Works matching IS 14712350 AND DT 2018

Results: 222

Exacerbation of ichthyosis vulgaris phenotype by co-inheritance of STS and FLG mutations in a Chinese family with ichthyosis: a case report.

Published in:

2018

By:

Wang, Xiong;
Tan, Lu;
Shen, Na;
Lu, Yanjun;
Zhang, Ying

Publication type:

Case Study

Fc receptor-like 3 ( −169T>C ) polymorphism increases the risk of tendinopathy in volleyball athletes: a case control study.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0633-6

By:

Salles, José Inácio;
Lopes, Lucas Rafael;
Duarte, Maria Eugenia Leite;
Morrissey, Dylan;
Martins, Marilena Bezerra;
Machado, Daniel Escorsim;
Guimarães, João Antonio Matheus;
Perini, Jamila Alessandra

Publication type:

Article

A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report.

Published in:

2018

By:

Cherkaoui Jaouad, Imane;
Zrhidri, Abdelali;
Jdioui, Wafaa;
Lyahyai, Jaber;
Raymond, Laure;
Egéa, Grégory;
Taoudi, Mohamed;
El Mouatassim, Said;
Sefiani, Abdelaziz

Publication type:

Case Study

The most 5′ truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0639-0

By:

Kuptanon, Chulaluck;
Srichomthong, Chalurmpon;
Sangsin, Apiruk;
Kovitvanitcha, Dool;
Suphapeetiporn, Kanya;
Shotelersuk, Vorasuk

Publication type:

Article

Association between DSCAM polymorphisms and non-syndromic Hirschsprung disease in Chinese population.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0637-2

By:

Wang, Yong;
He, Qiuming;
Zhang, Ruizhong;
Zhong, Wei;
Zhu, Deli;
Zhang, Yan;
Xia, Huimin

Publication type:

Article

Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the <italic>MMAA</italic> gene in two Chinese siblings.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0635-4

By:

Lin, Yiming;
Lin, Chunmei;
Lin, Weihua;
Zheng, Zhenzhu;
Han, Mingya;
Fu, Qingliu

Publication type:

Article

Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0629-2

By:

Kor, Yılmaz;
Zou, Minjing;
Al-Rijjal, Roua A.;
Monies, Dorota;
Meyer, Brian F.;
Shi, Yufei

Publication type:

Article

Study of patterns of inheritance of premature ovarian failure syndrome carrying maternal and paternal premutations.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0634-5

By:

Beke, Artur;
Piko, Henriett;
Haltrich, Iren;
Karcagi, Veronika;
Rigo, Janos;
Molnar, Maria Judit;
Fekete, György

Publication type:

Article

The effect of ERCC1 and ERCC2 gene polymorphysims on response to cisplatin based therapy in osteosarcoma patients.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0627-4

By:

Obiedat, Hadeel;
Alrabadi, Nasr;
Sultan, Eyad;
Al Shatti, Marwa;
Zihlif, Malek

Publication type:

Article

Identification of <italic>ANKDD1B</italic> variants in an ankylosing spondylitis pedigree and a sporadic patient.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0622-9

By:

Tan, Zhiping;
Zeng, Hui;
Xu, Zhaofa;
Tian, Qi;
Gao, Xiaoyang;
Zhou, Chuanman;
Zheng, Yu;
Wang, Jian;
Ling, Guanghui;
Wang, Bing;
Yang, Yifeng;
Ma, Long

Publication type:

Article

Identification of deletion-duplication in <italic>HEXA</italic> gene in five children with Tay-Sachs disease from India.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0632-7

By:

Sheth, Jayesh;
Mistri, Mehul;
Mahadevan, Lakshmi;
Mehta, Sanjeev;
Solanki, Dhaval;
Kamate, Mahesh;
Sheth, Frenny

Publication type:

Article

Association of genetic polymorphisms in vascular endothelial growth factor with susceptibility to coronary artery disease: a meta–analysis.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0628-3

By:

Ma, Wen-Qi;
Wang, Ying;
Han, Xi-Qiong;
Zhu, Yi;
Liu, Nai-Feng

Publication type:

Article

Genome-wide association study of nocturnal blood pressure dipping in hypertensive patients.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0624-7

By:

Rimpelä, Jenni M.;
Pörsti, Ilkka H.;
Jula, Antti;
Lehtimäki, Terho;
Niiranen, Teemu J.;
Oikarinen, Lasse;
Porthan, Kimmo;
Tikkakoski, Antti;
Virolainen, Juha;
Kontula, Kimmo K.;
Hiltunen, Timo P.

Publication type:

Article

A 73,128 bp <italic>de novo</italic> deletion encompassing the <italic>OPN1LW/OPN1MW</italic> gene cluster in sporadic Blue Cone Monochromacy: a case report.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0623-8

By:

Buena-Atienza, Elena;
Nasser, Fadi;
Kohl, Susanne;
Wissinger, Bernd

Publication type:

Article

A Chinese family affected by lynch syndrome caused by <italic>MLH1</italic> mutation.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0605-x

By:

Jia, Shuqin;
Zhang, Meng;
Sun, Yu;
Yan, Hai;
Zhao, Fangping;
Li, Ziyu;
Ji, Jiafu

Publication type:

Article

Three novel mutations in the <italic>ATP7B</italic> gene of unrelated Vietnamese patients with Wilson disease.

Published in:

2018

By:

Huong, Nguyen Thi Mai;
Lien, Nguyen Thi Kim;
Ngoc, Ngo Diem;
Mai, Nguyen Thi Phuong;
Hoa, Nguyen Pham Anh;
Hai, Le Thanh;
Van Chi, Phan;
Van, Ta Thanh;
Van Khanh, Tran;
Hoang, Nguyen Huy

Publication type:

Case Study

Clinical characteristics and spectrum of <italic>NF1</italic> mutations in 12 unrelated Chinese families with neurofibromatosis type 1.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0615-8

By:

Mao, Bin;
Chen, Siyu;
Chen, Xin;
Yu, Xiumei;
Zhai, Xiaojia;
Yang, Tao;
Li, Lulu;
Wang, Zheng;
Zhao, Xiuli;
Zhang, Xue

Publication type:

Article

<italic>SLC4A4</italic> compound heterozygous mutations in exon–intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms coexisting with Turner's syndrome: a case report.

Published in:

2018

By:

Horita, Shoko;
Simsek, Enver;
Simsek, Tulay;
Yildirim, Nilgun;
Ishiura, Hiroyuki;
Nakamura, Motonobu;
Satoh, Nobuhiko;
Suzuki, Atsushi;
Tsukada, Hiroyuki;
Mizuno, Tomohito;
Seki, George;
Tsuji, Shoji;
Nangaku, Masaomi

Publication type:

Case Study

A de novo <italic>KMT2D</italic> mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report.

Published in:

2018

By:

Moon, Jung-Eun;
Lee, Su-Jeong;
Ko, Cheol Woo

Publication type:

Case Study

Role of DFNB1 mutations in hereditary hearing loss among assortative mating hearing impaired families from South India.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0609-6

By:

Amritkumar, Pavithra;
Jeffrey, Justin Margret;
Chandru, Jayasankaran;
Vanniya S, Paridhy;
Kalaimathi, M.;
Ramakrishnan, Rajagopalan;
Karthikeyen, N. P.;
Srikumari Srisailapathy, C. R.

Publication type:

Article

Mosaicism of the UDP-Galactose transporter <italic>SLC35A2</italic> in a female causing a congenital disorder of glycosylation: a case report.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0617-6

By:

Westenfield, Kristen;
Sarafoglou, Kyriakie;
Speltz, Laura C.;
Pierpont, Elizabeth I.;
Steyermark, Joan;
Nascene, David;
Bower, Matthew;
Pierpont, Mary Ella

Publication type:

Article

A novel homozygous variant of <italic>GPR98</italic> causes usher syndrome type IIC in a consanguineous Chinese family by next generation sequencing.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0602-0

By:

Wei, Chunli;
Yang, Lisha;
Cheng, Jingliang;
Imani, Saber;
Fu, Shangyi;
Lv, Hongbin;
Li, Yumei;
Chen, Rui;
Leung, Elaine Lai-Han;
Fu, Junjiang

Publication type:

Article

A systematic review and meta-analyses of the relationship between glutathione S-transferase gene polymorphisms and renal cell carcinoma susceptibility.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0620-y

By:

Zhong, Zhiqing;
Li, Hongyan;
Zhong, Hongzhen;
Zhou, Tianbiao;
Xie, Weiji;
Lin, Zhijun

Publication type:

Article

<italic>PHACTR1</italic> splicing isoforms and eQTLs in atherosclerosis-relevant human cells.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0616-7

By:

Codina-Fauteux, Valérie-Anne;
Beaudoin, Mélissa;
Lalonde, Simon;
Lo, Ken Sin;
Lettre, Guillaume

Publication type:

Article

Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0613-x

By:

Jalali-Sefid-Dashti, Mahjoubeh;
Nel, Melissa;
Heckmann, Jeannine M.;
Gamieldien, Junaid

Publication type:

Article

Common variant of <italic>BCAS3</italic> is associated with gout risk in Japanese population: the first replication study after gout GWAS in Han Chinese.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0583-z

By:

Sakiyama, Masayuki;
Matsuo, Hirotaka;
Nakaoka, Hirofumi;
Kawamura, Yusuke;
Kawaguchi, Makoto;
Higashino, Toshihide;
Nakayama, Akiyoshi;
Akashi, Airi;
Ueyama, Jun;
Kondo, Takaaki;
Wakai, Kenji;
Sakurai, Yutaka;
Yamamoto, Ken;
Ooyama, Hiroshi;
Shinomiya, Nariyoshi

Publication type:

Article

Impact of <italic>KCNQ1, CDKN2A/2B, CDKAL1, HHEX, MTNR1B, SLC30A8, TCF7L2</italic>, and <italic>UBE2E2</italic> on risk of developing type 2 diabetes in Thai population.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0614-9

By:

Plengvidhya, Nattachet;
Chanprasert, Chutima;
Chongjaroen, Nalinee;
Yenchitsomanus, Pa-thai;
Homsanit, Mayuree;
Tangjittipokin, Watip

Publication type:

Article

Rapid and effective response of the R222Q SCN5A to quinidine treatment in a patient with Purkinje-related ventricular arrhythmia and familial dilated cardiomyopathy: a case report.

Published in:

2018

By:

Zakrzewska-Koperska, Joanna;
Franaszczyk, Maria;
Bilińska, Zofia;
Truszkowska, Grażyna;
Karczmarz, Małgorzata;
Szumowski, Łukasz;
Zieliński, Tomasz;
Płoski, Rafał;
Bilińska, Maria

Publication type:

Case Study

Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report.

Published in:

2018

By:

Tan, Yuxia;
Hou, Mei;
Ma, Shaochun;
Liu, Peipei;
Xia, Shungang;
Wang, Yu;
Chen, Liping;
Chen, Zongbo

Publication type:

Case Study

An inherited FGFR2 mutation increased osteogenesis gene expression and result in Crouzon syndrome.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. 1, doi. 10.1186/s12881-018-0607-8

By:

Jiayan Fan;
Yinwei Li;
Renbing Jia;
Xianqun Fan

Publication type:

Article

A novel <italic>TSC2</italic> missense variant associated with a variable phenotype of tuberous sclerosis complex: case report of a Chinese family.

Published in:

2018

By:

Wang, Feng;
Xiong, Shiyi;
Wu, Lin;
Chopra, Maya;
Hu, Xihong;
Wu, Bingbing

Publication type:

Case Study

Clinical and genetic characteristics of pulmonary arterial hypertension in Lebanon.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0608-7

By:

Abou Hassan, Ossama K.;
Haidar, Wiam;
Nemer, Georges;
Skouri, Hadi;
Haddad, Fadi;
BouAkl, Imad

Publication type:

Article

Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents.

Published in:

BMC Medical Genetics, 2018, p. N.PAG, doi. 10.1186/s12881-018-0610-0

By:

Durdu, Murat;
Missaglia, Sara;
Moro, Laura;
Tavian, Daniela

Publication type:

Article

Dyskeratosis congenita with a novel genetic variant in the <italic>DKC1</italic> gene: a case report.

Published in:

2018

By:

Ratnasamy, Vithiya;
Navaneethakrishnan, Suganthan;
Sirisena, Nirmala Dushyanthi;
Grüning, Nana-Maria;
Brandau, Oliver;
Thirunavukarasu, Kumanan;
Dagnall, Casey L.;
McReynolds, Lisa J.;
Savage, Sharon A.;
Dissanayake, Vajira H. W.

Publication type:

Case Study

The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series.

Published in:

2018

By:

Youssefian, Leila;
Vahidnezhad, Hassan;
Touati, Andrew;
Ziaee, Vahid;
Saeidian, Amir Hossein;
Pajouhanfar, Sara;
Zeinali, Sirous;
Uitto, Jouni

Publication type:

Case Study

Splicing defect in <italic>FKBP10</italic> gene causes autosomal recessive osteogenesis imperfecta disease: a case report.

Published in:

2018

By:

Maghami, Fatemeh;
Tabei, Seyed Mohammad Bagher;
Moravej, Hossein;
Dastsooz, Hassan;
Modarresi, Farzaneh;
Silawi, Mohammad;
Faghihi, Mohammad Ali

Publication type:

Case Study

Analysis of the <italic>Pvu</italic>II and <italic>Xba</italic>I polymorphisms in the estrogen receptor alpha gene in girls with central precocious puberty: a pilot study.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0577-x

By:

Soares-Jr, José Maria;
de Holanda, Felisbela Soares;
Matsuzaki, Cézar Noboru;
Sorpreso, Isabel Cristina Esposito;
de Arruda Veiga, Eduardo Carvalho;
de Abreu, Luiz Carlos;
Carvalho, Kátia Cândido;
Baracat, Edmund Chada

Publication type:

Article

Exploration of the association between FOXE1 gene polymorphism and differentiated thyroid cancer: a meta-analysis.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0604-y

By:

Chen, Yong-Hui;
Zhang, Ying-Qiang

Publication type:

Article

Identification of a novel nonsense mutation in the <italic>UNC13D</italic> gene from a patient with hemophagocytic lymphohistiocytosis: a case report.

Published in:

2018

By:

Hu, Xijiang;
Liu, Dongling;
Jiang, Xiwen;
Gao, Bo;
Chen, Changying

Publication type:

Case Study

The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0598-5

By:

Hofrichter, Michaela A. H.;
Doll, Julia;
Haaf, Thomas;
Vona, Barbara;
Dittrich, Marcus;
Hosseini, Neda Sadat;
Mojarad, Majid;
Eslahi, Atiye;
Grimm, Clemens;
Rajati, Mohsen;
Müller, Tobias;
Maroofian, Reza

Publication type:

Article

Cortical atrophy and hypofibrinogenemia due to <italic>FGG</italic> and <italic>TBCD</italic> mutations in a single family: a case report.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0597-6

By:

Stephen, Joshi;
Nampoothiri, Sheela;
Vinayan, K. P.;
Yesodharan, Dhanya;
Remesh, Preetha;
Gahl, William A.;
Malicdan, May Christine V.

Publication type:

Article

Novel aggrecan variant, p. Gln2364Pro, causes severe familial nonsyndromic adult short stature and poor growth hormone response in Chinese children.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0591-z

By:

Xu, Dandan;
Sun, Chengjun;
Zhou, Zeyi;
Wu, Bingbing;
Yang, Lin;
Chang, Zhuo;
Zhang, Miaoying;
Xi, Li;
Cheng, Ruoqian;
Ni, Jinwen;
Luo, Feihong

Publication type:

Article

Genome-wide association study identified ATP6V1H locus influencing cerebrospinal fluid BACE activity.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0603-z

By:

Hu, Hao;
Li, Haiyan;
Li, Jieqiong;
Yu, Jintai;
Tan, Lan;
Alzheimer's Disease Neuroimaging Initiative

Publication type:

Article

Possible association between ABCC8 C49620T polymorphism and type 2 diabetes in a Nigerian population.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0601-1

By:

Engwa, Godwill Azeh;
Nwalo, Friday Nweke;
Chikezie, Claribel Chidimma;
Onyia, Christie Oby;
Ojo, Opeolu Oyejide;
Mbacham, Wilfred Fon;
Ubi, Benjamin Ewa

Publication type:

Article

Mutation analysis of <italic>SLC26A4</italic> (Pendrin) gene in a Brazilian sample of hearing-impaired subjects.

Published in:

2018

By:

Nonose, Renata Watanabe;
Lezirovitz, Karina;
de Mello Auricchio, Maria Teresa Balester;
Batissoco, Ana Carla;
Yamamoto, Guilherme Lopes;
Mingroni-Netto, Regina Célia

Publication type:

Abstract

Next-generation sequencing reveals a new mutation in the <italic>LTBP2</italic> gene associated with microspherophakia in a Spanish family.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0590-0

By:

Alías, Laura;
Crespi, Jaume;
González-Quereda, Lidia;
Téllez, Jesús;
Martínez, Elisabeth;
Bernal, Sara;
Gallano, Ma Pia

Publication type:

Article

Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies.

Published in:

2018

By:

Jorge, Paula;
Garcia, Elsa;
Gonçalves, Ana;
Marques, Isabel;
Maia, Nuno;
Rodrigues, Bárbara;
Santos, Helena;
Fonseca, Jacinta;
Soares, Gabriela;
Correia, Cecília;
Reis-Lima, Margarida;
Cirigliano, Vincenzo;
Santos, Rosário

Publication type:

Case Study

Case report of a novel homozygous splice site mutation in <italic>PLA2G6</italic> gene causing infantile neuroaxonal dystrophy in a Sudanese family.

Published in:

2018

By:

Elsayed, Liena E. O.;
Mohammed, Inaam N.;
Hamed, Ahlam A. A.;
Elseed, Maha A.;
Salih, Mustafa A. M.;
Yahia, Ashraf;
Siddig, Rayan A.;
Amin, Mutaz;
Koko, Mahmoud;
Elbashir, Mustafa I.;
Ibrahim, Muntaser E.;
Brice, Alexis;
Ahmed, Ammar E.;
Stevanin, Giovanni

Publication type:

Case Study

Genome-wide association studies for diabetic macular edema and proliferative diabetic retinopathy.

Published in:

2018

By:

Graham, Patricia S.;
Kaidonis, Georgia;
Abhary, Sotoodeh;
Gillies, Mark C.;
Daniell, Mark;
Essex, Rohan W.;
Chang, John H.;
Lake, Stewart R.;
Pal, Bishwanath;
Jenkins, Alicia J.;
Hewitt, Alex W.;
Lamoureux, Ecosse L.;
Hykin, Philip G.;
Petrovsky, Nikolai;
Brown, Matthew A.;
Craig, Jamie E.;
Burdon, Kathryn P.

Publication type:

Abstract

A case of Raine syndrome presenting with facial dysmorphy and review of literature.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0593-x

By:

Sheth, Jayesh;
Bhavsar, Riddhi;
Gandhi, Ajit;
Sheth, Frenny;
Pancholi, Dhairya

Publication type:

Article