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

Year Number of Results
1969 1
1974 1
1975 1
1976 2
1977 3
1978 1
1980 2
1981 1
1982 5
1983 6
1984 4
1985 5
1987 3
1988 5
1989 8
1990 2
1991 4
1992 11
1993 7
1994 14
1995 11
1996 11
1997 14
1998 12
1999 20
2000 16
2001 11
2002 17
2003 16
2004 18
2005 13
2006 23
2007 17
2008 12
2009 17
2010 28
2011 31
2012 20
2013 26
2014 24
2015 23
2016 27
2017 28
2018 17
2019 21
2020 30
2021 17
2022 15
2023 12
2024 13

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579 results

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Quoted phrase not found in phrase index: "Absent radius-anogenital anomalies syndrome"
Page 1
Omphalocele-What should we tell the prospective parents?
Adams AD, Stover S, Rac MW. Adams AD, et al. Prenat Diagn. 2021 Mar;41(4):486-496. doi: 10.1002/pd.5886. Epub 2021 Feb 4. Prenat Diagn. 2021. PMID: 33540475 Review.
Approximately, 50% of cases are associated with genetic and multiple malformation syndromes including trisomy 13/18, pentalogy of Cantrell and Beckwith-Wiedemann syndrome. Therefore, a thorough evaluation is recommended, including detailed anatomic survey, fetal ech …
Approximately, 50% of cases are associated with genetic and multiple malformation syndromes including trisomy 13/18, pentalogy of Can …
The hyper IgM syndromes: Epidemiology, pathogenesis, clinical manifestations, diagnosis and management.
Yazdani R, Fekrvand S, Shahkarami S, Azizi G, Moazzami B, Abolhassani H, Aghamohammadi A. Yazdani R, et al. Clin Immunol. 2019 Jan;198:19-30. doi: 10.1016/j.clim.2018.11.007. Epub 2018 Nov 13. Clin Immunol. 2019. PMID: 30439505 Review.
Hyper Immunoglobulin M syndrome (HIGM) is a rare primary immunodeficiency disorder characterized by low or absent levels of serum IgG, IgA, IgE and normal or increased levels of serum IgM. ...Herein, the epidemiology, pathogenesis, clinical manifestations, diagnosis …
Hyper Immunoglobulin M syndrome (HIGM) is a rare primary immunodeficiency disorder characterized by low or absent levels of se …
Autonomic involvement in Guillain-Barre syndrome: an update.
Zaeem Z, Siddiqi ZA, Zochodne DW. Zaeem Z, et al. Clin Auton Res. 2019 Jun;29(3):289-299. doi: 10.1007/s10286-018-0542-y. Epub 2018 Jul 17. Clin Auton Res. 2019. PMID: 30019292 Review.
BACKGROUND: Guillain-Barre syndrome (GBS), an inflammatory, usually demyelinating polyradiculopathy, is characterized by ascending symmetrical limb weakness, sensory disturbances, and absent or reduced deep tendon reflexes. ...METHODS: A PubMed search yielded 193 re …
BACKGROUND: Guillain-Barre syndrome (GBS), an inflammatory, usually demyelinating polyradiculopathy, is characterized by ascending sy …
Infant mortality.
[No authors listed] [No authors listed] Lancet. 1988 Nov 12;2(8620):1117-8. Lancet. 1988. PMID: 2903329
In turn, most of these postneonatal deaths were attributable to sudden infant death syndrome (SIDS) and took place in the 1st quarter (January-March) of 1986, an unusually cold period. ...However, a recent study has revealed that the excess in SIDS deaths in 1986 was almos …
In turn, most of these postneonatal deaths were attributable to sudden infant death syndrome (SIDS) and took place in the 1st quarter …
Branchio-oto-renal syndrome.
Rodríguez Soriano J. Rodríguez Soriano J. J Nephrol. 2003 Jul-Aug;16(4):603-5. J Nephrol. 2003. PMID: 14696767 Review.
Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by the association of branchial cysts or fistulae, external ear malformation and/or preauricular pits, hearing loss and renal anomalies. Mutations in the EYA1 gene, a human homologue o …
Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by the association of branchial cysts or fistulae, …
Electrophysiology in Fisher syndrome.
Kuwabara S, Sekiguchi Y, Misawa S. Kuwabara S, et al. Clin Neurophysiol. 2017 Jan;128(1):215-219. doi: 10.1016/j.clinph.2016.11.009. Epub 2016 Nov 20. Clin Neurophysiol. 2017. PMID: 27923188 Review.
Fisher syndrome (FS), a variant of Guillain-Barre syndrome (GBS), is characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia. ...This review summarizes electrophysiological abnormalities and their clinical significance in FS....
Fisher syndrome (FS), a variant of Guillain-Barre syndrome (GBS), is characterized by the clinical triad of ophthalmoplegia, a …
Tetralogy of Fallot and absent pulmonary valve syndrome.
Nuri H, Virgone A. Nuri H, et al. Multimed Man Cardiothorac Surg. 2022 Nov 8;2022. doi: 10.1510/mmcts.2022.071. Multimed Man Cardiothorac Surg. 2022. PMID: 36345972 Free article.
Absent pulmonary valve syndrome is a relatively rare condition, representing a subset of about 3% of cases of tetralogy of Fallot in both autopsy and clinical reviews (1). ...Another important feature of absent pulmonary valve syndrome is the marked an …
Absent pulmonary valve syndrome is a relatively rare condition, representing a subset of about 3% of cases of tetralogy of Fal …
Joubert syndrome: a review.
Saraiva JM, Baraitser M. Saraiva JM, et al. Am J Med Genet. 1992 Jul 1;43(4):726-31. doi: 10.1002/ajmg.1320430415. Am J Med Genet. 1992. PMID: 1341417 Review.
We review 72 previously reported and 29 new patients with the possible diagnosis of Joubert syndrome. We define diagnostic criteria for this syndrome and present the data available in 94 patients that fulfill our criteria. ...Retinal dystrophy runs true in families …
We review 72 previously reported and 29 new patients with the possible diagnosis of Joubert syndrome. We define diagnostic criteria f …
Management and outcome of prenatal absent pulmonary valve syndrome.
Recker F, Weber EC, Strizek B, Geipel A, Berg C, Gembruch U. Recker F, et al. Arch Gynecol Obstet. 2022 Nov;306(5):1449-1454. doi: 10.1007/s00404-022-06397-4. Epub 2022 Jan 18. Arch Gynecol Obstet. 2022. PMID: 35043273 Free PMC article.
OBJECTIVE: The purpose of this study was to explore the outcome in fetuses with prenatal diagnosis of absent pulmonary valve syndrome (APVS) on ultrasound imaging. METHODS: A manual web scraping technique was utilized, where MEDLINE and EMBASE were searched along th …
OBJECTIVE: The purpose of this study was to explore the outcome in fetuses with prenatal diagnosis of absent pulmonary valve syndr …
Hepatorenal syndrome.
Kramer L, Hörl WH. Kramer L, et al. Semin Nephrol. 2002 Jul;22(4):290-301. Semin Nephrol. 2002. PMID: 12118394 Free article. Review.
The hepatorenal syndrome is defined as functional renal failure in advanced chronic or acute liver disease with portal hypertension. Morphologic abnormalities of the kidneys are frequently absent and tubular function is preserved. ...
The hepatorenal syndrome is defined as functional renal failure in advanced chronic or acute liver disease with portal hypertension. …
579 results