Eur J Med Genet

A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

Gudmundsson S, Annerén G, Marcos-Alcalde Í, ..., Gómez-Puertas P, Bondeson ML

Eur J Med Genet 62 (6) 103526 [2019-06-00; online 2018-08-17]

A maternal de novo non-reciprocal translocation results in a 6q13-q16 deletion in one offspring and a 6q13-q16 duplication in another.

Wentzel C, Annerén G, Thuresson AC

Eur J Med Genet 57 (6) 259-263 [2014-03-12; online 2014-03-12]

Novel candidate genes for 46,XY gonadal dysgenesis identified by a customized 1 M array-CGH platform.

Norling A, Lindén Hirschberg A, Iwarsson E, ..., Wedell A, Barbaro M

Eur J Med Genet 56 (12) 661-668 [2013-12-00; online 2013-09-18]

Cenani-Lenz syndrome restricted to limb and kidney anomalies associated with a novel LRP4 missense mutation.

Khan TN, Klar J, Ali Z, ..., Baig SM, Dahl N

Eur J Med Genet 56 (7) 371-374 [2013-07-00; online 2013-05-07]

A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features.

Boudry-Labis E, Demeer B, Le Caignec C, ..., Love DR, Andrieux J

Eur J Med Genet 56 (3) 163-170 [2013-03-00; online 2012-12-29]

De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.

Becker K, Di Donato N, Holder-Espinasse M, ..., Jønch AE, Hackmann K

Eur J Med Genet 55 (8-9) 490-497 [2012-04-12; online 2012-04-12]