Publications:

Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly.

Molecular Genetics & Genomic Medicine

Kaymakcalan, Hande H; Kaya, İlyas İ; Cevher Binici, Nagihan N; Nikerel, Emrah E; Özbaran, Burcu B; Görkem Aksoy, Mehmet M; Erbilgin, Seda S; Özyurt, Gonca G; Jahan, Noor N; Çelik, Didem D; Yararbaş, Kanay K; Yalçınkaya, Leyla L; Köse, Sezen S; Durak, Sibel S; Ercan-Sencicek, Adife Gulhan AG

Publication Date: 2021-08

Variant appearance in text: PTEN: S207R

PubMed Link: 34268892

Variant Present in the following documents:

• Main text
• MGG3-9-e1739.pdf

View BVdb publication page

Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly.

Molecular Genetics & Genomic Medicine

Kaymakcalan, Hande H; Kaya, İlyas İ; Cevher Binici, Nagihan N; Nikerel, Emrah E; Özbaran, Burcu B; Görkem Aksoy, Mehmet M; Erbilgin, Seda S; Özyurt, Gonca G; Jahan, Noor N; Çelik, Didem D; Yararbaş, Kanay K; Yalçınkaya, Leyla L; Köse, Sezen S; Durak, Sibel S; Ercan-Sencicek, Adife Gulhan AG

Publication Date: 2021-08

Variant appearance in text: PTEN: S207R

PubMed Link: 34268892

Variant Present in the following documents:

• Main text
• MGG3-9-e1739.pdf

View BVdb publication page

ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma.

Nature Communications

Rashid, Mamunur M; van der Horst, Michiel M; Mentzel, Thomas T; Butera, Francesca F; Ferreira, Ingrid I; Pance, Alena A; Rütten, Arno A; Luzar, Bostjan B; Marusic, Zlatko Z; de Saint Aubain, Nicolas N; Ko, Jennifer S JS; Billings, Steven D SD; Chen, Sofia S; Abi Daoud, Marie M; Hewinson, James J; Louzada, Sandra S; Harms, Paul W PW; Cerretelli, Guia G; Robles-Espinoza, Carla Daniela CD; Patel, Rajiv M RM; van der Weyden, Louise L; Bakal, Chris C; Hornick, Jason L JL; Arends, Mark J MJ; Brenn, Thomas T; Adams, David J DJ

Publication Date: 2019-05-17

Variant appearance in text: PTEN: S207R

PubMed Link: 31101826

Variant Present in the following documents:

• Main text
• 41467_2019_Article_9979.pdf
• 41467_2019_9979_MOESM2_ESM.pdf

View BVdb publication page