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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1980 1
1984 1
1990 1
1996 1
1998 1
1999 2
2000 1
2005 1
2006 1
2007 1
2008 1
2009 1
2010 2
2011 2
2012 1
2014 1
2015 2
2016 1
2017 1
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2019 1
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2021 3
2022 1
2024 0

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28 results

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Page 1
Amelia and phocomelia in Finland: Characteristics and prevalences in a nationwide population-based study.
Pakkasjärvi N, Syvänen J, Wiro M, Koskimies-Virta E. Pakkasjärvi N, et al. Birth Defects Res. 2022 Dec 1;114(20):1427-1433. doi: 10.1002/bdr2.2123. Epub 2022 Nov 9. Birth Defects Res. 2022. PMID: 36353751 Free PMC article.
While isolated cases are rare, they most likely present a better prognosis. Thus, correct diagnosis is essential in counseling for possible elective termination....
While isolated cases are rare, they most likely present a better prognosis. Thus, correct diagnosis is essential in counseling for po …
Successful pregnancy outcome in two sisters with cerebral palsy and phocomelia: a case report and literature review.
Cerovac A, Habek D, Cerovac E, Latifagić A, Hodžić E. Cerovac A, et al. Wien Med Wochenschr. 2021 Mar;171(3-4):79-81. doi: 10.1007/s10354-020-00791-w. Epub 2020 Dec 14. Wien Med Wochenschr. 2021. PMID: 33315162 Review.
CONCLUSION: There is a need to increase awareness, education, support, and advocacy in order to optimize pregnancy course and outcome in women with CP and phocomelia....
CONCLUSION: There is a need to increase awareness, education, support, and advocacy in order to optimize pregnancy course and outcome …
Obstetric US: watch the fetal hands.
Rypens F, Dubois J, Garel L, Fournet JC, Michaud JL, Grignon A. Rypens F, et al. Radiographics. 2006 May-Jun;26(3):811-29; discussion 830-1. doi: 10.1148/rg.263055113. Radiographics. 2006. PMID: 16702456 Review.
Malformations of the hand can be classified, according to the predominant anomaly, among the following categories: alignment abnormalities (clenched hand, camptodactyly, clinodactyly, hypokinesia, clubhand, phocomelia), thumb anomalies, abnormal size (macrodactyly, trident hand), …
Malformations of the hand can be classified, according to the predominant anomaly, among the following categories: alignment abnormalities ( …
Overview: developmental toxicology: new directions.
Shuey D, Kim JH. Shuey D, et al. Birth Defects Res B Dev Reprod Toxicol. 2011 Oct;92(5):381-3. doi: 10.1002/bdrb.20312. Epub 2011 Jul 18. Birth Defects Res B Dev Reprod Toxicol. 2011. PMID: 21770024
The following four articles describe different presentations and discussions that were held over the course of those 2 days....
The following four articles describe different presentations and discussions that were held over the course of those 2 days....
Juberg-Hayward syndrome is a cohesinopathy, caused by mutation in ESCO2.
Kantaputra PN, Dejkhamron P, Intachai W, Ngamphiw C, Kawasaki K, Ohazama A, Krisanaprakornkit S, Olsen B, Tongsima S, Ketudat Cairns JR. Kantaputra PN, et al. Eur J Orthod. 2021 Jan 29;43(1):45-50. doi: 10.1093/ejo/cjaa023. Eur J Orthod. 2021. PMID: 32255174
Parents were heterozygous for the mutation. The mutation is predicted to cause premature stop codon p.Arg552Ter. Mutations in ESCO2, a gene involved in cohesin complex formation, are known to cause Roberts/SC phocomelia syndrome. ...
Parents were heterozygous for the mutation. The mutation is predicted to cause premature stop codon p.Arg552Ter. Mutations in ESCO2, …
Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.
Schüle B, Oviedo A, Johnston K, Pai S, Francke U. Schüle B, et al. Am J Hum Genet. 2005 Dec;77(6):1117-28. doi: 10.1086/498695. Epub 2005 Oct 31. Am J Hum Genet. 2005. PMID: 16380922 Free PMC article.
Since only protein-truncating mutations were identified, regardless of clinical severity, we conclude that genotype does not predict phenotype. Having established that RBS and SC are caused by mutations in the same gene, we delineated the clinical phenotype of the tetrapho …
Since only protein-truncating mutations were identified, regardless of clinical severity, we conclude that genotype does not predict …
Neonatal End-of-Life Decision Making: The Possible Behavior of Greek Physicians, Midwives, and Nurses in Clinical Scenarios.
Dagla M, Petousi V, Poulios A. Dagla M, et al. Int J Environ Res Public Health. 2021 Apr 9;18(8):3938. doi: 10.3390/ijerph18083938. Int J Environ Res Public Health. 2021. PMID: 33918554 Free PMC article.
RESULTS: The majority of healthcare professionals would start and continue intensive care to (a) an extremely preterm neonate, (b) a full-term neonate with an unfavorable prognosis, and (c) a neonate with complete phocomelia. In cases (a) and (b), midwives and nurses compa …
RESULTS: The majority of healthcare professionals would start and continue intensive care to (a) an extremely preterm neonate, (b) a full-te …
28 results