Genetic defect. Medical search. Frequent questions

The Apert condition may also result from spontaneous mutations of the genetic material of newborns whose parents have no history of the disorder in their family. (brighthub.com)
The gene-editing method CRISPR has transformed biology, giving scientists the ability to modify genes to treat or prevent genetic diseases by correcting dangerous mutations and to create a host of new genetically modified plants and animals. (scientificamerican.com)
Most mutations cannot be corrected easily without creating these undesirable genetic by-products. (scientificamerican.com)
This technique, however, can only be used to fix four out of the 12 types of "point" genetic mutations, which include insertions, deletions and combinations of the two. (scientificamerican.com)
an autosomal recessive genetic disorder caused by mutations on both copies of the GAN gene. (hnf-cure.org)
Mutations in the HSD3B7 gene cause congenital bile acid synthesis defect type 1. (medlineplus.gov)
TP53 mutations define a maladaptive pathway with enhanced leukemic potential by inactivating tumor suppressor checkpoints without correcting the ribosome defect. (nature.com)
Although a number of collaborating genetic events have been identified in TLX3 rearranged T-ALL patients (NOTCH1 mutations, p15/p16 deletions, NUP214-ABL1 amplifications), further elucidation of additional genetic lesions could provide a better understanding of the pathogenesis of this specific T-ALL subtype. (prinsesmaximacentrum.nl)
The study showed that mice that had these types of protein mutations had enamel defects in their teeth, demonstrating a direct link. (dentaluxpa.com)
This study about genetic defects in tooth enamel is especially exciting, as it broadens our understanding of tooth enamel, how mutations can impact that enamel and the critical connection between molecular and biological development. (dentaluxpa.com)
All people are at risk of diseases due to genetic mutations. (who.int)

Sometimes more than 1 type of test needs to be done, because not all tests detect both chromosomal abnormalities and neural tube defects. (msdmanuals.com)
Every year, approximately 300,000 children around the world are born with neural tube defects (NTD). (cdc.gov)
Multifactorial disorders are usually categorized as congenital malformations , such as neural tube defect, cleft lip and palate, or diseases with a genetic predisposition , such as some chronic, noncommunicable diseases. (who.int)
Available evidence indicates that 0.4 mg (400 ug) per day of folic acid, one of the B vitamins, will reduce the number of cases of neural tube defects (NTDs). (cdc.gov)
Each year in the United States about 2,500 infants are born with the neural tube defects (NTDs) spina bifida and anencephaly. (cdc.gov)

Making such double-stranded breaks in DNA can result in unwanted genetic material being inserted or deleted, which can have consequences including activating genes that cause cancer. (scientificamerican.com)
Specialists in a genetic laboratory then analyse the individual genes. (cbdmp.org)
generates genetic information respectively a gene (human beings have about 20,000 genes). (ethz.ch)
With current diagnostic technology for genetic disorders, it is possible to map all 20,000 genes in our DNA at once. (radboudumc.nl)
Reading out their genes had previously revealed no cause, even though there was a very strong suspicion of a hereditary defect in this group of patients. (radboudumc.nl)
While it's still important to limit your sweets and practice healthy dental hygiene, a recent study by researchers at the University of Zurich has shown that mutated genes may lead to defects in one's tooth enamel, which can make certain people more susceptible to developing tooth decay. (dentaluxpa.com)
Within this study, we aimed to further assess the implication of the ROBO and SLIT genes mainly in bicuspid aortic valve (BAV) and other human congenital heart defects (CHD). (bvsalud.org)
The remaining ROBO and SLIT genes may be screened in patients with negative or inconclusive genetic tests. (bvsalud.org)
Additionally, a genetic network for the MKRN3 gene, mimicking a holistic regulatory depiction of the crosstalk between MKRN3 and other genes was designed. (frontiersin.org)
Increased knowledge of genomics over the past two decades has made it apparent that the traditional category of genetic diseases represents only those conditions in which the genetic contribution is particularly marked, whereas in fact diseases can be arrayed along a spectrum representing the varied contribution of genes and the environment. (who.int)
These conditions are described as genetic diseases because a defect in one or more genes or chromosomes leads to a pathological condition. (who.int)

All centers work together on the National Birth Defects Prevention Study (NBDPS). (washington.edu)

A hereditary genetic defect in 15 percent of cases meant that patients were no longer able to produce the elongator complex protein 1 (ELP1) in the tumor. (dkfz.de)
By analyzing the genome of some parents and grandparents, the researchers also established that the cancer-activating ELP1 genetic defect is hereditary. (dkfz.de)
Prenatal testing for genetic disorders and birth defects involves testing a pregnant woman or fetus before birth (prenatally) to determine whether the fetus has certain abnormalities, including certain hereditary or spontaneous genetic disorders. (msdmanuals.com)

In principle, it could correct about 89 percent of known human genetic defects that cause diseases, although it is still a very new technique and requires much more study before it can be used to treat humans. (scientificamerican.com)
It allows for early detection of predisposition to about 300 serious genetic diseases - mainly metabolic disorders, cardiovascular diseases and oncological diseases. (cbdmp.org)
This allows a very precise genetic evaluation and determination of the risk of occurrence of almost 300 diseases (predisposition to cancer, metabolic diseases, epilepsy, cardiovascular diseases, diseases of connective tissue). (cbdmp.org)
As you can see, only the PlumCare DNA Advisor genetic test is performed from the baby's umbilical cord blood or saliva after birth (i.e. it is completely non-invasive) and allows early detection of predisposition to around 300 serious genetic diseases (the whole genome is analysed, not individual chromosomes). (cbdmp.org)
It is the prototype of the primary immunodeficiency diseases and is caused by numerous molecular defects that lead to severe compromise in the number and function of T cells, B cells, and occasionally natural killer (NK) cells. (medscape.com)
The Non-invasive prenatal genetic testing (NIPT) is the latest genetic testing technology that allows you to know the risk of your baby having genetic diseases as early as the 10th week of pregnancy with just 10ml of the blood sample from the mother. (100comments.com)
The test items include checking all your baby's chromosomes (the media that contains genetic material, 23 pairs in total) for any Abnormalities / Trisomies (such as Down Syndrome, Patau Syndrome, and Edward Syndrome), sex chromosome syndrome Aneuploidies (Gender-related genetic defects), and 84 other most common genetic diseases in Asia (such as Cri-Du-Chat Syndrome, Di George Syndrome and many more). (100comments.com)
At very affordable prices, the Non-invasive prenatal genetic testing (NiPT) is now a test that every parent must do, because genetic diseases can occur spontaneously and without warning. (100comments.com)
CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) -Cas9 is a promising gene-editing technology which could have wide applications, from curing many genetic diseases to developing drought-tolerant crops. (eurekalert.org)
Prenatal genetic screening is offered during pregnancy to detect foetuses that have certain diseases. (iium.edu.my)
Learn how Jessica used preimplantation genetic testing for (PGT-M) to prevent transmission of degenerative diseases to her children. (reproductivefacts.org)
However, this report focuses on the traditional category of genetic diseases and associated congenital malformations , both of which conditions are manifested early in life and for which clinical interventions are available. (who.int)
Multifactorial disorders, on the other hand, where genetic and environmental factors interact, have not traditionally been considered to be genetic diseases. (who.int)
In the literature, congenital malformations are often associated with genetic diseases because they both tend to present during pregnancy, at birth or in early childhood. (who.int)
Clinical genetics services provide care for people with both categories of disease, and registries of birth defects collect information about genetic diseases and congenital malformations. (who.int)
Some genetic diseases, such as haemophilia, are carried on the X-chromosome (these X-linked disorders occur mainly in men). (who.int)
The higher prevalence of genetic diseases in particular communities may, however, be due to some social or cultural factors. (who.int)
The control of genetic diseases should be based on an integrated and comprehensive strategy combining best possible treatment and prevention through community education, population screening, genetic counselling and the availability of early diagnosis. (who.int)

A Washington State court of appeals upheld a jury verdict of $25 million in damages to an infant born with severe deficits as a result of an undetected genetic defect and $25 million to his parents for their wrongful-life and wrongful-birth claims. (ecri.org)
PlumCare DNA Advisor genetic testing involves taking a sample of the baby's cord blood or saliva after birth. (cbdmp.org)
Many serious disorders have now been identified as having a genetic basis, and treatment for birth defects has improved considerably. (infobasepublishing.com)
Substantially updated, The Encyclopedia of Genetic Disorders and Birth Defects, Third Edition offers lay readers and professionals alike the most comprehensive single-volume reference to congenital disorders and birth defects. (infobasepublishing.com)
For other noninvasive or invasive tests for fetal genetic abnormalities or birth defects, prospective parents should discuss the accuracy of the test and any risks with their health care professional. (msdmanuals.com)
Birth defects appear in about 1 in 33 babies. (washington.edu)
Most birth defects are caused by a complex mix of factors including genetic, environmental and lifestyle factors. (washington.edu)
For the most part, these factors are not understood and it is rare to see many babies born with the same birth defect. (washington.edu)
In order to combine efforts and increase the capacity of state programs to carry out research on the etiology of birth defects, special centers were set up in different regions of the country to collect phenotypic information and biological materials from children with birth defects and their parents. (washington.edu)
The CDC has established centers in states with existing birth defect programs that have nationally recognized expertise in birth defects surveillance and research. (washington.edu)
The NBDPS is one of the largest case-control studies ever done on the causes of birth defects. (washington.edu)
Case mothers are women who have had babies or pregnancies affected by birth defects and control mothers had babies with no birth defects. (washington.edu)
This research will increase our understanding of the causes of birth defects and provide information that can be used to prevent birth defects. (washington.edu)
Other times selective reduction is used when fetuses are considered to be at a great risk for having a birth defect. (information-on-surrogacy.com)
Birth defects are serious conditions that involve changes to the structure of one or more parts of the body. (cdc.gov)
While the causes of many birth defects are still unknown, their importance and the impact on peoples' lives are quite clear. (cdc.gov)
Birth defects are common, occurring in 1 of every 33 babies born every year in the United States. (cdc.gov)
Depending on the severity of the defect, the expected lifespan of a person with a birth defect can be greatly reduced. (cdc.gov)
In 2011, of the 24,000 infants that died in their first year of life, 4,800 succumbed due to a birth defect. (cdc.gov)
Additionally, birth defects are a leading cause of pediatric hospitalizations and medical expenditures. (cdc.gov)
It is estimated that 2.6 billion US dollars are spent annually in caring for infants, children, and adults living with a birth defect. (cdc.gov)
CDC and its partners are working together to identify both genetic and environmental risk factors that may contribute to the development of birth defects. (cdc.gov)
Folic acid fortification has been a major success in the prevention of some types of birth defects and there is ongoing research on the impact of interventions that target obesity, smoking, and diabetes. (cdc.gov)
We have made great advances, but there is still much that can be done to understand and prevent birth defects. (cdc.gov)
In this session of Grand Rounds we discussed some of the research underway to identify the risk factors for birth defects and develop the key intervention strategies that can be used to help ensure that every child is born in the best possible health. (cdc.gov)
Dr. John Iskander and Dr. Allen Mitchell discuss some of the public health advances in preventing birth defects. (cdc.gov)
Birth defects are common, occurring in 1 in 33 pregnancies and affecting 120,000 babies born each year. (cdc.gov)
While the vast majority of their causes remain unknown, there is much that public health workers and individuals can do to reduce the risk of birth defects. (cdc.gov)
Birth defect number one. (mypetsdoctor.com)
Birth defect number two. (mypetsdoctor.com)
It is not unusual for multiple birth defects such as these to appear in an individual pet. (mypetsdoctor.com)
When your pet's doctor recommends that you not breed a dog with a birth defect he is not only encouraging you to be a soldier in the war against pet overpopulation, he is being responsible in limiting breeding to those specimen animals who are examples of the best. (mypetsdoctor.com)
Breeding animals with even one birth defect (and possibly more hidden ones) lowers the quality of an entire breed. (mypetsdoctor.com)
Birth Defects Res. (cdc.gov)
It is widely used in the detection of congenital malformation which results in foetal birth defects. (iium.edu.my)
Time magazine recently reported that there are questions about whether the drug causes birth defects, whether it's being used with proper informed consent, and whether such off-label experimental drug use should require IRB oversight (as many experts argue that it should, though it doesn't presently). (scienceblogs.com)
Birth defects, which occur in nearly one in 20 pregnancies, range in severity from minor anatomic abnormalities to extensive genetic disorders or mental retardation. (reproductivefacts.org)
Some couples have a greater than average risk of having a child with a birth defect. (reproductivefacts.org)
Some people have abortions because they can not support the child and also to prevent the birth of a child with birth defects or severe medical problems. (bartleby.com)
In the developed world, genetic and congenital disorders are the second most common cause of infant and childhood death, occurring with a birth prevalence of 25-60 per 1000, with the higher figure being derived from fuller sets of data. (who.int)
Spina bifida and anencephaly are common and serious birth defects. (cdc.gov)
In addition, an unknown number of fetuses affected by these birth defects are aborted. (cdc.gov)
Further studies are required to assess the prevalence of spontaneous abortions, birth defects, and genetic syndromes in agricultural communities. (cdc.gov)

In recent years, doctors and scientists have made great strides in increasing our knowledge of hundreds of genetic disorders. (infobasepublishing.com)
Some Genetic Disorders That. (msdmanuals.com)
This result provides guidance to fellow researchers worldwide on how to use this method to diagnose patients with genetic disorders. (radboudumc.nl)
Although some disorders occur because of spontaneous mutation, many genetic disorders are inherited. (dogjudging.com)
Genetic factors are involved to a greater or lesser extent in congenital malformations (conditions with which an animal is born), metabolic disorders, disorders of immune function, disorders associated with aging, and cancer. (dogjudging.com)
There are a number of causes of hypogonadism, including stress, elevated prolactin levels, and several genetic disorders. (encyclopedia.com)
Because of their historical association, this report will consider both genetic disorders and congenital malformations. (who.int)
the Jeffrey Modell Foundation (JMF) advocates for early diagnosis and treatment of genetic immunodeficiency disorders. (cdc.gov)
Primary immunodeficiency disorders (PI) are inherited (genetic) defects in the immune system. (cdc.gov)

The NIFTY test involves isolating genetic material from the foetus from the mother's blood and then analysing it for chromosome abnormalities. (cbdmp.org)
As part of the NBDPS, our local lab is investigating the etiology and pathogenesis of malformations of the heart, concentrating on abnormalities of the left side of the heart and outflow tract defects. (washington.edu)
MSI-H and dMMR are types of genetic abnormalities that affect cells' internal mechanisms to repair DNA damage. (medpagetoday.com)
At that point, if no genetic abnormalities have been detected, the doctor will typically abort the ones that are the easiest to reach. (information-on-surrogacy.com)
T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive neoplastic disorder, in which multiple genetic abnormalities cooperate in the malignant transformation of thymocytes. (prinsesmaximacentrum.nl)

According to The National Institutes of Health (2008) Apert syndrome is a rare genetic disorder whose main condition is craniosynostosis, that is the premature fusion of skull bones, affecting, thus the face and head of the patient. (brighthub.com)
Congenital bile acid synthesis defect type 1 is a disorder characterized by cholestasis, a condition that impairs the production and release of a digestive fluid called bile from liver cells. (medlineplus.gov)
To understand the mechanisms that mediate germline genetic leukemia predisposition, we studied the inherited ribosomopathy Shwachman-Diamond syndrome (SDS), a bone marrow failure disorder with high risk of myeloid malignancies at an early age. (nature.com)
Down's syndrome (trisomy 21) was the most common (168.8%) genetic disorder followed by Turner's syndrome, Philadelphia chromosome, Klinefelter's syndrome, Edward's syndrome (trisomy 18) and Patau's syndrome (trisomy 13). (aku.edu)
What is a genetic disorder? (dogjudging.com)
A genetic disorder is one in which an abnormality in the genetic make-up (the genome) of the individual plays a significant role in causing the condition. (dogjudging.com)
Persons with a genetic primary immunodeficiency disorder (PI, see Box) can carry replicating VDPVs in their intestines and potentially transmit them to their contacts. (cdc.gov)

Apert syndrome is a genetic disease (or genetic defect) caused by a mutated gene. (brighthub.com)
Prime editing" offers a way to precisely edit any type of " point" genetic mutation, with potentially fewer off-target effects than other gene-editing methods. (scientificamerican.com)
A recessive mutation that causes a congenital craniofacial defect in Burmese cats has been identified by the Lyons Feline Genetics Research Laboratory at UC Davis.The mutation affects function of a gene significant for facial development. (laboklin.co.uk)
Such gene defects increase with increasing age. (ethz.ch)
As a result a weakening of the cell-internal repair mechanism can indirectly increase the number of gene defects in a cell. (ethz.ch)
An activated (expressed) gene forms (synthesises) according genetic information "blueprint" Proteins with defined functions in cell metabolism. (ethz.ch)
With the advances in BMT and gene therapy, patients now have a better likelihood of developing a functional immune system in a previously lethal genetic disease. (medscape.com)
In addition, 19 other genetic lesions were detected once in TLX3 rearranged T-ALL cases, including a cryptic WT1 deletion and a deletion covering the FBXW7 gene, an U3-ubiquitin ligase that mediates the degradation of NOTCH1, MYC, JUN and CyclinE. (prinsesmaximacentrum.nl)
Our results further reinforce the implication of the ROBO4 gene not only in BAV but also in ToF hence the importance of its inclusion in clinical genetic testing . (bvsalud.org)
Unlike traditional gene therapy where additional copies of the normal gene are introduced into cells, CRISPR-Cas9 "repairs" the defects on site by removing the problematic DNA or correcting it to restore normal gene functions. (eurekalert.org)
Due to genetic and phenotypic heterogeneity, it can be difficult to identify the underlying gene defect from the clinical symptoms. (lu.se)

Diagnosis of genetic defects by chromosomal analysis. (aku.edu)
Dive into the research topics of 'Diagnosis of genetic defects by chromosomal analysis. (aku.edu)

Genetic defects sometimes result in changes in the chromosomes. (encyclopedia.com)

The first babies born after preimplantation genetic diagnosis were conceived in late 1989. (wikipedia.org)

Despite the heterogeneity in the pathogenesis of immune defects, common cutaneous manifestations and typical infections can provide clinical clues in diagnosing this pediatric emergency. (medscape.com)
These results mechanistically link leukemia predisposition to germline genetic constraints on cellular fitness, and provide a rational framework for clinical surveillance strategies. (nature.com)
A cross-sectional clinical genetic study of a Saudi family. (nih.gov)

In light of a paternal family history of a child born with an inheritable genetic defect and results of a genetic test performed on the plaintiff father, the couple was aware that they faced a 50% chance that any baby they conceived would have unbalanced genetic translocations likely to result in 'physical differences' and learning disability or mental retardation. (ecri.org)
It usually takes several weeks before the results of a genetic test are available. (cbdmp.org)

Two copies of the mutant allele can cause severe craniofacial defect that is severe enough to be compatible with life. (laboklin.co.uk)

Concomitant metabolic or genetic syndromes can make atrial septal defect device closure difficult. (authorea.com)
Thus, OP exposure could interfere with sperm chromosome segregation and increase the risk for genetic syndromes, such as Turner's. (cdc.gov)

Genetic predisposition to myeloid malignancy comprises a separate disease entity in the WHO classification 1 . (nature.com)

WASHINGTON -- In an unprecedented move, the FDA today granted accelerated approval to the cancer drug pembrolizumab (Keytruda) for treatment of any unresectable or metastatic solid tumor associated with the genetic abnormality known as microsatellite instability. (medpagetoday.com)

Bile is used during digestion to absorb fats and fat-soluble vitamins, such as vitamins A, D, E, and K. People with congenital bile acid synthesis defect type 1 cannot produce (synthesize) bile acids, which are a component of bile that stimulate bile flow and help it absorb fats and fat-soluble vitamins. (medlineplus.gov)
The signs and symptoms of congenital bile acid synthesis defect type 1 often develop during the first weeks of life, but they can begin anytime from infancy into adulthood. (medlineplus.gov)
Excess fat in the feces (steatorrhea) is an additional feature of congenital bile acid synthesis defect type 1. (medlineplus.gov)
If left untreated, congenital bile acid synthesis defect type 1 often leads to cirrhosis and death in childhood. (medlineplus.gov)
however, it is the most common of all the congenital defects of bile acid synthesis. (medlineplus.gov)
As a result, cholesterol and other fats build up in the liver and fat-soluble vitamins are not absorbed, which contribute to the signs and symptoms of congenital bile acid synthesis defect type 1. (medlineplus.gov)
Bile acid synthesis defects may manifest in the neonatal period or later. (ddccliniclab.org)

1 in 70 Malaysian Babies gets Genetic Defects! (100comments.com)

The hospital scheduled genetic testing to be done on New Year's Eve-a day when no genetic counselor was working at its fetal medicine clinic. (ecri.org)

If every genetic center starts doing this, and we have now shown that this can be done easily without additional experiments, you can obtain a diagnosis for a lot of patients for whom the cause of their condition has remained unknown. (radboudumc.nl)

Identify the genetic defect underlying MCPH in a Saudi family. (nih.gov)

This video series was created to provide information to patients on genetics and genetic testing in conjunction with infertility and in vitro fertilization treatment. (reproductivefacts.org)

Patients with exogenous immunosuppres- consideration of underlying host genetic factors. (cdc.gov)

The research team's finding was based on a rigorous evaluation of 24 targeted human genetic locations comparing the original unmodified (wild-type) SaCas9 and the new SaCas9-HF. (eurekalert.org)

The actual genetic information is stored in the DNA. (ethz.ch)
Sequencing and other techniques may reveal the actual genetic defects in these patients. (medscape.com)

Examples of validation methods for various genetic and cellular effects. (ethz.ch)
They were the first to use molecular, biochemical and genetic methods to do a detailed study of tooth enamel. (dentaluxpa.com)

These are the findings of a recent genetic analysis carried out by scientists from the Hopp Children's Cancer Center (KiTZ), the European Molecular Biology Laboratory (EMBL) and numerous colleagues around the world, which have just been published in the scientific journal Nature. (dkfz.de)
The researchers suspect that protein metabolism defects could be a previously underestimated cause of other types of cancer. (dkfz.de)
Together with colleagues from EMBL, the German Cancer Consortium (DKTK) and the St. Jude Children's Research Hospital in Memphis, USA, the KiTZ researchers conducted the most comprehensive medulloblastoma-related genetic investigation to date. (dkfz.de)
Cancer exploits the defects to perpetuate the development of abnormal cells. (medpagetoday.com)

That makes this the most common congenital genetic defect associated with medulloblastoma to date", says Jan Korbel, a co-author of the study who works at EMBL. (dkfz.de)
More common in lyretail strain due to the normal genetic modifications of added fin growth. (fishlore.com)

A prenatal test such as the PAPP-A test can also detect genetic defects. (cbdmp.org)

These molecular defects interfere with lymphocyte development and function, blocking the differentiation and proliferation of T cells and, in some types, of B cells and NK cells. (medscape.com)
Now a large and ever increasing number of genetic subtypes has been described, and major advances in molecular and cellular biology have clarified the understanding of the role of different proteins in the physiology of peripheral nerve conduction in health and in disease. (medscape.com)

They analyzed the genome and tumor genome of 800 children, young people and adults with medulloblastoma and compared the genetic data with data from healthy individuals. (dkfz.de)

There is no cure for the Apert syndrome genetic defects, but there is much that can be done to manage the symptoms of the disease, including surgery to separate fused bones (most patients will require several operations), and speech therapy to help overcome difficulties with talking that are encountered by some people. (brighthub.com)
The child may have genetic irregularities, such as Down syndrome. (bartleby.com)

Dental radiographs can reveal defects in both tooth structure and alveolar bone. (medscape.com)
Is There a Link Between Genetic Defects in Tooth Enamel and Tooth Decay? (dentaluxpa.com)

Cats with one copy of the mutation will not have craniofacial defect but may produce a shortened facial structure (brachycephaly). (laboklin.co.uk)

If it comes to light that a fetus has a serious medical defect, the intended parents may decide that the fetus should be aborted. (information-on-surrogacy.com)

To study the genetic defects in patients with asthenozoospermia. (nih.gov)
The patients' spermatozoa displayed multiple midpiece defects, including absent MS and central pair, scattered or forked axoneme and incomplete plasma membrane. (nih.gov)

The material is analysed in a genetic laboratory using the WES method (Whole Exome Sequencing), i.e. the whole exome is examined. (cbdmp.org)
Whole-exome sequencing and Sanger sequencing were performed for genetic analysis. (nih.gov)

The elongator complex protein is involved in ensuring that proteins are properly assembled and folded in line with the genetic code. (dkfz.de)

Papanicolaou staining, HE staining, immunofluorescent staining, transmission electron microscopy and field emission scanning electron microscopy were employed to observe the morphological and structural defects of the spermatozoa and testes. (nih.gov)
Spermatozoa from Armc12 -/- mice showed parallel defects in the midpiece. (nih.gov)

Anatomy31

Organisms9

Diseases61

Chemicals and Drugs46

Analytical, Diagnostic and Therapeutic Techniques and Equipment35

Psychiatry and Psychology4

Phenomena and Processes81

Disciplines and Occupations1

Anthropology, Education, Sociology and Social Phenomena3

Information Science3

Named Groups3

Health Care4

Geographicals2

Mutations11

Neural5

Genes11

National Birth Defects Prevention Study1

Hereditary3

Diseases18

Birth43

Disorders9

Abnormalities5

Disorder7

Gene11

Chromosomal2

Chromosomes1

Preimplantation genetic d1

Clinical3

Results of a genetic test2

Severe1

Syndromes2

Predisposition1

Abnormality1

Synthesis7

Babies1

Fetal1

Diagnosis1

Identify1

Genetics1

Host genetic factors1

Human genetic1

Actual genetic2

Methods2

Cancer4

Common2

Detect1

Molecular2

Tumor1

Syndrome2

Tooth2

Mutation1

Parents1

Patients2

Sequencing2

Protein1

Spermatozoa2