Aktuell

Publikationen unter Beteiligung des MGZ im Juni

…die aktuellen Themen:

Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient.
Ikenberg E, Karin I, Ertl-Wagner B, Abicht A, Bulst S, Sabine K, Schoser B, Reilich P, Walter MC.
Neuromuscul Disord. 2017 Jun 1. pii: S0960-8966(17)30046-9.

Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.
Dominguez-Valentin M, Nakken S, Tubeuf H, Vodak D, Ekstrøm PO, Nissen AM, Morak M, Holinski-Feder E, Martins A, Møller P, Hovig E.
Fam Cancer. 2017 Jun 12.

Elucidating the molecular basis of msh2-deficient tumors by combined germline and somatic analysis.
Vargas-Parra GM, González-Acosta M, Thompson BA, Gómez C, Fernández A, Dámaso E, Pons T, Morak M, Del Valle J, Iglesias S, Velasco À, Solanes A, Sanjuan X, Padilla N, de la Cruz X, Valencia A, Holinski-Feder E, Brunet J, Feliubadaló L, Lázaro C, Navarro M, Pineda M, Capellá G.
Int J Cancer. 2017 Jun 2.

Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I.
Braunisch MC, Gallwitz H, Abicht A, Diebold I, Holinski-Feder E, Van Maldergem L, Lammens M, Kovács-Nagy R, Alhaddad B, Strom TM, Meitinger T, Senderek J, Rudnik-Schöneborn S, Haack TB.
Clin Genet. 2017 Jun 27.

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