Top 20 of Arachnodactyly

Article title # Publications/# Citations

VARIATIONS IN KERATOSULFATES.

1965: BAnderson; PHoffman; KMeyer; NSeno;

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Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa.

2007: NLCharbonneau; MLChu; MDasouki; RGarola; DMarkova; LYSakai; TSasaki;

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HOMOCYSTINURIA. STUDIES OF 20 FAMILIES WITH 38 AFFECTED MEMBERS.

1965: THuang; VAMcKusick; ADPollack; RNSchimke;

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Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.

2012: PHArn; SLBessling; MJCaulfield; CJCurry; ADestrée; HCDietz; AJDoyle; JJDoyle; ... EGillis; RCHennekam; THomfray; NDHuso; DLeahy; MELindsay; BLLoeys; SMaragh; ASMcCallion; DWMohr; GMortier; RANorris; KSauls; DSchepers; AFScott; LVan Laer;

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PATHOLOGICAL FINDINGS IN HOMOCYSTINURIA.

1964: NACarson; JBGibson; DWNeill;

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Marfan's syndrome in Northern Ireland; an account of thirteen families.

1958: MALynas;

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Skeletal syndromes associated with arachnodactyly.

1960: JGParish;

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A GENETICAL VIEW OF CARDIOVASCULAR DISEASE. THE LEWIS A. CONNER MEMORIAL LECTURE.

1964: VAMcKusick;

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The heart in arachnodactyly.

1950: GReynolds;

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AN ETIOLOGIC CONCEPT CONCERNING THE OBSCURE MYOCARDIOPATHIES.

1964: TNJames;

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Increased excretion of hydroxyproline in Marfan's syndrome.

1958: JDDavidson; CMitoma; ASjoerdsma; SUdenfriend;

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PULMONARY EMPHYSEMA AND OTHER CARDIORESPIRATORY LESIONS AS PART OF THE MARFAN ABIOTROPHY.

1964: RPBolande; ASTucker;

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A case of Marfan's syndrome with bilateral glaucoma. With description of a new type of operation for developmental glaucoma (trabeculotomy ab externo).

1960: HMBurian;

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AORTIC INSUFFICIENCY SECONDARY TO ANEURYSMAL CHANGES IN THE ASCENDING AORTA: SURGICAL MANAGEMENT.

1964: DBEffler; LKGroves; KGulati; WAHawk;

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Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature.

2009: OBoute; BLCallewaert; PJCoucke; JDe Backer; AMDe Paepe; AFiccadenti; NFoulds; OGabrielli; ... FGalán; HKingston; HYKroes; MLandgren; BLLoeys; MPope; ISalcedo; MESwinkels; NVan der Aa; SVermeer; CWallgren-Pettersson; YYaron;

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KERATOSIS PALMO-PLANTARIS CONGENITA, WITH PERIODONTOSIS, ARACHNODACTYLY AND A PECULIAR DEFORMITY OF THE TERMINAL PHALANGES.

1965: SHaim; JMunk;

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Ruptured aortic cusp associated with an heritable disorder of connective tissue.

1962: JFrieden; ESHurwitt; ELEADER;

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The Marfan syndrome: report of one case with autopsy, special histological study, and review of the literature.

1959: JWROARK;

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THE METACARPAL INDEX. A USEFUL AID IN THE DIAGNOSIS OF THE MARFAN SYNDROME.

1964: REldridge;

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Aneurysmal dilatation of aortic sinuses in arachnodactyly: diagnosis during life in three cases.

1955: WGeller; ISteinberg;

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