Works matching IS 14712350 AND DT 2017 AND VI 18

Results: 152

Effect of a rare genetic variant of TM7SF4 gene on osteoclasts of patients with Paget's disease of bone.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0495-3

By:

Laurier, Emilie;
Amiable, Nathalie;
Gagnon, Edith;
Brown, Jacques P.;
Michou, Laëtitia

Publication type:

Article

An intronic single-nucleotide polymorphism (rs13217795) in FOXO3 is associated with asthma and allergic rhinitis: a case-case-control study.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0494-4

By:

Amarin, Justin Z.;
Naffa, Randa G.;
Suradi, Haya H.;
Alsaket, Yousof M.;
Obeidat, Nathir M.;
Mahafza, Tareq M.;
Zihlif, Malek A.

Publication type:

Article

Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0486-4

By:

Xiaoyan Li;
Hua Xie;
Qian Chen;
Xiongying Yu;
Zhaoshi Yi;
Erzhen Li;
Ting Zhang;
Jian Wang;
Jianmin Zhong;
Xiaoli Chen

Publication type:

Article

Sanger sequencing in exonic regions of STK11 gene uncovers a novel de-novo germline mutation (c.962_963delCC) associated with Peutz-Jeghers syndrome and elevated cancer risk: case report of a Chinese patient.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0471-y

By:

Zi-Ye Zhao;
Yu-Liang Jiang;
Bai-Rong Li;
Fu Yang;
Jing Li;
Xiao-Wei Jin;
Shou-Bin Ning;
Shu-Han Sun

Publication type:

Article

COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA.

Published in:

2017

By:

Jensson, Brynjar O.;
Hansdottir, Sif;
Arnadottir, Gudny A.;
Sulem, Gerald;
Kristjansson, Ragnar P.;
Oddsson, Asmundur;
Benonisdottir, Stefania;
Jonsson, Hakon;
Helgason, Agnar;
Saemundsdottir, Jona;
Magnusson, Olafur T.;
Masson, Gisli;
Thorisson, Gudmundur A.;
Jonasdottir, Adalbjorg;
Jonasdottir, Aslaug;
Sigurdsson, Asgeir;
Jonsdottir, Ingileif;
Petursdottir, Vigdis;
Kristinsson, Jon R.;
Gudbjartsson, Daniel F.

Publication type:

Case Study

The three CYBA variants (rs4673, rs1049254 and rs1049255) are benign: new evidence from a patient with CGD.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0492-6

By:

Jinqiao Sun;
Min Wen;
Ying Wang;
Danru Liu;
Wenjing Ying;
Xiaochuan Wang

Publication type:

Article

Association of NOS3 gene polymorphisms with essential hypertension in Sudanese patients: a case control study.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0491-7

By:

Gamil, Sahar;
Erdmann, Jeanette;
Abdalrahman, Ihab B.;
Mohamed, Abdelrahim O.

Publication type:

Article

A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0488-2

By:

Yuchan Li;
Jian Wang;
Zhigang Wang;
Jingyan Tang;
Tingting Yu

Publication type:

Article

Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0483-7

By:

Noronha Liberalesso, Paulo Breno;
Cordeiro, Mara L.;
Vieira Karuta, Simone Carreiro;
Jordão Koladicz, Karyn Regina;
Nitsche, Anderson;
Zeigelboim, Bianca Simone;
Raskin, Salmo;
Rauchman, Michael

Publication type:

Article

Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0481-9

By:

Thiffault, Isabelle;
Zuccarelli, Britton;
Welsh, Holly;
Xuan Yuan;
Farrow, Emily;
Zellmer, Lee;
Miller, Neil;
Soden, Sarah;
Abdelmoity, Ahmed;
Brodsky, Robert A.;
Saunders, Carol

Publication type:

Article

No association between the progesterone receptor gene polymorphism (+331G/a) and the risk of breast cancer: an updated meta-analysis.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0487-3

By:

Xing-ling Qi;
Jun Yao;
Yong Zhang

Publication type:

Article

The RS4939827 polymorphism in the SMAD7 GENE and its association with Mediterranean diet in colorectal carcinogenesis.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0485-5

By:

Alonso-Molero, Jéssica;
González-Donquiles, Carmen;
Palazuelos, Camilo;
Fernández-Villa, Tania;
Ramos, Elena;
Pollán, Marina;
Aragonés, Nuria;
Llorca, Javier;
Alonso, M. Henar;
Tardón, Adonina;
Amiano, Pilar;
Jiménez Moleon, José Juan;
Pérez, Rosana Peiró;
Capelo, Rocío;
Molina, Antonio J.;
Acebo, Inés Gómez;
Guevara, Marcela;
Gómez, Beatriz Pérez;
Lope, Virginia;
Huerta, José María

Publication type:

Article

HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report.

Published in:

2017

By:

Aram Yang;
Jinsup Kim;
Chang-Seok Ki;
Sung Hwa Hong;
Sung Yoon Cho;
Dong-Kyu Jin

Publication type:

Case Study

Lack of associations of the opioid receptor mu 1 (OPRM1) A118G polymorphism (rs1799971) with alcohol dependence: review and meta-analysis of retrospective controlled studies.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0478-4

By:

Xiangyi Kong;
Hao Deng;
Shun Gong;
Alston, Theodore;
Yanguo Kong;
Jingping Wang

Publication type:

Article

17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a case report.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0479-3

By:

Wessel, Karen;
Suleiman, Jehan;
Khalaf, Tamam E.;
Kishore, Shivendra;
Rolfs, Arndt;
El-Hattab, Ayman W.

Publication type:

Article

De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report.

Published in:

2017

By:

Al Dhaibani, Muna A.;
Allingham-Hawkins, Diane;
El-Hattab, Ayman W.

Publication type:

Case Study

Sustained endocrine profiles of a girl with WAGR syndrome.

Published in:

2017

By:

Yui Takada;
Yasunari Sakai;
Yuki Matsushita;
Kazuhiro Ohkubo;
Yuhki Koga;
Satoshi Akamine;
Michiko Torio;
Yoshito Ishizaki;
Masafumi Sanefuji;
Hiroyuki Torisu;
Shaw, Chad A.;
Masayo Kagami;
Toshiro Hara;
Shouichi Ohga

Publication type:

Case Study

Non-syndromic cardiac progeria in a patient with the rare pathogenic p.Asp300Asn variant in the LMNA gene.

Published in:

2017

By:

Marian, Ali J.

Publication type:

Case Study

Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0470-z

By:

Bedeschi, Maria Francesca;
Calvello, Mariarosaria;
Paganini, Leda;
Pezzani, Lidia;
Baccarin, Marco;
Fontana, Laura;
Sirchia, Silvia M.;
Guerneri, Silvana;
Canazza, Lorena;
Leva, Ernesto;
Colombo, Lorenzo;
Lalatta, Faustina;
Mosca, Fabio;
Tabano, Silvia;
Miozzo, Monica

Publication type:

Article

"Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports".

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0474-8

By:

Uysal, Fahrettin;
Turkgenc, Burcu;
Toksoy, Guven;
Bostan, Ozlem M.;
Evke, Elif;
Uyguner, Oya;
Yakicier, Cengiz;
Kayserili, Hulya;
Cil, Ergun;
Temel, Sehime G.

Publication type:

Article

Relationship between interpersonal sensitivity and leukocyte telomere length.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0473-9

By:

Akihito Suzuki;
Yoshihiko Matsumoto;
Masanori Enokido;
Toshinori Shirata;
Kaoru Goto;
Koichi Otani

Publication type:

Article

Characterization of a novel KCNJ2 sequence variant detected in Andersen-Tawil syndrome patients.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0472-x

By:

Scheiper, Stefanie;
Hertel, Brigitte;
Beckmann, Britt-Maria;
Kääb, Stefan;
Thiel, Gerhard;
Kauferstein, Silke

Publication type:

Article

A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literature.

Published in:

2017

By:

Zhiliang Yang;
Guilian Sun;
Fang Yao;
Dongying Tao;
Binlu Zhu

Publication type:

Case Study

Gender differences in the prevalence of congenital heart disease in Down's syndrome: a brief meta-analysis.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0475-7

By:

Diogenes, Tereza Cristina Pinheiro;
Mourato, Felipe Alves;
de Lima Filho, José Luiz;
da Silva Mattos, Sandra

Publication type:

Article

Pilot study indicate role of preferentially transmitted monoamine oxidase gene variants in behavioral problems of male ADHD probands.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0469-5

By:

Karmakar, Arijit;
Goswami, Rishov;
Saha, Tanusree;
Maitra, Subhamita;
Roychowdhury, Anirban;
Panda, Chinmay Kumar;
Sinha, Swagata;
Ray, Anirban;
Mohanakumar, Kochupurackal P.;
Rajamma, Usha;
Mukhopadhyay, Kanchan

Publication type:

Article

Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0467-7

By:

Ning Liu;
Qiuying Huang;
Qingge Li;
Dehua Zhao;
Xiaole Li;
Lixia Cui;
Ying Bai;
Yin Feng;
Xiangdong Kong

Publication type:

Article

Analysis of SNP-SNP interactions and bone quantitative ultrasound parameter in early adulthood.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0468-6

By:

Correa-Rodríguez, María;
Viatte, Sebastien;
Massey, Jonathan;
Schmidt-RioValle, Jacqueline;
Rueda-Medina, Blanca;
Orozco, Gisela

Publication type:

Article

Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.

Published in:

2017

By:

Arnadottir, Gudny A.;
Jensson, Brynjar O.;
Marelsson, Sigurdur E.;
Sulem, Gerald;
Oddsson, Asmundur;
Kristjansson, Ragnar P.;
Benonisdottir, Stefania;
Gudjonsson, Sigurjon A.;
Masson, Gisli;
Thorisson, Gudmundur A.;
Saemundsdottir, Jona;
Magnusson, Olafur Th.;
Jonasdottir, Adalbjorg;
Jonasdottir, Aslaug;
Sigurdsson, Asgeir;
Gudbjartsson, Daniel F.;
Thorsteinsdottir, Unnur;
Arngrimsson, Reynir;
Sulem, Patrick;
Stefansson, Kari

Publication type:

Case Study

Genetic analysis of parathyroid and pancreatic tumors in a patient with multiple endocrine neoplasia type 1 using whole-exome sequencing.

Published in:

2017

By:

Bo-Young Kim;
Mi-Hyun Park;
Hae-Mi Woo;
Hye-Yeong Jo;
Ji Hoon Kim;
Hyung Jin Choi;
Soo Kyung Koo

Publication type:

Case Study

Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0463-y

By:

Bánfai, Zsolt;
Hadzsiev, Kinga;
Pál, Endre;
Komlósi, Katalin;
Melegh, Márton;
Balikó, László;
Melegh, Béla

Publication type:

Article

SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0460-1

By:

Jiaping Wang;
Hua Gao;
Xinhua Bao;
Qingping Zhang;
Jiarui Li;
Liping Wei;
Xiru Wu;
Yan Chen;
Shujie Yu

Publication type:

Article

Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0464-x

By:

Pongsathorn Chaiyasap;
Chupong Ittiwut;
Chalurmpon Srichomthong;
Apiruk Sangsin;
Kanya Suphapeetiporn;
Vorasuk Shotelersuk

Publication type:

Article

The (FTO) gene polymorphism is associated with metabolic syndrome risk in Egyptian females: a case- control study.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0461-0

By:

Khella, Mina S.;
Hamdy, Nadia M.;
Amin, Ashraf I.;
El-Mesallamy, Hala O.

Publication type:

Article

Renin-angiotensin system gene polymorphisms and high blood pressure in Lithuanian children and adolescents.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0462-z

By:

Simonyte, Sandrita;
Kuciene, Renata;
Medzioniene, Jurate;
Dulskiene, Virginija;
Lesauskaite, Vaiva

Publication type:

Article

Erratum to: Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family.

Published in:: 2017
Publication type:: Correction Notice

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

Living kidney transplantation between brothers with unrecognized renal amyloidosis as the first manifestation of familial Mediterranean fever: a case report.

Published in:

2017

By:

Peces, Ramón;
Afonso, Sara;
Peces, Carlos;
Nevado, Julián;
Selgas, Rafael

Publication type:

Case Study

Vitamin D receptor gene polymorphisms in association with diabetic nephropathy: a systematic review and meta-analysis.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0458-8

By:

Lina Yang;
Lan Wu;
Yi Fan;
Jianfei Ma

Publication type:

Article

Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0455-y

By:

Qingping Zhang;
Jiaping Wang;
Jiarui Li;
Xinhua Bao;
Ying Zhao;
Xiaoying Zhang;
Liping Wei;
Xiru Wu

Publication type:

Article

Performance of risk prediction for inflammatory bowel disease based on genotyping platform and genomic risk score method.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0451-2

By:

Guo-Bo Chen;
Sang Hong Lee;
Montgomery, Grant W.;
Wray, Naomi R.;
Visscher, Peter M.;
Gearry, Richard B.;
Lawrance, Ian C.;
Andrews, Jane M.;
Bampton, Peter;
Mahy, Gillian;
Bell, Sally;
Walsh, Alissa;
Connor, Susan;
Sparrow, Miles;
Bowdler, Lisa M.;
Simms, Lisa A.;
Krishnaprasad, Krupa;
Radford-Smith, Graham L.;
Moser, Gerhard

Publication type:

Article

An Aγ-globin G->A gene polymorphism associated with β<sup>0</sup>39 thalassemia globin gene and high fetal hemoglobin production.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0450-3

By:

Breveglieri, Giulia;
Bianchi, Nicoletta;
Cosenza, Lucia Carmela;
Gamberini, Maria Rita;
Chiavilli, Francesco;
Zuccato, Cristina;
Montagner, Giulia;
Borgatti, Monica;
Lampronti, Ilaria;
Finotti, Alessia;
Gambari, Roberto

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

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, p. 1, doi. 10.1186/s12881-017-0454-z

By:

Bienertová-Vašků, Julie;
Zlámal, Filip;
Pohořalá, Aneta;
Mikeš, Ondřej;
Goldbergová-Pávková, Monika;
Novák, Jan;
Šplíchal, Zbyněk;
Pikhart, Hynek

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

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