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Quoted phrase not found in phrase index: "Congenital Malformation Syndrome Related to Known Exogenous Cause"
Page 1
Mechanisms of oocyte aneuploidy associated with advanced maternal age.
Mikwar M, MacFarlane AJ, Marchetti F. Mikwar M, et al. Mutat Res Rev Mutat Res. 2020 Jul-Sep;785:108320. doi: 10.1016/j.mrrev.2020.108320. Epub 2020 Jul 4. Mutat Res Rev Mutat Res. 2020. PMID: 32800274 Review.
As females advance in age, they are at higher risk of infertility, miscarriage, or having a pregnancy affected by congenital birth defects such as Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), and Turner syndrome (monosomy X). Here, we rev …
As females advance in age, they are at higher risk of infertility, miscarriage, or having a pregnancy affected by congenital birth de …
Methods and concepts in detecting abnormal reproductive outcomes of paternal origin.
Wyrobek AJ. Wyrobek AJ. Reprod Toxicol. 1993;7 Suppl 1:3-16. doi: 10.1016/0890-6238(93)90064-e. Reprod Toxicol. 1993. PMID: 8400638 Review.
It is now well recognized that the importance of the father in reproduction goes beyond fertilization. Abnormalities in paternal chromosomes (structural and numeric) have been found in various abnormal reproductive outcomes, including chromosomal abnormality syndromes …
It is now well recognized that the importance of the father in reproduction goes beyond fertilization. Abnormalities in paternal chro …
Sensitivity of RECQL4-deficient fibroblasts from Rothmund-Thomson syndrome patients to genotoxic agents.
Jin W, Liu H, Zhang Y, Otta SK, Plon SE, Wang LL. Jin W, et al. Hum Genet. 2008 Jul;123(6):643-53. doi: 10.1007/s00439-008-0518-4. Epub 2008 May 27. Hum Genet. 2008. PMID: 18504617 Free PMC article.
RECQ helicase protein-like 4 (RECQL4) is a member of the human RECQ family of DNA helicases. Two-thirds of patients with Rothmund-Thomson syndrome (RTS) carry biallelic inactivating mutations in the RECQL4 gene. RTS is an autosomal recessive disorder characterized b …
RECQ helicase protein-like 4 (RECQL4) is a member of the human RECQ family of DNA helicases. Two-thirds of patients with Rothmund-Tho …
The paracrine effect of exogenous growth hormone alleviates dysmorphogenesis caused by tbx5 deficiency in zebrafish (Danio rerio) embryos.
Tsai TC, Lu JK, Choo SL, Yeh SY, Tang RB, Lee HY, Lu JH. Tsai TC, et al. J Biomed Sci. 2012 Jul 9;19(1):63. doi: 10.1186/1423-0127-19-63. J Biomed Sci. 2012. PMID: 22776023 Free PMC article.
BACKGROUND: Dysmorphogenesis and multiple organ defects are well known in zebrafish (Danio rerio) embryos with T-box transcription factor 5 (tbx5) deficiencies, mimicking human Holt-Oram syndrome. ...CONCLUSIONS: Based on our results, tbx5 knockdown causes a …
BACKGROUND: Dysmorphogenesis and multiple organ defects are well known in zebrafish (Danio rerio) embryos with T-box transcription fa …
Altered LINE-1 Methylation in Mothers of Children with Down Syndrome.
Božović IB, Stanković A, Živković M, Vraneković J, Kapović M, Brajenović-Milić B. Božović IB, et al. PLoS One. 2015 May 27;10(5):e0127423. doi: 10.1371/journal.pone.0127423. eCollection 2015. PLoS One. 2015. PMID: 26017139 Free PMC article.
Down syndrome (DS, also known as trisomy 21) most often results from chromosomal nondisjunction during oogenesis. ...This study aimed to asses the risk for DS in association with maternal global DNA methylation and the impact of endogenous and exogenous facto …
Down syndrome (DS, also known as trisomy 21) most often results from chromosomal nondisjunction during oogenesis. ...This stud …
Brachydactyly type E in two sibs with increased bone density and mental retardation. A new autosomal recessive syndrome?
Stoll C, Alembik Y. Stoll C, et al. Genet Couns. 2004;15(4):421-8. Genet Couns. 2004. PMID: 15658617
Brachydactyly type E in two sibs with increased bone density and mental retardation. A new autosomal recessive syndrome?: We report on two sibs, a boy and a girl, with syndromic brachydactyly type E. ...Analysis of 2q showed that there was no deletion 2q37. Other …
Brachydactyly type E in two sibs with increased bone density and mental retardation. A new autosomal recessive syndrome?: We report o …