Works matching DE "EXONS (Genetics)"

Results: 4713

Characterisation of the Novel HLA‐DQA1*01:140 Allele by Next‐Generation Sequencing.

Published in:

HLA: Immune Response Genetics, 2025, v. 106, n. 1, p. 1, doi. 10.1111/tan.70343

By:

Pi, Wenwen;
Chen, Chen;
Wang, Fang;
Zhang, Wei;
Zhu, Faming

Publication type:

Article

High‐Resolution Sequencing Identifies a Novel HLA‐Allele—HLA‐DRB1*13:368.

Published in:

HLA: Immune Response Genetics, 2025, v. 106, n. 1, p. 1, doi. 10.1111/tan.70342

By:

Loginova, Maria;
Obukhov, Ivan;
Paramonov, Igor

Publication type:

Article

Identification of the Novel HLA‐DQA1*03:60 Allele Using Next‐Generation Sequencing.

Published in:

HLA: Immune Response Genetics, 2025, v. 106, n. 1, p. 1, doi. 10.1111/tan.70335

By:

Kim, Jiyeon;
Park, Jongseon;
Jung, Sunmi;
Lee, Jina;
Park, Younhee

Publication type:

Article

Identification of the Novel HLA‐DPA1*02:113 Allele Using Next‐Generation Sequencing.

Published in:

HLA: Immune Response Genetics, 2025, v. 106, n. 1, p. 1, doi. 10.1111/tan.70334

By:

Song, Junhyup;
Park, Jongseon;
Jung, Sunmi;
Lee, Jina;
Park, Younhee

Publication type:

Article

Identification of the Novel HLA‐DRB1*12:110 Allele Using Next‐Generation Sequencing.

Published in:

HLA: Immune Response Genetics, 2025, v. 106, n. 1, p. 1, doi. 10.1111/tan.70332

By:

Song, Junhyup;
Park, Jongseon;
Jung, Sunmi;
Lee, Jina;
Park, Younhee

Publication type:

Article

Identification of the Novel HLA‐DQA1*01:176 Allele Using Next‐Generation Sequencing.

Published in:

HLA: Immune Response Genetics, 2025, v. 106, n. 1, p. 1, doi. 10.1111/tan.70329

By:

Song, Junhyup;
Choi, Jul Li;
Jung, Sunmi;
Lee, Jina;
Park, Younhee

Publication type:

Article

Identification of the Novel HLA‐DQA1*01:175 Allele Using Next‐Generation Sequencing.

Published in:

HLA: Immune Response Genetics, 2025, v. 106, n. 1, p. 1, doi. 10.1111/tan.70328

By:

Song, Junhyup;
Choi, Jul Li;
Jung, Sunmi;
Lee, Jina;
Park, Younhee

Publication type:

Article

Characterisation of the Novel HLA‐A*29:198 Allele Using New Next‐Generation Sequencing Methods.

Published in:

HLA: Immune Response Genetics, 2025, v. 106, n. 1, p. 1, doi. 10.1111/tan.70327

By:

Marchal, Théo;
Hubert, Lucas;
Frassati, Coralie;
Basire, Agnès;
Pedini, Pascal

Publication type:

Article

Identification of the Novel HLA‐DQA1*06:06 Allele Using Next‐Generation Sequencing.

Published in:

HLA: Immune Response Genetics, 2025, v. 106, n. 1, p. 1, doi. 10.1111/tan.70326

By:

Song, Junhyup;
Park, Jongseon;
Jung, Sunmi;
Lee, Jina;
Park, Younhee

Publication type:

Article

Characterisation of a Novel HLA‐C Allele, HLA‐C*08:307N.

Published in:

HLA: Immune Response Genetics, 2025, v. 106, n. 1, p. 1, doi. 10.1111/tan.70319

By:

Devriese, Magali;
Le Collonnier, Anne‐Flore;
Carmagnat, Maryvonnick;
Toullec, Laurie;
Taupin, Jean‐Luc

Publication type:

Article

First Report of the HLA‐DQB1*03:575 Allele in a Kidney Transplant Recipient of European Descent.

Published in:

HLA: Immune Response Genetics, 2025, v. 106, n. 1, p. 1, doi. 10.1111/tan.70318

By:

Ryeed, R.;
de Koning, K.;
Sharma, A.;
Beaune, D.;
Sidahmed, A. M. E.

Publication type:

Article

Characterisation of the Novel HLA‐C*14:168 Allele by Two Different Sequencing‐Based Typing Techniques.

Published in:

HLA: Immune Response Genetics, 2025, v. 106, n. 1, p. 1, doi. 10.1111/tan.70316

By:

Devriese, Magali;
Le Collonnier, Anne‐Flore;
Le Mene, Melchior;
Taupin, Jean‐Luc

Publication type:

Article

Characterisation of the HLA‐DPB1*1748:01 Allele by Next‐Generation Sequencing.

Published in:

HLA: Immune Response Genetics, 2025, v. 106, n. 1, p. 1, doi. 10.1111/tan.70313

By:

Zhao, He;
Webster, Destinie;
Perace, Twyla;
Mostafa, Ahmed

Publication type:

Article

Identification of the Novel HLA‐B*35:606 Allele Using Next‐Generation Sequencing.

Published in:

HLA: Immune Response Genetics, 2025, v. 106, n. 1, p. 1, doi. 10.1111/tan.70310

By:

Song, Junhyup;
Park, Jongseon;
Jung, Sunmi;
Lee, Jina;
Kim, Sinyoung;
Park, Younhee

Publication type:

Article

Identification of the Novel HLA‐DPA1*02:112 Allele Using Next‐Generation Sequencing.

Published in:

HLA: Immune Response Genetics, 2025, v. 106, n. 1, p. 1, doi. 10.1111/tan.70309

By:

Bae, Jeongyun;
Hong, Jun Young;
Jung, Sunmi;
Lee, Jina;
Park, Younhee

Publication type:

Article

Characterisation of the Novel HLA‐DRB4*01:193 Allele by Sequencing‐Based Typing.

Published in:

HLA: Immune Response Genetics, 2025, v. 106, n. 1, p. 1, doi. 10.1111/tan.70308

By:

Blandin, Lucie;
Wojciechowski, Elodie;
Ralazamahaleo, Mamy;
Lemal, Richard;
Rouzaire, Paul

Publication type:

Article

Full Genomic Sequence of the HLA‐C*01:289 Allele Identified by Next Generation Sequencing.

Published in:

HLA: Immune Response Genetics, 2025, v. 106, n. 1, p. 1, doi. 10.1111/tan.70294

By:

Yang, John Jeongseok;
Eom, Sohyeon;
Kang, Eun‐Suk

Publication type:

Article

Association between the SMN2 gene copy number and clinical characteristics of patients with spinal muscular atrophy with homozygous deletion of exon 7 of the SMN1 gene.

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2015, v. 72, n. 10, p. 859, doi. 10.2298/VSP140328072Z

By:

Žarkov, Marija;
Stojadinović, Aleksandra;
Sekulić, Slobodan;
Barjaktarović, Iva;
Stojiljković, Olivera;
Perić, Stojan;
Keković, Goran;
Drašković, Biljana;
Stević, Zorica

Publication type:

Article

Non-Syndromic Hereditary Gingival Fibromatosis in Three Chinese Families is Not Due to S OS1 Gene Mutations.

Published in:

Cell Biochemistry & Biophysics, 2014, v. 70, n. 3, p. 1869, doi. 10.1007/s12013-014-0144-9

By:

Ma, Yanyan;
Sun, Zheng;
Hu, Ying;
Liu, Yi;
Jin, Lingling;
Zhang, Fenqiu

Publication type:

Article

Novel c.2216T > C (p.I739T) Mutation in Exon 13 and c.1481T > A (p.L494X) Mutation in Exon 8 of MUT Gene in a Female with Methylmalonic Acidemia.

Published in:

Cell Biochemistry & Biophysics, 2013, v. 67, n. 1, p. 185, doi. 10.1007/s12013-013-9532-9

By:

Imataka, George;
Sakamoto, Osamu;
Yamanouchi, Hideo;
Yoshihara, Shigemi;
Omura-Hasegawa, Yuki;
Tajima, Go;
Arisaka, Osamu

Publication type:

Article

Analysis of Driver Mutations in Female Non-Smoker Asian Patients with Pulmonary Adenocarcinoma.

Published in:

Cell Biochemistry & Biophysics, 2012, v. 64, n. 2, p. 155, doi. 10.1007/s12013-012-9384-8

By:

Ren, Shengxiang;
Kuang, Peng;
Zheng, Limou;
Su, Chunxia;
Li, Jiayu;
Li, Bing;
Chen, Xiaoxia;
Wang, Yongshen;
KimCurran, V.;
Liu, Lu;
Hu, Qiong;
Zhang, Jie;
Tang, Liang;
Zhou, Caicun

Publication type:

Article

Study on the Relationship Between TSHR Gene and Thyroid Diseases.

Published in:

Cell Biochemistry & Biophysics, 2011, v. 61, n. 2, p. 377, doi. 10.1007/s12013-011-9194-4

By:

Shao, Li;
Jiang, Hua;
Liang, Jun;
Niu, Xianping;
Teng, Lili;
Zhang, Hua

Publication type:

Article

Selectable marker-free transgenic orange plants recovered under non-selective conditions and through PCR analysis of all regenerants.

Published in:

Plant Cell, Tissue & Organ Culture, 2010, v. 102, n. 3, p. 329, doi. 10.1007/s11240-010-9737-1

By:

Ballester, A.;
Cervera, M.;
Peña, L.

Publication type:

Article

TP53 and p53 statuses and their clinical impact in diffuse low grade gliomas.

Published in:

Journal of Neuro-Oncology, 2014, v. 118, n. 1, p. 131, doi. 10.1007/s11060-014-1407-4

By:

Gillet, Emeline;
Alentorn, Agusti;
Doukouré, Brahima;
Mundwiller, Emeline;
Thuij, Hinke;
Reijneveld, Jaap;
Medina, José;
Liou, Amélie;
Marie, Yannick;
Mokhtari, Karima;
Hoang-Xuan, Khê;
Sanson, Marc;
Delattre, Jean-Yves;
Idbaih, Ahmed

Publication type:

Article

H3.3 G34R mutations in pediatric primitive neuroectodermal tumors of central nervous system (CNS-PNET) and pediatric glioblastomas: possible diagnostic and therapeutic implications?

Published in:

Journal of Neuro-Oncology, 2013, v. 112, n. 1, p. 67, doi. 10.1007/s11060-012-1040-z

By:

Gessi, Marco;
Gielen, Gerrit;
Hammes, Jennifer;
Dörner, Evelyn;
Mühlen, Anja;
Waha, Andreas;
Pietsch, Torsten

Publication type:

Article

The rice thermo-sensitive genic male sterility gene tms9: pollen abortion and gene isolation.

Published in:

Euphytica, 2015, v. 203, n. 1, p. 145, doi. 10.1007/s10681-014-1285-z

By:

Sheng, Zhonghua;
Tang, Liqun;
Shao, Gaoneng;
Xie, Lihong;
Jiao, Guiai;
Tang, Shaoqing;
Hu, Peisong

Publication type:

Article

RGA-ILP, a new type of functional molecular markers in bread wheat.

Published in:

Euphytica, 2010, v. 172, n. 2, p. 263, doi. 10.1007/s10681-009-0063-9

By:

World Shang;
Ronghua Zhou;
Jizeng Jia;
Lifeng Gao

Publication type:

Article

Translational Research and Therapeutic Perspectives in Dysferlinopathies.

Published in:

Molecular Medicine, 2011, v. 17, n. 9/10, p. 875, doi. 10.2119/molmed.2011.00084

By:

Barthélémy, Florian;
Wein, Nicolas;
Krahn, Martin;
Lévy, Nicolas;
Bartoli, Marc

Publication type:

Article

Diverging Alternative Splicing Fingerprints in the Transforming Growth Factor-β Signaling Pathway Identified in Thoracic Aortic Aneurysms.

Published in:

Molecular Medicine, 2011, v. 17, n. 7/8, p. 665, doi. 10.2119/molmed.2011.00018

By:

Kurtovic, Sanela;
Paloschi, Valentina;
Folkersen, Lasse;
Gottfries, Johan;
Franco-Cereceda, Anders;
Eriksson, Per

Publication type:

Article

Haplotypes of CYP3A4 and their close linkage with CYP3A5 haplotypes in a Japanese population (Communicated by Michael Dean) Online Citation: Human Mutation, Mutation in Brief #681 (2003) Online http://www.interscience.wiley.com/homepages/38515/pdf/mutation/681.pdf)

Published in:

Human Mutation, 2004, v. 23, n. 1, p. 100, doi. 10.1002/humu.9210

By:

Hiromi Fukushima-Uesaka;
Yoshiro Saito;
Hidemi Watanabe;
Kisho Shiseki;
Mayumi Saeki;
Takahiro Nakamura;
Kouichi Kurose;
Kimie Sai;
Kazuo Komamura;
Kazuyuki Ueno;
Shiro Kamakura;
Masafumi Kitakaze;
Sotaro Hanai;
Toshiharu Nakajima;
Kenji Matsumoto;
Hirohisa Saito;
Yu-ichi Goto;
Hideo Kimura;
Masaaki Katoh;
Kenji Sugai

Publication type:

Article

Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD)(Communicated by Mark H. Paalman)Online Citation: Human Mutation, Mutation in Brief #660 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/660.pdf).

Published in:

Human Mutation, 2003, v. 22, n. 5, p. 418

By:

Franziska Krämer;
Nicole Mohr;
Ulrich Kellner;
Günther Rudolph;
Bernhard H.F. Weber

Publication type:

Article

Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #646 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/646.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 259, doi. 10.1002/humu.9175

By:

Carina M. Rivolta;
Sebastián A. Esperante;
Laura Gruñeiro-Papendieck;
Ana Chiesa;
Christian M. Moya;
Sabina Domené;
Viviana Varela;
Héctor M. Targovnik

Publication type:

Article

Detection and assignment of TP53 mutations in tumor DNA using peptide mass signature genotyping (Communicated by Mark H. Paalman).

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 158, doi. 10.1002/humu.10248

By:

Cheryl A. Telmer;
Jiyan An;
David E. Malehorn;
Xuemei Zeng;
Susanne M. Gollin;
Chandramohan S. Ishwad;
Jonathan W. Jarvik

Publication type:

Article

Identification and characterization of genomic rearrangements of MSH2 and MLH1 in Lynch syndrome (HNPCC) by novel techniques (Communicated by Daniel Schorderet) Online Citation: Human Mutation, Mutation in Brief #642 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/642.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 258, doi. 10.1002/humu.9171

By:

Hidewaki Nakagawa;
Heather Hampel;
Albert de la Chapelle

Publication type:

Article

Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defectCommunicated by Mark H. PaalmanOnline Citation:Human Mutation, Mutation in Brief #646 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/646.pdf

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 259, doi. 10.1002/humu.9175

By:

Carina M. Rivolta;
Sebastián A. Esperante;
Laura Gruñeiro?Papendieck;
Ana Chiesa;
Christian M. Moya;
Sabina Domené;
Viviana Varela;
Héctor M. Targovnik

Publication type:

Article

Identification and characterization of genomic rearrangements of MSH2 and MLH1 in Lynch syndrome (HNPCC) by novel techniquesCommunicated by Daniel SchorderetOnline Citation: Human Mutation, Mutation in Brief #642 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/642.pdf

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 258, doi. 10.1002/humu.9171

By:

Hidewaki Nakagawa;
Heather Hampel;
Albert de la Chapelle

Publication type:

Article

PTEN: One Gene, Many Syndromes.

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 183, doi. 10.1002/humu.10257

By:

Charis Eng

Publication type:

Article

Founder mutation in the BRCA1 gene in Malay breast cancer patients from SingaporeCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #633 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/633.pdf.

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 178, doi. 10.1002/humu.9162

By:

Ann S.G. Lee;
G.H. Ho;
P.C. Oh;
C. Balram;
L.L. Ooi;
D.T.H. Lim;
C.Y. Wong;
G.S. Hong

Publication type:

Article

A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 geneCommunicated by Graham R. Taylor.

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 136, doi. 10.1002/humu.10245

By:

Ivon Cuscó;
Eva López;
Carolina Soler?Botija;
María Jesús Barceló;
Montserrat Baiget;
Eduardo F. Tizzano

Publication type:

Article

Detection and assignment of TP53 mutations in tumor DNA using peptide mass signature genotypingCommunicated by Mark H. Paalman.

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 158, doi. 10.1002/humu.10248

By:

Cheryl A. Telmer;
Jiyan An;
David E. Malehorn;
Xuemei Zeng;
Susanne M. Gollin;
Chandramohan S. Ishwad;
Jonathan W. Jarvik

Publication type:

Article

Mutation screening of the N?myc downstream?regulated gene 1 (NDRG1) in patients with Charcot?Marie?Tooth DiseaseCommunicated by Christine van Broeckhoven.

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 129, doi. 10.1002/humu.10240

By:

Michael Hunter;
Rafaëlle Bernard;
Elizabeth Freitas;
Amandine Boyer;
Bharti Morar;
Ian J. Martins;
Ivailo Tournev;
Albena Jordanova;
Velina Guergelcheva;
Boryana Ishpekova;
Ivo Kremensky;
Garth Nicholson;
Beate Schlotter;
Hanns Lochmüller;
Thomas Voit;
Jaume Colomer;
P.K. Thomas;
Nicolas Levy;
Luba Kalaydjieva

Publication type:

Article

Characterisation of a 161 kb deletion extending from the NBR1 to the BRCA1 genes in a French breast-ovarian cancer family(Communicated by Richard G.H. Cotton)Online Citation: Human Mutation, Mutation in Brief #619 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/619.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 6, p. 654, doi. 10.1002/humu.9148

By:

Sophie Gad;
Ivan Bièche;
Michel Barrois;
Federica Casilli;
Sabine Pages-Berhouet;
Catherine Dehainault;
Marion Gauthier-Villars;
Aaron Bensimon;
Alain Aurias;
Rosette Lidereau;
Brigitte Bressac-de Paillerets;
Mario Tosi;
Sylvie Mazoyer

Publication type:

Article

Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset (Communicated by Arnold Munnich) Online Citation: Human Mutation, Mutation in Brief #589 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/589.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 444

By:

J. Häberle;
E. Schmidt;
S. Pauli;
B. Rapp;
E. Christensen;
B. Wermuth;
H.G. Koch

Publication type:

Article

Comparative multiplex dosage analysis detects whole exon deletions at the phenylalanine hydroxylase locus (For the PKU Special Issue).

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 379, doi. 10.1002/humu.10199

By:

Mary Gable;
Margaret Williams;
Anne Stephenson;
Yoshiyuki Okano;
Susan Ring;
Melanie Hurtubise;
Linda Tyfield

Publication type:

Article

Identification of novel SNPs in the interleukin 6 receptor gene (IL6R)Communicated by Michael DeanOnline Citation: Human Mutation, Mutation in Brief #601 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/601.pdf.

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 450, doi. 10.1002/humu.9130

By:

Lyoung Hyo Kim;
Hyo?Suk Lee;
Yoon Jun Kim;
Ji Hyun Jung;
Jun Yeun Kim;
Byung Lae Park;
Hyoung Doo Shin

Publication type:

Article

The molecular basis of phenylketonuria in LatviaFor the PKU Special IssueOnline Citation: Human Mutation, Mutation in Brief #585 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/585.pdf.

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 398, doi. 10.1002/humu.9114

By:

N. Pronina;
S. Giannattasio;
P. Lattanzio;
R. Lugovska;
P. Vevere;
A. Kornejeva

Publication type:

Article

Comparative multiplex dosage analysis detects whole exon deletions at the phenylalanine hydroxylase locusFor the PKU Special Issue.

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 379, doi. 10.1002/humu.10199

By:

Mary Gable;
Margaret Williams;
Anne Stephenson;
Yoshiyuki Okano;
Susan Ring;
Melanie Hurtubise;
Linda Tyfield

Publication type:

Article

C1q deficiency: identification of a novel missense mutation and treatment with fresh frozen plasma.

Published in:

Clinical Rheumatology, 2012, v. 31, n. 7, p. 1123, doi. 10.1007/s10067-012-1978-4

By:

Topaloglu, Rezan;
Taskiran, Ekim;
Tan, Cagman;
Erman, Baran;
Ozaltin, Fatih;
Sanal, Ozden

Publication type:

Article

CTLA4 exon1 A49G polymorphism in Slovak patients with rheumatoid arthritis and Hashimoto thyroiditis-results and the review of the literature.

Published in:

Clinical Rheumatology, 2011, v. 30, n. 10, p. 1319, doi. 10.1007/s10067-011-1752-z

By:

Benhatchi, Karim;
Jochmanová, Ivana;
Habalová, Viera;
Wagnerová, Hedviga;
Lazúrová, Ivica

Publication type:

Article

Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with a COL9A2 mutation (EDM2).

Published in:

Clinical Rheumatology, 2006, v. 25, n. 4, p. 591, doi. 10.1007/s10067-005-0034-z

By:

Takahashi, Mitsuhiko;
Matsui, Yoshito;
Goto, Tomohiro;
Nishimura, Gen;
Ikegawa, Shiro;
Ohashi, Hirofumi;
Yasui, Natsuo

Publication type:

Article