Works about GENETIC carriers

Results: 2006

Chromosome Image Classification Based on Improved Differentiable Architecture Search.

Published in:

Electronics (2079-9292), 2025, v. 14, n. 9, p. 1820, doi. 10.3390/electronics14091820

By:

Li, Jianming;
Zeng, Changchang;
Zhou, Min;
Shang, Zeyi;
Zhu, Jiangang

Publication type:

Article

شناسایی جهش بیماری زا 286dupA. در ژن TYR در یک فرد مبتلا به زالی پوستی چشمی با استفاده از روش توالی یابی اگزوم.

Published in:

Arak Medical University Journal, 2025, v. 28, n. 1, p. 78, doi. 10.61186/jams.28.1.78

By:

پرتو حکمت پو;
پرنیان حکمت پو;
فریده جلالی مشای;
سحر بیات;
میلاد غلامی

Publication type:

Article

"It seems enormously valuable to me." Perspectives of Dutch (potential) carriers of genetic FTD on onset-predictive biomarker testing.

Published in:

Alzheimer's Research & Therapy, 2025, v. 17, n. 1, p. 1, doi. 10.1186/s13195-025-01749-z

By:

Graafland, Charlotte H.;
Seelaar, Harro;
Panman, Jessica L.;
Jiskoot, Lize C.;
Kleefstra, Tjitske;
Poos, Jackie M.;
Richard, Edo;
Schermer, Maartje H.N.;
van Swieten, John C.;
Donker Kaat, Laura;
Bunnik, Eline M.

Publication type:

Article

The role of polygenic susceptibility to obesity among carriers of pathogenic mutations in MC4R in the UK Biobank population.

Published in:

2020

By:

Chami, Nathalie;
Preuss, Michael;
Walker, Ryan W.;
Moscati, Arden;
Loos, Ruth J. F.

Publication type:

journal article

A Widespread Chromosomal Inversion Polymorphism Contributes to a Major Life-History Transition, Local Adaptation, and Reproductive Isolation.

Published in:

PLoS Biology, 2010, v. 8, n. 9, p. 1, doi. 10.1371/journal.pbio.1000500

By:

Lowry, David B.;
Willis, John H.

Publication type:

Article

Sex Determination in Honeybees: Two Separate Mechanisms Induce and Maintain the Female Pathway.

Published in:

PLoS Biology, 2009, v. 7, n. 10, p. 1, doi. 10.1371/journal.pbio.1000222

By:

Gempe, Tanja;
Hasselmann, Martin;
Schiøtt, Morten;
Hause, Gerd;
Otte, Marianne;
Beye, Martin

Publication type:

Article

Breast cancer genetics and risk assessment: an overview for the clinician.

Published in:

Climacteric, 2023, v. 26, n. 3, p. 229, doi. 10.1080/13697137.2023.2184254

By:

Larkin, L.

Publication type:

Article

An Iranian family with azoospermia and premature ovarian insufficiency segregating NR5A1 mutation.

Published in:

Climacteric, 2014, v. 17, n. 3, p. 301, doi. 10.3109/13697137.2013.847079

By:

Safari, S.;
Zare-Abdollahi, D.;
Mirfakhraie, R.;
Ghafouri-Fard, S.;
Pouresmaeili, F.;
Movafagh, A.;
Omrani, M. D.

Publication type:

Article

Reduced memory in fat mass and obesity-associated allele carriers among older adults with cardiovascular disease.

Published in:

Psychogeriatrics, 2013, v. 13, n. 1, p. 35, doi. 10.1111/j.1479-8301.2012.00424.x

By:

ALOSCO, Michael L.;
BENITEZ, Andreana;
GUNSTAD, John;
SPITZNAGEL, Mary Beth;
MCCAFFERY, Jeanne M.;
MCGEARY, John E.;
POPPAS, Athena;
PAUL, Robert H.;
SWEET, Lawrence H.;
COHEN, Ronald A.

Publication type:

Article

Prenatal and preconception population carrier screening for cystic fibrosis in Australia: Where are we up to?

Published in:

Australian & New Zealand Journal of Obstetrics & Gynaecology, 2014, v. 54, n. 6, p. 503, doi. 10.1111/ajo.12255

By:

Massie, John;
Ioannou, Liane;
Delatycki, Martin

Publication type:

Article

Nano-Self-Assembly of Nucleic Acids Capable of Transfection without a Gene Carrier.

Published in:

Advanced Functional Materials, 2015, v. 25, n. 34, p. 5445, doi. 10.1002/adfm.201502067

By:

Lim, Kwang Suk;
Lee, Daniel Y.;
Valencia, Gabriel M.;
Won, Young‐Wook;
Bull, David A.

Publication type:

Article

Gene Delivery: Nano-Self-Assembly of Nucleic Acids Capable of Transfection without a Gene Carrier (Adv. Funct. Mater. 34/2015).

Published in:

Advanced Functional Materials, 2015, v. 25, n. 34, p. 5444, doi. 10.1002/adfm.201570229

By:

Lim, Kwang Suk;
Lee, Daniel Y.;
Valencia, Gabriel M.;
Won, Young‐Wook;
Bull, David A.

Publication type:

Article

A new gene controlling hybrid sterility between Oryza sativa and Oryza longistaminata.

Published in:

Euphytica, 2012, v. 187, n. 3, p. 339, doi. 10.1007/s10681-012-0691-3

By:

Zhao, Jiying;
Li, Jing;
Xu, Peng;
Zhou, Jiawu;
Hu, Fengyi;
Deng, Xianneng;
Deng, Wei;
Tao, Dayun

Publication type:

Article

Confirmation and characterization of interspecific hybrids of Passiflora L. (Passifloraceae) for ornamental use.

Published in:

Euphytica, 2012, v. 184, n. 3, p. 389, doi. 10.1007/s10681-011-0607-7

By:

Santos, Eileen;
Souza, Margarete;
Abreu, Priscilla;
da Conceição, Leo;
Araújo, Ioná;
Viana, Alexandre;
Almeida, Alex-Alan;
Freitas, Jôsie

Publication type:

Article

Fine mapping of a major quantitative trait locus, qFLL6.2, controlling flag leaf length and yield traits in rice ( Oryza sativa L.).

Published in:

Euphytica, 2012, v. 184, n. 1, p. 57, doi. 10.1007/s10681-011-0539-2

By:

Shen, Bo;
Yu, Wei-Dong;
Zhu, Yu-Jun;
Fan, Ye-Yang;
Zhuang, Jie-Yun

Publication type:

Article

UGT1A11/28 and 1/ 6 genotypes have no effects on the efficacy and toxicity of FOLFIRI in Japanese patients with advanced colorectal cancer.

Published in:

Cancer Chemotherapy & Pharmacology, 2011, v. 68, n. 2, p. 279, doi. 10.1007/s00280-010-1485-8

By:

Sunakawa, Yu;
Ichikawa, Wataru;
Fujita, Ken-ichi;
Nagashima, Fumio;
Ishida, Hiroo;
Yamashita, Keishi;
Mizuno, Keiko;
Miwa, Keisuke;
Kawara, Kaori;
Akiyama, Yuko;
Araki, Kazuhiro;
Yamamoto, Wataru;
Miya, Toshimichi;
Narabayashi, Masaru;
Ando, Yuichi;
Hirose, Takashi;
Saji, Shigehira;
Sasaki, Yasutsuna

Publication type:

Article

Analysis of compound heterozygotes reveals that the mouse floxed Pax6 allele produces abnormal eye phenotypes.

Published in:

Transgenic Research, 2016, v. 25, n. 5, p. 679, doi. 10.1007/s11248-016-9962-4

By:

Dorà, Natalie;
Crookshanks, Aaron;
Leung, Karen;
Simpson, T.;
Mason, John;
Price, David;
West, John

Publication type:

Article

Classification of Human Metaspread Images Using Convolutional Neural Networks.

Published in:

International Journal of Image & Graphics, 2021, v. 21, n. 3, p. N.PAG, doi. 10.1142/S0219467821500339

By:

Arora, Tanvi

Publication type:

Article

Selective Heterozygous Advantage of Carriers of с.-23+1G>A Mutation in GJB2 Gene Causing Autosomal Recessive Deafness 1A.

Published in:

Bulletin of Experimental Biology & Medicine, 2019, v. 167, n. 3, p. 380, doi. 10.1007/s10517-019-04531-y

By:

Solovyev, A. V.;
Barashkov, N. A.;
Teryutin, F. M.;
Pshennikova, V. G.;
Romanov, G. P.;
Rafailov, A. M.;
Sazonov, N. N.;
Dzhemileva, L. U.;
Tomsky, M. I.;
Posukh, O. L.;
Khusnutdinova, E. K.;
Fedorova, S. A.

Publication type:

Article

Selective Heterozygous Advantage of Carriers of с.-23+1G>A Mutation in GJB2 Gene Causing Autosomal Recessive Deafness 1A.

Published in:

Bulletin of Experimental Biology & Medicine, 2019, v. 166, n. 6, p. 380, doi. 10.1007/s10517-019-04531-y

By:

Solovyev, A. V.;
Barashkov, N. A.;
Teryutin, F. M.;
Pshennikova, V. G.;
Romanov, G. P.;
Rafailov, A. M.;
Sazonov, N. N.;
Dzhemileva, L. U.;
Tomsky, M. I.;
Posukh, O. L.;
Khusnutdinova, E. K.;
Fedorova, S. A.

Publication type:

Article

Cystic fibrosis mutation screening in healthy men with reduced sperm quality.

Published in:

1996

By:

van der Ven, Katrin;
Messer, Lori;
van der Ven, Hans;
Jeyendran, Rajasingam S.;
Ober, Carole;
van der Ven, K;
Messer, L;
van der Ven, H;
Jeyendran, R S;
Ober, C

Publication type:

journal article

Clinical and Molecular Analyses in 8 New Craniofrontonasal Syndrome Families: Revisiting the Mild End of the Phenotypic Spectrum in Females.

Published in:

Turkish Archives of Pediatrics, 2025, v. 60, n. 2, p. 191, doi. 10.5152/TurkArchPediatr.2025.24336

By:

Altunoglu, Umut;
Karaman, Birsen;
Alanay, Yasemin;
Perçin, Ferda;
Uyguner, Zehra Oya;
Kayserili, Hülya

Publication type:

Article

Prediction of More Severe MEFV Gene Mutations in Childhood.

Published in:

Turkish Archives of Pediatrics, 2021, v. 56, n. 6, p. 610, doi. 10.5152/TurkArchPediatr.2021.21147

By:

Güneş-Yılmaz, Seviye;
Kasap-Demir, Belde;
Soyaltın, Eren;
Erfidan, Gökçen;
Özdemir-Şimşek, Özgür;
Arslansoyu-Çamlar, Seçil;
Alaygut, Demet;
Mutlubaş, Fatma

Publication type:

Article

Оцінювання поліморфізму rs1800012 гена COL1A1 й стигм недиференційованої дисплазії сполучної тканини як предикторів пролапсу тазових органів.

Published in:

Reproductive Health of Woman, 2023, v. 68, n. 5, p. 63

By:

Прощенко, О. М.;
Говсєєв, Д. О.

Publication type:

Article

High Population Frequency of GNRHR p.Q106R in Malta: An Evaluation of Fertility and Hormone Profiles in Heterozygotes.

Published in:

Journal of the Endocrine Society, 2024, v. 8, n. 2, p. 1, doi. 10.1210/jendso/bvad172

By:

Axiak, Clayton John;
Pleven, Adrian;
Attard, Ritienne;
Carbott, Francesca Borg;
Ebejer, Jean-Paul;
Brincat, Ian;
Cassar, Karen;
Gruppetta, Mark;
Vassallo, Josanne;
Wettinger, Stephanie Bezzina;
Farrugia, Rosienne

Publication type:

Article

Analiza asocjacji pomiędzy polimorfizmem genu hormonu wzrostu (GH/HaeII) a cechami jakości tuszy wieprzowej i mięsa.

Published in:

Journal of Animal Science Biology & Bioeconomy, 2022, v. 38, n. 2, p. 5, doi. 10.24326/jasbb.2022.2.1

By:

BABICZ, MAREK;
WITKOWSKI, PIOTR;
KROPIWIEC-DOMAŃSKA, KINGA;
ZARAJCZYK, DAMIAN;
SKALSKI, KRZYSZTOF;
WACKO, MARIANNA

Publication type:

Article

Effects of Pregnane X Receptor Genetic Polymorphisms on Stable Warfarin Doses.

Published in:

2015

By:

Jung Yeon Moon;
Byung Chul Chang;
Kyung Eun Lee;
Jun Seok Bang;
Hye Sun Gwak;
Moon, Jung Yeon;
Chang, Byung Chul;
Lee, Kyung Eun;
Bang, Jun Seok;
Gwak, Hye Sun

Publication type:

journal article

MEFV mutations in Iranian Azari Turkish patients with Henoch-Schönlein purpura.

Published in:

Turkish Journal of Medical Sciences, 2016, v. 46, n. 4, p. 967, doi. 10.3906/sag-1505-131

By:

BONYADI, Mortaza;
YOUNESI, Mahdieh;
RAFEEY, Mandana;
SADEGHI SHABESTARI, Mahnaz;
MORTAZAVI, Fakhrossadat

Publication type:

Article

Abnormal craniofacial development and expression patterns of extracellular matrix components in transgenic Del1 mice harboring a deletion mutation in the type II collagen gene.

Published in:

2004

By:

Savontaus, M.;
Rintala-Jämsä, M.;
Morko, J.;
Rönning, O.;
Metsäranta, M.;
Vuorio, E.;
Rintala-Jämsä, M;
Rönning, O;
Metsäranta, M

Publication type:

journal article

Fine mapping of quantitative trait loci for meat color on Sus scrofa chromosome 6: Analysis of the swine NUDT7 gene.

Published in:

Journal of Animal Science, 2010, v. 88, n. 1, p. 23, doi. 10.2527/jas.2009-1814

By:

Taniguchi, M.;
Hayashi, T.;
Nii, M.;
Yamaguchi, T.;
Fujishima-Kanaya, N.;
Awata, T.;
Mikawa, S.

Publication type:

Article

Genetic variation and population structure of Italian native sheep breeds undergoing in situ conservation.

Published in:

Journal of Animal Science, 2009, v. 87, n. 12, p. 3837, doi. 10.2527/jas.2008-1682

By:

Dalvit, C.;
de Marchi, M.;
Zanetti, E.;
Cassandro, M.

Publication type:

Article

Genetic uniqueness of Chinese village pig populations inferred from microsatellite markers'.

Published in:

Journal of Animal Science, 2009, v. 87, n. 11, p. 3445, doi. 10.2527/jas.2008-1632

By:

Fang, M.;
Hu, X.;
Jin, W.;
Li, N.;
Wu, C.

Publication type:

Article

Apolipoprotein ɛ4 Allele and Subjective Cognitive Functioning in Parents of Adults With Disabilities.

Published in:

Journals of Gerontology Series B: Psychological Sciences & Social Sciences, 2020, v. 75, n. 8, p. e189, doi. 10.1093/geronb/gbaa061

By:

Song, Jieun;
Mailick, Marsha R;
Greenberg, Jan S

Publication type:

Article

Natural Populations of Astrocaryum aculeatum Meyer in Amazonia: Genetic Diversity and Conservation.

Published in:

Plants (2223-7747), 2022, v. 11, n. 21, p. 2957, doi. 10.3390/plants11212957

By:

Ramos, Santiago Linorio Ferreyra;
Lopes, Maria Teresa Gomes;
Meneses, Carlos;
Dequigiovanni, Gabriel;
de Macêdo, Jeferson Luis Vasconcelos;
Lopes, Ricardo;
Sebbenn, Alexandre Magno;
da Silva, Rogério Freire;
de Jesus Pinto Fraxe, Therezinha;
Veasey, Elizabeth Ann

Publication type:

Article

Rectifying or Reinforcing? The (In)Equity Implications of Recontacting Practices in Genomic Medicine.

Published in:

Hastings Center Report, 2024, v. 54, p. S22, doi. 10.1002/hast.4926

By:

Mackley, Michael P.;
Faghfoury, Hanna;
Chad, Lauren

Publication type:

Article

Associations between the occurrence of the ACTN3 R577X, ACE I/D, BDKRB2 +9/-9 polymorphisms and anaerobic performance among a group of elite fencers.

Published in:

Physical Activity Review, 2021, v. 9, n. 2, p. 93, doi. 10.16926/par.2021.09.25

By:

Balko, Iva;
Balko, Stefan;
Petr, Miroslav;
Heidler, Josef;
Benesova, Lucie;
Kohlikova, Eva

Publication type:

Article

Siriraj I Gγ(Aγδβ)0-thalassaemia causing severe thalassaemia intermedia in compound heterozygous state with IVS1-1(G→T) mutation.

Published in:

Malaysian Journal of Pathology, 2021, v. 43, n. 1, p. 95

By:

Ying Ying WONG;
ALAUDDIN, Hafiza;
RAJA SABUDIN, Raja Zahratul Azma;
ITHNIN, Azlin;
JALIL, Norunaluwar;
ABDUL LATIFF, Zarina;
C-Khai LOH;
ALIAS, Hamidah;
OTHMAN, Ainoon

Publication type:

Article

Hb lepore/β0-thalassaemia with α+-thalassaemia interactions, a potential diagnostic pitfall.

Published in:

Malaysian Journal of Pathology, 2015, v. 37, n. 3, p. 287

By:

ALAUDDIN, Hafiza;
MOHAMAD NASIR, Suziana;
AHADON, Madzlifah;
RAJA SABUDIN, Raja Zahratul Azma;
ITHNIN, Azlin;
HUSSIN, Noor Hamidah;
ALIAS, Hamidah;
LOH C-Khai;
ABDUL LATIFF, Zarina;
ABDUL MURAD, Nor Azian;
OTHMAN, Ainoon

Publication type:

Article

HbA2 levels in normal, β-thalassaemia and haemoglobin E carriers by capillary electrophoresis.

Published in:

Malaysian Journal of Pathology, 2012, v. 34, n. 2, p. 161

By:

Alauddin, HAFIZA;
Yusoff, MALISA Mohd;
KHIROTDIN, R. D. Aidifitrina;
Ithnin, AZLIN;
AZMA, Raja Zahratul;
Thong, Matthew Chong Kwok;
ALl, Irwan MOHAMAD;
YEOH Zi-Ning;
ISHAK, Lailyvia MOHD;
RADZI, Nur Rabiatuladawiah MOHD;
HUSSIN, Noor Hamidah

Publication type:

Article

Expanding CFTR Modulator Testing to Carriers of CFTR Variants.

Published in:

Annals of the American Thoracic Society, 2021, v. 18, n. 11, p. 1776, doi. 10.1513/AnnalsATS.202011-1397PS

By:

Bratcher, Preston E.;
Zeitlin, Pamela L.

Publication type:

Article

Greater Cognitive Deficits with Sleep-disordered Breathing among Individuals with Genetic Susceptibility to Alzheimer Disease. The Multi-Ethnic Study of Atherosclerosis.

Published in:

2017

By:

Johnson, Dayna A.;
Lane, Jacqueline;
Rui Wang;
Reid, Michelle;
Djonlagic, Ina;
Fitzpatrick, Annette L.;
Rapp, Stephen R.;
Charles, Luenda E.;
O'Hara, Ruth;
Saxena, Richa;
Redline, Susan;
Wang, Rui

Publication type:

journal article

Risk of Lung Disease in PI MZ Heterozygotes. Current Status and Future Research Directions.

Published in:

2016

By:

Silverman, Edwin K.

Publication type:

journal article

Epimutation of MMACHC compound to a genetic mutation in cblC cases.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1625

By:

Zhang, Xiaoman;
Chen, Qiong;
Song, Yinsen;
Guo, Pengbo;
Wang, Yanhong;
Luo, Shuying;
Zhang, Yaodong;
Zhou, Chongchen;
Li, Dongxiao;
Chen, Yongxing;
Wei, Haiyan

Publication type:

Article

Matrilineal analysis of mutations in the DMD gene in a multigenerational South Indian cohort using DMD gene panel sequencing.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 5, p. 1, doi. 10.1002/mgg3.1633

By:

Shastry, Arun;
Aravind, Sankaramoorthy;
Sunil, Meeta;
Ramesh, Keerthi;
Ashley, Berty;
T., Nithyanandan;
Ramprasad, Vedam L.;
Gupta, Ravi;
Seshagiri, Somasekar;
Nongthomba, Upendra;
Phalke, Sameer

Publication type:

Article

A rare gene variation cap +1 (A>C) (HBB: c. −50A>C) associated with codon 5 (‐CT) (HBB: c.17_18delCT) mutation in Syrian family.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1602

By:

Murad, Hossam;
Moassas, Faten;
Fakseh, Nour A. L.

Publication type:

Article

Analyses of del(GJB6‐D13S1830) and del(GJB6‐D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 4, p. 1, doi. 10.1002/mgg3.1171

By:

Pandya, Arti;
O'Brien, Alexander;
Kovasala, Michael;
Bademci, Guney;
Tekin, Mustafa;
Arnos, Kathleen S.

Publication type:

Article

Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil.

Published in:

Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 4, p. 575, doi. 10.1002/mgg3.408

By:

Vieira Neto, Eduardo;
Laranjeira, Francisco;
Quelhas, Dulce;
Ribeiro, Isaura;
Seabra, Alexandre;
Mineiro, Nicole;
d. M. Carvalho, Lilian;
Lacerda, Lúcia;
G. Ribeiro, Márcia

Publication type:

Article

Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 5, p. 580, doi. 10.1002/mgg3.287

By:

Moosa, Shahida;
Altmüller, Janine;
Lyngbye, Troels;
Christensen, Rikke;
Li, Yun;
Nürnberg, Peter;
Yigit, Gökhan;
Vogel, Ida;
Wollnik, Bernd

Publication type:

Article

Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population.

Published in:

Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 3, p. 312, doi. 10.1002/mgg3.206

By:

Triggs‐Raine, Barbara;
Dyck, Tamara;
Boycott, Kym M.;
Innes, A. Micheil;
Ober, Carole;
Parboosingh, Jillian S.;
Botkin, Alexis;
Greenberg, Cheryl R.;
Spriggs, Elizabeth L.

Publication type:

Article

Rare Genetic Variants Associated With Development of Age-Related Macular Degeneration.

Published in:

2016

By:

Saksens, Nicole T. M.;
Geerlings, Maartje J.;
Bakker, Bjorn;
Schick, Tina;
Daha, Mohamed R.;
Fauser, Sascha;
Boon, Camiel J. F.;
de Jong, Eiko K.;
Hoyng, Carel B.;
den Hollander, Anneke I.

Publication type:

journal article