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

Year Number of Results
1995 2
1997 2
1998 1
2000 1
2002 1
2004 1
2006 1
2013 1
2014 2
2015 2
2016 2
2017 1
2018 2
2019 2
2020 1
2023 0

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19 results

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Page 1
22q11.2 deletion syndrome and congenital heart disease.
Goldmuntz E. Goldmuntz E. Am J Med Genet C Semin Med Genet. 2020 Mar;184(1):64-72. doi: 10.1002/ajmg.c.31774. Epub 2020 Feb 12. Am J Med Genet C Semin Med Genet. 2020. PMID: 32049433 Review.
The 22q11.2 deletion syndrome has an estimated prevalence of 1 in 4-6,000 livebirths. The phenotype varies widely; the most common features include: facial dysmorphia, hypocalcemia, palate and speech disorders, feeding and gastrointestinal disorders, immunodeficiency, recu …
The 22q11.2 deletion syndrome has an estimated prevalence of 1 in 4-6,000 livebirths. The phenotype varies widely; the most common fe …
Shprintzen-Goldberg syndrome: a rare disorder.
Yadav S, Rawal G. Yadav S, et al. Pan Afr Med J. 2016 Apr 25;23:227. doi: 10.11604/pamj.2016.23.227.7482. eCollection 2016. Pan Afr Med J. 2016. PMID: 27761171 Free PMC article. Review.
Shprintzen-Goldberg Syndrome is an extremely infrequent disorder of connective tissue, characterized by craniosynostosis and marfanoid features, also known as Marfanoid Craniosynostosis syndrome. The syndrome was first introduced b …
Shprintzen-Goldberg Syndrome is an extremely infrequent disorder of connective tissue, characterized by craniosynost …
De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical review.
Au PY, Racher HE, Graham JM Jr, Kramer N, Lowry RB, Parboosingh JS, Innes AM; FORGE Canada Consortium. Au PY, et al. Am J Med Genet A. 2014 Mar;164A(3):676-84. doi: 10.1002/ajmg.a.36340. Epub 2013 Dec 19. Am J Med Genet A. 2014. PMID: 24357594 Review.
Shprintzen-Goldberg syndrome (OMIM #182212) is a connective tissue disorder characterized by craniosynostosis, distinctive craniofacial features, skeletal abnormalities, marfanoid body habitus, aortic dilatation, and intellectual disability. ...Therefo …
Shprintzen-Goldberg syndrome (OMIM #182212) is a connective tissue disorder characterized by craniosynostosis, d …
Shprintzen-Goldberg syndrome: a clinical analysis.
Greally MT, Carey JC, Milewicz DM, Hudgins L, Goldberg RB, Shprintzen RJ, Cousineau AJ, Smith WL Jr, Judisch GF, Hanson JW. Greally MT, et al. Am J Med Genet. 1998 Mar 19;76(3):202-12. Am J Med Genet. 1998. PMID: 9508238 Review.
Shprintzen-Goldberg syndrome is one of a group of disorders characterized by craniosynostosis and marfanoid habitus. ...However, radiologic investigations appear to be more specific, since an abnormality of the first and second cervical vertebrae, hydr …
Shprintzen-Goldberg syndrome is one of a group of disorders characterized by craniosynostosis and marfanoid habi …
Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis.
Rozas MF, Benavides F, León L, Repetto GM. Rozas MF, et al. Orphanet J Rare Dis. 2019 Aug 9;14(1):195. doi: 10.1186/s13023-019-1170-x. Orphanet J Rare Dis. 2019. PMID: 31399107 Free PMC article. Review.
BACKGROUND: Chromosome 22q11.2 microdeletion syndrome, a disorder caused by heterozygous loss of genetic material in chromosome region 22q11.2, has a broad range of clinical symptoms. ...
BACKGROUND: Chromosome 22q11.2 microdeletion syndrome, a disorder caused by heterozygous loss of genetic material in chromosome regio …
Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery.
Verstraeten A, Alaerts M, Van Laer L, Loeys B. Verstraeten A, et al. Hum Mutat. 2016 Jun;37(6):524-31. doi: 10.1002/humu.22977. Epub 2016 Mar 14. Hum Mutat. 2016. PMID: 26919284 Review.
Marfan syndrome (MFS) is a rare, autosomal-dominant, multisystem disorder, presenting with skeletal, ocular, skin, and cardiovascular symptoms. Significant clinical overlap with other systemic connective tissue diseases, including Loeys-Dietz syndrome (LDS), Shpr …
Marfan syndrome (MFS) is a rare, autosomal-dominant, multisystem disorder, presenting with skeletal, ocular, skin, and cardiovascular …
Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies.
Hayward C, Brock DJ. Hayward C, et al. Hum Mutat. 1997;10(6):415-23. doi: 10.1002/(SICI)1098-1004(1997)10:6<415::AID-HUMU1>3.0.CO;2-C. Hum Mutat. 1997. PMID: 9401003 Review.
Fibrillin-1 mutations have also been found in several other related connective tissue disorders, such as severe neonatal Marfan syndrome, dominant ectopia lentis, familial ascending aortic aneurysm, isolated skeletal features of Marfan syndrome, and Shprintzen …
Fibrillin-1 mutations have also been found in several other related connective tissue disorders, such as severe neonatal Marfan syndrome …
TGF-β signalopathies as a paradigm for translational medicine.
Cannaerts E, van de Beek G, Verstraeten A, Van Laer L, Loeys B. Cannaerts E, et al. Eur J Med Genet. 2015 Dec;58(12):695-703. doi: 10.1016/j.ejmg.2015.10.010. Epub 2015 Oct 24. Eur J Med Genet. 2015. PMID: 26598797 Review.
It was long believed that a structural impairment formed the basis of Marfan syndrome as deficiency in the structural extracellular matrix component, fibrillin-1 is the cause of Marfan syndrome. ...Similarly, this pathway was demonstrated to be key in the pathogenes …
It was long believed that a structural impairment formed the basis of Marfan syndrome as deficiency in the structural extracellular m …
Cardiovascular manifestations in Marfan syndrome and related diseases; multiple genes causing similar phenotypes.
Cook JR, Carta L, Galatioto J, Ramirez F. Cook JR, et al. Clin Genet. 2015;87(1):11-20. doi: 10.1111/cge.12436. Epub 2014 Jul 10. Clin Genet. 2015. PMID: 24867163 Review.
Cardiovascular abnormalities are the major cause of morbidity and mortality in Marfan syndrome (MFS) and a few clinically related diseases that share, with MFS, the pathogenic contribution of dysregulated transforming growth factor beta (TGFbeta) signaling. They include Lo …
Cardiovascular abnormalities are the major cause of morbidity and mortality in Marfan syndrome (MFS) and a few clinically related dis …
TGF-β Signaling-Related Genes and Thoracic Aortic Aneurysms and Dissections.
Takeda N, Hara H, Fujiwara T, Kanaya T, Maemura S, Komuro I. Takeda N, et al. Int J Mol Sci. 2018 Jul 21;19(7):2125. doi: 10.3390/ijms19072125. Int J Mol Sci. 2018. PMID: 30037098 Free PMC article. Review.
Accordingly, the mutations in TGF-beta signaling pathway-related genes cause heritable disorders of the connective tissue, such as Marfan syndrome (MFS), Loeys-Dietz syndrome (LDS), and Shprintzen-Goldberg syndrome (SGS), and these syndromes may …
Accordingly, the mutations in TGF-beta signaling pathway-related genes cause heritable disorders of the connective tissue, such as Marfan …
19 results