Works matching IS 14712350 AND DT 2017 AND VI 18 AND IP 1

Results: 9

Relationship of genetic causes and inhibin B in non obstructive azoospermia spermatogenic failure.

Published in:

BMC Medical Genetics, 2017, v. 18, n. 1, p. 1, doi. 10.1186/s12881-017-0456-x

By:

Chu, Qing-jun;
Hua, Rui;
Luo, Chen;
Chen, Qing-jie;
Wu, Biao;
Quan, Song;
Zhu, Yong-tong

Publication type:

Article

Association between fat mass and obesity associated (FTO) gene rs9939609 A/T polymorphism and polycystic ovary syndrome: a systematic review and meta-analysis.

Published in:

BMC Medical Genetics, 2017, v. 18, n. 1, p. 1, doi. 10.1186/s12881-017-0452-1

By:

Liu, Ai;
Xie, Hui;
Xie, Hong;
Liu, Jun;
Yin, Jie;
Hu, Jin;
Peng, Cui

Publication type:

Article

Genome-wide association and targeted analysis of copy number variants with psoriatic arthritis in German patients.

Published in:

BMC Medical Genetics, 2017, v. 18, n. 1, p. 1, doi. 10.1186/s12881-017-0447-y

By:

Uebe, Steffen;
Ehrlicher, Maria;
Ekici, Arif Bülent;
Behrens, Frank;
Böhm, Beate;
Homuth, Georg;
Schurmann, Claudia;
Völker, Uwe;
Jünger, Michael;
Nauck, Matthias;
Völzke, Henry;
Traupe, Heiko;
Krawczak, Michael;
Burkhardt, Harald;
Reis, André;
Hüffmeier, Ulrike

Publication type:

Article

Allelic variants in vitamin D receptor gene are associated with adiposity measures in the central-European population.

Published in:

BMC Medical Genetics, 2017, v. 18, n. 1, p. 1, doi. 10.1186/s12881-017-0454-z

By:

Bienertová-Vaků, Julie;
Zlámal, Filip;
Pohořalá, Aneta;
Mike, Ondřej;
Goldbergová-Pávková, Monika;
Novák, Jan;
plíchal, Zbyněk;
Pikhart, Hynek

Publication type:

Article

A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome.

Published in:

BMC Medical Genetics, 2017, v. 18, n. 1, p. 1, doi. 10.1186/s12881-017-0453-0

By:

Kui Chen;
Ke Yang;
Su-Shan Luo;
Chen Chen;
Ying Wang;
Yi-Xuan Wang;
Da-Ke Li;
Yu-Jie Yang;
Yi-Lin Tang;
Feng-Tao Liu;
Jian Wang;
Jian-Jun Wu;
Yi-Min Sun

Publication type:

Article

Gene expression profiling of idiopathic interstitial pneumonias (IIPs): identification of potential diagnostic markers and therapeutic targets.

Published in:

BMC Medical Genetics, 2017, v. 18, n. 1, p. 1, doi. 10.1186/s12881-017-0449-9

By:

Horimasu, Yasushi;
Ishikawa, Nobuhisa;
Taniwaki, Masaya;
Yamaguchi, Kakuhiro;
Hamai, Kosuke;
Iwamoto, Hiroshi;
Ohshimo, Shinichiro;
Hamada, Hironobu;
Hattori, Noboru;
Okada, Morihito;
Arihiro, Koji;
Ohtsuki, Yuji;
Kohno, Nobuoki

Publication type:

Article

Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports.

Published in:

BMC Medical Genetics, 2017, v. 18, n. 1, p. 1, doi. 10.1186/s12881-017-0439-y

By:

Dastsooz, Hassan;
Nemati, Hamid;
Fard, Mohammad;
Fardaei, Majid;
Faghihi, Mohammad

Publication type:

Article

Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2.

Published in:

BMC Medical Genetics, 2017, v. 18, n. 1, p. 1, doi. 10.1186/s12881-017-0442-3

By:

Qadri, Sami;
Anttonen, Olli;
Viikilä, Juho;
Seppälä, Eija H.;
Myllykangas, Samuel;
Alastalo, Tero-Pekka;
Holmström, Miia;
Heliö, Tiina;
Koskenvuo, Juha W.

Publication type:

Article

Monoallelic characteristic-bearing heterozygous L1053X in BRCA2 gene among Sudanese women with breast cancer.

Published in:

BMC Medical Genetics, 2017, v. 18, n. 1, p. 1, doi. 10.1186/s12881-017-0448-x

By:

Elimam, Alsmawal;
Aabdein, Mohamed;
Eldeen, Mohamed;
Altayb, Hisham;
Taha, Mohamed;
Nimir, Mohammed;
Dafaalla, Mohamed;
Alfaki, Musaab;
Abdelrahim, Mohamed;
Abdalla, Abdelmohaymin;
Mohammed, Musab;
Ellaithi, Mona;
Hamid, Muzamil;
Hassan, Mohamed

Publication type:

Article