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searching for Germline mutation 63 found (90 total)

alternate case: germline mutation

Glycosylphosphatidylinositol (634 words) [view diff] exact match in snippet view article find links to article

mutations in the X-chromosomal gene PIGA. However, a PNH case with a germline mutation in the autosomal gene PIGT and a second acquired somatic hit has also
Haemophilia in European royalty (2,111 words) [view diff] exact match in snippet view article find links to article
Kent, was not a haemophiliac, but the mutation may have arisen as a germline mutation within him. The rate of spontaneous mutation is known to increase
GNAT2 (820 words) [view diff] exact match in snippet view article find links to article
novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2)". J. Med. Genet. 39
Medullary thyroid cancer (2,094 words) [view diff] exact match in snippet view article find links to article
development and its germline mutation is responsible for nearly all cases of hereditary or familial medullary thyroid carcinoma. Its germline mutation may also be
Hereditary lobular breast cancer (605 words) [view diff] exact match in snippet view article find links to article
this context, it has been estimated that the frequency of E-cadherin germline mutation is a rare event, affecting about 3% of the screened population. However
Atypical teratoid rhabdoid tumor (6,170 words) [view diff] exact match in snippet view article find links to article
segregating a germline mutation and rhabdoid tumor supports the hypothesis that variable risks of development of rhabdoid tumor in the context of a germline mutation
Keratin 17 (1,180 words) [view diff] exact match in snippet view article find links to article
Michael EJ, Peacocke M (1999). "Mutation report: identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2". J.
HOXD4 (824 words) [view diff] exact match in snippet view article find links to article
children with acute lymphoid malignancies: identification of a novel germline mutation of HOXD4 leading to a partial loss-of-function". Hum. Mutat. 25 (4):
LHX4 (546 words) [view diff] exact match in snippet view article find links to article
Amselem S (Oct 2001). "Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4". Am J Hum Genet. 69 (5): 961–968. doi:10
Malignant rhabdoid tumour (1,065 words) [view diff] exact match in snippet view article find links to article
patient and the parents can be done to rule out an inherited or de novo germline mutation or deletion of INI1, so that appropriate recurrence risk assessments
Metaphyseal dysplasia (991 words) [view diff] exact match in snippet view article find links to article
Y61*) was observed. Segregation analysis in the patient revealed a germline mutation, resulting in reduced protein formation. Pyle E (Oct 1, 1931). "A
Hamartoma (1,629 words) [view diff] exact match in snippet view article find links to article
com/content/5/3/e000515 Mutation of PTEN gene on arm 10q (~85% of cases) or rarely germline mutation in BMPR1A "Dermatology Images". Dermatology Image Atlas. Archived
Pulmonary venoocclusive disease (878 words) [view diff] exact match in snippet view article find links to article
that appeared to possess a familial pattern, more to the point, a germline mutation. The pathophysiology of veno-occlusive disease culminates in occlusion
Proteus syndrome (1,922 words) [view diff] exact match in snippet view article find links to article
Marshall GM, Walker J, Rogers M, Field M, Brereton JJ, Marsh DJ (2002). "Germline mutation of the tumour suppressor PTEN in Proteus syndrome". J. Med. Genet
Rothmund–Thomson syndrome (914 words) [view diff] exact match in snippet view article find links to article
the skin." In humans, individuals with RTS, and carrying the RECQL4 germline mutation, can have several clinical features of accelerated aging. These features
Thyrotropin receptor (1,283 words) [view diff] exact match in snippet view article find links to article
Paschke R (Dec 1997). "Identification of a new thyrotropin receptor germline mutation (Leu629Phe) in a family with neonatal onset of autosomal dominant
CDC73 (1,241 words) [view diff] exact match in snippet view article find links to article
(2004). "Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome"
SPRED1 (1,475 words) [view diff] exact match in snippet view article find links to article
nonfunctional protein. Blast cells analysis displayed the same abnormality as germline mutation with one mutated allele (no somatic SPRED1 single-point mutation or
Peter Forster (geneticist) (783 words) [view diff] exact match in snippet view article
B, Schürenkamp M, Pfeiffer H, Neuhuber F, Brinkmann B: "Elevated germline mutation rate in teenage fathers." Proc R Soc B 282:20142898, 2015. Elisabeth
Oogenesis (2,557 words) [view diff] exact match in snippet view article find links to article
Schürenkamp M, Pfeiffer H, Neuhuber F, Brinkmann B (2015). "Elevated germline mutation rate in teenage fathers". Proc R Soc B. 282 (1803): 20142898. doi:10
Autoimmune lymphoproliferative syndrome (2,394 words) [view diff] exact match in snippet view article find links to article
diagnosis is defective in vitro Fas mediated apoptosis and somatic or germline mutation in ALPS causative gene (FAS, FASL, CASP10). The secondary accessory
Multiple endocrine neoplasia (2,049 words) [view diff] exact match in snippet view article find links to article
suppressor gene carcinogenesis (30). The first hit is a heterozygous MEN1 germline mutation, inherited from one parent (familial cases) or developed in an early
Succinate dehydrogenase complex subunit C (2,158 words) [view diff] exact match in snippet view article find links to article
Garcia-Inclán C, Balbín M, Suárez C (January 2010). "Relevance of germline mutation screening in both familial and sporadic head and neck paraganglioma
SDHD (2,689 words) [view diff] exact match in snippet view article find links to article
Garcia-Inclán C, Balbín M, Suárez C (January 2010). "Relevance of germline mutation screening in both familial and sporadic head and neck paraganglioma
CD48 (2,164 words) [view diff] exact match in snippet view article find links to article
on inflammation markers and therapies for HIV/AIDS. Heterozygous germline mutation in a patient was associated with a recurrent inflammatory syndrome
Chimpanzee–human last common ancestor (2,323 words) [view diff] exact match in snippet view article find links to article
Bontrop, Ronald; McVean, Gil (June 2014). "Strong male bias drives germline mutation in chimpanzees". Science. 344 (6189): 1272–1275. Bibcode:2014Sci.
Stanislas Lyonnet (884 words) [view diff] exact match in snippet view article find links to article
Philip N, Frébourg T, Munnich A, Lyonnet S, Delattre O, Amiel J. Germline mutation of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. Am
Spermatogenesis (3,452 words) [view diff] exact match in snippet view article find links to article
Schürenkamp M, Pfeiffer H, Neuhuber F, Brinkmann B (2015). "Elevated germline mutation rate in teenage fathers". Proc R Soc B. 282 (1803): 20142898. doi:10
RecQ helicase (1,873 words) [view diff] exact match in snippet view article find links to article
individuals with Rothmund-Thomson syndrome, and carrying the RECQL4 germline mutation, have several clinical features of accelerated aging. These features
Fas ligand (2,083 words) [view diff] exact match in snippet view article find links to article
lead to oncogenesis as well as drug resistance in existing tumors. Germline mutation of Fas is associated with autoimmune lymphoproliferative syndrome
Doublecortin (1,840 words) [view diff] exact match in snippet view article find links to article
et al. (2001). "Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene". Neurology. 57 (2): 327–30. doi:10.1212/wnl.57.2
Mutation rate (2,652 words) [view diff] exact match in snippet view article find links to article
Recently reported estimates of the human genome-wide mutation rate. The human germline mutation rate is approximately 0.5×10−9 per basepair per year.
Von Hippel–Lindau tumor suppressor (3,187 words) [view diff] exact match in snippet view article find links to article
eye, brain, spinal cord, kidney, pancreas, and adrenal glands. A germline mutation of this gene is the basis of familial inheritance of VHL syndrome
SDHB (2,931 words) [view diff] exact match in snippet view article find links to article
Hermsen MA, Sevilla MA, Llorente JL, et al. (2010). "Relevance of germline mutation screening in both familial and sporadic head and neck paraganglioma
Phakomatosis (1,970 words) [view diff] exact match in snippet view article find links to article
Hippel-Lindau syndrome to be caused by a dominant inherited or de novo germline mutation, with the inherited familial cancer syndrome predisposing individuals
Noonan syndrome (3,085 words) [view diff] exact match in snippet view article find links to article
of hypertrophic cardiomyopathy in Noonan syndrome due to a novel germline mutation in the KRAS gene: case study". Croatian Medical Journal. 54 (6): 574–8
USP18 (1,491 words) [view diff] exact match in snippet view article find links to article
interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2". Science Immunology. 4 (42). doi:10.1126/sciimmunol.aav7501
CDH1 (gene) (3,775 words) [view diff] exact match in snippet view article
007. PMID 15308209. Wang HD, Ren J, Zhang L (November 2004). "CDH1 germline mutation in hereditary gastric carcinoma". World Journal of Gastroenterology
Colorectal polyp (2,744 words) [view diff] exact match in snippet view article find links to article
negative family history and acquire the syndrome from spontaneous germline mutation. The average age of newly diagnosed patient is 29 and the average
1000 Genomes Project (2,787 words) [view diff] exact match in snippet view article find links to article
Based on the two trios, it is estimated that the rate of de novo germline mutation is approximately 10−8 per base per generation. Biology portal Human
Cadherin (3,441 words) [view diff] exact match in snippet view article find links to article
003. PMID 15561585. Wang HD, Ren J, Zhang L (November 2004). "CDH1 germline mutation in hereditary gastric carcinoma". World Journal of Gastroenterology
MSH6 (2,957 words) [view diff] exact match in snippet view article find links to article
Muraoka M, Yasuno M, Igari T, Koike M, Chiba M, Mori T (Nov 1997). "Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer"
Prophylactic salpingectomy (2,141 words) [view diff] exact match in snippet view article find links to article
of developing serous ovarian cancer due to their inheritance of a germline mutation in a cancer predisposition gene, such as BRCA1 and BRCA2, once childbearing
PMS2 (3,222 words) [view diff] exact match in snippet view article find links to article
cause was determined for 10, but 6 were found to have a heterozygous germline mutation in Pms2, followed by likely loss of heterozygosity in the tumor. Thus
MUTYH (2,978 words) [view diff] exact match in snippet view article find links to article
adenomatous polyposis Autosomal recessive Pilomatricoma Somatic mutation Gastric cancer Somatic mutation Endometrial cancer Biallelic germline mutation
Richard M. Myers (1,468 words) [view diff] exact match in snippet view article find links to article
Scientists believed the high doses of radiation could have increased the germline mutation rate, but they would need methods to measure mutations in the children
Rett syndrome (5,419 words) [view diff] exact match in snippet view article find links to article
can also be inherited from phenotypically normal mothers who have a germline mutation in the gene encoding methyl-CpG-binding protein-2, MeCP2. In these
Human evolutionary genetics (4,776 words) [view diff] exact match in snippet view article find links to article
Bontrop, Ronald; McVean, Gil (June 2014). "Strong male bias drives germline mutation in chimpanzees". Science. 344 (6189): 1272–1275. Bibcode:2014Sci.
Microsatellite (6,556 words) [view diff] exact match in snippet view article find links to article
Schürenkamp M, Pfeiffer H, Neuhuber F, Brinkmann B (March 2015). "Elevated germline mutation rate in teenage fathers". Proceedings. Biological Sciences. 282 (1803):
Autosomal dominant polycystic kidney disease (4,993 words) [view diff] exact match in snippet view article find links to article
different sizes. Factors suggested to lead to cystogenesis include a germline mutation in one of the polycystin gene alleles, a somatic second hit that leads
Legitimacy (family law) (8,126 words) [view diff] exact match in snippet view article
Schürenkamp, M; Pfeiffer, H; Neuhuber, F; Brinkmann, B (2015). "Elevated germline mutation rate in teenage fathers". Proc Biol Sci. 282 (1803): 20142898. doi:10
Monogamy (10,586 words) [view diff] exact match in snippet view article find links to article
Schürenkamp, M; Pfeiffer, H; Neuhuber, F; Brinkmann, B (2015). "Elevated germline mutation rate in teenage fathers". Proceedings of the Royal Society B: Biological
Mesothelioma (9,770 words) [view diff] exact match in snippet view article find links to article
white American population in 2012, it was found that people with a germline mutation in their BAP1 gene are at higher risk of developing mesothelioma and
Infidelity (13,177 words) [view diff] exact match in snippet view article find links to article
Schürenkamp, M; Pfeiffer, H; Neuhuber, F; Brinkmann, B (2015). "Elevated germline mutation rate in teenage fathers". Proc Biol Sci. 282 (1803): 20142898. doi:10
Partial androgen insensitivity syndrome (7,691 words) [view diff] exact match in snippet view article find links to article
Barrett-Lee P, Easton DF, Ponder BA, Stratton MR (October 1992). "A germline mutation in the androgen receptor gene in two brothers with breast cancer and
Androgen insensitivity syndrome (12,659 words) [view diff] exact match in snippet view article find links to article
Barrett-Lee P, Easton DF, Ponder BA, Stratton MR (October 1992). "A germline mutation in the androgen receptor gene in two brothers with breast cancer and
Ageing (16,293 words) [view diff] exact match in snippet view article find links to article
Schürenkamp M, Pfeiffer H, Neuhuber F, Brinkmann B (March 2015). "Elevated germline mutation rate in teenage fathers". Proceedings. Biological Sciences. 282 (1803):
Yuri Nikiforov (scientist) (2,514 words) [view diff] exact match in snippet view article
SE, Nikiforov Y, Witchel S. Identification of unique heterozygous germline mutation, STK11 (p.F354L), in a child with encapsulated follicular variant
Papillary renal cell carcinoma (3,713 words) [view diff] exact match in snippet view article find links to article
mutations, hereditary syndrome, renal injuries, and lifestyle factors. Germline mutation of c-MET oncogene and fumarate hydratase gene elevates the risk of
Epigenetic clock (7,656 words) [view diff] exact match in snippet view article find links to article
Schürenkamp, M; Pfeiffer, H; Neuhuber, F; Brinkmann, B (2015). "Elevated germline mutation rate in teenage fathers". Proc Biol Sci. 282 (1803): 20142898. doi:10
Virtual karyotype (7,259 words) [view diff] exact match in snippet view article find links to article
patient and the parents can be done to rule out an inherited or de novo germline mutation or deletion of INI1, so that appropriate recurrence risk assessments
Trinucleotide repeat expansion (7,971 words) [view diff] exact match in snippet view article find links to article
Young, M.; Wexler, N. S.; Arnheim, N. (February 1999). "Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation
Shapiro–Senapathy algorithm (8,791 words) [view diff] case mismatch in snippet view article find links to article
Diffuse Gastric Cancer Testing Criteria and Outcomes in Patients With a Germline Mutation in CDH1". Gastroenterology. 149 (4): 897–906.e19. doi:10.1053/j.gastro