Large genomic deletions in AIP in pituitary adenoma predisposition

Georgitsi, Marianthi; Heliovaara, Elina; Paschke, Ralf; Kumar, Ajith; Tischkowitz, Marc; Vierimaa, Outi; Salmela, Pasi; Sane, Timo; De Menis, Ernesto; Cannavo, Salvatore; Guendogdu, Sadi; Lucassen, Anneke; Izatt, Louise; Aylwin, Simon; Bano, Gul; Hodgson, Shirley; Koch, Christian; Karhu, Auli; Aaltonen, Lauri

doi:10.1210/jc.2008-1003

Large genomic deletions in AIP in pituitary adenoma predisposition

Georgitsi M., Heliovaara E., Paschke R., Kumar A. V. K., Tischkowitz M., Vierimaa O., ...Daha Fazla

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, cilt.93, sa.10, ss.4146-4151, 2008 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 93 Sayı: 10
Basım Tarihi: 2008
Doi Numarası: 10.1210/jc.2008-1003
Dergi Adı: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.4146-4151
İstanbul Üniversitesi Adresli: Evet

Özet

Context: Germline mutations in AIP have been recently shown to cause pituitary adenoma predisposition (PAP). Subsequently, many intragenic germline mutations have been reported, both in familial and in sporadic settings.