Works matching DE "RECESSIVE genes"

Results: 2109

Revealing Molecular Diagnosis With Whole Exome Sequencing in Patients With Inherited Retinal Disorders.

Published in:

Clinical Genetics, 2025, v. 108, n. 1, p. 14, doi. 10.1111/cge.14708

By:

Yavas, Cuneyd;
Arvas, Yunus Emre;
Dogan, Mustafa;
Gezdirici, Alper;
Aslan, Elif Sibel;
Karapapak, Murat;
Barıs, Savas;
Eroz, Recep

Publication type:

Article

Clinical application of preimplantation genetic testing based on low-coverage next-generation sequencing with linkage analyses in hereditary hearing loss families.

Published in:

Journal of Assisted Reproduction & Genetics, 2025, v. 42, n. 6, p. 1989, doi. 10.1007/s10815-025-03504-7

By:

Wang, Wenjing;
Guan, Jing;
Ma, Minyue;
Wu, Xiaonan;
Zhou, Rui;
Ji, Wenkai;
Dou, Manman;
Zhao, Xiaohui;
Chen, Guohui;
Lan, Lan;
Sun, Jian;
Gao, Yuan;
Peng, Hongmei;
Wang, Qiuju

Publication type:

Article

小麦骨干亲本周8425B 衍生品种 (系) 春化和光周期基因的组成分析.

Published in:

Journal of Henan Agricultural Sciences, 2025, v. 54, n. 5, p. 23, doi. 10.15933/j.cnki.1004-3268.2025.05.003

By:

李晓德;
柏心彤;
吴恩召;
吕春蕾;
陈树林;
殷贵鸿;
王道文;
张坤普

Publication type:

Article

Non‐Syndromic Congenital Sodium Diarrhoea With a SLC9A3 Gene Variant: A Case Report.

Published in:

Journal of Paediatrics & Child Health, 2025, v. 61, n. 7, p. 1138, doi. 10.1111/jpc.70067

By:

Yilmaz Dagli, Hatice;
Özkan Zarif, Nurten;
Çelik, Kıymet;
Arayici, Sema;
Ongun, Hakan;
Artan, Reha;
Mendilcioğlu, İbrahim İnanç

Publication type:

Article

Many Ribosomal Protein Genes Are Cancer Genes in Zebrafish.

Published in:

PLoS Biology, 2004, v. 2, n. 5, p. 1, doi. 10.1371/journal.pbio.0020139

By:

Amsterdam, Adam;
Sadler, Kirsten C;
Lai, Kevin;
Farrington, Sarah;
Bronson, Roderick T;
Lees, Jacqueline A;
Hopkins, Nancy

Publication type:

Article

CARD9 Deficiency in a Chinese Man with Cutaneous Mucormycosis, Recurrent Deep Dermatophytosis and a Review of the Literature.

Published in:

Mycopathologia, 2020, v. 185, n. 6, p. 1041, doi. 10.1007/s11046-020-00487-0

By:

Wang, Xiaopo;
Ding, Hui;
Chen, Zhiming;
Zeng, Xuesi;
Sun, Jianfang;
Chen, Hao;
Fu, Meihua

Publication type:

Article

Several genetic variants associated with systemic sclerosis in a Chinese Han population.

Published in:

Clinical Rheumatology, 2023, v. 42, n. 3, p. 773, doi. 10.1007/s10067-022-06409-3

By:

Liu, Chenxi;
Yan, Songxin;
Chen, Haizhen;
Wu, Ziyan;
Li, Liubing;
Li, Yongzhe

Publication type:

Article

The correlation between rs2501577 gene polymorphism and biliary atresia: a systematic review and meta-analysis.

Published in:

Pediatric Surgery International, 2023, v. 39, n. 1, p. 1, doi. 10.1007/s00383-023-05491-1

By:

Li, Teng-Fei;
Ke, Xing-Yuan;
Zhang, Yan-Ran;
Zhan, Jiang-Hua

Publication type:

Article

The G178A polymorphic variant of INSL3 may be linked to cryptorchidism among Egyptian pediatric cohort.

Published in:

Pediatric Surgery International, 2020, v. 36, n. 11, p. 1387, doi. 10.1007/s00383-020-04735-8

By:

Abou EL-Ella, Sohier S.;
Tawfik, Maha Atef;
Abd El-Aziz, Tamer Fakhry;
Shalaby, Ahmed Mohammed Ahmed;
Barseem, Naglaa Fathy

Publication type:

Article

N-degron-mediated degradation and regulation of mitochondrial PINK1 kinase.

Published in:

Current Genetics, 2020, v. 66, n. 4, p. 693, doi. 10.1007/s00294-020-01062-2

By:

Eldeeb, Mohamed A.;
Ragheb, Mohamed A.

Publication type:

Article

Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta.

Published in:

Fetal Diagnosis & Therapy, 2024, v. 51, n. 3, p. 285, doi. 10.1159/000536324

By:

Senturk, Leyli;
Gulec, Cagri;
Sarac Sivrikoz, Tugba;
Kayserili, Hulya;
Kalelioglu, Ibrahim Halil;
Avci, Sahin;
Has, Recep;
Coucke, Paul;
Kalayci, Tugba;
Wollnik, Bernd;
Karaman, Birsen;
Toksoy, Guven;
Symoens, Sofie;
Yigit, Gokhan;
Yuksel, Atil;
Basaran, Seher;
Tuysuz, Beyhan;
Altunoglu, Umut;
Uyguner, Zehra Oya

Publication type:

Article

A simple strategy for managing many recessive disorders in a dairy cattle breeding program.

Published in:

Genetics Selection Evolution, 2015, v. 47, p. 1, doi. 10.1186/s12711-015-0174-9

By:

Cole, John B.

Publication type:

Article

Inheritance of Resistance to Sorghum Downy Mildew Disease in Maize.

Published in:

Journal of Current Crop Science & Technology, 2022, v. 109, n. 7-9, p. 1, doi. 10.29321/MAJ.10.000670

By:

S., Arulselvi

Publication type:

Article

谷子高产育种——从主粮株型育种谈起.

Published in:

Journal of Shanxi Agricultural Sciences, 2023, v. 51, n. 10, p. 1121, doi. 10.3969/j.issn.1002-2481.2023.10.02

By:

王拴锁;
徐晨阳;
陈佳;
宋惠霞

Publication type:

Article

Protein expression, crystallization and in-silico studies on cytochrome P450 Oxidoreductase wildtype and mutant variants.

Published in:

Journal of Research in Pharmacy, 2024, v. 28, n. 2, p. 560, doi. 10.29228/jrp.718

By:

SHAFQAT, Naeem;
AMDANI, Siti Nornadhirah;
Long Chiau MING

Publication type:

Article

SEC24D depletion induces osteogenic differentiation deficiency by inactivating the ATF6/TGF-β/Runx2 regulatory loop.

Published in:

Communications Biology, 2025, v. 8, n. 1, p. 1, doi. 10.1038/s42003-025-08175-9

By:

Zhang, Jing;
Yang, Kai;
Chen, Wen-qi;
Sun, Dong-lan;
Hu, Hua-ying;
Li, Qian;
Yan, You-sheng;
Li, Ya-zhou;
Yin, Cheng-hong;
Guo, Qing

Publication type:

Article

小麦矮秆小粒突变体 smk56 表型分析与基因初步定位.

Published in:

Journal of Henan Agricultural Sciences, 2025, v. 54, n. 2, p. 26, doi. 10.15933/j.cnki.1004-3268.2025.02.003

By:

张福彦;
孙丛苇;
陈晓杰;
王嘉欢;
程仲杰;
赵婉;
马旭辉;
张建伟;
范家霖

Publication type:

Article

香菇原生质体单核化过程中细胞核相对优势等级的研究.

Published in:

Mycosystema, 2023, v. 42, n. 1, p. 187, doi. 10.13346/j.mycosystema.220441

By:

姜珊;
明鹏辉;
杨瑞恒;
汪滢;
侯娣;
余梅;
鲍大鹏

Publication type:

Article

Wilms tumor (nephroblastoma) – clinical and genetic aspects.

Published in:

Nowotwory, 2022, v. 72, n. 4, p. 259, doi. 10.5603/NJO.2022.0040

By:

Janeczko-Czarnecka, Małgorzata;
Ślęzak, Ryszard;
Pietras, Wojciech;
Kiliś-Pstrusińska, Katarzyna

Publication type:

Article

Clinical Characteristics and Audiological Profiles of Patients with Pathogenic Variants of WFS1.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 16, p. 4851, doi. 10.3390/jcm13164851

By:

Jung, Joonho;
Jang, Seung Hyun;
Won, Dongju;
Gee, Heon Yung;
Choi, Jae Young;
Jung, Jinsei

Publication type:

Article

Comparison of The Results of Sponsored Genetic Testing Panels for Inherited Retinal Diseases.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 11, p. 3118, doi. 10.3390/jcm13113118

By:

Bao, Yicheng K.;
Situ, Betty A.;
Runner, Margaret;
Moshfeghi, Andrew;
Ameri, Hossein

Publication type:

Article

Autosomal Dominant Retinitis Pigmentosa Secondary to TOPORS Mutations: A Report of a Novel Mutation and Clinical Findings.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 5, p. 1498, doi. 10.3390/jcm13051498

By:

Eid, Alen T.;
Eid, Kevin Toni;
Odom, James Vernon;
Hinkle, David;
Leys, Monique

Publication type:

Article

Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier Disease.

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 7, p. 2596, doi. 10.3390/jcm12072596

By:

Barbosa-Gouveia, Sofía;
Fernández-Crespo, Silvia;
Lazaré-Iglesias, Héctor;
González-Quintela, Arturo;
Vázquez-Agra, Néstor;
Hermida-Ameijeiras, Álvaro

Publication type:

Article

Identification of Novel Risk Variants of Non-Syndromic Cleft Palate by Targeted Gene Panel Sequencing.

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 5, p. 2051, doi. 10.3390/jcm12052051

By:

Dąbrowska, Justyna;
Biedziak, Barbara;
Bogdanowicz, Agnieszka;
Mostowska, Adrianna

Publication type:

Article

A Prospective Study of Genetic Variants in Infants with Congenital Unilateral Sensorineural Hearing Loss.

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 2, p. 495, doi. 10.3390/jcm12020495

By:

Johansson, Marlin;
Karltorp, Eva;
Asp, Filip;
Berninger, Erik

Publication type:

Article

Novel Candidate Genes for Non-Syndromic Tooth Agenesis Identified Using Targeted Next-Generation Sequencing.

Published in:

Journal of Clinical Medicine, 2022, v. 11, n. 20, p. 6089, doi. 10.3390/jcm11206089

By:

Biedziak, Barbara;
Firlej, Ewa;
Dąbrowska, Justyna;
Bogdanowicz, Agnieszka;
Zadurska, Małgorzata;
Mostowska, Adrianna

Publication type:

Article

Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants.

Published in:

Journal of Clinical Medicine, 2022, v. 11, n. 7, p. 1837, doi. 10.3390/jcm11071837

By:

Kraatari-Tiri, Minna;
Haanpää, Maria K.;
Willberg, Tytti;
Pohjola, Pia;
Keski-Filppula, Riikka;
Kuismin, Outi;
Moilanen, Jukka S.;
Häkli, Sanna;
Rahikkala, Elisa

Publication type:

Article

Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations.

Published in:

Journal of Clinical Medicine, 2022, v. 11, n. 1, p. 22, doi. 10.3390/jcm11010022

By:

Bermejo-Guerrero, Laura;
de Fuenmayor-Fernández de la Hoz, Carlos Pablo;
Serrano-Lorenzo, Pablo;
Blázquez-Encinar, Alberto;
Gutiérrez-Gutiérrez, Gerardo;
Martínez-Vicente, Laura;
Galán-Dávila, Lucía;
García-García, Jorge;
Arenas, Joaquín;
Muelas, Nuria;
Hernández-Laín, Aurelio;
Domínguez-González, Cristina;
Martín, Miguel A.

Publication type:

Article

Combination Therapy with Nusinersen and Onasemnogene Abeparvovec-xioi in Spinal Muscular Atrophy Type I.

Published in:

Journal of Clinical Medicine, 2021, v. 10, n. 23, p. 5540, doi. 10.3390/jcm10235540

By:

Mirea, Andrada;
Shelby, Elena-Silvia;
Axente, Mihaela;
Badina, Mihaela;
Padure, Liliana;
Leanca, Madalina;
Dima, Vlad;
Sporea, Corina

Publication type:

Article

Cohen Syndrome Patient iPSC-Derived Neurospheres and Forebrain-Like Glutamatergic Neurons Reveal Reduced Proliferation of Neural Progenitor Cells and Altered Expression of Synapse Genes.

Published in:

Journal of Clinical Medicine, 2020, v. 9, n. 6, p. 1886, doi. 10.3390/jcm9061886

By:

Lee, You-Kyung;
Hwang, Su-Kyeong;
Lee, Soo-Kyung;
Yang, Jung-eun;
Kwak, Ji-Hye;
Seo, Hyunhyo;
Ahn, Hyunjun;
Lee, Yong-Seok;
Kim, Janghwan;
Lim, Chae-Seok;
Kaang, Bong-Kiun;
Lee, Jae-Hyung;
Lee, Jin-A;
Lee, Kyungmin

Publication type:

Article

Cochlear Implantation Outcome in Children with DFNB1 locus Pathogenic Variants.

Published in:

Journal of Clinical Medicine, 2020, v. 9, n. 1, p. 228, doi. 10.3390/jcm9010228

By:

Oziębło, Dominika;
Obrycka, Anita;
Lorens, Artur;
Skarżyński, Henryk;
Ołdak, Monika

Publication type:

Article

Morphogenetic Variability and Hypertension in Ischemic Stroke Patients—Preliminary Study.

Published in:

Journal of Clinical Medicine, 2018, v. 7, n. 7, p. 162, doi. 10.3390/jcm7070162

By:

Savic, Milan;
Cvjeticanin, Suzana;
Lazovic, Milica;
Nikcevic, Ljubica;
Nikolic, Dejan

Publication type:

Article

Hydrocephalic Monster in a non Descript Buffalo.

Published in:

Indian Journal of Veterinary Sciences & Biotechnology, 2018, v. 14, n. 2, p. 76, doi. 10.21887/ijvsbt.14.2.20

By:

Patil, A. D.;
Lakde, C. K.;
Sahatpure, S. K.;
Chandini;
Kamaljit

Publication type:

Article

A dairy calf DNA biobank for the discovery of new recessive genetic disorders.

Published in:

2017

By:

Cole, J. B.

Publication type:

Abstract

Impact of alternative definitions of contemporary groups on genetic evaluations of traits recorded at lambing.

Published in:

Journal of Animal Science, 2017, v. 95, n. 5, p. 1926, doi. 10.2527/jas.2016.1344

By:

Mchugh, N.;
Pabiou, T.;
Wall, E.;
Mcdermott, K.;
Berry, D. P.

Publication type:

Article

Quantifying the impact of multiple independent heterozygous loci on survival.

Published in:

Journal of Animal Science, 2006, v. 84, p. 274

By:

Adams, H. A.;
Shanks, R. D.

Publication type:

Article

De Novo GRID2 Variant as a Cause of Ataxia with Oculomotor Apraxia and Alpha-Fetoprotein Elevation.

Published in:

2024

By:

Sartorelli, Jacopo;
Travaglini, Lorena;
Colona, Vito Luigi;
Casali, Carlo;
Cumbo, Francesca;
D'Amico, Adele;
Longo, Daniela;
Novelli, Antonio;
Vasco, Gessica;
Bertini, Enrico;
Nicita, Francesco

Publication type:

Case Study

Pseudodominance in RFC1-Spectrum Disorder.

Published in:

Cerebellum, 2024, v. 23, n. 6, p. 2622, doi. 10.1007/s12311-024-01735-5

By:

Falcone, Grazia Maria Igea;
Tessa, Alessandra;
Arena, Ignazio Giuseppe;
Barghigiani, Melissa;
Migliorato, Alba;
Incensi, Alex;
Rodolico, Carmelo;
Donadio, Vincenzo;
Santorelli, Filippo Maria;
Musumeci, Olimpia

Publication type:

Article

Disproportionate Expression of ATM in Cerebellar Cortex During Human Neurodevelopment.

Published in:

Cerebellum, 2024, v. 23, n. 2, p. 502, doi. 10.1007/s12311-023-01560-2

By:

Deacon, Simon;
Dalleywater, William;
Peat, Charles;
Paine, Simon M. L.;
Dineen, Rob A.

Publication type:

Article

TSEN54 Gene-Related Pontocerebellar-Hypoplasia and Role of Prenatal MR Imaging: Besides the Common Posterior Fossa Cystic Malformations.

Published in:

Cerebellum, 2023, v. 22, n. 5, p. 1023, doi. 10.1007/s12311-022-01457-6

By:

Tortora, Mario;
Spaccini, Luigina;
Lanna, Mariano;
Zambon, Marta;
Izzo, Giana;
Parazzini, Cecilia;
Righini, Andrea

Publication type:

Article

Autosomal Recessive Cerebellar Ataxia Type 1: Phenotypic and Genetic Correlation in a Cohort of Chinese Patients with SYNE1 Variants.

Published in:

Cerebellum, 2021, v. 20, n. 1, p. 74, doi. 10.1007/s12311-020-01186-8

By:

Duan, Xiaohui;
Hao, Ying;
Cao, Zhenhua;
Zhou, Chao;
Zhang, Jin;
Wang, Renbin;
Sun, Shaojie;
Gu, Weihong

Publication type:

Article

Clinical and Genetic Characterization of Autosomal Recessive Spinocerebellar Ataxia Type 16 (SCAR16) in Taiwan.

Published in:

Cerebellum, 2020, v. 19, n. 4, p. 544, doi. 10.1007/s12311-020-01136-4

By:

Chiu, Hsu-Huai;
Hsaio, Cheng-Tsung;
Tsai, Yu-Shuen;
Liao, Yi-Chu;
Lee, Yi-Chung;
Soong, Bing-Wen

Publication type:

Article

Genetic Analysis of Hereditary Ataxias in Peru Identifies SCA10 Families with Incomplete Penetrance.

Published in:

Cerebellum, 2020, v. 19, n. 2, p. 208, doi. 10.1007/s12311-019-01098-2

By:

Cornejo-Olivas, Mario;
Inca-Martinez, Miguel;
Castilhos, Raphael Machado;
Furtado, Gabriel Vasata;
Mattos, Eduardo Preusser;
Bampi, Giovana Bavia;
Leistner-Segal, Sandra;
Marca, Victoria;
Mazzetti, Pilar;
Saraiva-Pereira, Maria Luiza;
Jardim, Laura Bannach

Publication type:

Article

Novel ATM Gene c.5644 C > T (p.Arg1882*) Variant Detected in a Patient with Pancreatic Adenocarcinoma and Two Primary Non-Small Cell Lung Adenocarcinomas: A Case Report.

Published in:

Diseases, 2022, v. 10, n. 4, p. 115, doi. 10.3390/diseases10040115

By:

Aljamal, Abed A.;
Elajami, Mohamad K.;
Mansour, Ephraim H.;
Bahmad, Hisham F.;
Medina, Ana Maria;
Cusnir, Mike

Publication type:

Article

Mitochondrial ROS Triggers KIN Pathogenesis in FAN1-Deficient Kidneys.

Published in:

Antioxidants, 2023, v. 12, n. 4, p. 900, doi. 10.3390/antiox12040900

By:

Airik, Merlin;
Arbore, Haley;
Childs, Elizabeth;
Huynh, Amy B.;
Phua, Yu Leng;
Chen, Chi Wei;
Aird, Katherine;
Bharathi, Sivakama;
Zhang, Bob;
Conlon, Peter;
Kmoch, Stanislav;
Kidd, Kendrah;
Bleyer, Anthony J.;
Vockley, Jerry;
Goetzman, Eric;
Wipf, Peter;
Airik, Rannar

Publication type:

Article

A genetic survey of patients with familial idiopathic intracranial hypertension residing in a Middle Eastern village: genetic association study.

Published in:

European Journal of Medical Research, 2024, v. 29, n. 1, p. 1, doi. 10.1186/s40001-024-01800-z

By:

Berkowitz, Eran;
Falik Zaccai, Tzipora C.;
Irge, Dana;
Gur, Inbar;
Tiosano, Beatrice;
Kesler, Anat

Publication type:

Article

Association of the Interleukin-10-592C/A Polymorphism and Cervical Cancer Risk: A Meta-Analysis.

Published in:

Genetics Research, 2022, p. 1, doi. 10.1155/2022/2319161

By:

Diakite, Brehima;
Kassogue, Yaya;
Maiga, Mamoudou;
Dolo, Guimogo;
Kassogue, Oumar;
Musa, Jonah;
Morhason-Bello, Imran;
Traore, Ban;
Traore, Cheick Bougadari;
Kamate, Bakarou;
Coulibaly, Aissata;
Bah, Sekou;
Nadifi, Sellama;
Murphy, Robert;
Holl, Jane L.;
Hou, Lifang

Publication type:

Article

Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH).

Published in:

Genetics Research, 2018, v. 100, p. 1, doi. 10.1017/S0016672318000046

By:

Naveed, Muhammad;
Kazmi, Syeda Khushbakht;
Amin, Mariyam;
Asif, Zainab;
Islam, Ushna;
Shahid, Kinza;
Tehreem, Sana

Publication type:

Article

Microcephaly-associated protein WDR62 shuttles from the Golgi apparatus to the spindle poles in human neural progenitors.

Published in:

eLife, 2023, p. 1, doi. 10.7554/eLife.81716

By:

Dell'Amico, Claudia;
Salavarria, Marilyn M. Angulo;
Yutaka Takeo;
Ichiko Saotome;
Dell'Anno, Maria Teresa;
Galimberti, Maura;
Pellegrino, Enrica;
Cattaneo, Elena;
Louvi, Angeliki;
Onorati, Marco

Publication type:

Article

Extender dark brings good results for short term but is a bad perspective for the artificial selection of Transylvanian Giant Rabbits.

Published in:

Rabbit Genetics, 2016, v. 6, n. 1, p. 1

By:

Oroian, F. Camelia;
Balint, Claudia;
Gavriloaie, Claudiu

Publication type:

Article