Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome.
about
Selfish spermatogonial selection: evidence from an immunohistochemical screen in testes of elderly menPaternal age effect mutations and selfish spermatogonial selection: causes and consequences for human diseaseActivating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumorsAdvancing age has differential effects on DNA damage, chromatin integrity, gene mutations, and aneuploidies in sperm.Role of genomics in cardiovascular medicine.Sex: differences in mutation, recombination, selection, gene flow, and genetic drift.Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection.De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features.Spermatogonial Stem Cells: Implications for Genetic Disorders and Prevention.Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway.Germline Stem Cell Competition, Mutation Hot Spots, Genetic Disorders, and Older Fathers.Advanced Paternal Age and Risk of Musculoskeletal Congenital Anomalies in Offspring.A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders.Response to growth hormone treatment and final height in Noonan syndrome in a large cohort of patients in the KIGS database.Mutation Spectrum and Phenotypic Features in Noonan Syndrome with PTPN11 Mutations: Definition of Two Novel Mutations.[Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation].Two independent de novo mutations as a cause for neurofibromatosis type 1 and Noonan syndrome in a single family
P2860
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P2860
Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome.
description
2004 nî lūn-bûn
@nan
2004 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Paternal germline origin and s ...... mutations in Noonan syndrome.
@ast
Paternal germline origin and s ...... mutations in Noonan syndrome.
@en
type
label
Paternal germline origin and s ...... mutations in Noonan syndrome.
@ast
Paternal germline origin and s ...... mutations in Noonan syndrome.
@en
prefLabel
Paternal germline origin and s ...... mutations in Noonan syndrome.
@ast
Paternal germline origin and s ...... mutations in Noonan syndrome.
@en
P2093
P2860
P50
P356
P1476
Paternal germline origin and s ...... mutations in Noonan syndrome.
@en
P2093
Andrew Crosby
Bruce D Gelb
Hong Chang
Ineke van der Burgt
Kamini Kalidas
Mariella Sorcini
Michael A Patton
Steve Jeffery
P2860
P304
P356
10.1086/423493
P407
P577
2004-07-09T00:00:00Z