Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis

By Barbieri Anna   Filopanti Marcello   Bua Guido   Beck-Peccoz Paolo  

Journal of Human Genetics, Vol. 52, Iss. 5, 2007-05 ,pp. : 464-468

Springer Publishing Company

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Truncating mutations in FOXC2 cause multiple lymphedema syndromes

By Finegold D.N.  

Human Molecular Genetics, Vol. 10, Iss. 11, 2001-05 ,pp. : 1185-1189

Oxford University Press

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Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations

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Molecular Syndromology, Vol. 4, Iss. 3, 2012-10 ,pp. : 107-113

Karger

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SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway

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Human Molecular Genetics, Vol. 18, Iss. 12, 2009-06 ,pp. : 2257-2265

Oxford University Press

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Association of NTRK3 and its interaction with NGF suggest an altered cross-regulation of the neurotrophin signaling pathway in eating disorders

By Mercader Josep Maria   Saus Ester   Agera Zaida   Bays Mnica   Boni Claudette   Carreras Anna   Cellini Elena   de Cid Rafael   Dierssen Mara   Escarams Gergia   Fernndez-Aranda Fernando   Forcano Laura   Gallego Xavier   Gonzlez Juan Ramn   Gorwood Philip   Hebebrand Johannes   Hinney Anke   Nacmias Benedetta   Puig Anna   Ribass Marta   Ricca Valdo   Romo Lucia   Sorbi Sandro   Versini Audrey   Gratacs Mnica   Estivill Xavier  

Human Molecular Genetics, Vol. 17, Iss. 9, 2008-05 ,pp. : 1234-1244

Oxford University Press

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