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

Year Number of Results
1969 2
1970 1
1971 2
1972 2
1973 1
1974 3
1975 9
1976 9
1977 5
1978 7
1979 6
1980 4
1981 12
1982 9
1983 8
1984 19
1985 5
1986 9
1987 16
1988 13
1989 14
1990 14
1991 11
1992 20
1993 24
1994 19
1995 21
1996 33
1997 26
1998 20
1999 34
2000 35
2001 37
2002 28
2003 36
2004 39
2005 40
2006 39
2007 35
2008 34
2009 45
2010 50
2011 68
2012 70
2013 74
2014 61
2015 55
2016 69
2017 66
2018 56
2019 49
2020 53
2021 62
2022 42
2023 40
2024 34

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1,432 results

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Quoted phrase not found in phrase index: "Absent radius-anogenital anomalies syndrome"
Page 1
Axenfeld-Rieger syndrome: more than meets the eye.
Reis LM, Maheshwari M, Capasso J, Atilla H, Dudakova L, Thompson S, Zitano L, Lay-Son G, Lowry RB, Black J, Lee J, Shue A, Kremlikova Pourova R, Vaneckova M, Skalicka P, Jedlickova J, Trkova M, Williams B, Richard G, Bachman K, Seeley AH, Costakos D, Glaser TM, Levin AV, Liskova P, Murray JC, Semina EV. Reis LM, et al. J Med Genet. 2023 Apr;60(4):368-379. doi: 10.1136/jmg-2022-108646. Epub 2022 Jul 26. J Med Genet. 2023. PMID: 35882526 Free PMC article.
BACKGROUND: Axenfeld-Rieger syndrome (ARS) is characterised by typical anterior segment anomalies, with or without systemic features. ...Systemic anomalies were seen in all individuals with PITX2-related ARS and the majority of those with FOXC1-related ARS. . …
BACKGROUND: Axenfeld-Rieger syndrome (ARS) is characterised by typical anterior segment anomalies, with or without systemic fe …
Thrombocytopenia-absent radius syndrome.
Toriello HV. Toriello HV. Semin Thromb Hemost. 2011 Sep;37(6):707-12. doi: 10.1055/s-0031-1291381. Epub 2011 Nov 18. Semin Thromb Hemost. 2011. PMID: 22102274 Review.
Thrombocytopenia-absent radius (TAR) syndrome is a relatively uncommon condition characterized by absent radii with the presence of thumbs and congenital or early-onset thrombocytopenia that tends to resolve in childhood. ...However, this microdeletion alone …
Thrombocytopenia-absent radius (TAR) syndrome is a relatively uncommon condition characterized by absent radii with the …
Genetics of the patella.
Samuels ME, Campeau PM. Samuels ME, et al. Eur J Hum Genet. 2019 May;27(5):671-680. doi: 10.1038/s41431-018-0329-6. Epub 2019 Jan 21. Eur J Hum Genet. 2019. PMID: 30664715 Free PMC article. Review.
We review genetic diseases with identified molecular bases that include abnormal, reduced (hypoplasia), or absent (aplasia) patellae as a significant aspect of the phenotype. ...Patellar anomalies found in humans can be an important clue to a clinical genetic diagno …
We review genetic diseases with identified molecular bases that include abnormal, reduced (hypoplasia), or absent (aplasia) patellae …
Genetics of patella hypoplasia/agenesis.
Vanlerberghe C, Boutry N, Petit F. Vanlerberghe C, et al. Clin Genet. 2018 Jul;94(1):43-53. doi: 10.1111/cge.13209. Epub 2018 Apr 11. Clin Genet. 2018. PMID: 29322497 Review.
The patella is a sesamoid bone, crucial for knee stability. When absent or hypoplastic, recurrent knee subluxations, patellofemoral dysfunction and early gonarthrosis may occur. Patella hypoplasia/agenesis may be isolated or observed in syndromic conditions, either …
The patella is a sesamoid bone, crucial for knee stability. When absent or hypoplastic, recurrent knee subluxations, patellofemoral d …
Diagnosis and management of Abernethy syndrome.
Castro Rodríguez J, Rodríguez Perálvarez ML, Montero-Álvarez JL. Castro Rodríguez J, et al. Rev Esp Enferm Dig. 2024 Jan;116(1):1-6. doi: 10.17235/reed.2023.9781/2023. Rev Esp Enferm Dig. 2024. PMID: 37522317 Free article.
Abernethy syndrome (AS or extrahepatic portosystemic shunt) is an uncommon congenital malformation consisting of agenesis or hypoplasia of the portal vein (PV) in such a way that splanchnic venous blood drains directly into the systemic circulation through aberrant communi …
Abernethy syndrome (AS or extrahepatic portosystemic shunt) is an uncommon congenital malformation consisting of agenesis or hypoplas …
Thrombocytopenia absent radius syndrome.
de Ybarrondo L, Barratt MS. de Ybarrondo L, et al. Pediatr Rev. 2011 Sep;32(9):399-400; discussion 400. doi: 10.1542/pir.32-9-399. Pediatr Rev. 2011. PMID: 21885665 Review. No abstract available.
The electroretinogram.
Harden A, Adams GG, Taylor DS. Harden A, et al. Arch Dis Child. 1989 Jul;64(7):1080-7. doi: 10.1136/adc.64.7.1080. Arch Dis Child. 1989. PMID: 2629633 Free PMC article.
From this total, the electroretinographic findings in 240 patients, aged 1 day to 17 years, without suspected retinal pathology and with a normal visual evoked potential, were used as controls and normal electroretinographic parameters of different age groups defined. There were …
From this total, the electroretinographic findings in 240 patients, aged 1 day to 17 years, without suspected retinal pathology and with a n …
SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations.
Zarate YA, Fish JL. Zarate YA, et al. Am J Med Genet A. 2017 Feb;173(2):327-337. doi: 10.1002/ajmg.a.38022. Epub 2016 Oct 24. Am J Med Genet A. 2017. PMID: 27774744 Free PMC article. Review.
The SATB2-associated syndrome is a recently described syndrome characterized by developmental delay/intellectual disability with absent or limited speech development, craniofacial abnormalities, behavioral problems, dysmorphic features, and palatal and …
The SATB2-associated syndrome is a recently described syndrome characterized by developmental delay/intellectual disability wi …
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. ...We propose a classification of the patie …
We review 72 previously reported and 29 new patients with the possible diagnosis of Joubert syndrome. We define diagnostic criteria f …
Pituitary stalk interruption syndrome: cause, clinical manifestations, diagnosis, and management.
Voutetakis A, Sertedaki A, Dacou-Voutetakis C. Voutetakis A, et al. Curr Opin Pediatr. 2016 Aug;28(4):545-50. doi: 10.1097/MOP.0000000000000378. Curr Opin Pediatr. 2016. PMID: 27386973 Review.
PURPOSE OF REVIEW: Pituitary stalk interruption syndrome (PSIS) is characterized by a thin or absent pituitary stalk, hypoplasia of the adenohypophysis, and ectopic neurohypophysis. ...
PURPOSE OF REVIEW: Pituitary stalk interruption syndrome (PSIS) is characterized by a thin or absent pituitary stalk, hypoplas …
1,432 results