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searching for Penetrance 171 found (345 total)

alternate case: penetrance

Hereditary multiple exostoses (2,521 words) [view diff] exact match in snippet view article find links to article

manifesting it. The 96% penetrance figure comes from only one study. Other studies have observed both incomplete and variable penetrance but without calculating

carriers. The penetrance of paraganglioma in loss of function mutations of SDH is incomplete and varies by subunit. SDHB mutations have a penetrance between

induced tumour stabilisation or shrinkage in 90% of patients. Its lack of penetrance in the brain and non-optimal specificity for ALK meant resistance mostly

Diabetes and deafness (DAD) or maternally inherited diabetes and deafness (MIDD) or mitochondrial diabetes is a subtype of diabetes which is caused from

does contribute to neurodevelopmental problems in some individuals, the penetrance is likely to be very low. To understand this point, it is important to

paralysis. PC typically presents within the first decade of life and has 100% penetrance. Patients with this disorder commonly present with myotonia in the face

syndrome is inherited in an autosomal dominant manner with incomplete penetrance and variable expressivity.” Prenatal diagnosis for pregnancies at increased

and is characterized by autosomal dominant inheritance with complete penetrance of variable expressivity. The genes that have been identified in approximately

an increased risk of breast cancer. The risk allele rs3803662 is a low-penetrance SNP (single nucleotide polymorphism) associated with decreased expression

Balmain A (August 2003). "Identification of Stk6/STK15 as a candidate low-penetrance tumor-susceptibility gene in mouse and human". Nat. Genet. 34 (4): 403–12

hypothesized to be either X-linked recessive or autosomal dominant with reduced penetrance. "Hirschsprung disease: MedlinePlus Genetics". RESERVED, INSERM US14--

of Panay, is a rare X-linked progressive movement disorder with high penetrance found almost exclusively in males from Panay. It is characterized by dystonic

of MSK is common and has an autosomal dominant inheritance, a reduced penetrance, and variable expressivity. Other theories suggest that dilatation of

collaboration to explore return of genomic results and better understand penetrance in a population-based cohort of underrepresented minorities. He has led

ulnae bone. It is inherited as an autosomal dominant trait with reduced penetrance. This disorder was first discovered in 1967, by Roberts et al. when he

gene with equal distribution between the sexes. The disease has high penetrance at about 96% but the phenotypic expression varies from lower lip pits

recessive, x-linked, or y-linked. Partial penetrance can be shown and calculated from pedigrees. Penetrance is the percentage expressed frequency with

disease—in particular aortic and thoracic aneurysms. The disorder has variable penetrance, ranging from severely symptomatic and fatal in early neonatal period

chromosome, and it is inherited in an X-linked dominant manner with full penetrance, because of this, it mostly affects males. Prevalence is unknown, although

sensorineural deafness. Transmission is autosomal dominant with incomplete penetrance. Individuals with this condition usually have palmoplantar keratoderma

vivo use. CA77.1 is able to activate CMA in vivo, and demonstrates brain penetrance and favorable pharmacokinetics. It has been shown in animal studies that

is atypical of dominant inheritance, showing the phenomenon of partial penetrance, whereby a dominant mutations appear to "skip" generations. This is thought

This is transmitted through an autosomal dominant pattern with complete penetrance and variable expressivity. Treatment of glaucoma in iridogoniodysgenesis

dominant form of anophthalmia. This form of anophthalmia has variable penetrance and a unique maternal inheritance effect that is rooted in pregnancy.

et al. (August 2009). "Cerebellothalamocortical connectivity regulates penetrance in dystonia". J. Neurosci. 29 (31): 9740–7. doi:10.1523/JNEUROSCI.2300-09

been reported, but are found at a much lower frequency and with variable penetrance, suggesting the involvement of other genes. Project MinE is a research

has an autosomal dominant pattern of inheritance, with an incomplete penetrance. Furthermore, the human leukocyte antigen involved in this condition are

abilities of different soil types have been shown to enhance disease penetrance into a population. Soil containing the common clay mineral montmorillonite

progress rapidly.[citation needed] FXTAS has shown strong age-dependent penetrance, affecting older premutation carriers with greater prevalence. Male carriers

blood-brain barrier. Compared to gantenerumab, it has 50 times as much penetrance into the brain. Grimm, Hans Peter; Schumacher, Vanessa; Schäfer, Martin;

46 gene causes autosomal dominant congenital cataract with incomplete penetrance". J. Med. Genet. 41 (8): e106. doi:10.1136/jmg.2004.018333. PMC 1735867

well as in three unaffected family members, demonstrating incomplete penetrance and variable expressivity.[citation needed] There are several hundred

produces receptors with increased sensitivity to acetylcholine and has a low penetrance. Some families have been shown to not have mutations in CHRNA4 and, furthermore

A, Breza M, Karadima G, Koutsis G (June 2021). "Wide range of reduced penetrance alleles in spinal and bulbar muscular atrophy: a model-based approach"

many cases. An autosomal dominant inheritance pattern with incomplete penetrance and associated inherited dysplasia of the optic disc and its blood supply

paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia". Am. J. Hum. Genet. 71 (6): 1303–11. doi:10.1086/344531

(2021-03-01). "A report of two atypical genetic cases of cherubism: Reduced penetrance and sporadic occurrence". Journal of Oral and Maxillofacial Surgery, Medicine

Scott that the disease has an "autosomal dominant gene with decreased penetrance or gonadal mosaicism." Evans et al. have also defined Hecht Scott syndrome

wide variety of symptoms which is why misdiagnosis is often a reality. Penetrance of the pathogenic variants for the ODC1 gene is believed to be 100%. Alopecia

screened population. However, there are ongoing studies to assess the penetrance and the cancer risk in the hereditary lobular breast cancer syndrome.

melanoma cells are controlled by keratinocytes in the epidermis that inhibit penetrance beyond the basement membrane. The control by keratinocytes are only achieved

PMID 10448738. Asai-Coakwell M, French CR, Ye M, et al. (2009). "Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal

J, Carracedo A (January 2009). "Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control

severe manifestation of an autosomal dominant condition with incomplete penetrance and variable expressivity. There are several genetic pathways that could

Asimov's, a collaboration with Michael Poore, Oct/Nov 2009. "Limited Penetrance, Variable Expression," The Human Genre Project, July 2009. "The Ascendant

when referring to X-linked inheritance, stating that the highly variable penetrance of X-linked traits in females as a result of mechanisms such as skewed

features, it is inherited in an autosomal dominant manner with decreased penetrance and variable expression, the disease is referred to as familial TAAD.

located on chromosome 4. They are autosomal-dominant diseases with complete penetrance and variable expressivity. Due to the same genetic mutation, these diseases

most of these mutations are extremely rare and often show incomplete penetrance (i.e., an unaffected parent or other relatives may also carry the mutation)

AF, Inglehearn CF, Churchill AJ (Jun 2001). "Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy". Human Molecular Genetics

McGee, TL; Devoto, M; Ott, J; et al. (November 1997). "Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is

phalange. It is thought to be an autosomal dominant trait with reduced penetrance. This condition can be diagnosed by physical examination and radiographic

eventually goes away during puberty. Several inheritance patterns with varying penetrance and expressivity have been proposed, such as a familial pattern with either

deletion, and the disease occurs as autosomal dominant with incomplete penetrance, meaning that about 20% of AIP mutation carriers will develop a pituitary

requiring a wheelchair by age 50. 30% of cases involve spontaneous mutations. Penetrance and severity seem to be lower in females compared to males. Limb–girdle

with mutations in SDHA is called "Paragangliomas 5" with likely lower penetrance than other SDHx mutations. Bi-allelic mutations in SDHA are known to be

Benítez J, Carracedo A (Jan 2009). "Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control

is somewhat prevalent in Cyprus. Mean age of onset was 46 years, and penetrance is estimated to be 28%, both of which differ from the Portuguese and Swedish

phenotypes associated with this condition due to its sometimes incomplete penetrance, this means that, even in the same family, people can have varying degrees

is inherited in an autosomal dominant manner, but it shows incomplete penetrance with up to 40% of people with a FAS mutation not showing symptoms. In

Genetic counseling should be provided to affected and at-risk individuals; penetrance is incomplete for the majority of subtypes. Clinically, FTDP-17 may resemble

studies suggest that BAV is an autosomal dominant condition with incomplete penetrance. Other congenital heart defects are associated with bicuspid aortic valve

Sabino A, Bertini E, Santorelli FM, Servidei S (June 2004). "Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene". Neurology

(January 2010). "The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family"

(1997). "A Locus for Autosomal Recessive Pseudoxanthoma Elasticum, with Penetrance of Vascular Symptoms in Carriers, Maps to Chromosome 16p13.1". Genome

languages. La vie à foison, poetry (1975) D'amour et de cendre, poetry (1977) Pénétrance, poetry (1981), received the Prix Charles Plisnier [fr] Haute enfance

research and observations, these mutations seem to have an incomplete penetrance and some degree of codominance. It has a prevalence of 1.0–2.5% in people

different genetic backgrounds, epigenetic modifiers and delayed/complete penetrance. The mutation of Pitx2 is not defined as the cause of these congenital

with CAR T cell therapy).[citation needed] Primary HLH is caused by high-penetrance variants in genes associated with the syndrome, and thus is part of the

Salas A, Milne RL, et al. (2009). "Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control

Badarnah K, Brik R (August 2001). "Familial Mediterranean fever: prevalence, penetrance and genetic drift". European Journal of Human Genetics. 9 (8): 634–7.

Klijn J, Wasielewski M, de Snoo A, Oldenburg R, et al. (May 2002). "Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers

arrhythmogenic right-ventricular dysplasia characterized by early onset and high penetrance maps to chromosome 10p12-p14". American Journal of Human Genetics. 66

laut.de pointed out that the songs are characterized by a high level of "penetrance and pettiness" and that the record "hits the listener where it hurts the

Balmain A (August 2003). "Identification of Stk6/STK15 as a candidate low-penetrance tumor-susceptibility gene in mouse and human". Nat. Genet. 34 (4): 403–12

most of which behave in an autosomal dominant manner with low clinical penetrance. Clinically, patients with EPP present with a range of symptoms, from

(6q23.3). Inheritance appears to be autosomal dominant with variable penetrance.[citation needed] It appears that two copies of this gene are required

that the disorder was inherited as an autosomal dominant with incomplete penetrance in both populations. Although they concluded that the gene frequency was

T (April 2015). "Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease". Cell. 161 (3):

causes disseminated LAV infection and recurrent natural viral infections. Penetrance is not complete for several viral infections and for complicated live

1002/ajpa.22937. ISSN 0002-9483. PMC 5066702. PMID 26799452. "Clinical Penetrance of HFE Hereditary Hemochromatosis, Serum Ferritin Levels, and Screening

June 2021). "Cis-acting modifiers in the ABCA4 locus contribute to the penetrance of the major disease-causing variant in Stargardt disease". Human Molecular

X-linked recessive manner, although autosomal dominance with reduced penetrance wasn't excluded as an inheritance pattern. It is more common in males

Benítez J, Carracedo A (Jan 2009). "Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control

inheritance and a high degree of allelic heterogeneity with incomplete penetrance. Most heterozygotes are asymptomatic. Symptoms do not occur unless FECH

background. Inheritance of these disorders is autosomal dominant with variable penetrance.[citation needed] Because CAPS is extremely rare and has a broad clinical

presentation in affected offspring is quite variable, suggesting incomplete penetrance. In 2009, a group led by Dr. Kathryn Meurs at Washington State University

only mandates adequate drug levels in the urine and does not require penetrance of the prostate, thus many antibiotic choices with a safer side effect

Arab family with an apparent autosomal dominant inheritance and reduced penetrance: Clinical and genetic analysis". American Journal of Medical Genetics

early embryonic stage; autosomal dominant inheritance with incomplete penetrance and, finally, the theory of Happle. During the first few weeks after birth

loss-of-function KCNE1 variants predispose to QT-prolongation, however the low ECG penetrance observed suggests they do not manifest clinically in the majority of individuals

activity are also poorly characterized and may affect the variability and penetrance of GS. Despite the fact that hyperbilirubinemia in GS is associated with

mutations that cause the disease are X-linked recessive with incomplete penetrance in heterozygous females. The condition affects hemizygous males (i.e.

PMID 11175293. Demelas L, Serra G, Conti M, et al. (2001). "Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene". Neurology

genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance". American Journal of Human Genetics. 81 (4): 799–807. doi:10.1086/520001

haploinsufficiency. It is associated with variable expressivity; complete penetrance has been definitively documented. Marfan syndrome is caused by mutations

disorder. An autosomal dominant inheritance with age dependency and variable penetrance has been reported, although not all studies support this theory. Linkage

the meninges in adequate quantities; some antibiotics have inadequate penetrance and therefore have little use in meningitis. Most of the antibiotics used

to breast cancer in a subset of the population. Applying this genetic penetrance model and using the genotyping technology available at the time, King's

Benítez J (2004). "The variant E233G of the RAD51D gene could be a low-penetrance allele in high-risk breast cancer families without BRCA1/2 mutations"

Kalsotra, Auinash (2017). "Myotonic dystrophy: disease repeat range, penetrance, age of onset, and relationship between repeat size and phenotypes". Current

syndrome inherit the condition from a parent. However, due to incomplete penetrance, variable age of cancer diagnosis, cancer risk reduction, or early death

Ott, J.; Berson, E.L.; Dryja, T.P. (November 1997). "Evidence That the Penetrance of Mutations at the RP11 Locus Causing Dominant Retinitis Pigmentosa Is

Sleepwalking may be inherited as an autosomal dominant disorder with reduced penetrance. Genome-wide multipoint parametric linkage analysis for sleepwalking revealed

(FADD) gene (11q13.3) was also found to be responsible. There is variable penetrance and variable gene expression within these genetic mutations. Individuals

Gianfrancesco F, Cannella M, Martino T, et al. (2007). "Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel

epilepsy (RE), which has been observed as autosomal dominant with high penetrance, develops around age 3 and disappears by age 12 there are serious problems

Demonstrates Histone Deacetylase Target Engagement and Clarifies Brain Penetrance of Known and Novel Small Molecule Inhibitors in Rat". ACS Chemical Neuroscience

J, Greco CM, Berry-Kravis E, Tassone F, Hagerman PJ (January 2004). "Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier

have severely reduced numbers of mature T and B cells. The phenotypic penetrance of Prkdcscid varies among inbred strain backgrounds, but the mutation

1–q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females". American Journal of Medical Genetics Part A. 164 (2): 364–369

Malignant hyperthermia's inheritance is autosomal dominant with variable penetrance. The defect is typically located on the long arm of chromosome 19 (19q13

particular, heterozygous loss-of-function mutations have a near-complete penetrance in ASD. Neurons generated from people with ASD and SHANK2 mutations develop

genetic mutations that previously were assumed pathogenic, i.e. having 100% penetrance, but without any apparent negative health presentation. As with other

Bressman S, et al. (July 2008). "Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study". The Lancet

ALDH1A2 findings suggested that it can increase tumor onset and tumor penetrance. Overall, it has been noted per researchers' data and  findings that the

R; Evans, D. G.; Houlston, R; Murday, V; Narod, S; et al. (2002). "Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers

S-cones slowly die. Tritanomaly and tritanopia are therefore different penetrance of the same disease, and some sources have argued that tritanomaly therefore

mutations of MITF and PAX3 result in Waardenburg syndrome with increased penetrance in pigmentary defects". Clin. Genet. 83 (1): 78–82. doi:10.1111/j.1399-0004

Tyrrell J, Jones SE, et al. (2019). "Mosaic Turner syndrome shows reduced penetrance in an adult population study". Genetics in Medicine. 21 (4): 877–886.

2014). "An evaluation of the role of environmental factors in the disease penetrance of cervical dystonia". Journal of Neurology, Neurosurgery & Psychiatry

Jones SE, et al. (April 2019). "Mosaic Turner syndrome shows reduced penetrance in an adult population study". Genetics in Medicine. 21 (4): 877–886.

increased size. Thus, beyond a threshold, UV radiation will have little to no penetrance. This is an importance defense mechanism since UV radiation can lead to

(2010). "Evaluation of SNPs in miR-146a, miR196a2 and miR-499 as low-penetrance alleles in German and Italian familial breast cancer cases". Hum. Mutat

Rare genetic variants show more relevant clinical significance as their penetrance (the chance of developing the disorder) tends to be much higher. However

mutation Lys273Glu in the cardiac troponin T gene shows high degree of penetrance and transition from hypertrophic to dilated cardiomyopathy". The American

antibody leading to false positive identification of expression. Poor penetrance of the antibody into the target tissue can lead to false negative results

likely result from the complex interplay between the expression of low penetrance genes (risk variants) and environmental factors. However, the suspected

Likewise, alternative statistics designed for dominance or recessive penetrance patterns can be used. Calculations are typically done using bioinformatics

for modifiers of genetic hemochromatosis (GH), to explain its variable penetrance. Where most cases of GH are caused by mutations in the HFE gene, they

spiradenoma-, trichoepithelioma-, and/or spiradenocylindroma-like lesions. Penetrance (i.e. the percentage of individuals with CCS that exhibit symptoms of

associated with Maturity-Onset Diabetes of the Young (MODY) with reduced penetrance". Nature Communications. 8 (1): 888. doi:10.1038/s41467-017-00895-9. PMC 5638866

Qingjiong; Yao, Yong-Gang; Zhang, Ya-Ping (August 2008). "Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent

Nancarrow D, Platz A, Tucker MA (June 2002). "Geographical variation in the penetrance of CDKN2A mutations for melanoma". Journal of the National Cancer Institute

found that utilizing Bayes factor co-segregation analysis, along with a strong penetrance model, will result with higher accuracy than meiosis counting.

mediates acute cell cycle inhibition by Rb and is retained in a partial-penetrance Rb mutant". Molecular Cell. 16 (1): 47–58. doi:10.1016/j.molcel.2004.09

hereditary haemochromatosis. Nat Genet 13: 399–408, 1996 Beutler E, et al. Penetrance of the 845G->A (C282Y) HFE hereditary haemochromatosis mutation in the

Common Germline TP53-R337H Mutation Is Hypomorphic and Confers Incomplete Penetrance and Late Tumor Onset in a Mouse Model". Cancer Research. 81 (9): 2442–2456

Associated with Unexplained Cardiac Arrest in Infants Due to Low Clinical Penetrance Electrical Disorders". PLOS ONE. 11 (4): e0153851. Bibcode:2016PLoSO.

thrombocytopenia or leukopenia may be present with varying degrees of penetrance between patients. Ghosal hematodiaphyseal dysplasia is an inherited autosomal

Arrhythmogenic Right-Ventricular Dysplasia Characterized by Early Onset and High Penetrance Maps to Chromosome 10p12-p14". American Journal of Human Genetics. 66

dominant model of inheritance with variable expressivity and reduced penetrance in males may be relevant; because in ten families studied, there was at

in disorders such as schizophrenia using linkage because of incomplete penetrance. To this end McGuffin, with his colleague Roger Marchbanks, wrote a proposal

molecular evolution of a sex determination switch through incomplete penetrance of femaleness.  Current Biology 23: 1–6. Ihle K. E., O. Rueppell, Z. Y

Onset of neurological symptoms ranges between 25 and 60 years, and the penetrance of the disorder appears to be high. Additional symptoms of the McLeod

represents a potential tumour-specific neoantigen with high uniformity and penetrance and could be exploited by immunotherapy through vaccination. Accordingly

population (mostly in individuals with normal TG values), which suggests a low penetrance of this variant. More than twenty other rare variants (mutations) have

difficulty is that the genes in question might sometimes show incomplete penetrance, "where a given gene variant does not always cause the phenotype". Much

CP-154,526 was also observed to cross the blood-brain barrier with good penetrance at a 2.5 brain:plasma ratio 8 hours following oral administration. An

for the cause of pulmonary agenesis may have variable expressivity and penetrance. The symptoms of pulmonary agenesis are unspecific, and their occurrence

Rare genetic variants show more relevant clinical significance as their penetrance (the chance of developing the disorder) tends to be much higher. However

influence the location of male focus during courtship, and of eventual penetrance. Among chimpanzees, bonobos, baboons, and many Old World monkey species

autosomal dominant systemic connective tissue disorder with variable penetrance, characterized by a range of clinical manifestations. The most serious

signaling causing an autoinflammatory syndrome. Similarly, patients with high-penetrance heterozygous mutations in the gene encoding A20 display excessive ubiquitination

killing activity, and are capable of improved tumour trafficking and penetrance compared to the current generation of CAR-T cells. Resultantly, CellPryme-M

Signature 13 mutations. This polymorphism is considered to be of moderate penetrance (two-fold above background risk) for breast cancer risk. The exact roles

one with earlier onset and the other with later onset and incomplete penetrance, have been identified. Additionally, mutations in the FOXL2 gene have

mutation that results in acute or subacute vision loss, displays incomplete penetrance and predominantly affects young males. Onset is usually between the 2nd

Leehey MA, Hall DA, Levine RA, Brunberg JA, et al. (January 2004). "Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier

each other. Inherited in an autosomal recessive manner with complete penetrance, approximately 2/3rd of patients are homozygotes and 1/3rd are compound

autosomal dominant inheritance exhibiting variable age of onset and complete penetrance by age 30. The most common type of congenital hearing loss in developed

that this trait has an autosomal dominant mode of inheritance with high penetrance. This means that the genes involved in FASP are passed through non-sex

Arnaud-Lopez L (September 2017). "GATA2 null mutation associated with incomplete penetrance in a family with Emberger syndrome". Hematology (Amsterdam, Netherlands)

extensive and minute observations, axioms expand in scope and deepen in penetrance tightly in accord with all the observations. This, Bacon proposed, would

responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance". Circulation. 101 (12): 1396–402. doi:10.1161/01.cir.101.12.1396. PMID 10736283

"Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance". Journal of Clinical Immunology. 40 (6): 917–926

p200 CUX1 in mammary epithelial cells develop mammary tumours with a low penetrance (~20%) and with a long latency period. Metastasis to the lung was observed

Shuan-Pei; Chao, Mei-Chyn; Chiou, Shyh-Shin; Su, Yi-Ning (2011-05-26). "Low penetrance of retinoblastoma for p.V654L mutation of the RB1 gene". BMC Medical Genetics

extracellular matrix, the biofilm. Biofilms greatly decrease antibiotic penetrance thereby shielding bacteria from the bacteriocidal effects of antibiotics

Chen S, Parmigiani G (April 2007). "Meta-analysis of BRCA1 and BRCA2 penetrance". Journal of Clinical Oncology. 25 (11): 1329–1333. doi:10.1200/jco.2006

Philadelphia type Sagittal Dolichocephaly Variable sagittal craniosynostosis penetrance. Craniosynostosis-anal anomalies-porokeratosis syndrome Coronal, sagittal