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

Year Number of Results
1966 1
1970 1
1975 2
1976 2
1977 3
1978 5
1979 3
1980 3
1981 3
1982 5
1983 6
1984 4
1985 9
1986 2
1987 3
1988 4
1989 5
1990 2
1991 8
1992 7
1993 5
1994 7
1995 3
1996 5
1997 8
1998 8
1999 5
2000 11
2001 12
2002 10
2003 10
2004 13
2005 10
2006 13
2007 18
2008 18
2009 21
2010 11
2011 24
2012 16
2013 20
2014 19
2015 26
2016 27
2017 29
2018 18
2019 21
2020 28
2021 16
2022 17
2023 21
2024 8

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493 results

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Page 1
The European guideline on management of major bleeding and coagulopathy following trauma: fifth edition.
Spahn DR, Bouillon B, Cerny V, Duranteau J, Filipescu D, Hunt BJ, Komadina R, Maegele M, Nardi G, Riddez L, Samama CM, Vincent JL, Rossaint R. Spahn DR, et al. Crit Care. 2019 Mar 27;23(1):98. doi: 10.1186/s13054-019-2347-3. Crit Care. 2019. PMID: 30917843 Free PMC article.
Existing recommendations were re-examined and revised based on scientific evidence that has emerged since the previous edition and observed shifts in clinical practice. New recommendations were formulated to reflect current clinical concerns and areas in which new research …
Existing recommendations were re-examined and revised based on scientific evidence that has emerged since the previous edition and observ …
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M; University of Washington Center for Mendelian Genomics; Chance P, Parisi MA, Glass IA, Shendure J, Doherty D. Bachmann-Gagescu R, et al. J Med Genet. 2015 Aug;52(8):514-22. doi: 10.1136/jmedgenet-2015-103087. Epub 2015 Jun 19. J Med Genet. 2015. PMID: 26092869 Free PMC article.
Variant pathogenicity was defined using the Combined Annotation Dependent Depletion algorithm with an optimised score cut-off. RESULTS: We identified presumed causal variants in 62% of pedigrees, including the first B9D2 mutations associated with JS. 253 different mutation …
Variant pathogenicity was defined using the Combined Annotation Dependent Depletion algorithm with an optimised score cut-off. RESULT …
A randomized trial of prenatal versus postnatal repair of myelomeningocele.
Adzick NS, Thom EA, Spong CY, Brock JW 3rd, Burrows PK, Johnson MP, Howell LJ, Farrell JA, Dabrowiak ME, Sutton LN, Gupta N, Tulipan NB, D'Alton ME, Farmer DL; MOMS Investigators. Adzick NS, et al. N Engl J Med. 2011 Mar 17;364(11):993-1004. doi: 10.1056/NEJMoa1014379. Epub 2011 Feb 9. N Engl J Med. 2011. PMID: 21306277 Free PMC article. Clinical Trial.
Prenatal surgery also resulted in improvement in the composite score for mental development and motor function at 30 months (P=0.007) and in improvement in several secondary outcomes, including hindbrain herniation by 12 months and ambulation by 30 months. ...
Prenatal surgery also resulted in improvement in the composite score for mental development and motor function at 30 months (P=0.007) …
The clinical characteristics and treatment of cerebral AVM in pregnancy.
Lv X, Liu P, Li Y. Lv X, et al. Neuroradiol J. 2015 Jun;28(3):234-7. doi: 10.1177/1971400915589692. Neuroradiol J. 2015. PMID: 26246089 Free PMC article. Review.
For an unruptured AVM in pregnancy, if there are no bleeding factors, e.g. no coexisting aneurysm, smooth venous drainage, no venous ectasia, or high risk of treatment, then it should be observed conservatively....
For an unruptured AVM in pregnancy, if there are no bleeding factors, e.g. no coexisting aneurysm, smooth venous drainage, no venous ectasia …
Cilia, ciliopathies and hedgehog-related forebrain developmental disorders.
Andreu-Cervera A, Catala M, Schneider-Maunoury S. Andreu-Cervera A, et al. Neurobiol Dis. 2021 Mar;150:105236. doi: 10.1016/j.nbd.2020.105236. Epub 2020 Dec 28. Neurobiol Dis. 2021. PMID: 33383187 Free article. Review.
The purpose of this review is to provide the reader with a framework to understand the developmental origin of the forebrain defects observed in severe ciliopathies with respect to perturbations of the Shh pathway. ...
The purpose of this review is to provide the reader with a framework to understand the developmental origin of the forebrain defects obse …
Clinical nosologic and genetic aspects of Joubert and related syndromes.
Chance PF, Cavalier L, Satran D, Pellegrino JE, Koenig M, Dobyns WB. Chance PF, et al. J Child Neurol. 1999 Oct;14(10):660-6; discussion 669-72. doi: 10.1177/088307389901401007. J Child Neurol. 1999. PMID: 10511339 Review.
Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" …
Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associ …
Temporal encephalocele: a rare but treatable cause of temporal lobe epilepsy.
Jagtap SA, Kurwale N, Patil S, Bapat D, Joshi A, Chitnis S, Deshmukh Y, Nilegaonkar S. Jagtap SA, et al. Epileptic Disord. 2022 Dec 1;24(6):1073-1080. doi: 10.1684/epd.2022.1487. Epileptic Disord. 2022. PMID: 36153932 Free article. English.
The ideal treatment for temporal encephalocele remains unclear with a variety of resective surgeries recommended. ...METHODS: Comprehensive databases at Deenanath Mangeshkar Hospital, Pune from January 2015 to June 2019 were reviewed for this observational study. Of …
The ideal treatment for temporal encephalocele remains unclear with a variety of resective surgeries recommended. ...METHODS: Compreh …
A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele.
Crane-Smith Z, De Castro SCP, Nikolopoulou E, Wolujewicz P, Smedley D, Lei Y, Mather E, Santos C, Hopkinson M, Pitsillides AA; Genomics England Research Consortium; Finnell RH, Ross ME, Copp AJ, Greene NDE. Crane-Smith Z, et al. Hum Mol Genet. 2023 Aug 26;32(17):2681-2692. doi: 10.1093/hmg/ddad094. Hum Mol Genet. 2023. PMID: 37364051 Free PMC article.
These include orofacial clefts comprising midline cleft lip and palate and abnormalities of the craniofacial bones and frontal and/or basal encephalocele, in which brain tissue herniates through the cranium or into the nasal cavity. To investigate the causative mutation in …
These include orofacial clefts comprising midline cleft lip and palate and abnormalities of the craniofacial bones and frontal and/or basal …
Research process, recap, and prediction of Chiari malformation based on bicentennial history of nomenclature and terms misuse.
He Y, Zhang M, Qin X, Huang C, Liu P, Tao Y, Wang Y, Guo L, Bao M, Li H, Mao Z, Li N, He Z, Wu B. He Y, et al. Neurosurg Rev. 2023 Nov 29;46(1):316. doi: 10.1007/s10143-023-02207-w. Neurosurg Rev. 2023. PMID: 38030943 Review.
All literature on the nomenclature of CMs was retrieved and extracted into core terms. Subsequently, keyword analysis, preceding and predicting (2023-2025) compound annual growth rate (CAGR) of each core term, was calculated using a mathematical formula and autoregressive …
All literature on the nomenclature of CMs was retrieved and extracted into core terms. Subsequently, keyword analysis, preceding and pred …
CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence.
Silveira KC, Fonseca IC, Oborn C, Wengryn P, Ghafoor S, Beke A, Dreseris ES, Wong C, Iacovone A, Soltys CL, Babul-Hirji R, Artigalas O, Antolini-Tavares A, Gingras AC, Campos E, Cavalcanti DP, Kannu P. Silveira KC, et al. Hum Genet. 2023 Nov;142(11):1571-1586. doi: 10.1007/s00439-023-02598-2. Epub 2023 Sep 27. Hum Genet. 2023. PMID: 37755482 Free PMC article.
A limited number of individuals with pathogenic variants in CYP26B1 have been documented with a varied phenotypic spectrum, spanning from a severe manifestation involving skull anomalies, craniosynostosis, encephalocele, radio-humeral fusion, oligodactyly, and a narrow tho …
A limited number of individuals with pathogenic variants in CYP26B1 have been documented with a varied phenotypic spectrum, spanning from a …
493 results