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19,191 results

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Quoted phrase not found in phrase index: "Congenital neutropenia-myelofibrosis-nephromegaly syndrome"
Page 1
The trisomy 18 syndrome.
Cereda A, Carey JC. Cereda A, et al. Orphanet J Rare Dis. 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. Orphanet J Rare Dis. 2012. PMID: 23088440 Free PMC article. Review.
The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. ...The complexity and the severity of the clinical presentation at birth and …
The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chro …
Congenital hyperinsulinism disorders: Genetic and clinical characteristics.
Rosenfeld E, Ganguly A, De Leon DD. Rosenfeld E, et al. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):682-692. doi: 10.1002/ajmg.c.31737. Epub 2019 Aug 14. Am J Med Genet C Semin Med Genet. 2019. PMID: 31414570 Free PMC article. Review.
Congenital hyperinsulinism (HI) is the most frequent cause of persistent hypoglycemia in infants and children. ...There are at least nine known monogenic forms of HI as well as several syndromic forms. Molecular diagnosis allows for prediction of responsiveness to m …
Congenital hyperinsulinism (HI) is the most frequent cause of persistent hypoglycemia in infants and children. ...There are at least …
Craniosynostosis: Neonatal Perspectives.
Bautista G. Bautista G. Neoreviews. 2021 Apr;22(4):e250-e257. doi: 10.1542/neo.22-4-e250. Neoreviews. 2021. PMID: 33795400
Craniosynostosis is the premature fusion of 1 or more sutures that normally separate the bony plates of an infant's skull and occurs in about 1 in 2,000 to 2,500 live births. Primary or congenital craniosynostoses represent the majority of cases and consist of single-sutur …
Craniosynostosis is the premature fusion of 1 or more sutures that normally separate the bony plates of an infant's skull and occurs in abou …
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Aref-Eshghi E, Kerkhof J, Pedro VP; Groupe DI France; Barat-Houari M, Ruiz-Pallares N, Andrau JC, Lacombe D, Van-Gils J, Fergelot P, Dubourg C, Cormier-Daire V, Rondeau S, Lecoquierre F, Saugier-Veber P, Nicolas G, Lesca G, Chatron N, Sanlaville D, Vitobello A, Faivre L, Thauvin-Robinet C, Laumonnier F, Raynaud M, Alders M, Mannens M, Henneman P, Hennekam RC, Velasco G, Francastel C, Ulveling D, Ciolfi A, Pizzi S, Tartaglia M, Heide S, Héron D, Mignot C, Keren B, Whalen S, Afenjar A, Bienvenu T, Campeau PM, Rousseau J, Levy MA, Brick L, Kozenko M, Balci TB, Siu VM, Stuart A, Kadour M, Masters J, Takano K, Kleefstra T, de Leeuw N, Field M, Shaw M, Gecz J, Ainsworth PJ, Lin H, Rodenhiser DI, Friez MJ, Tedder M, Lee JA, DuPont BR, Stevenson RE, Skinner SA, Schwartz CE, Genevieve D, Sadikovic B. Aref-Eshghi E, et al. Am J Hum Genet. 2020 Mar 5;106(3):356-370. doi: 10.1016/j.ajhg.2020.01.019. Epub 2020 Feb 27. Am J Hum Genet. 2020. PMID: 32109418 Free PMC article.
An expanding number of genetic syndromes have been shown to have unique genomic DNA methylation patterns (called "episignatures"). ...We present here an approach to episignature mapping in 42 genetic syndromes, which has allowed the identification of 34 robust disea …
An expanding number of genetic syndromes have been shown to have unique genomic DNA methylation patterns (called "episignatures"). .. …
Congenital neutropenia syndromes.
Boztug K, Welte K, Zeidler C, Klein C. Boztug K, et al. Immunol Allergy Clin North Am. 2008 May;28(2):259-75, vii-viii. doi: 10.1016/j.iac.2008.01.007. Immunol Allergy Clin North Am. 2008. PMID: 18424332 Review.
Congenital neutropenia syndromes comprise a heterogeneous group of inherited disorders. ...Recently, several novel genetic defects were described in patients with congenital neutropenia, shedding light on the pathophysiology of these rare diseases....
Congenital neutropenia syndromes comprise a heterogeneous group of inherited disorders. ...Recently, several novel genetic def …
Etiologies of uterine malformations.
Jacquinet A, Millar D, Lehman A. Jacquinet A, et al. Am J Med Genet A. 2016 Aug;170(8):2141-72. doi: 10.1002/ajmg.a.37775. Epub 2016 Jun 8. Am J Med Genet A. 2016. PMID: 27273803 Review.
Ranging from aplastic uterus (including Mayer-Rokitansky-Kuster-Hauser syndrome) to incomplete septate uterus, uterine malformations as a group are relatively frequent in the general population. ...Although most occurrences ostensibly seem sporadic, familial recurrences ha …
Ranging from aplastic uterus (including Mayer-Rokitansky-Kuster-Hauser syndrome) to incomplete septate uterus, uterine malformations …
Brown's syndrome.
Wilson ME, Eustis HS Jr, Parks MM. Wilson ME, et al. Surv Ophthalmol. 1989 Nov-Dec;34(3):153-72. doi: 10.1016/0039-6257(89)90100-8. Surv Ophthalmol. 1989. PMID: 2694414 Review.
"True" and "simulated" as descriptive modifiers should also be discarded, as they relate to the disproven sheath concept. Brown's syndrome occurs as a congenital or acquired, constant or intermittent condition; the common link is restriction of free movement through …
"True" and "simulated" as descriptive modifiers should also be discarded, as they relate to the disproven sheath concept. Brown's syndrom …
Interstitial Lung Disease in Rare Congenital Syndromes.
Jezela-Stanek A. Jezela-Stanek A. J Mother Child. 2020 Jul 29;24(1):47-52. doi: 10.34763/jmotherandchild.2020241.1931.000004. J Mother Child. 2020. PMID: 33074183 Free PMC article. Review.
Its aetiology varies (which makes the diagnostic process difficult), but congenital diseases, including malformation syndromes or developmental disorders, constitute one of the causative factors. ...However, considering the progress and increasing availability of ge …
Its aetiology varies (which makes the diagnostic process difficult), but congenital diseases, including malformation syndromes …
Genetic characteristics of patients with congenital hyperinsulinism.
Vajravelu ME, De León DD. Vajravelu ME, et al. Curr Opin Pediatr. 2018 Aug;30(4):568-575. doi: 10.1097/MOP.0000000000000645. Curr Opin Pediatr. 2018. PMID: 29750770 Free PMC article. Review.
PURPOSE OF REVIEW: Congenital hyperinsulinism is the most common cause of persistent hypoglycemia in infants and children. ...Inactivating mutations in the genes encoding the ATP-sensitive potassium channel (KATP hyperinsulinism) account for 60% of all identifiable mutatio …
PURPOSE OF REVIEW: Congenital hyperinsulinism is the most common cause of persistent hypoglycemia in infants and children. ...Inactiv …
Management of acute aortic syndrome.
Clough RE, Nienaber CA. Clough RE, et al. Nat Rev Cardiol. 2015 Feb;12(2):103-14. doi: 10.1038/nrcardio.2014.203. Epub 2014 Dec 16. Nat Rev Cardiol. 2015. PMID: 25511084 Review.
Acute aortic syndrome (AAS) encompasses a group of severe, life-threatening disorders of the aorta, including acute aortic dissection, intramural haematoma (IMH), and penetrating aortic ulcer (PAU). ...Aortic dissection is the most common form of AAS, followed by IMH and P …
Acute aortic syndrome (AAS) encompasses a group of severe, life-threatening disorders of the aorta, including acute aortic dissection …
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