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Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
Mefford HC,
Sharp AJ,
Baker C,
Itsara A,
Jiang Z,
Buysse K,
Huang S,
Maloney VK,
Crolla JA,
Baralle D,
Collins A,
Mercer C,
Norga K,
de Ravel T,
Devriendt K,
Bongers EM,
de Leeuw N,
Reardon W,
Gimelli S,
Bena F,
Hennekam RC,
Male A,
Gaunt L,
Clayton-Smith J,
Simonic I,
Park SM,
Mehta SG,
Nik-Zainal S,
Woods CG,
Firth HV,
Parkin G,
Fichera M,
Reitano S,
Lo Giudice M,
Li KE,
Casuga I,
Broomer A,
Conrad B,
Schwerzmann M,
Raber L,
Gallati S,
Striano P,
Coppola A,
Tolmie JL,
Tobias ES,
Lilley C,
Armengol L,
Spysschaert Y,
Verloo P,
De Coene A,
Goossens L,
Mortier G,
Speleman F,
van Binsbergen E,
Nelen MR,
Hochstenbach R,
Poot M,
Gallagher L,
Gill M,
McClellan J,
King MC,
Regan R,
Skinner C,
Stevenson RE,
Antonarakis SE,
Chen C,
Estivill X,
Menten B,
Gimelli G,
Gribble S,
Schwartz S,
Sutcliffe JS,
Walsh T,
Knight SJ,
Sebat J,
Romano C,
Schwartz CE,
Veltman JA,
de Vries BB,
Vermeesch JR,
Barber JC,
Willatt L,
Tassabehji M,
Eichler EE

N Engl J Med
  359 (16): 1685-99; Oct 16 2008   PMCID: PMC2703742
[Abstract]
[DOI] [Full Text] [PDF]


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