Works matching DE "GENETIC carriers"

Results: 2017

The effect of polygenic risk score on PD risk and phenotype in LRRK2 G2019S and GBA1 carriers.

Published in:

Journal of Parkinson's Disease, 2025, v. 15, n. 2, p. 291, doi. 10.1177/1877718X241310722

By:

Goldstein, Orly;
Shani, Shachar;
Gana-Weisz, Mali;
Elkoshi, Nadav;
Casey, Fergal;
Sun, Yu H;
Chandratre, Khyati;
Cedarbaum, Jesse M;
Blauwendraat, Cornelis;
Bar-Shira, Anat;
Thaler, Avner;
Gurevich, Tanya;
Mirelman, Anat;
Giladi, Nir;
Orr-Urtreger, Avi;
Alcalay, Roy N

Publication type:

Article

Combining Biomarkers with Genetics In Prodromal/Earliest Phase Parkinson's Disease.

Published in:

Journal of Parkinson's Disease, 2024, v. 14, p. S345, doi. 10.3233/JPD-240155

By:

Seibler, Philip;
Streubel-Gallasch, Linn;
Klein, Christine

Publication type:

Article

Cystic Fibrosis and Hemochromatosis Carriers May Be Prone to Glucagon-like Peptide-1 Agonist Pancreatitis: 3 Cases Open Access.

Published in:

JCEM Case Reports, 2025, v. 3, n. 7, p. 1, doi. 10.1210/jcemcr/luaf104

By:

Sydney, Guy Itzhak;
Do, Tammy;
West, William Austin;
Uwaifo, Gabriel Ikponmosa

Publication type:

Article

Exploring mutation carriers' preferences regarding onset and progression of disease predictions for adult-onset genetic neurodegenerative diseases: a qualitative interview study.

Published in:

Human Genetics, 2025, v. 144, n. 6, p. 665, doi. 10.1007/s00439-025-02750-0

By:

Rensink, Max J.;
Schermer, M. H. N.;
Tibben, A.;
Bijlsma, E. K.;
de Bot, S. T.;
Kievit, J. A.;
Bolt, L. L. E.

Publication type:

Article

Associations between Serum Ferritin Levels, Age-stratified Hematological Parameters, and Hemoglobin A<sub>2</sub> Levels in Iraqi Beta Thalassemia Carriers.

Published in:

Journal of Applied Hematology, 2025, v. 16, n. 2, p. 111, doi. 10.4103/joah.joah_49_25

By:

Al-Maaroof, Zainab W.;
Sharifi, Liqaa Mohammed Al

Publication type:

Article

Arterial and Venous Infarcts: Dual Phenotypes of Dual Heterozygous MTHFR Gene Mutation.

Published in:

2025

By:

Kaushal, Himanshu;
Singh, Balveen;
Wangdi, Jigdel Tenzing;
Jain, Anush;
Suri, Kunal

Publication type:

Letter

A heterozygous nonsense mutation in the FGB gene (c.1299G > A) causes congenital fibrinogen disorder across four consecutive generations.

Published in:

Thrombosis Journal, 2025, v. 23, n. 1, p. 1, doi. 10.1186/s12959-025-00746-4

By:

Chen, Wanling;
Hu, Jiasheng

Publication type:

Article

Variation and Inheritance of an Atypical Form of the Anterior Lobe of M<sup>1</sup> of Lemmus trimucronatus chrysogaster (Rodentia, Arvicolinae).

Published in:

Biology Bulletin, 2025, v. 52, n. 3, p. 1, doi. 10.1134/S1062359024612394

By:

Cheprakov, M. I.

Publication type:

Article

Fujian Province β‐Thalassemia: A Molecular and Hematological Study in Southeastern China.

Published in:

Genetics Research, 2025, v. 2025, p. 1, doi. 10.1155/genr/8862095

By:

Zheng, Junhao;
Chen, Meihuan;
Zhang, Siwen;
Lv, Aixiang;
Zhang, Min;
Chen, Lingji;
Lin, Na;
Xu, Liangpu;
Huang, Hailong;
Ahmad, Irfan

Publication type:

Article

Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions.

Published in:

Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-60339-7

By:

Wei, Angela;
Border, Richard;
Fu, Boyang;
Cullina, Sinéad;
Brandes, Nadav;
Jang, Seon-Kyeong;
Sankararaman, Sriram;
Kenny, Eimear E.;
Udler, Miriam S.;
Ntranos, Vasilis;
Zaitlen, Noah;
Arboleda, Valerie A.

Publication type:

Article

Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene.

Published in:

2007

By:

Pearson, Ewan R.;
Boj, Sylvia F.;
Steele, Anna M.;
Barrett, Timothy;
Stals, Karen;
Shield, Julian P.;
Ellard, Sian;
Ferrer, Jorge;
Hattersley, Andrew T.

Publication type:

journal article

Exploring attitudes and experiences with reproductive genetic carrier screening among couples seeking medically assisted reproduction: a longitudinal survey study.

Published in:

Journal of Assisted Reproduction & Genetics, 2024, v. 41, n. 2, p. 451, doi. 10.1007/s10815-023-03010-8

By:

Van Steijvoort, Eva;
Cassou, Mathilde;
De Schutter, Camille;
Dimitriadou, Eftychia;
Peeters, Hilde;
Peeraer, Karen;
Matthijs, Gert;
Borry, Pascal

Publication type:

Article

Preimplantation genetic diagnosis for a carrier with m.3697G > A mitochondrial DNA mutation.

Published in:

Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 12, p. 3251, doi. 10.1007/s10815-021-02354-3

By:

Ji, Dongmei;
Li, Xinyuan;
Pan, Jianxin;
Zong, Kai;
Chen, Dawei;
Marley, Jordan Lee;
Zou, Weiwei;
Deng, Xiaohong;
Cao, Yu;
Zhang, Zhiguo;
Zhou, Ping;
Sha, Hongying;
Cao, Yunxia

Publication type:

Article

Not just carriers: experiences of X-linked female heterozygotes.

Published in:

Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 10, p. 2757, doi. 10.1007/s10815-021-02270-6

By:

Choi, Jennifer;
Kane, Taylor;
Propst, Lauren;
Spencer, Sara;
Kostialik, Jamie;
Arjunan, Aishwarya

Publication type:

Article

Disparities among infertility patients regarding genetic carrier screening, sex selection, and gene editing.

Published in:

Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 9, p. 2319, doi. 10.1007/s10815-021-02261-7

By:

McQueen, Dana B.;
Warren, Christopher M.;
Xiao, Alexander H.;
Shulman, Lee P.;
Jain, Tarun

Publication type:

Article

Clinical outcomes following preimplantation genetic testing and microdissecting junction region in couples with balanced chromosome rearrangement.

Published in:

Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 3, p. 735, doi. 10.1007/s10815-020-02052-6

By:

Cheng, Dehua;
Hu, Liang;
Gong, Fei;
Yuan, Shimin;
Luo, Keli;
Wu, Xianhong;
Xie, Pingyuan;
Lu, Changfu;
Lu, Guangxiu;
Tan, Yue-Qiu;
Lin, Ge

Publication type:

Article

Expanded genetic carrier screening in clinical practice: a current survey of patient impressions and attitudes.

Published in:

Journal of Assisted Reproduction & Genetics, 2019, v. 36, n. 4, p. 709, doi. 10.1007/s10815-019-01414-z

By:

Pereira, Nigel;
Wood, Michelle;
Luong, Emerly;
Briggs, Allison;
Galloway, Michael;
Maxwell, Rose A.;
Lindheim, Steven R.

Publication type:

Article

The impact of RABL2B gene (rs144944885) on human male infertility in patients with oligoasthenoteratozoospermia and immotile short tail sperm defects.

Published in:

Journal of Assisted Reproduction & Genetics, 2017, v. 34, n. 4, p. 505, doi. 10.1007/s10815-016-0863-5

By:

Hosseini, Seyedeh;
Sadighi Gilani, Mohammad;
Meybodi, Anahita;
Sabbaghian, Marjan

Publication type:

Article

Electrical activation of rabbit oocytes increases fertilization and embryo development by intracytoplasmic sperm injection using sperm from deceased male.

Published in:

Journal of Assisted Reproduction & Genetics, 2013, v. 30, n. 12, p. 1605, doi. 10.1007/s10815-013-0113-z

By:

Zhou, Xiaomei;
Yin, Mingru;
Jiang, Weihua;
Jiang, Manxi;
Li, Shangang;
Li, Heping;
Chen, Xuejin

Publication type:

Article

Chromosomal segregation in sperm of Robertsonian translocation carriers.

Published in:

Journal of Assisted Reproduction & Genetics, 2013, v. 30, n. 9, p. 1141, doi. 10.1007/s10815-013-0067-1

By:

Pylyp, Larysa;
Zukin, Valery;
Bilko, Nadiya

Publication type:

Article

Preimplantation genetic diagnosis for α-thalassaemia in China.

Published in:

Journal of Assisted Reproduction & Genetics, 2009, v. 26, n. 7, p. 399, doi. 10.1007/s10815-009-9336-4

By:

Yan-Wen Xu;
Yan-Hong Zeng;
Jie Deng;
Ying Liu;
Ling Gao;
Can-Quan Zhou;
Guang-Lun Zhuang

Publication type:

Article

Preimplantation genetic diagnosis (PGD) for nonsyndromic deafness by polar body and blastomere biopsy.

Published in:

Journal of Assisted Reproduction & Genetics, 2009, v. 26, n. 7, p. 391, doi. 10.1007/s10815-009-9335-5

By:

Altarescu, Gheona;
Eldar-Geva, Talia;
Brooks, Baruch;
Zylber-Haran, Edith;
Varshaver, Irit;
Margalioth, Ehud J.;
Levy-Lahad, Ephrat;
Renbaum, Paul

Publication type:

Article

Improving Access to Expanded Genetic Carrier Screening Through Multimodal Interventions.

Published in:

Journal of Women's Health (15409996), 2025, v. 34, n. 5, p. 606, doi. 10.1089/jwh.2024.0894

By:

Meiss, Lauren N.;
Pathy, Shefali;
Baxley, Sarah E.

Publication type:

Article

Childhood Obesity, Genetic Variation, and Dental Age.

Published in:

Pediatric Dentistry, 2019, v. 41, n. 2, p. 132

By:

Modesto, Adriana;
Jacas, Cristina Armbruster;
Kim, Sohyon (Michelle);
Desman, Alexander;
West, lisa;
Lebow, Molly;
Littlejohn, Caroline;
Deeley, Kathleen;
Studen-Pavlovich, Deborah;
Vieira, Alexandre R.

Publication type:

Article

Unveiling genetic variants: Tetra-primer ARMS-PCR diagnosis and structural insights into BLAD, BC, and DUMPS in Pakistani cattle herds.

Published in:

Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09898-4

By:

Ilyas, Iram;
Nisa, Fakhar un;
Ali, Muhammad Basil;
Arshad, Fazeela;
Irfan, Najida;
Asif, Muhammad;
Amin, Imran

Publication type:

Article

Aneuploidy in spermatids of Robertsonian (Rb) chromosome heterozygous mice.

Published in:

Chromosome Research, 2014, v. 22, n. 4, p. 545, doi. 10.1007/s10577-014-9443-7

By:

Manieu, Catalina;
González, Marisel;
López-Fenner, Julio;
Page, Jesús;
Ayarza, Eliana;
Fernández-Donoso, Raúl;
Berríos, Soledad

Publication type:

Article

Chromosome synapsis and recombination in simple and complex chromosomal heterozygotes of tuco-tuco ( Ctenomys talarum: Rodentia: Ctenomyidae).

Published in:

Chromosome Research, 2014, v. 22, n. 3, p. 351, doi. 10.1007/s10577-014-9429-5

By:

Basheva, Ekaterina;
Torgasheva, Anna;
Gomez Fernandez, Maria;
Boston, Emma;
Mirol, Patricia;
Borodin, Pavel

Publication type:

Article

The frequency of heterologous synapsis increases with aging in Robertsonian heterozygous male mice.

Published in:

Chromosome Research, 2012, v. 20, n. 2, p. 269, doi. 10.1007/s10577-011-9272-x

By:

Vasco, Chiara;
Manterola, Marcia;
Page, Jesus;
Zuccotti, Maurizio;
Fuente, Roberto;
Redi, Carlo;
Fernandez-Donoso, Raul;
Garagna, Silvia

Publication type:

Article

Beneficial effects of romosozumab on bone mineral density and trabecular bone score assessed by dual-energy X-ray absorptiometry in a family with osteogenesis imperfecta.

Published in:

2024

By:

Kusakabe, Toru;
Ishihara, Yuki;
Kitamura, Takuya;
Yasoda, Akihiro;
Nanba, Kazutaka;
Tsuiki, Mika;
Satoh-Asahara, Noriko;
Tagami, Tetsuya

Publication type:

Letter

Variant interpretation in molecular autopsy: a useful dilemma.

Published in:

International Journal of Legal Medicine, 2022, v. 136, n. 2, p. 475, doi. 10.1007/s00414-021-02764-z

By:

Scheiper-Welling, Stefanie;
Tabunscik, Monika;
Gross, Theresa E.;
Jenewein, Tina;
Beckmann, Britt M.;
Niess, Constanze;
Gradhand, Elise;
Wunder, Cora;
Schneider, Peter M.;
Rothschild, Markus A.;
Verhoff, Marcel A.;
Kauferstein, Silke

Publication type:

Article

Characterization of degradation and heterozygote balance by simulation of the forensic DNA analysis process.

Published in:

International Journal of Legal Medicine, 2017, v. 131, n. 2, p. 303, doi. 10.1007/s00414-016-1453-x

By:

Hansson, Oskar;
Egeland, Thore;
Gill, Peter

Publication type:

Article

Brother-sister incest paternity case with the same tri-allelic pattern of parents at D3S1358 locus: a tetra-allelic baby?

Published in:

International Journal of Legal Medicine, 2015, v. 129, n. 3, p. 445, doi. 10.1007/s00414-014-0984-2

By:

Canturk, Kemal;
Emre, Ramazan;
Muslumanoglu, Omer;
Huner, Agah;
Uygun, Hakan;
Bingöl, Arif;
Aksoy, Hüseyin;
Kınoglu, Kubilay

Publication type:

Article

Utility of amplification enhancers in low copy number DNA analysis.

Published in:

International Journal of Legal Medicine, 2015, v. 129, n. 1, p. 43, doi. 10.1007/s00414-014-1021-1

By:

Marshall, Pamela;
King, Jonathan;
Budowle, Bruce

Publication type:

Article

A real-time PCR-based amelogenin Y allele dropout assessment model in gender typing of degraded DNA samples.

Published in:

International Journal of Legal Medicine, 2013, v. 127, n. 1, p. 55, doi. 10.1007/s00414-011-0663-5

By:

Kim, Kyung-Yong;
Kwon, Younghyuk;
Bazarragchaa, Munkhtsetseg;
Park, Ae-Ja;
Bang, Hyowon;
Lee, Won-Bok;
Lee, Junyoung;
Lee, Kwang-Ho;
Kim, Bum-Joon;
Kim, Kijeong

Publication type:

Article

White matter deficits correlate with visual motion perception impairments in dyslexic carriers of the DCDC2 genetic risk variant.

Published in:

Experimental Brain Research, 2021, v. 239, n. 9, p. 2725, doi. 10.1007/s00221-021-06137-1

By:

Perani, Daniela;
Scifo, Paola;
Cicchini, Guido M.;
Rosa, Pasquale Della;
Banfi, Chiara;
Mascheretti, Sara;
Falini, Andrea;
Marino, Cecilia;
Morrone, Maria Concetta

Publication type:

Article

Influences of ABC transporter and CYP3A4/5 genetic polymorphisms on the pharmacokinetics of lenvatinib in Chinese healthy subjects.

Published in:

European Journal of Clinical Pharmacology, 2020, v. 76, n. 8, p. 1125, doi. 10.1007/s00228-020-02879-z

By:

Li, Jiaming;
Wang, Xiaoqian;
Ning, Chen;
Wang, Zhaoyu;
Wang, Yao;
Zheng, Ming;
Zhang, Siliang;
Lu, Yang;
Zhang, Yongjie;
Li, Ning;
Chen, Xijing;
Zhao, Di

Publication type:

Article

Cytochrome P450 2A6 and 2B6 polymorphisms and smoking cessation success in patients treated with varenicline.

Published in:

European Journal of Clinical Pharmacology, 2019, v. 75, n. 11, p. 1541, doi. 10.1007/s00228-019-02731-z

By:

Tomaz, Paulo Roberto Xavier;
Kajita, Mariana Soares;
Santos, Juliana Rocha;
Scholz, Jaqueline;
Abe, Tânia Ogawa;
Gaya, Patrícia Viviane;
Krieger, José Eduardo;
Pereira, Alexandre Costa;
Santos, Paulo Caleb Júnior Lima

Publication type:

Article

N-Acetyltransferase-2 (NAT2) phenotype is influenced by genotype-environment interaction in Ethiopians.

Published in:

European Journal of Clinical Pharmacology, 2018, v. 74, n. 7, p. 903, doi. 10.1007/s00228-018-2448-y

By:

Aklillu, Eleni;
Carrillo, Juan Antonio;
Makonnen, Eyasu;
Bertilsson, Leif;
Djordjevic, Natasa

Publication type:

Article

Effect of CYP3A422, CYP3A53, and CYP3A combined genotypes on tamoxifen metabolism.

Published in:

European Journal of Clinical Pharmacology, 2017, v. 73, n. 12, p. 1589, doi. 10.1007/s00228-017-2323-2

By:

Sanchez Spitman, A.;
Moes, D.;
Gelderblom, H.;
Dezentje, V.;
Swen, J.J.;
Guchelaar, H.

Publication type:

Article

Meta-analysis of effects of ABCB1 polymorphisms on clopidogrel response among patients with coronary artery disease.

Published in:

European Journal of Clinical Pharmacology, 2017, v. 73, n. 7, p. 843, doi. 10.1007/s00228-017-2235-1

By:

Zhai, Yajing;
He, Hairong;
Ma, Xiancang;
Xie, Jiao;
Meng, Ti;
Dong, Yalin;
Lu, Jun

Publication type:

Article

Association between CACNA1C gene polymorphisms and ritodrine-induced adverse events in preterm labor patients.

Published in:

European Journal of Clinical Pharmacology, 2017, v. 73, n. 7, p. 837, doi. 10.1007/s00228-017-2222-6

By:

Baek, Min;
Hwang, Han;
Park, Jin;
Chung, Jee;
Lee, Kyung;
Lee, Gwan;
Seong, Jin;
Yee, Jeong;
Kim, Young;
Gwak, Hye

Publication type:

Article

CYP1A2 genotype affects carbamazepine pharmacokinetics in children with epilepsy.

Published in:

European Journal of Clinical Pharmacology, 2016, v. 72, n. 4, p. 439, doi. 10.1007/s00228-015-2006-9

By:

Djordjevic, Natasa;
Milovanovic, Dragana;
Radovanovic, Marija;
Radosavljevic, Ivan;
Obradovic, Slobodan;
Jakovljevic, Mihajlo;
Milovanovic, Dragan;
Milovanovic, Jasmina;
Jankovic, Slobodan

Publication type:

Article

Population pharmacokinetics and pharmacogenetics of once daily tacrolimus formulation in stable liver transplant recipients.

Published in:

European Journal of Clinical Pharmacology, 2016, v. 72, n. 2, p. 163, doi. 10.1007/s00228-015-1963-3

By:

Moes, D.;
Bent, S.;
Swen, J.;
Straaten, T.;
Inderson, A.;
Olofsen, E.;
Verspaget, H.;
Guchelaar, H.;
Hartigh, J.;
Hoek, B.

Publication type:

Article

Population pharmacokinetics of rosuvastatin in pediatric patients with heterozygous familial hypercholesterolemia.

Published in:

European Journal of Clinical Pharmacology, 2016, v. 72, n. 1, p. 19, doi. 10.1007/s00228-015-1946-4

By:

Macpherson, Merran;
Hamrén, Bengt;
Braamskamp, Marjet;
Kastelein, John;
Lundström, Torbjörn;
Martin, Paul

Publication type:

Article

Genetic and platelet function testing of antiplatelet therapy for percutaneous coronary intervention: the ARCTIC-GENE study.

Published in:

European Journal of Clinical Pharmacology, 2015, v. 71, n. 11, p. 1315, doi. 10.1007/s00228-015-1917-9

By:

Collet, Jean-Philippe;
Hulot, Jean-Sébastien;
Cuisset, Thomas;
Rangé, Grégoire;
Cayla, Guillaume;
Belle, Eric;
Elhadad, Simon;
Rousseau, Hélène;
Sabouret, Pierre;
O'Connor, Stephen;
Abtan, Jérémie;
Kerneis, Mathieu;
Saint-Etienne, Christophe;
Barthélémy, Olivier;
Beygui, Farzin;
Silvain, Johanne;
Vicaut, Eric;
Montalescot, Gilles

Publication type:

Article

Genotypes at rs2844682 and rs3909184 have no clinical value in identifying HLA-B* 15: 02 carriers.

Published in:

2015

By:

Zhu, Guang-dan;
Brenton, Ashley;
Malhotra, Alka;
Riley, Bae;
Church, Katherine;
Espin, Frank;
Moreno, Tanya;
Strickland, Jennifer;
Tredici, Andria

Publication type:

Letter

Influence of CYP2C19 loss-of-function variants on the antiplatelet effects and cardiovascular events in clopidogrel-treated Chinese patients undergoing percutaneous coronary intervention.

Published in:

European Journal of Clinical Pharmacology, 2013, v. 69, n. 4, p. 771, doi. 10.1007/s00228-012-1392-5

By:

Zou, Jian-Jun;
Xie, Hong-Guang;
Chen, Shao-Liang;
Tan, Jie;
Lin, Ling;
Zhao, Ying-Ying;
Xu, Hai-Mei;
Lin, Song;
Zhang, Juan;
Wang, Guang-Ji

Publication type:

Article

Polymorphisms of UGT1A9 and UGT2B7 influence the pharmacokinetics of mycophenolic acid after a single oral dose in healthy Chinese volunteers.

Published in:

European Journal of Clinical Pharmacology, 2013, v. 69, n. 4, p. 843, doi. 10.1007/s00228-012-1409-0

By:

Guo, Dong;
Pang, Liang-Fang;
Han, Yang;
Yang, Hong;
Wang, Guo;
Tan, Zhi-rong;
Zhang, Wei;
Zhou, Hong-Hao

Publication type:

Article

The influence of VKORC1 3730 G > A polymorphism on warfarin dose: reply.

Published in:

2013

By:

Cini, Michela;
Legnani, Cristina;
Cosmi, Benilde;
Guazzaloca, Giuliana;
Valdrè, Lelia;
Frascaro, Mirella;
Palareti, Gualtiero

Publication type:

Letter

Effect of the P450 oxidoreductase *28 polymorphism on the pharmacokinetics of tacrolimus in Chinese healthy male volunteers.

Published in:

European Journal of Clinical Pharmacology, 2013, v. 69, n. 4, p. 807, doi. 10.1007/s00228-012-1432-1

By:

Zhang, Jing-Jing;
Zhang, Hua;
Ding, Xiao-Liang;
Ma, Sheng;
Miao, Li-Yan

Publication type:

Article