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Year Number of Results
1969 1
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1981 3
1985 1
1986 1
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1989 3
1990 3
1991 2
1992 2
1993 4
1994 2
1995 3
1996 7
1997 5
1998 4
1999 4
2000 7
2001 6
2002 10
2003 10
2004 5
2005 9
2006 10
2007 8
2008 8
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2012 5
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2014 10
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2022 22
2023 6

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266 results

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Page 1
Marfan syndrome.
Milewicz DM, Braverman AC, De Backer J, Morris SA, Boileau C, Maumenee IH, Jondeau G, Evangelista A, Pyeritz RE. Milewicz DM, et al. Nat Rev Dis Primers. 2021 Sep 2;7(1):64. doi: 10.1038/s41572-021-00298-7. Nat Rev Dis Primers. 2021. PMID: 34475413 Free PMC article. Review.
The most prominent manifestations of MFS are asymptomatic aortic root aneurysms, aortic dissections, dislocation of the ocular lens (ectopia lentis) and skeletal abnormalities that are characterized by overgrowth of the long bones. MFS is diagnosed based on the Ghen …
The most prominent manifestations of MFS are asymptomatic aortic root aneurysms, aortic dissections, dislocation of the ocular lens (ectopia …
Review of the Diagnosis and Treatment of Periodic Paralysis.
Statland JM, Fontaine B, Hanna MG, Johnson NE, Kissel JT, Sansone VA, Shieh PB, Tawil RN, Trivedi J, Cannon SC, Griggs RC. Statland JM, et al. Muscle Nerve. 2018 Apr;57(4):522-530. doi: 10.1002/mus.26009. Epub 2017 Nov 29. Muscle Nerve. 2018. PMID: 29125635 Free PMC article. Review.
Periodic paralyses (PPs) are rare neuromuscular disorders caused by mutations in skeletal muscle sodium, calcium, and potassium channel genes. PPs include hypokalemic paralysis, hyperkalemic paralysis, and Andersen-Tawil syndrome. ...
Periodic paralyses (PPs) are rare neuromuscular disorders caused by mutations in skeletal muscle sodium, calcium, and potassium chann …
Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
McDonald-McGinn DM, Sullivan KE. McDonald-McGinn DM, et al. Medicine (Baltimore). 2011 Jan;90(1):1-18. doi: 10.1097/MD.0b013e3182060469. Medicine (Baltimore). 2011. PMID: 21200182 Free article. Review.
Chromosome 22q11.2 deletion syndrome is a common syndrome also known as DiGeorge syndrome and velocardiofacial syndrome. ...Additional features include renal anomalies, eye anomalies, hypoparathyroidism, skeletal defects, and developmenta …
Chromosome 22q11.2 deletion syndrome is a common syndrome also known as DiGeorge syndrome and velocardiofacial syndr …
Alagille Syndrome: A Focused Review on Clinical Features, Genetics, and Treatment.
Kohut TJ, Gilbert MA, Loomes KM. Kohut TJ, et al. Semin Liver Dis. 2021 Nov;41(4):525-537. doi: 10.1055/s-0041-1730951. Epub 2021 Jul 2. Semin Liver Dis. 2021. PMID: 34215014 Review.
Alagille syndrome (ALGS) is an autosomal dominant disorder caused by pathogenic variants in JAG1 or NOTCH2, which encode fundamental components of the Notch signaling pathway. Clinical features span multiple organ systems including hepatic, cardiac, vascular, renal, ske …
Alagille syndrome (ALGS) is an autosomal dominant disorder caused by pathogenic variants in JAG1 or NOTCH2, which encode fundamental …
Marfan Syndrome: A Clinical Update.
Bitterman AD, Sponseller PD. Bitterman AD, et al. J Am Acad Orthop Surg. 2017 Sep;25(9):603-609. doi: 10.5435/JAAOS-D-16-00143. J Am Acad Orthop Surg. 2017. PMID: 28837453 Review.
Affected patients present with orthopaedic manifestations of the syndrome during all phases of life. Pain caused by musculoskeletal abnormalities often requires definitive orthopaedic treatment. Orthopaedic surgeons must understand the phenotypes of Marfan syndro …
Affected patients present with orthopaedic manifestations of the syndrome during all phases of life. Pain caused by musculoskeletal …
Noonan syndrome: improving recognition and diagnosis.
Zenker M, Edouard T, Blair JC, Cappa M. Zenker M, et al. Arch Dis Child. 2022 Dec;107(12):1073-1078. doi: 10.1136/archdischild-2021-322858. Epub 2022 Mar 4. Arch Dis Child. 2022. PMID: 35246453 Free PMC article. Review.
Noonan syndrome (NS) is a mostly dominantly inherited disorder affecting 1:1000 to 1:2500 live births. The phenotype varies in severity and can involve multiple organ systems over a patient's lifetime. Diagnosis is based on a combination of features, including typic …
Noonan syndrome (NS) is a mostly dominantly inherited disorder affecting 1:1000 to 1:2500 live births. The phenotype varies in severi …
Noonan syndrome and clinically related disorders.
Tartaglia M, Gelb BD, Zenker M. Tartaglia M, et al. Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):161-79. doi: 10.1016/j.beem.2010.09.002. Best Pract Res Clin Endocrinol Metab. 2011. PMID: 21396583 Free PMC article. Review.
Noonan syndrome is a relatively common, clinically variable developmental disorder. Cardinal features include postnatally reduced growth, distinctive facial dysmorphism, congenital heart defects and hypertrophic cardiomyopathy, variable cognitive defic …
Noonan syndrome is a relatively common, clinically variable developmental disorder. Cardinal features include postnatally reduced gro …
The Molecular Genetics of Marfan Syndrome.
Du Q, Zhang D, Zhuang Y, Xia Q, Wen T, Jia H. Du Q, et al. Int J Med Sci. 2021 May 27;18(13):2752-2766. doi: 10.7150/ijms.60685. eCollection 2021. Int J Med Sci. 2021. PMID: 34220303 Free PMC article. Review.
Marfan syndrome (MFS) is a complex connective tissue disease that is primarily characterized by cardiovascular, ocular and skeletal systems disorders. ...FBN1 is associated with MFS and the other genes such as FBN2, transforming growth factor beta (TGF-beta) recepto …
Marfan syndrome (MFS) is a complex connective tissue disease that is primarily characterized by cardiovascular, ocular and skeleta …
The expanding phenotypes of cohesinopathies: one ring to rule them all!
Piché J, Van Vliet PP, Pucéat M, Andelfinger G. Piché J, et al. Cell Cycle. 2019 Nov;18(21):2828-2848. doi: 10.1080/15384101.2019.1658476. Epub 2019 Sep 13. Cell Cycle. 2019. PMID: 31516082 Free PMC article. Review.
This review focuses on non-cohesion-related functions of the cohesin complex, gene dosage effect, epigenetic regulation and TGF-beta in cohesinopathy context, especially in comparison to Chronic Atrial and Intestinal Dysrhythmia (CAID) syndrome, a very distinct cohesinopat …
This review focuses on non-cohesion-related functions of the cohesin complex, gene dosage effect, epigenetic regulation and TGF-beta in cohe …
Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature.
Upadhyai P, Amiri EF, Guleria VS, Bielas SL, Girisha KM, Shukla A. Upadhyai P, et al. Clin Dysmorphol. 2020 Jul;29(3):127-131. doi: 10.1097/MCD.0000000000000327. Clin Dysmorphol. 2020. PMID: 32459673 Free PMC article. Review.
The clinical phenotype of 1q21.1 microdeletion syndrome is highly heterogeneous. It is characterized by dysmorphic facial features, microcephaly, and developmental delay. Several congenital defects, including cardiac, ocular, skeletal anomalies, and ps …
The clinical phenotype of 1q21.1 microdeletion syndrome is highly heterogeneous. It is characterized by dysmorphic facial features, m …
266 results