in Azoospermia) family genes are important fertility factors in many animals including humans. (ijbs.com)

Chromosome Disorder Outreach is a 501(c)(3) non-profit organization. (chromodisorder.org)
We conclude that SPEN is required for multiple developmental processes and SPEN haploinsufficiency is a major contributor to a disorder associated with deletions centromeric to the previously established 1p36 critical regions. (dspace-express.com)

Alteration (amplification or deletion) of TOP2A gene was also significantly related to shorter survival of cancer patients. (jcancer.org)

The expression levels of these genes are tissue-specific and depend on the origin of the parent. (spandidos-publications.com)
Analysis of embryonic XY gonads suggests that sex reversal is caused by delayed and reduced expression of the sex-determining gene SRY . (plos.org)
SPEN also emerges as a relevant gene for del1p36 syndrome by co-expression analyses. (dspace-express.com)
This is not surprising given the strong evidence for interaction between myelin and axon gene expression in development and after experimental nerve lesions. (medscape.com)

Loss of function of the p16 gene has been reported to occur mainly by homozygous deletion, mutation or aberrant DNA methylation of the promoter of the region ( 5 - 8 ). (iiarjournals.org)

In this study, we analyzed exome data of PCH patients in search of novel causal genes and addressed the possibility of an underlying oligogenic mode of inheritance for PCH. (bvsalud.org)
Furthermore, this study identifies novel Mendelian candidate genes, and provides evidence for oligogenic inheritance implicating primary cilia in PCH. (bvsalud.org)

Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (medlineplus.gov)

15q14 deletions (deletions occurring within this region of the long arm of chromosome 15) are known to cause cleft palate, intellectual disability, congenital heart defects, and facial dysmorphism. (chromodisorder.org)

In normal brain tissues, the maternally inherited UBE3A allele is actively expressed ( 7 ), while the paternally inherited UBE3A gene is not. (spandidos-publications.com)

Previous research has reported that forming a double-strand break in the DNA reduces the levels of transcription for the genes that surround the break, but it was not clear how this occurred. (elifesciences.org)

Each of us has a large amount of genetic information that is organized into smaller segments known as "genes. (chop.edu)

This 352-kb segment is known as the minimum critical region because it is the smallest deletion that has been found to cause the signs and symptoms related to 9q22.3 microdeletions. (medlineplus.gov)
Researchers believe that many of the features associated with 9q22.3 microdeletions, particularly the signs and symptoms of Gorlin syndrome, result from a loss of the PTCH1 gene. (medlineplus.gov)
Other signs and symptoms related to 9q22.3 microdeletions probably result from the loss of additional genes in the q22.3 region. (medlineplus.gov)
Physicians, genetic counselors, therapists and other healthcare professionals, register now to help us learn more about rare chromosome disorders: the associated symptoms, new research and evolving treatments. (chromodisorder.org)
2008). deletion of 1 copy frequently network marketing leads to human brain size decrease (microcephaly) and duplication to human brain size boost (macrocephaly), among various other symptoms. (exposed-skin-care.net)

In mammalian cells, inhibiting the transcription of genes around a double-strand DNA break depends on a signaling pathway that is activated whenever DNA damage is detected. (elifesciences.org)
In mammals, whether an individual develops as a male or female depends on its sex chromosome constitution: those with a Y chromosome become males because of the development of the embryonic gonad into a testis. (plos.org)

Affected individuals are missing at least 352,000 base pairs, also written as 352 kilobases (kb), in the q22.3 region of chromosome 9. (medlineplus.gov)
Subsequent physical mapping localised Ph1 to a 2.5 Mbp region on chromosome 5BL 15 . (nature.com)
Research aiming to identify Ph2 has resulted in the isolation of a number of candidate meiotic genes from this region on 3DS. (nature.com)
2006). One particular region is situated on individual chromosome music group 1q21, that was subject to a big pericentric inversion regarding considerable gene reduction and duplication during individual progression (Szamalek et al. (exposed-skin-care.net)
A critical gene is therefore suggested to be located in this region. (biomedcentral.com)

Sex determination in mammals is controlled by the presence or absence of the Y-linked gene SRY . (plos.org)

Negative association findings and research involving the serotonin transporter gene, FMR1, RELN, WNT2, HOXA1, and HOXB1 genes may be found elsewhere on this site . (neurotransmitter.net)

The UBE3A gene plays a regulatory role on the function of specific monoamine transmitters, which are associated with the dynamics of synaptic plasticity. (spandidos-publications.com)

In comparison to Ph1 , the causative gene sequence for Ph2 is yet to be determined. (nature.com)

It is likely that a loss of one or more of these genes plays a role in the early development and progression of bladder cancer. (medlineplus.gov)
As a result, it negatively regulates cyclin-D-dependent phosphorylation of the retinoblastoma (pRb) gene product, thus blocking cell-cycle progression from G 1 -to S-phase ( 2 - 4 ). (iiarjournals.org)

Deletions of part or all of chromosome 9 are commonly found in bladder cancer. (medlineplus.gov)
Studies in the east Africa countries of Eritrea ( 10 ) and Ethiopia ( 11 , 12 ) have found high prevalence of pfhrp2/pfhrp3 deletions, forcing changes away from HRP2-based RDTs to accurately diagnose P. falciparum infections in these countries. (cdc.gov)
A recent report from Djibouti, which borders both Eritrea and Ethiopia, investigated 79 P. falciparum -infected patients and found ≈80% of parasites were lacking both pfhrp2 and pfhrp3 genes ( 13 ). (cdc.gov)

Genes provide the instructions cells of the body need to perform different functions. (chop.edu)

These data reveal a role for MSH7-3D in meiotic stabilisation of allopolyploidy and provides an opportunity to improve wheat's genetic diversity through alien gene introgression, a major bottleneck facing crop improvement. (nature.com)
Data suggest that the p16 gene, located in the short arms of chromosome 9, may play a role in ovarian carcinogenesis. (iiarjournals.org)
Patient and control exome data for genes biologically related to cilia (SYScilia database) were analyzed by mutation burden test. (bvsalud.org)

Here we discuss DAZ family genes in a phylogenic perspective, focusing on the common and distinct features of these genes, and their pivotal roles during gametogenesis evolved during evolution. (ijbs.com)

Researchers are working to determine which missing genes contribute to the other features associated with the deletion. (medlineplus.gov)

Chromosome 9 is made up of about 141 million DNA building blocks (base pairs) and represents approximately 4.5 percent of the total DNA in cells. (medlineplus.gov)
Among them, 25 cases presented deletion of p16 gene in 21.43%-86.3% of the examined cells. (iiarjournals.org)
Results NOTCH2NL is certainly a book NOTCH-like gene NOTCH2NL was originally defined in bloodstream cells being a secreted peptide like the N-terminal part of NOTCH2 (Duan et al. (exposed-skin-care.net)
The WT1 transcription factor turns "on" and "off" other genes that regulate how cells making up the genitourinary system grow and develop. (chop.edu)

We examined 1,002 samples from suspected malaria patients in Djibouti City, Djibouti, to investigate pfhrp2/3 deletions. (cdc.gov)

Individuals with the WAGR syndrome are missing one working copy of the WT1 gene. (chop.edu)
In all species, Boule and Dazl are located in single copy on autosomes, while multiple DAZ genes are located on the Y chromosome. (ijbs.com)

Two single nucleotide polymorphisms (SNPs) that showed evidence for divergent distribution between autistic and nonautistic subjects were identified, both within SLC25A12, a gene encoding the mitochondrial aspartate/glutamate carrier (AGC1). (neurotransmitter.net)

METHOD: Mutation screening of positional candidate genes was performed in two stages. (neurotransmitter.net)

Anatomy55

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Psychiatry and Psychology1

Phenomena and Processes168

Disciplines and Occupations1

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Copies of chromosome3

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Abnormal chromosome1

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Proteins5

Distal4

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15q11-q131

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Varies1

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