Integrative genomics reveals frequent somatic NF1 mutations in sporadic pheochromocytomas

By Welander Jenny   Larsson Catharina   Bäckdahl Martin   Hareni Niyaz   Sivlér Tobias   Brauckhoff Michael   Söderkvist Peter   Gimm Oliver  

Human Molecular Genetics, Vol. 21, Iss. 26, 2012-12 ,pp. : 5406-5416

Oxford University Press

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Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis

By Akers Amy L.   Johnson Eric   Steinberg Gary K.   Zabramski Joseph M.   Marchuk Douglas A.  

Human Molecular Genetics, Vol. 18, Iss. 5, 2009-03 ,pp. : 919-930

Oxford University Press

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Holoprosencephaly due to mutations in ZIC2 : alanine tract expansion mutations may be caused by parental somatic recombination

By Sommer A.  

Human Molecular Genetics, Vol. 10, Iss. 8, 2001-04 ,pp. : 791-796

Oxford University Press

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Mutations in the Ca 2+ -Sensing Receptor Gene Cause Autosomal Dominant and Sporadic Hypoparathyroidism

By Baron Jeffrey   Winer Karen K.   Yanovski Jack A.   Cunningham Adrienne W.   Laue Louisa   Zimmerman Donald   Cutler Gordon B.  

Human Molecular Genetics, Vol. 5, Iss. 5, 1996-01 ,pp. : 601-606

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Novel Mutations Detected in the TSC2 Hene From Both Sporadic and Familial TSC Patients

By Wilson Peter J.   Ramesh Vijaya   Kristiansen Arthur   Bove Catherine   Jozwiak Serguisy   Kwiatkowski David J.   Short M. Priscilla   Haines Jonathan L.  

Human Molecular Genetics, Vol. 5, Iss. 2, 1996-01 ,pp. : 249-256

Oxford University Press

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