關於 germline mosaicism ，我們在網路上蒐集到這些相關的討論、資訊與評價

#11. Mosaicism — Knowledge Hub

Constitutional (germline) mosaicism is a rare phenomenon that occurs when a variant arises in a germ cell precursor and is therefore present in only a subset of ...

#12. Inherited Aneuploidy: Germline Mosaicism - Karger Publishers

Germline mosaicism has been thought to be a rare cause of aneuploidy in the human population. Recent evidence from cytological and ...

#13. germline mosaicism | genetic disorder | Britannica

Other articles where germline mosaicism is discussed: human genetic disease: Calculating risks of known carriers: This scenario is called germline mosaicism ...

#14. 'Isolated' germline mosaicism in the phenotypically normal ...

Objective X-linked hypophosphatemic rickets (XLHR) is the most common form of inherited rickets caused by pathogenic variants of PHEX gene ...

#15. A case of germline mosaicism for a 7q32.1q33 deletion in a ...

Germline mosaicism is considered to be a rare event. However, its occurrence is underestimated due to the limited availability of germ cells ...

#16. Full article: Germline mosaicism in a DMD family: incidental ...

Germline mosaicism can occur with any inheritance pattern, but it is most commonly observed in autosomal dominant and X-linked disorders ...

#17. Germline mosaicism at the fragile X locus - OSTI.GOV

GOV Journal Article: Germline mosaicism at the fragile X locus ... as a postzygotic event in the mother, who therefore is germinally mosaic.

#18. Germline mosaicism of a missense variant in KCNC2 in a ...

This variant was phased to the paternal chromosome of origin and is likely a germline mosaic. In silico assessment of the variant revealed it ...

#19. Apparent germline mosaicism for a 15q11-q13 deletion ...

Apparent germline mosaicism for a 15q11-q13 deletion causing recurrent Angelman syndrome in a Chinese family. Hai-Shen Tang.

#20. The Importance of Germline Mosaicism in the Occurrence of ...

The Importance of Germline Mosaicism in the Occurrence of De novo Mutational Events and its Necessary Diagnosis, Celine Chalas, Catherine Patrat.

#21. Large, three-generation human families reveal post-zygotic ...

Rates of germline mutation accumulation are highly variable across families of similar genetic ancestry, and post-zygotic mosaicism is a ...

#22. Neurofibromatosis Type 1 Due to Germ-Line Mosaicism in a ...

Background The mutation rate of the neurofibromatosis type 1 (NF1) gene is one of the highest in the human genome, with about 50 percent of ...

#23. Germ Cell Mosaicism: A Rare Cause of Li-Fraumeni ...

Case of LFS germline mosaicism pedigree. Family pedigree for an 18-month old with adrenocortical carcinoma and a TP53 pathogenic variant ...

#24. Genetic Mosaics and the Germ Line Lineage - MDPI

Potential cell lineages of somatic and germ line mosaicism based on alternative specification scenarios. In each panel, the one cell zygote is shown at the ...

#25. Evaluation for germline mosaicism in sperm donors following ...

Guidance regarding management of possible gonadal mosaicism remains limited despite its implications for reproductive planning in sibling ...

#26. Germline mosaicism in the context of clinical genetics a, The ...

Download scientific diagram | Germline mosaicism in the context of clinical genetics a, The predicted recurrence probability against the parental mosaic ...

#27. Citations to Female germ line mosaicism as the origin of ... - JCI

Title and authors Publication Year Journal of Allergy and Clinical Immunology 2018 Clinical Immunology Clinical Immunology 2013 Clinical Immunology DB Kuhns Clinical Immunology 2008

#28. Recurrence (Germline Mosaicism) Archives - CdLS Foundation

We explain this by a phenomenon called 'germ line mosaicism' which refers to the presence in the germ cells (the eggs in a woman or the ...

#29. Genetic confirmation of germline mosaicism in a Duchenne ...

Genetic confirmation of germline mosaicism in a Duchenne muscular dystrophy Tunisian family - Manoubi Wiem - Farhat Hached University Hospital, Tunisia.

#30. Quest - Article - Simply Stated: Germ Line Mosaicism

The condition of having some germ cells affected and some not is called germ line or germinal mosaicism, derived from the idea of a mosaic ...

#31. Germline Mosaicism in a Family with MBD5 Haploinsufficiency

Both parents are phenotypically normal but deep coverage sequencing of the parents revealed germline mosaicism in the mother. Ontology Terms.

#32. The Value of Parental Testing by Next-Generation ...

Detection of germline mosaicism by NGS is invaluable to parents, providing a more accurate recurrence risk that can alter decisions on ...

#33. 「我的」基因？奇妙的鑲嵌現象（mosaicism） | CASE 報科學

Priest醫師無法理解自己所看到的一切。他正在為一位重症嬰兒檢查DNA，試著找出威脅她心跳的基因突變。然而，根據檢查結果，這些基因彷彿是從另一個 ...

#34. Maternal germline mosaicism in Fabry disease. - Europe PMC

To the best of our knowledge, this study represents the first case of maternal germline mosaicism in FD. Full text links. Read article at publisher's site (DOI): ...

#35. Proven germline mosaicism in a father of two children with ...

7302dupA mutation occurs in 16 spermatozoa, confirming germline mosaicism in the father of the affected children. This result has a high impact ...

#36. Genetic Linkage Analysis in the Presence of Germline ...

Germline mosaicism is a genetic condition in which some germ cells of an individual contain a mutation. This condition violates the ...

#37. Age-Dependent Germline Mosaicism of the Most Common ...

tered and showed an age-dependent germline mosaicism. ... Looking at recurrent mutations driven by germline selection in different gene families.

#38. Maternal Germline Mosaicism of KIF21A Mutation Causes ...

Maternal Germline Mosaicism of KIF21A Mutation Causes Complex Phenotypes in a Chinese Family with Congenital Fibrosis of Extraocular Muscles.

#39. What is germline mosaicism in sperm cells and egg cells?

Germline mosaicism is a relative fragment mechanism of written disease and provides an explanation for the increased pattern in cases where multiple ...

#40. Apparent Germline Mosaicism for a Novel 19p13.13 Deletion ...

Apparent Germline Mosaicism for a Novel 19p13.13 Deletion Disrupting NFIX and CACNA1A. Manjunath Nimmakayalu, V. Kim Horton, Ben Darbro, Shivanand R. Patil, ...

#41. Identification of paternal germline mosaicism by MicroSeq and ...

Prezygotic de novo mutations may be inherited from parents with germline mosaicism and are often overlooked when the resulting phenotype affects only one ...

#42. Genetics, Mosaicism Article - StatPearls

Genetic mosaicism is defined as the presence of two or more cell lineages with ... [8][9]; Germline Mosaicism: More than one cell lineage in ...

#43. Postzygotic mutation and germline mosaicism in the ...

The otopalatodigital syndrome (OPD) spectrum disorders are a heterogeneous group of skeletal dysplasias caused by mutations in the X-linked gene, FLNA.

#44. PGD for germline mosaicism - Reproductive BioMedicine Online

wild-type and mutant alleles in two families with germline mosaicism. Family 1 had two children affected with severe myoclonic.

#45. Mosaic Mutations in Embryos Can Cause Cancer Later in Life

People with mosaic mutations in cancer susceptibility genes had patterns of cancer that were similar to people with germline mutations, ...

#46. Germline mosaicism in Coffin-Lowry syndrome

Keywords: Coffin-Lowry syndrome; RSK2 mutation; germline mosaicism. Introduction. The Coffin-Lowry syndrome (CLS) is a rare X-linked.

#47. Familial juvenile onset Alexander Disease demonstrating ...

Familial juvenile onset Alexander Disease demonstrating germline mosaicism and presenting with a tumor-like mass of the medulla - Volume 48 ...

#48. Mosaicism in Human Health and Disease - Annual Reviews

In the case of somatic mosaicism, mutations are acquired in somatic cells as postzygotic events. In germline mosaicism (also termed gonadal mosaicism), ...

#49. Germline mosaicism | Top Authors | Related Topics - Typeset

Germline mosaicism is a(n) research topic. Over the lifetime, 721 publication(s) have been published within this topic receiving 24699 citation(s).

#50. GERMLINE AND SOMATIC MOSAICISM IN OSTEOGENESIS ...

GERMLINE AND SOMATIC MOSAICISM IN OSTEOGENESIS IMPERFECTA. DANIEL H. COHN1,2, GILLIAN A. WALLIS3, MATTHEW J. EDWARDS1,. BARBRA J. STARMAN3, and PETER H.

#51. Identification of Germline Mosaicism in a Family with 16p11.2 ...

Microdeletions and microduplications of chromosome 16p11.2 have been associated with language impairment disorders, intellectual disability, ...

#52. Literature citations | UniProt

Evidence for somatic and germline mosaicism in CRASH syndrome. Vits L., Chitayat D., van Camp G., Holden J.J.A., Fransen E., Willems P.J..

#53. Evidence of Germline Mosaicism for a Novel BCOR Mutation ...

Evidence of Germline Mosaicism for a Novel BCOR Mutation in Two Indian Sisters with Oculo-Facio-Cardio-Dental Syndrome.

#54. Genetic Mosaicism: How Mutations That Arise in the Embryo ...

Improved understanding of mosaic genetic mutations could have ... cases when a germline mutation is ruled out, mosaicism may be the culprit.

#55. Somatic Mutation vs. Germline Mutation - Cleveland Clinic

Germline mutations are DNA changes inherited during conception. Somatic mutations happen after conception to cells other than the egg and ...

#56. Germline mosaicism of PHOX2B mutation accounts for familial ...

Germline Mosaicism ofPHOX2BMutation Accounts for. Familial Recurrence of Congenital Central. Hypoventilation Syndrome (CCHS). Casey M. Rand,.

#57. Mosaicism: Implications for Genetic Counseling and Medical ...

When the mutation is present in egg or sperm cells (germline mosaicism), the mutation can be passed on to an individual's offspring. Somatic mosaicism is the ...

#58. Detection of low-level somatic and germline mosaicism by ...

Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency.

#59. Introduction to Risk Calculation in Genetic Counseling

The issue of germline mosaicism has generated a great deal of uncertainty in the provision of genetic risks over the past 10–15 years.

#60. Germline mosaicism is a pitfall in PGD for X‐linked disorders ...

This manuscript presents a molecularly demonstrated gonadal mosaicism from paternal origin for X‐linked dominant chondrodysplasia punctata by single sperm ...

#61. Germline mosaicism in osteopathia striata with cranial sclerosis

Germline mosaicism in osteopathia striata with cranial sclerosis – recurrence in siblings. James J. O'Byrne a. , Ethna Phelan b. , Ellen Steenackers.

#62. Germline Mosaicism for KIF21A Mutation (p.R954L) Mimicking ...

Parental germline mosaicism can mimic recessive inheritance in CFEOM and likely is underrecognized. Ophthalmologists should be aware of this ...

#63. Germline mosaicism of MPZ Gene in Dejerine-Sottas ...

To our knowledge, these are the first familial cases of DSS with a mutation due to germline mosaicism of the MPZ gene to be reported. Keywords.

#64. Germline mosaicism - neurofibromatosis 1 - Genetics

Germline Mosaicism - Example. Pedigree. This pattern of inheritance is most often suspected if multiple children are affected by a disorder, and the parents ...

#65. eP163: Germline mosaicism in two sisters with Malan syndrome

While most previously reported cases of Malan syndrome result from de novo pathogenic variants, germline mosaicism has been reported in a few individuals.

#66. A somatic and germline mosaic mutation in MPZ/P0 mimics ...

Conclusion: In hereditary demyelinating neuropathies, somatic and germline mosaicism of dominant mutations in the myelin protein genes may mimic autosomal ...

#67. Genetic Disorders and the Fetus: Diagnosis, Prevention, and ...

Mosaic DCX deletion causes subcortical band heterotopia in males. Neurogenetics 2012;13:367. Natacci F, Baffico M, Cavallari U, et al. Germline mosaicism in ...

#68. Studies of genetic mosaicism in rare diseases

Mosaicism in human genetics refers to an individual harboring two or more ... We found germline mosaicism in two fathers and showed that ...

#69. Paternal germline mosaicism of a SCN2A mutation results in ...

strongly suggesting paternal gonadal mosaicism of the mutation. The broad clinical ... familial Ohtahara syndrome due to a germline mosaic SCN2A mutation.

#70. Mosaicism Definition and Examples - Biology Online Dictionary

Mosaicism is when an organism from a single zygote has two or more cell populations ... Germline mosaicism, also known as gonadal mosaicism, ...

#71. Cre‐mediated germline mosaicism: a new transgenic mouse ...

Cre‐mediated germline mosaicism: a new transgenic mouse for the selective removal of residual markers from tri‐lox conditional alleles Comprobar ...

#72. First description of germline mosaicism in familial hypertrophic ...

This is the first description of germline mosaicism shown by molecular genetic analysis in an autosomal dominant disorder and more especially in ...

#73. Mosaicism in Tuberous Sclerosis - NEJM Journal Watch

Of equal interest is the phenomenon of germline mosaicism, usually suspected when clinically normal parents have more than one child with an ...

#74. Recurrence Risk - - Schinzel-Giedion Syndrome Foundation

Germline or gonadal mosaicism means that the genetic mutation that causes SGS appeared in more than one sperm cell in the father or more than one egg cell in ...

#75. Mosaicism | HSTalks

Definition of mosaicism and chimerism · Types of mosaicism: somatic, gonadal, combined · Chromosomal disease and mosaicism · Mosaic skin disorders ...

#76. 种系嵌合体_百度百科

中文名称: 种系嵌合体. 英文名称: germline mosaic. 定义: 种系由不同基因型的细胞所构成的生物体。 应用学科: 遗传学（一级学科），发育遗传学（二级学科）.

#77. Thompson & Thompson Genetics in Medicine E-Book

He must have been a mosaic for the mutation in his germline. the order of 1 chance in 104 ... Such unusual pedigrees can be explained by germline mosaicism.

#78. Genome mosaicism - SlideShare

A mosaic germline mutation is significant because it can be passed to offspring. • Germline mosaicism can be observed with any inheritance ...

#79. Oxford Desk Reference: Clinical Genetics and Genomics

... diagram depicting the different types of germline mosaicism that can occur depending upon the time in development at which a new mutation occurs .

#80. Somatic vs Germline Mutations - BioNinja

Somatic vs Germline Mutations · Somatic mutations – occur in a single body cell and cannot be inherited (only tissues derived from mutated cell are affected) ...

#81. Could Genetic Mosaicism in Adult Neurons Precipitate Disease?

Some researchers speculate that somatic mosaicism could account for a ... Somatic and germline mosaic mutations in the doublecortin gene are ...

#82. Role of ctDNA in Germline Testing - OncLive

What do you think about the issue of mosaicism that you're picking up on ctDNA [circulating tumor DNA] or cfDNA?

#83. Not only de novo after all: the role of parental mosaicism in ...

Because the mosaic parents all have affected children, the variant is presumed to be present in gonadal tissue as well, although it is not ...

#84. Mosaic - UVM Genetics & Genomics Wiki - Fandom

Germline mosaicism. A mosaic germline mutation can be very significant because it may be passed to the next generation. A person carrying a germ-line mosaic is ...

#85. 6.2 Somatic vs. Germline Mutations - Open Genetics

Such an individual is said to be a mosaic. An example is shown in Figure 6.2.1 Cancer cells are another example of mosaicism.

#86. Can germline mosaicism for autosomal dominant disorder be ...

No. Germline mosaicism is a condition in which a person's germ cells differ from each other. Those are the cells which produce eggs or sperm.

#87. Inheritance - Bohring-Opitz Syndrome

Germline Mosaicism. “This is the first report of Bohring-Opitz syndrome caused by a mutation inherited from an unaffected, somatic mosaic parent with presumed ...

#88. Volume 1516 | The New York Academy of Sciences

Fumarate hydratase gene germline variants and mosaicism associated with pheochromocytoma and paraganglioma · Xiaosen Ma, Yunying Cui, Yinjie Gao, ...

#89. Dna And Mutations Webquest Answer Key Copy

germline mutations, the multifactorial relationship of gene-environment ... From topics like gonadal mosaicism and.

#90. ECR Community - The PLOS Early Career Researcher ...

... Gerald Edelman, germline editing, Gillian M. Griffiths, Gina Czarnecki, Github ... mosaic, mosquito control, movement disorders, moving institutions ...

#91. Vaccines Could End the HIV Pandemic

Germline -Targeting HIV Vaccine Candidate Prepares Phase 1 Study ... Tetravalent Mosaic-Based HIV Vaccine Candidate Significantly Enhanced ...