Works matching IS 14712350 AND DT 2017 AND VI 18

Results: 152

Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report.

Published in:

2017

By:

Hye Ji Choi;
Joon Suk Lee;
Seyoung Yu;
Do Hyeon Cha;
Heon Yung Gee;
Jae Young Choi;
Jong Dae Lee;
Jinsei Jung

Publication type:

Case Study

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

Published in:: 2017
Publication type:: Correction Notice

Delayed-onset of progressive pseudorheumatoid dysplasia in a Chinese adult with a novel compound WISP3 mutation: a case report.

Published in:

2017

By:

Qiongyi Hu;
Jing Liu;
Yi Wang;
Jiucun Wang;
Hui Shi;
Yue Sun;
Xinyao Wu;
Chengde Yang;
Jialin Teng

Publication type:

Case Study

A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0508-2

By:

Cattaneo, Monica;
La Sala, Lucia;
Rondinelli, Maurizio;
Errichiello, Edoardo;
Zuffardi, Orsetta;
Puca, Annibale Alessandro;
Genovese, Stefano;
Ceriello, Antonio

Publication type:

Article

Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0506-4

By:

Ajmal, Muhammad;
Mir, Asif;
Wahid, Sughra;
Chiea Chuen Khor;
Jia Nee Foo;
Siddiqi, Saima;
Kauser, Mehran;
Malik, Salman Akbar;
Nasir, Muhammad

Publication type:

Article

The gene--treatment interaction of paraoxonase-1 gene polymorphism and statin therapy on insulin secretion in Japanese patients with type 2 diabetes: Fukuoka diabetes registry.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0509-1

By:

Akiko Sumi;
Udai Nakamura;
Masanori Iwase;
Hiroki Fujii;
Toshiaki Ohkuma;
Hitoshi Ide;
Tamaki Jodai-Kitamura;
Yuji Komorita;
Masahito Yoshinari;
Yoichiro Hirakawa;
Atsushi Hirano;
Michiaki Kubo;
Takanari Kitazono

Publication type:

Article

Exploring digenic inheritance in arrhythmogenic cardiomyopathy.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0503-7

By:

König, Eva;
Volpato, Claudia Béu;
Motta, Benedetta Maria;
Blankenburg, Hagen;
Picard, Anne;
Pramstaller, Peter;
Casella, Michela;
Rauhe, Werner;
Pompilio, Giulio;
Meraviglia, Viviana;
Domingues, Francisco S.;
Sommariva, Elena;
Rossini, Alessandra

Publication type:

Article

Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0504-6

By:

Ali, Zafar;
Zulfiqar, Shumaila;
Klar, Joakim;
Wikström, Johan;
Ullah, Farid;
Khan, Ayaz;
Abdullah, Uzma;
Baig, Shahid;
Dahl, Niklas

Publication type:

Article

ACTA2 mutation and postpartum hemorrhage: a case report.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0505-5

By:

Cooper, Kylie;
Brown, Stephen

Publication type:

Article

Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0499-z

By:

Pollak, Agnieszka;
Lechowicz, Urszula;
Murcia Pieńkowski, Victor Abel;
Stawiński, Piotr;
Kosińska, Joanna;
Skarżyński, Henryk;
Ołdak, Monika;
Płoski, Rafał

Publication type:

Article

Severe congenital microcephaly with 16p13.11 microdeletion combined with NDE1 mutation, a case report and literature review.

Published in:

2017

By:

Li Tan;
Bo Bi;
Peiwei Zhao;
Xiaonan Cai;
Chunhui Wan;
Jianbo Shao;
Xuelian He

Publication type:

Case Study

A new panel of SNPs to assess thyroid carcinoma risk: a pilot study in a Brazilian admixture population.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0502-8

By:

dos Santos, Isabelle C. C.;
Genre, Julieta;
Marques, Diego;
da Silva, Ananília M. G.;
dos Santos, Jéssica C.;
de Araújo, Jéssica N. G.;
Duarte, Victor H. R.;
Carracedo, Angel;
Torres-Español, Maria;
Bastos, Gisele;
de Oliveira Ramos, Carlos C.;
Luchessi, André D.;
Silbiger, Vivian N.

Publication type:

Article

Prevalence, genetic variants and clinical implications of G-6-PD deficiency in Burkina Faso: a systematic review.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0496-2

By:

Ouattara, Abdoul Karim;
Yameogo, Pouiré;
Traore, Lassina;
Diarra, Birama;
Assih, Maléki;
Compaore, Tegwindé Rébéca;
Obiri-yeboah, Dorcas;
Soubeiga, Serge Théophile;
Djigma, Florencia Wendkuuni;
Simpore, Jacques

Publication type:

Article

Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0500-x

By:

Aguilera, Cinthia;
Viñas-Jornet, Marina;
Baena, Neus;
Gabau, Elisabeth;
Fernández, Concepción;
Capdevila, Nuria;
Cirkovic, Sanja;
Sarajlija, Adrijan;
Miskovic, Marijana;
Radivojevic, Danijela;
Ruiz, Anna;
Guitart, Miriam

Publication type:

Article

Breast cancer protection by genomic imprinting in close kin families.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0498-0

By:

Denic, Srdjan;
Agarwal, Mukesh M.

Publication type:

Article

Association of common genetic variants related to atrial fibrillation and the risk of ventricular fibrillation in the setting of first ST-elevation myocardial infarction.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0497-1

By:

Jabbari, Reza;
Jabbari, Javad;
Glinge, Charlotte;
Risgaard, Bjarke;
Sattler, Stefan;
Winkel, Bo Gregers;
Terkelsen, Christian Juhl;
Tilsted, Hans-Henrik;
Jensen, Lisette Okkels;
Hougaard, Mikkel;
Haunsø, Stig;
Engstrøm, Thomas;
Albert, Christine M.;
Tfelt-Hansen, Jacob

Publication type:

Article

Characterization of a novel splicing mutation in UNC13D gene through amplicon sequencing: a case report on HLH.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0489-1

By:

Dongling Liu;
Xijiang Hu;
Xiwen Jiang;
Bo Gao;
Cheng Wan;
Changying Chen

Publication type:

Article

First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0493-5

By:

Rejeb, Imen;
Jilani, Houweyda;
Elaribi, Yasmina;
Hizem, Syrine;
Hila, Lamia;
Zillahrdt, Julia Lauer;
Chelly, Jamel;
Benjemaa, Lamia

Publication type:

Article

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

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

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

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

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

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