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Year Number of Results
1971 2
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1975 1
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1977 4
1978 2
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1980 2
1981 2
1982 5
1983 4
1984 9
1985 7
1986 5
1987 6
1988 5
1989 7
1990 5
1991 12
1992 9
1993 13
1994 15
1995 13
1996 14
1997 17
1998 12
1999 26
2000 19
2001 19
2002 22
2003 23
2004 26
2005 32
2006 32
2007 18
2008 25
2009 30
2010 31
2011 41
2012 29
2013 39
2014 39
2015 45
2016 38
2017 35
2018 30
2019 24
2020 38
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2024 17

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841 results

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Quoted phrase not found in phrase index: "Absent radius-anogenital anomalies syndrome"
Page 1
Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.
Rosenfeld JA, Traylor RN, Schaefer GB, McPherson EW, Ballif BC, Klopocki E, Mundlos S, Shaffer LG, Aylsworth AS; 1q21.1 Study Group. Rosenfeld JA, et al. Eur J Hum Genet. 2012 Jul;20(7):754-61. doi: 10.1038/ejhg.2012.6. Epub 2012 Feb 8. Eur J Hum Genet. 2012. PMID: 22317977 Free PMC article.
Proximal microdeletions are known as a susceptibility factor for thrombocytopenia-absent radius (TAR) syndrome, but it is unclear if these proximal microdeletions have other phenotypic consequences. ...Furthermore, one subject with TAR syndrome has a smaller, …
Proximal microdeletions are known as a susceptibility factor for thrombocytopenia-absent radius (TAR) syndrome, but it is uncl …
Sjogren's syndrome.
Hughes GR, Whaley K. Hughes GR, et al. Br Med J. 1972 Dec 2;4(5839):533-6. doi: 10.1136/bmj.4.5839.533. Br Med J. 1972. PMID: 4566018 Free PMC article. Review.
Sjogren's syndrome is a common accompaniment of rheumatoid arthritis and other connective-tissue diseases as well as several diseases thought to have an immunological basis. Despite the wide spectrum of clinical features and serological abnormalities the condition i …
Sjogren's syndrome is a common accompaniment of rheumatoid arthritis and other connective-tissue diseases as well as several diseases …
Human facial dysostoses.
Wieczorek D. Wieczorek D. Clin Genet. 2013 Jun;83(6):499-510. doi: 10.1111/cge.12123. Epub 2013 Apr 8. Clin Genet. 2013. PMID: 23565775 Review.
The limb anomalies in the AFDs can be classified into pre-axial, post-axial, and others not fitting into the first two AFD types. Of the pre-axial types, Nager syndrome and of the post-axial types, Miller syndrome are the best-known disorders of their AFD sub …
The limb anomalies in the AFDs can be classified into pre-axial, post-axial, and others not fitting into the first two AFD types. Of …
Society for Maternal-Fetal Medicine Consult Series #57: Evaluation and management of isolated soft ultrasound markers for aneuploidy in the second trimester: (Replaces Consults #10, Single umbilical artery, October 2010; #16, Isolated echogenic bowel diagnosed on second-trimester ultrasound, August 2011; #17, Evaluation and management of isolated renal pelviectasis on second-trimester ultrasound, December 2011; #25, Isolated fetal choroid plexus cysts, April 2013; #27, Isolated echogenic intracardiac focus, August 2013).
Society for Maternal-Fetal Medicine (SMFM). Electronic address: pubs@smfm.org; Prabhu M, Kuller JA, Biggio JR. Society for Maternal-Fetal Medicine (SMFM). Electronic address: pubs@smfm.org, et al. Am J Obstet Gynecol. 2021 Oct;225(4):B2-B15. doi: 10.1016/j.ajog.2021.06.079. Epub 2021 Jun 23. Am J Obstet Gynecol. 2021. PMID: 34171388
In this document, "isolated" is used to describe a soft marker that has been identified in the absence of any fetal structural anomaly, growth restriction, or additional soft marker following a detailed obstetrical ultrasound examination. ...The Society for Maternal-Fetal …
In this document, "isolated" is used to describe a soft marker that has been identified in the absence of any fetal structural anomaly …
Phenotype and genotype in Nicolaides-Baraitser syndrome.
Sousa SB, Hennekam RC; Nicolaides-Baraitser Syndrome International Consortium. Sousa SB, et al. Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):302-14. doi: 10.1002/ajmg.c.31409. Epub 2014 Aug 28. Am J Med Genet C Semin Med Genet. 2014. PMID: 25169058 Review.
Nicolaides-Baraitser syndrome (NCBRS) is an intellectual disability (ID)/multiple congenital anomalies syndrome caused by non-truncating mutations in the ATPase region of SMARCA2, which codes for one of the two alternative catalytic subunits of the BAF chroma …
Nicolaides-Baraitser syndrome (NCBRS) is an intellectual disability (ID)/multiple congenital anomalies syndrome caused …
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 …
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 …
Heredofamilial brain calcinosis syndrome.
Baba Y, Broderick DF, Uitti RJ, Hutton ML, Wszolek ZK. Baba Y, et al. Mayo Clin Proc. 2005 May;80(5):641-51. doi: 10.4065/80.5.641. Mayo Clin Proc. 2005. PMID: 15887432 Review.
Brain calcinosis syndrome (BCS) usually is defined as bilateral calcium accumulation in the brain parenchyma, primarily in the basal ganglia. ...More complicated mechanisms may be Involved when brain calcinosis is present but calcium, phosphorus, and parathyroid hormone me …
Brain calcinosis syndrome (BCS) usually is defined as bilateral calcium accumulation in the brain parenchyma, primarily in the basal …
Syndromes with cephaloceles.
Cohen MM Jr, Lemire RJ. Cohen MM Jr, et al. Teratology. 1982 Apr;25(2):161-72. doi: 10.1002/tera.1420250206. Teratology. 1982. PMID: 7101196
Encephaloceles may occur as isolated malformations or together with other anomalies making up various syndromes or associations. With the possible exception of the aberrant tissue band syndrome and the Meckel syndrome, little attention has been paid to …
Encephaloceles may occur as isolated malformations or together with other anomalies making up various syndromes or association …
Vici syndrome: a review.
Byrne S, Dionisi-Vici C, Smith L, Gautel M, Jungbluth H. Byrne S, et al. Orphanet J Rare Dis. 2016 Feb 29;11:21. doi: 10.1186/s13023-016-0399-x. Orphanet J Rare Dis. 2016. PMID: 26927810 Free PMC article. Review.
Vici syndrome [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of callosal agenesis, cataracts, oculocutaneous hypopigmentation, cardiomyopathy, and a combined immunodeficiency. ...Almost 40 EPG mutations have been …
Vici syndrome [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of callosal …
841 results