Works matching IS 14712350 AND DT 2015 AND VI 16

Results: 151

Novel frame-shift mutation in PKP2 associated with arrhythmogenic right ventricular cardiomyopathy: a case report.

Published in:

2015

By:

Trenkwalder, Teresa;
Deisenhofer, Isabel;
Hadamitzky, Martin;
Schunkert, Heribert;
Reinhard, Wibke

Publication type:

Case Study

Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease.

Published in:

BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0261-3

By:

Obeidova, Lena;
Seeman, Tomas;
Elisakova, Veronika;
Reiterova, Jana;
Puchmajerova, Alena;
Stekrova, Jitka

Publication type:

Article

Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.

Published in:

BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0260-4

By:

Tjeldhorn, Lena;
Svanstrøm Amundsen, Silja;
Barøy, Tuva;
Rand-Hendriksen, Svend;
Geiran, Odd;
Frengen, Eirik;
Paus, Benedicte

Publication type:

Article

Physical activity, smoking, and genetic predisposition to obesity in people from Pakistan: the PROMIS study.

Published in:

BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0259-x

By:

Ahmad, Shafqat;
Wei Zhao;
Renström, Frida;
Rasheed, Asif;
Samuel, Maria;
Zaidi, Mozzam;
Shah, Nabi;
Mallick, Nadeem Hayyat;
Zaman, Khan Shah;
Ishaq, Mohammad;
Rasheed, Syed Zahed;
Memon, Fazal-ur-Rheman;
Hanif, Bashir;
Lakhani, Muhammad Shakir;
Ahmed, Faisal;
Kazmi, Shahana Urooj;
Frossard, Philippe;
Franks, Paul W.;
Saleheen, Danish

Publication type:

Article

Development and validation of a high throughput, closed tube method for the determination of haemoglobin alpha gene (HBA1 and HBA2) numbers by gene ratio assay copy enumeration-PCR (GRACE-PCR).

Published in:

BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0258-y

By:

Turner, Andrew;
Sasse, Jurgen;
Varadi, Aniko

Publication type:

Article

MECP2 duplication syndrome in a Chinese family.

Published in:

BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0264-0

By:

Qingping Zhang;
Ying Zhao;
Yanling Yang;
Xinhua Bao

Publication type:

Article

Placental DNA methylation at term reflects maternal serum levels of INHA and FN1, but not PAPPA, early in pregnancy.

Published in:

BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0257-z

By:

Wilson, Samantha L.;
Blair, John D.;
Hogg, Kirsten;
Langlois, Sylvie;
von Dadelszen, Peter;
Robinson, Wendy P.

Publication type:

Article

No association between the common calcium-sensing receptor polymorphism rs1801725 and irritable bowel syndrome.

Published in:

BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0256-0

By:

Romero, Philipp;
Schmitteckert, Stefanie;
Wouters, Mira M.;
Houghton, Lesley A.;
Czogalla, Bastian;
Sayuk, Gregory S.;
Boeckxstaens, Guy E.;
Guenther, Patrick;
Holland-Cunz, Stefan;
Niesler, Beate

Publication type:

Article

Frequency of the moyamoya-related RNF213 p.Arg4810Lys variant in 1,516 Korean individuals.

Published in:

BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0252-4

By:

Mi-Ae Jang;
Sue Shin;
Jong Hyun Yoon;
Chang-Seok Ki

Publication type:

Article

Expression analysis of the osteoarthritis genetic susceptibility locus mapping to an intron of the MCF2L gene and marked by the polymorphism rs11842874.

Published in:

BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0254-2

By:

Shepherd, Colin;
Skelton, Andrew J.;
Rushton, Michael D.;
Reynard, Louise N.;
Loughlin, John

Publication type:

Article

KRAS G12D mosaic mutation in a Chinese linear nevus sebaceous syndrome infant.

Published in:

BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0247-1

By:

Huijun Wang;
Yanyan Qian;
Bingbing Wu;
Ping Zhang;
Wenhao Zhou

Publication type:

Article

Genetic association analysis of miRNA SNPs implicates MIR145 in breast cancer susceptibility.

Published in:

BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0248-0

By:

Chacon-Cortes, Diego;
Smith, Robert A.;
Haupt, Larisa M.;
Lea, Rodney A.;
Youl, Philippa H.;
Griffiths, Lyn R.

Publication type:

Article

Validation of a high resolution NGS method for detecting spinal muscular atrophy carriers among phase 3 participants in the 1000 Genomes Project.

Published in:

BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0246-2

By:

Larson, Jessica L.;
Silver, Ari J.;
Chan, Dalin;
Borroto, Carlos;
Spurrier, Brett;
Silver, Lee M.

Publication type:

Article

A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations.

Published in:

BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0251-5

By:

Iype, Thomas;
Alakbarzade, Vafa;
Iype, Mary;
Singh, Royana;
Sreekantan-Nair, Ajith;
Chioza, Barry A.;
Mohapatra, Tribhuvan M.;
Baple, Emma L.;
Patton, Michael A.;
Warner, Thomas T.;
Proukakis, Christos;
Kulkarni, Abhi;
Crosby, Andrew H.

Publication type:

Article

Evolutionary context for the association of γ-globin, serum uric acid, and hypertension in African Americans.

Published in:

BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0249-z

By:

Shriner, Daniel;
Kumkhaek, Chutima;
Doumatey, Ayo P.;
Guanjie Chen;
Bentley, Amy R.;
Charles, Bashira A.;
Jie Zhou;
Adeyemo, Adebowale;
Rodgers, Griffin P.;
Rotimi, Charles N.

Publication type:

Article

Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities.

Published in:

BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0240-8

By:

Mroske, Cameron;
Rasmussen, Kristen;
Shinde, Deepali N.;
Huether, Robert;
Powis, Zoe;
Hsiao-Mei Lu;
Baxter, Ruth M.;
McPherson, Elizabeth;
Sha Tang

Publication type:

Article

Genetic contribution of SCARB1 variants to lipid traits in African Blacks: a candidate gene association study.

Published in:

BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0250-6

By:

Niemsiri, Vipavee;
Xingbin Wang;
Pirim, Dilek;
Radwan, Zaheda H.;
Bunker, Clareann H.;
Michael Barmada, M.;
Ilyas Kamboh, M.;
Yesim Demirci, F.

Publication type:

Article

Common variants in LEPR, IL6, AMD1, and NAMPT do not associate with risk of juvenile and childhood obesity in Danes: a case-control study.

Published in:

2015

By:

Hollensted, Mette;
Ahluwalia, Tarunveer S.;
Have, Christian Theil;
Grarup, Niels;
Fonvig, Cilius Esmann;
Haarmark Nielsen, Tenna Ruest;
Trier, Cæcilie;
Paternoster, Lavinia;
Pedersen, Oluf;
Holm, Jens-Christian;
Sørensen, Thorkild I. A.;
Hansen, Torben

Publication type:

Case Study

Erratum to: Polymorphisms in GCKR, SLC17A1 and SLC22A12 were associated with phenotype gout in Han Chinese males: a case–control study.

Published in:: 2015
Publication type:: Correction Notice

Intragenic duplication in the PHKD1 gene in autosomal recessive polycystic kidney disease.

Published in:

2015

By:

Jun Miyazaki;
Mayuko Ito;
Haruki Nishizawa;
Takema Kato;
Yukito Minami;
Hidehito Inagaki;
Tamae Ohye;
Masafumi Miyata;
Hiroko Boda;
Yuka Kiriyama;
Makoto Kuroda;
Takao Sekiya;
Hiroki Kurahashi;
Takuma Fujii

Publication type:

Case Study

Analysis of association among clinical features and shorter leukocyte telomere length in mitochondrial diabetes with m.3243A>G mitochondrial DNA mutation.

Published in:

BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0238-2

By:

Mei-Cen Zhou;
Rui Min;
Jian-Jun Ji;
Shi Zhang;
An-Li Tong;
Jian-ping Xu;
Zeng-Yi Li;
Hua-Bing Zhang;
Yu-Xiu Li

Publication type:

Article

Genetics, sleep and memory: a recall-by-genotype study of ZNF804A variants and sleep neurophysiology.

Published in:

BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0244-4

By:

Hellmich, Charlotte;
Durant, Claire;
Jones, Matthew W.;
Timpson, Nicholas J.;
Bartsch, Ullrich;
Corbin, Laura J.

Publication type:

Article

Mutation in NRAS in familial Noonan syndrome - case report and review of the literature.

Published in:

BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0239-1

By:

Ekvall, Sara;
Wilbe, Maria;
Dahlgren, Jovanna;
Legius, Eric;
van Haeringen, Arie;
Westphal, Otto;
Annerén, Göran;
Bondeson, Marie-Louise

Publication type:

Article

NPHS2 mutations account for only 15 % of nephrotic syndrome cases.

Published in:

BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0231-9

By:

Sanches Guaragna, Mara;
Lutaif, Anna Cristina G. B.;
Piveta, Cristiane S. C.;
Souza, Marcela L.;
de Souza, Suéllen R.;
Henriques, Taciane B.;
Maciel-Guerra, Andréa T.;
Belangero, Vera M. S.;
Guerra-Junior, Gil;
De Mello, Maricilda P.

Publication type:

Article

A 16q deletion involving FOXF1 enhancer is associated to pulmonary capillary hemangiomatosis.

Published in:

BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0241-7

By:

Dello Russo, Patrizia;
Franzoni, Alessandra;
Baldan, Federica;
Puppin, Cinzia;
De Maglio, Giovanna;
Pittini, Carla;
Cattarossi, Luigi;
Pizzolitto, Stefano;
Damante, Giuseppe

Publication type:

Article

Establishing disease causality for a novel gene variant in familial dilated cardiomyopathy using a functional in-vitro assay of regulated thin filaments and human cardiac myosin.

Published in:

BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0243-5

By:

Pan, Stephen;
Sommese, Ruth F.;
Sallam, Karim I.;
Nag, Suman;
Sutton, Shirley;
Miller, Susan M.;
Spudich, James A.;
Ruppel, Kathleen M.;
Ashley, Euan A.

Publication type:

Article

Relationships between putative G-quadruplex-forming sequences, RecQ helicases, and transcription.

Published in:

BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0236-4

By:

Smestad, John A.;
Maher III, L. James

Publication type:

Article

Next-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patients.

Published in:

BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0235-5

By:

Luzón-Toro, Berta;
Espino-Paisán, Laura;
Fernández, Raquel Ma.;
Martín-Sánchez, Marta;
Antiñolo, Guillermo;
Borrego, Salud

Publication type:

Article

Angiogenesis related genes NOS3, CD14, MMP3 and IL4R are associated to VEGF gene expression and circulating levels in healthy adults.

Published in:

BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0234-6

By:

Saleh, Abdelsalam;
Stathopoulou, Maria G.;
Dadé, Sébastien;
Ndiaye, Ndeye Coumba;
Azimi-Nezhad, Mohsen;
Murray, Helena;
Masson, Christine;
Lamont, John;
Fitzgerald, Peter;
Visvikis-Siest, Sophie

Publication type:

Article

MTTP-297H polymorphism reduced serum cholesterol but increased risk of non-alcoholic fatty liver disease-a cross-sectional study.

Published in:

BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0242-6

By:

Pi-Jung Hsiao;
Mei-Yueh Lee;
Yeng-Tseng Wang;
He-Jiun Jiang;
Pi-Chen Lin;
Yi-Hsin Connie Yang;
Kung-Kai Kuo

Publication type:

Article

SDHC methylation in gastrointestinal stromal tumors (GIST): a case report.

Published in:

2015

By:

Urbini, Milena;
Astolfi, Annalisa;
Indio, Valentina;
Heinrich, Michael C.;
Corless, Christopher L.;
Nannini, Margherita;
Ravegnini, Gloria;
Biasco, Guido;
Pantaleo, Maria A.

Publication type:

Case Study

Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL–C levels in a latvian population.

Published in:

BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0230-x

By:

Radovica-Spalvina, Ilze;
Latkovskis, Gustavs;
Silamikelis, Ivars;
Fridmanis, Davids;
Elbere, Ilze;
Ventins, Karlis;
Ozola, Guna;
Erglis, Andrejs;
Klovins, Janis

Publication type:

Article

Spinal ependymoma in a patient with Kabuki syndrome: a case report.

Published in:

2015

By:

Roma, Davide;
Palma, Paolo;
Capolino, Rossella;
Figà-Talamanca, Lorenzo;
Diomedi-Camassei, Francesca;
Lepri, Francesca Romana;
Digilio, Maria Cristina;
Marras, Carlo Efisio;
Messina, Raffaella;
Carai, Andrea;
Randi, Franco;
Mastronuzzi, Angela

Publication type:

Case Study

Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.

Published in:

BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0224-8

By:

Antoniadi, Thalia;
Buxton, Chris;
Dennis, Gemma;
Forrester, Natalie;
Smith, Debbie;
Lunt, Peter;
Burton-Jones, Sarah

Publication type:

Article

Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease.

Published in:

2015

By:

Masliah-Planchon, Julien;
Dupont, Céline;
Vartzelis, George;
Trimouille, Aurélien;
Eymard-Pierre, Eléonore;
Gay-Bellile, Mathilde;
Renaldo, Florence;
Dorboz, Imen;
Pagan, Cécile;
Quentin, Samuel;
Elmaleh, Monique;
Kotsogianni, Christina;
Konstantelou, Elissavet;
Drunat, Séverine;
Tabet, Anne-Claude;
Boespflug-Tanguy, Odile

Publication type:

Case Study

Targeted exome sequencing reveals novel USH2A mutations in Chinese patients with simplex Usher syndrome.

Published in:

BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0223-9

By:

Hai-Rong Shu;
Huai Bi;
Yang-Chun Pan;
Hang-Yu Xu;
Jian-Xin Song;
Jie Hu

Publication type:

Article

Functional characterisation of the osteoarthritis susceptibility locus at chromosome 6q14.1 marked by the polymorphism rs9350591.

Published in:

BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0215-9

By:

Johnson, Katherine;
Reynard, Louise N.;
Loughlin, John

Publication type:

Article

Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technology.

Published in:

BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0232-8

By:

Melo Svidnicki, Maria Carolina Costa;
Silva-Costa, Sueli Matilde;
Ramos, Priscila Zonzini;
Dos Santos, Nathalia Zocal Pereira;
Arrojo Martins, Fábio Tadeu;
Castilho, Arthur Menino;
Sartorato, Edi Lúcia

Publication type:

Article

Hair shaft structures in EDAR induced ectodermal dysplasia.

Published in:

BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0227-5

By:

Stecksén-Blicks, C.;
Kieri, C. Falk;
Hägg, D.;
Schmitt-Egenolf, M.

Publication type:

Article

CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon.

Published in:

2015

By:

Pisaneschi, Elisa;
Sirleto, Pietro;
Lepri, Francesca Romana;
Genovese, Silvia;
Dentici, Maria Lisa;
Petrocchi, Stefano;
Angioni, Adriano;
Digilio, Maria Cristina;
Dallapiccola, Bruno

Publication type:

Case Study

β<sub>2</sub>-Adrenergic receptor promoter haplotype influences the severity of acute viral respiratory tract infection during infancy: a prospective cohort study.

Published in:

BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0229-3

By:

Pingsheng Wu;
Larkin, Emma K.;
Reiss, Sara S.;
Carroll, Kecia N.;
Summar, Marshall L.;
Minton, Patricia A.;
Woodward, Kimberly B.;
Zhouwen Liu;
Islam, Jessica Y.;
Hartert, Tina V.;
Moore, Paul E.

Publication type:

Article

Polymorphism in microRNA-binding site in HNF1B influences the susceptibility of type 2 diabetes mellitus: a population based case-control study.

Published in:

BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0219-5

By:

Naoki Goda;
Haruna Murase;
Nobuhiko Kasezawa;
Toshinao Goda;
Kimiko Yamakawa-Kobayashi

Publication type:

Article

Association of single nucleotide polymorphism rs3792876 in SLC22A4 gene with autoimmune thyroid disease in a Chinese Han population.

Published in:

BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0222-x

By:

Xin Hou;
Jinyuan Mao;
Yushu Li;
Jia Li;
Weiwei Wang;
Chenling Fan;
Hong Wang;
Hongmei Zhang;
Zhongyan Shan;
Weiping Teng

Publication type:

Article

β<sub>2</sub>-Adrenergic receptor promoter haplotype influences the severity of acute viral respiratory tract infection during infancy: a prospective cohort study.

Published in:

BMC Medical Genetics, 2015, v. 16, n. 1, p. 82, doi. 10.1186/s12881-015-0229-3

By:

Pingsheng Wu;
Larkin, Emma K.;
Reiss, Sara S.;
Carroll, Kecia N.;
Summar, Marshall L.;
Minton, Patricia A.;
Woodward, Kimberly B.;
Zhouwen Liu;
Islam, Jessica Y.;
Hartert, Tina V.;
Moore, Paul E.

Publication type:

Article

KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome.

Published in:

BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0211-0

By:

Moreno-Igoa, María;
Hernández-Charro, Blanca;
Bengoa-Alonso, Amaya;
Pérez-Juana-del-Casal, Aranzazu;
Romero-Ibarra, Carlos;
Nieva-Echebarria, Beatriz;
Ramos-Arroyo, María Antonia

Publication type:

Article

Gender-specific associations between ADIPOQ gene polymorphisms and adiponectin levels and obesity in the Jackson Heart Study cohort.

Published in:

BMC Medical Genetics, 2015, v. 16, n. 1, p. 65, doi. 10.1186/s12881-015-0214-x

By:

Riestra, Pia;
Gebreab, Samson Y.;
Xu, Ruihua;
Khan, Rumana J.;
Bidulescu, Aurelian;
Correa, Adolfo;
Tekola-Ayele, Fasil;
Davis, Sharon K.

Publication type:

Article

A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: a twelve-year follow-up and literature review.

Published in:

2015

By:

Stagi, Stefano;
Lapi, Elisabetta;
Pantaleo, Marilena;
Carella, Massimo;
Petracca, Antonio;
De Crescenzo, Agostina;
Zelante, Leopoldo;
Riccio, Andrea;
de Martino, Maurizio

Publication type:

Case Study

A 5.8 Mb interstitial deletion on chromosome Xq21.1 in a boy with intellectual disability, cleft palate, hearing impairment and combined growth hormone deficiency.

Published in:

2015

By:

Giordano, M.;
Gertosio, C.;
Pagani, S.;
Meazza, C.;
Fusco, I.;
Bozzola, E.;
Bozzola, M.

Publication type:

Case Study

LOXL1 gene variants and their association with pseudoexfoliation glaucoma (XFG) in Spanish patients.

Published in:

BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0221-y

By:

Álvarez, Lydia;
García, Montserrat;
González-Iglesias, Héctor;
Escribano, Julio;
Rodríguez-Calvo, Pedro P.;
Fernández-Vega, Luis;
Coca-Prados, Miguel

Publication type:

Article

Genetic polymorphisms associated with the inflammatory response in bacterial meningitis.

Published in:

BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0218-6

By:

Lima Fontes, Fabrícia;
Ferreira de Araújo, Luíza;
Gomes Coutinho, Leonam;
Leib, Stephen L.;
Fassarella Agnez-Lima, Lucymara

Publication type:

Article