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

Year Number of Results
1947 1
1955 1
1960 1
1963 3
1964 6
1965 4
1966 3
1967 3
1968 3
1969 12
1970 10
1971 19
1972 18
1973 17
1974 23
1975 57
1976 52
1977 73
1978 65
1979 55
1980 65
1981 86
1982 70
1983 92
1984 114
1985 125
1986 114
1987 132
1988 151
1989 177
1990 184
1991 182
1992 245
1993 255
1994 289
1995 333
1996 330
1997 344
1998 407
1999 412
2000 394
2001 452
2002 446
2003 491
2004 468
2005 570
2006 537
2007 599
2008 637
2009 652
2010 754
2011 761
2012 757
2013 852
2014 850
2015 794
2016 777
2017 734
2018 792
2019 822
2020 869
2021 778
2022 607
2023 534
2024 247

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18,621 results

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Quoted phrase not found in phrase index: "Craniosynostosis-fibular aplasia syndrome"
Page 1
Alstrom syndrome.
Marshall JD, Beck S, Maffei P, Naggert JK. Marshall JD, et al. Eur J Hum Genet. 2007 Dec;15(12):1193-202. doi: 10.1038/sj.ejhg.5201933. Epub 2007 Oct 17. Eur J Hum Genet. 2007. PMID: 17940554
Very high incidences of additional disease phenotypes that may severely affect prognosis and survival include endocrine abnormalities, dilated cardiomyopathy, pulmonary fibrosis and restrictive lung disease, and progressive hepatic and renal failure. ...The life spa …
Very high incidences of additional disease phenotypes that may severely affect prognosis and survival include endocrine abnormalit …
Trigonocephaly.
Zanini SA, Paglioli Neto E, Viterbo F, da Costa AR, Tershakowec M. Zanini SA, et al. J Craniofac Surg. 1992 Sep;3(2):85-9. doi: 10.1097/00001665-199209000-00007. J Craniofac Surg. 1992. PMID: 1290788
Trigonocephaly has been described either as an isolated anomaly or as part of the clinical spectrum of some well-known syndromes. Treatment, complications, and prognosis are closely related to the manifestations of the associated anomalies. We report on the main typ …
Trigonocephaly has been described either as an isolated anomaly or as part of the clinical spectrum of some well-known syndromes. Tre …
Drug hypersensitivity syndrome.
Kumari R, Timshina DK, Thappa DM. Kumari R, et al. Indian J Dermatol Venereol Leprol. 2011 Jan-Feb;77(1):7-15. doi: 10.4103/0378-6323.74964. Indian J Dermatol Venereol Leprol. 2011. PMID: 21220873 Free article. Review.
Drug hypersensitivity syndrome (DHS) is an adverse drug reaction commonly associated with the aromatic antiepileptic drugs (AEDs), viz., phenytoin (PHT), carbamazepine (CBZ), phenobarbital (PB), lamotrigine, primidone, etc. ...Diagnosis of DHS may be difficult because of t …
Drug hypersensitivity syndrome (DHS) is an adverse drug reaction commonly associated with the aromatic antiepileptic drugs (AEDs), vi …
Incomplete Cord Syndromes: Clinical and Imaging Review.
Kunam VK, Velayudhan V, Chaudhry ZA, Bobinski M, Smoker WRK, Reede DL. Kunam VK, et al. Radiographics. 2018 Jul-Aug;38(4):1201-1222. doi: 10.1148/rg.2018170178. Radiographics. 2018. PMID: 29995620 Review.
The authors review the spinal cord anatomy, blood supply, and course of these tracts and describe the various associated syndromes: specifically, dorsal cord, ventral cord, central cord, Brown-Sequard, conus medullaris, and cauda equina syndromes. ...Knowledg …
The authors review the spinal cord anatomy, blood supply, and course of these tracts and describe the various associated syndromes …
Genetic bases of craniosynostoses: An update.
Armand T, Schaefer E, Di Rocco F, Edery P, Collet C, Rossi M. Armand T, et al. Neurochirurgie. 2019 Nov;65(5):196-201. doi: 10.1016/j.neuchi.2019.10.003. Epub 2019 Oct 9. Neurochirurgie. 2019. PMID: 31605683 Review.
Genetic causes are found in 20% of cases. CS can be isolated (non-syndromic CS/NSCS) or they can be part of multiple congenital abnormalities syndromes (syndromic CS/SCS). A few SCS, such as Crouzon, Pfeiffer, Apert and Saethre-Chotzen syndromes …
Genetic causes are found in 20% of cases. CS can be isolated (non-syndromic CS/NSCS) or they can be part of multiple congenital ab …
Combined pulmonary fibrosis and emphysema syndrome: a review.
Jankowich MD, Rounds SIS. Jankowich MD, et al. Chest. 2012 Jan;141(1):222-231. doi: 10.1378/chest.11-1062. Chest. 2012. PMID: 22215830 Free PMC article. Review.
There is increasing clinical, radiologic, and pathologic recognition of the coexistence of emphysema and pulmonary fibrosis in the same patient, resulting in a clinical syndrome known as combined pulmonary fibrosis and emphysema (CPFE) that is characterized by dyspnea, upp …
There is increasing clinical, radiologic, and pathologic recognition of the coexistence of emphysema and pulmonary fibrosis in the same pati …
Carpenter syndrome.
Hidestrand P, Vasconez H, Cottrill C. Hidestrand P, et al. J Craniofac Surg. 2009 Jan;20(1):254-6. doi: 10.1097/SCS.0b013e318184357a. J Craniofac Surg. 2009. PMID: 19165041
Carpenter syndrome is a rare autosomal recessive disorder that belongs to a group of rare craniosynostosis syndromes (Bull Soc Med Paris 1906;23:1310). Carpenter syndrome is the rarest, with only occasional patients seen. There are 3 common features in all of …
Carpenter syndrome is a rare autosomal recessive disorder that belongs to a group of rare craniosynostosis syndromes (Bull Soc …
Survival Trends and Syndromic Esophageal Atresia.
Tan Tanny SP, Beck C, King SK, Hawley A, Brooks JA, McLeod E, Hutson JM, Teague WJ. Tan Tanny SP, et al. Pediatrics. 2021 May;147(5):e2020029884. doi: 10.1542/peds.2020-029884. Pediatrics. 2021. PMID: 33911029
BACKGROUND AND OBJECTIVES: Presence of a syndrome (or association) is predictive of poor survival in esophageal atresia (EA). ...CONCLUSIONS: Survival of patients with syndromic EA has not improved, and patients with non-VACTERL syndromes have the high …
BACKGROUND AND OBJECTIVES: Presence of a syndrome (or association) is predictive of poor survival in esophageal atresia (EA). …
Syndromes in twins.
D'Alton ME, Simpson LL. D'Alton ME, et al. Semin Perinatol. 1995 Oct;19(5):375-86. doi: 10.1016/s0146-0005(05)80015-1. Semin Perinatol. 1995. PMID: 8821025 Review.
These conditions include monoamniotic twins, congenital anomalies unique to twins, ie, conjoined twins and acardia, intrauterine fetal demise, and twin-to-twin transfusion syndrome. These conditions are the subject of this review. The prenatal determination of chorionicity …
These conditions include monoamniotic twins, congenital anomalies unique to twins, ie, conjoined twins and acardia, intrauterine fetal demis …
Ablepharon-macrostomia syndrome.
Stevens CA, Sargent LA. Stevens CA, et al. Am J Med Genet. 2002 Jan 1;107(1):30-7. doi: 10.1002/ajmg.10123. Am J Med Genet. 2002. PMID: 11807864
We report three new cases of ablepharon-macrostomia syndrome (AMS) and give a 10-year follow-up on a newborn reported in an abstract. ...It also adds further evidence that AMS is distinct from Barber-Say syndrome, which has similar features....
We report three new cases of ablepharon-macrostomia syndrome (AMS) and give a 10-year follow-up on a newborn reported in an abstract. …
18,621 results
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