Works matching Genetic disorders

Results: 5000

An Innovative Three-Stage Model for Prenatal Genetic Disorder Detection Based on Region-of-Interest in Fetal Ultrasound.

Published in:

Bioengineering (Basel), 2023, v. 10, n. 7, p. 873, doi. 10.3390/bioengineering10070873

By:

Tang, Jiajie;
Han, Jin;
Jiang, Yuxuan;
Xue, Jiaxin;
Zhou, Hang;
Hu, Lianting;
Chen, Caiyuan;
Lu, Long

Publication type:

Article

Effectiveness of Structure Teaching Programme on Knowledge Regarding Genetic Disorders and Attitude Towards Preventive Measures for Genetic Disorders among Undergraduates at Higher Educational Institute.

Published in:

Indian Journal of Public Health Research & Development, 2022, v. 13, n. 3, p. 13, doi. 10.37506/ijphrd.v13i3.18156

By:

Kolage, Ajay;
Autade, Yogita;
Garje, Krishnali

Publication type:

Article

Prevalence of Congenital Ocular Anomalies among Children with Genetic Disorders: An Egyptian Study.

Published in:

2018

By:

Tomairek, Reham H.;
Amin, Maha M.;
Raafat, Karima;
Abdel Hady, Sawsan;
Elkotoury, Ahmed

Publication type:

journal article

An algorithm to identify patients aged 0–3 with rare genetic disorders.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03188-9

By:

Webb, Bryn D.;
Lau, Lisa Y.;
Tsevdos, Despina;
Shewcraft, Ryan A.;
Corrigan, David;
Shi, Lisong;
Lee, Seungwoo;
Tyler, Jonathan;
Li, Shilong;
Wang, Zichen;
Stolovitzky, Gustavo;
Edelmann, Lisa;
Chen, Rong;
Schadt, Eric E.;
Li, Li

Publication type:

Article

MINOR CONGENITAL OCULAR ANOMALIES AS SOMATIC MARKERS IN GENETIC DISORDERS.

Published in:

Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2020, v. 69, n. 4, p. 315, doi. 10.37897/RJP.2020.4.9

By:

Nemes-Dragan, Iulia-Andrada;
Dragan, Ana-Maria;
Bembea, Marius

Publication type:

Article

Genetic Hair Disorders: A Review.

Published in:

Dermatology & Therapy, 2019, v. 9, n. 3, p. 421, doi. 10.1007/s13555-019-0313-2

By:

Ahmed, Azhar;
Almohanna, Hind;
Griggs, Jacob;
Tosti, Antonella

Publication type:

Article

The Impact of Syndromic Genetic Disorders on Medical Management and Mortality in Pediatric Hypertrophic Cardiomyopathy Patients.

Published in:

Pediatric Cardiology, 2020, v. 41, n. 6, p. 1180, doi. 10.1007/s00246-020-02373-4

By:

Edelson, Jonathan B.;
Griffis, Heather;
Burstein, Danielle S.;
Zhang, Xuemei;
Rossano, Joseph W.;
Lin, Kimberly Y.;
O'Connor, Matthew J.

Publication type:

Article

Analysis of Attitude of Public Towards Prenatal Screening for Diagnosis of Genetic Disorders.

Published in:

Egyptian Academic Journal of Biological Sciences. B, Zoology, 2023, v. 15, n. 1, p. 287, doi. 10.21608/EAJBSZ.2023.306575

By:

Shoba, S. Prakash;
Anusha, V. Princy;
Varshaa, T. B.;
Anitha, C.

Publication type:

Article

Predicting Genetic Disorder and Types of Disorder Using Chain Classifier Approach.

Published in:

Genes, 2023, v. 14, n. 1, p. 71, doi. 10.3390/genes14010071

By:

Raza, Ali;
Rustam, Furqan;
Siddiqui, Hafeez Ur Rehman;
Diez, Isabel de la Torre;
Garcia-Zapirain, Begoña;
Lee, Ernesto;
Ashraf, Imran

Publication type:

Article

Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders.

Published in:

Genes, 2021, v. 12, n. 10, p. 1518, doi. 10.3390/genes12101518

By:

Bizzari, Sami;
Nair, Pratibha;
Deepthi, Asha;
Hana, Sayeeda;
Al-Ali, Mahmoud Taleb;
Megarbané, André;
El-Hayek, Stephany

Publication type:

Article

Genetic Disorders Associated with Metal Metabolism.

Published in:

Cells (2073-4409), 2019, v. 8, n. 12, p. 1598, doi. 10.3390/cells8121598

By:

Umair, Muhammad;
Alfadhel, Majid

Publication type:

Article

Detection of N-Acetylglucosamine-6-Sulfatase (GNS) Gene Mutation Causing MPS IIID Genetic Disorder in Turkey Native Goats.

Published in:

Selcuk Journal of Agriculture & Food Sciences / Selcuk Tarim ve Gida Bilimleri Dergisi, 2017, v. 31, n. 2, p. 82, doi. 10.15316/SJAFS.2017.23

By:

GEDİK, Yasemin;
KAVUNCU, Orhan

Publication type:

Article

유전성 질환에서 차세대 염기서열 분석의 임상적 활 용 및 가족 검사를 위한 제언.

Published in:

Journal of the Korean Medical Association / Taehan Uisa Hyophoe Chi, 2023, v. 66, n. 10, p. 613, doi. 10.5124/jkma.2023.66.10.613

By:

윤 지 훈;
김 만 진;
권 용 진;
채 종 희

Publication type:

Article

Association of genetic disorders and congenital malformations with premature ovarian insufficiency: a nationwide register-based study.

Published in:

Human Reproduction, 2023, v. 38, n. 6, p. 1224, doi. 10.1093/humrep/dead066

By:

Silvén, H;
Savukoski, S M;
Pesonen, P;
Pukkala, E;
Ojaniemi, M;
Gissler, M;
Suvanto, E;
Niinimäki, M

Publication type:

Article

GGDonto ontology as a knowledge-base for genetic diseases and disorders of glycan metabolism and their causative genes.

Published in:

Journal of Biomedical Semantics, 2018, v. 9, n. 1, p. N.PAG, doi. 10.1186/s13326-018-0182-0

By:

Solovieva, Elena;
Shikanai, Toshihide;
Fujita, Noriaki;
Narimatsu, Hisashi

Publication type:

Article

Exploring the role of non‐canonical splice site variants in aberrant splicing associated with reproductive genetic disorders.

Published in:

Clinical Genetics, 2024, v. 106, n. 6, p. 750, doi. 10.1111/cge.14604

By:

Zhou, Ling;
Yang, Min;
Mei, Mei;
Mai, Zhuoyao;
Li, Xiaojuan;
Deng, Kewen;
Chen, Shiyi;
Lin, Siyuan;
Li, Yinshi;
Jiang, Weilun;
Chen, Hui;
He, Zuyong;
Yuan, Ping

Publication type:

Article

Attitudes antecedent to transition to self-management of a chronic genetic disorder.

Published in:

Clinical Genetics, 2008, v. 74, n. 4, p. 325, doi. 10.1111/j.1399-0004.2008.01052.x

By:

Giarelli, E;
Bernhardt, BA;
Pyeritz, RE

Publication type:

Article

Profile of genetic disorders prevalent in northeast region of Cairo, Egypt.

Published in:

Egyptian Journal of Medical Human Genetics, 2012, v. 13, n. 1, p. 45, doi. 10.1016/j.ejmhg.2011.10.002

By:

Shawky, Rabah M.;
Elsayed, Nermine S.;
Ibrahim, Doaa S.;
Seifeldin, Neveen S.

Publication type:

Article

Applications of comparative genomic hybridization in cancer and genetic disorders: a review article.

Published in:

Tehran University Medical Journal, 2010, v. 68, n. 1, p. 1

By:

Noori-Daloii, Mohammad Reza;
Jalilian, Nazanin

Publication type:

Article

Heterogeneity in biomarkers, mitogenome and genetic disorders of the Arab population with special emphasis on large-scale whole-exome sequencing.

Published in:

Archives of Medical Science, 2023, v. 19, n. 3, p. 765, doi. 10.5114/aoms/145370

By:

Borgio, J. Francis

Publication type:

Article

Exploring The Potential Of Gene Therapy In Treating Genetic Disorders.

Published in:

Journal of Namibian Studies, 2023, v. 36, p. 67

By:

ALRAFIAH, HAMAD MOHAMMED;
HAMMAD, MOHAMMED ALI;
ALDOSARI, BANDAR HAMAD;
ALZOAIBER, IBRAHIM ABDURAHMAN;
ALJUAID, FARIS SAUD;
ALAQEEL, FAWZAN MOHAMMAD;
ALSHAMMARI, ADEL HAMMAD;
RUMAIH ALSHAMMARI, SALMAN GHAZAI;
ALSHAMMARI, NAUWAF FREAH;
FARIS AL JABBAR, ALI MUIDH;
ALMOTERY, MUNEERAH MOHAMMED;
AL MOTAIRY, MOHAMMED MOHAREB;
ALMUTAIRY, BADRIAH SAMEER;
HAMAD ALSHARAIF, SAOUD MOHAMMED;
TAEN ALANAZE, MATHAYIL MULAWWAH

Publication type:

Article

Mating practices and the dissemination of genetic disorders in domestic animals, based on the example of dog breeding.

Published in:

Animal Genetics, 2011, v. 42, n. 1, p. 66, doi. 10.1111/j.1365-2052.2010.02079.x

By:

Leroy, G.;
Baumung, R.

Publication type:

Article

Effects of consanguinity in a cohort of subjects with certain genetic disorders in Qatar.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1051

By:

Ben‐Omran, Tawfeg;
Al Ghanim, Kaltham;
Yavarna, Tarunashree;
El Akoum, Maha;
Samara, Muthanna;
Chandra, Prem;
Al‐Dewik, Nader

Publication type:

Article

Mental Health of Mothers of Children with Neurodevelopmental and Genetic Disorders in Pakistan.

Published in:

Behavioral Sciences (2076-328X), 2022, v. 12, n. 6, p. 161, doi. 10.3390/bs12060161

By:

Neoh, Michelle Jin Yee;
Airoldi, Livia;
Arshad, Zarah;
Bin Eid, Wasmiah;
Esposito, Gianluca;
Dimitriou, Dagmara

Publication type:

Article

Clinical Utility of Rapid Exome Sequencing Combined With Mitochondrial DNA Sequencing in Critically Ill Pediatric Patients With Suspected Genetic Disorders.

Published in:

Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.725259

By:

Ouyang, Xuejun;
Zhang, Yu;
Zhang, Lijuan;
Luo, Jixuan;
Zhang, Ting;
Hu, Hui;
Liu, Lin;
Zhong, Lieqiang;
Zeng, Shaoying;
Xu, Pingyi;
Bai, Zhenjiang;
Wong, Lee-Jun;
Wang, Jing;
Wang, Chunli;
Wang, Bin;
Zhang, Victor Wei

Publication type:

Article

Rare Genetic Disorders: Novel Treatment Strategies and Insights Into Human Biology.

Published in:

Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.714764

By:

Koch, Peter J.;
Koster, Maranke I.

Publication type:

Article

Exploring how mothers of a child with a genetic disorder experience their couple relationship in a low socio‐economic setting.

Published in:

Journal of Genetic Counseling, 2021, v. 30, n. 3, p. 885, doi. 10.1002/jgc4.1391

By:

Haw, Tabitha;
Henriques, Sasha

Publication type:

Article

Obstructing Sleep Apnea in Children with Genetic Disorders—A Special Need for Early Multidisciplinary Diagnosis and Treatment.

Published in:

Journal of Clinical Medicine, 2021, v. 10, n. 10, p. 2156, doi. 10.3390/jcm10102156

By:

Oros, Mihaela;
Baranga, Lucica;
Plaiasu, Vasilica;
Cozma, Sebastian R.;
Neagos, Adriana;
Paduraru, Luminita;
Necula, Violeta;
Martu, Cristian;
Dima-Cozma, Lucia Corina;
Gheorghe, Dan Cristian;
Patacchioli, Francesca Romana

Publication type:

Article

Biomarkers for genome instability in some genetic disorders: a pilot study.

Published in:

Biomarkers, 2012, v. 17, n. 3, p. 201, doi. 10.3109/1354750X.2011.651157

By:

Savina, Nataliya V.;
Smal, Marharyta P.;
Kuzhir, Tatyana D.;
Egorova, Tatyana M.;
Khurs, Olga M.;
Polityko, Anna D.;
Goncharova, Roza I.

Publication type:

Article

The Role of Cell-Free Fetal DNA as a Preventative Attempt to Decrease the Severity of Genetic Disorders: A Review.

Published in:

Medico-Legal Update, 2021, v. 21, n. 2, p. 18, doi. 10.37506/mlu.v21i2.2638

By:

Sosiawan, Agung;
Kurniati, Mala;
Pramono D., R. M. Coen;
Mulyawan, Indra;
Furqoni, Abdul Hadi;
Nuraini, Indah;
A'yun, Qurrota

Publication type:

Article

Tulburările din spectrul autist asociate cu bolile genetice. Sindromul Kleefstra.

Published in:

Journal for Neurology & Psychiatry of Child & Adolescent in Romania, 2023, v. 29, n. 2, p. 63

By:

Sprincean, Mariana;
Hadjiu, Svetlana;
Călcâi, Cornelia;
Dumitraș, Aliona;
Feghiu, Ludmila;
Grîu, Corina;
Lupușor, Nadejda;
Cuzneț, Ludmila;
Tihai, Olga;
Galbur, Viorica;
Racoviță, Stela;
Revenco, Ninel

Publication type:

Article

Diagnosis and referrals to physical therapy among caregivers of children with genetic disorders: a qualitative inquiry.

Published in:

Disability & Rehabilitation, 2024, v. 46, n. 9, p. 1815, doi. 10.1080/09638288.2023.2206164

By:

Gmmash, Afnan;
Alsobhi, Mashael;
Alzahrani, Nouran Mohammed;
Balamash, Lama Mohammed;
Alsubhi, Rahaf Mansour;
Almaddah, Muataz

Publication type:

Article

Test development, optimization and validation of a WGS pipeline for genetic disorders.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01495-x

By:

Yang, Ziying;
Yang, Xu;
Sun, Yan;
Wang, Yaoshen;
Song, Lijie;
Qiao, Zhihong;
Fang, Zhonghai;
Wang, Zhonghua;
Liu, Lipei;
Chen, Yunmei;
Yan, Saiying;
Guo, Xueqin;
Zhang, Junqing;
Fan, Chunna;
Liu, Fengxia;
Peng, Zhiyu;
Peng, Huanhuan;
Sun, Jun;
Chen, Wei

Publication type:

Article

Inter-Species Rescue of Mutant Phenotype—The Standard for Genetic Analysis of Human Genetic Disorders in Drosophila melanogaster Model.

Published in:

International Journal of Molecular Sciences, 2022, v. 23, n. 5, p. 2613, doi. 10.3390/ijms23052613

By:

Ecovoiu, Alexandru Al.;
Ratiu, Attila Cristian;
Micheu, Miruna Mihaela;
Chifiriuc, Mariana Carmen

Publication type:

Article

Detection of Morphological Abnormalities in Schizophrenia: An Important Step to Identify Associated Genetic Disorders or Etiologic Subtypes.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 17, p. 9464, doi. 10.3390/ijms22179464

By:

Priol, Anne-Clémence;
Denis, Laure;
Boulanger, Gaella;
Thépaut, Mathieu;
Geoffray, Marie-Maude;
Tordjman, Sylvie

Publication type:

Article

Awareness and attitudes of pregnant women concerning genetic disorders and pregnancy termination in northeastern Iran.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00635-5

By:

Todarbary, Nafiseh;
Irandegani, Abouzar;
Meshkat, Mojtaba;
Gholoobi, Aida;
Hamzehloei, Tayebeh

Publication type:

Article

Brief Report: Predictors of Parenting Stress Among Parents of Children With Biochemical Genetic Disorders.

Published in:

Journal of Pediatric Psychology, 2004, v. 29, n. 7, p. 565, doi. 10.1093/jpepsy/jsh058

By:

Waisbren, Susan E.;
Rones, Michelle;
Read, Catherine Y.;
Marsden, Deborah;
Levy, Harvey L.

Publication type:

Article

Survey of prenatal testing for genetic disorders in Japan: Recent report.

Published in:

Journal of Obstetrics & Gynaecology Research, 2016, v. 42, n. 4, p. 375, doi. 10.1111/jog.12948

By:

Nobuzane, Takahiro;
Yamada, Takahiro;
Miura, Kiyonori;
Sawai, Hideaki;
Masuzaki, Hideaki;
Kudo, Yoshiki

Publication type:

Article

Full Mouth Rehabilitation In Genetic Disorder Patients-A Retrospective Study.

Published in:

Turkish Online Journal of Qualitative Inquiry, 2021, v. 12, n. 5, p. 1985

By:

Hinaz, Nashwah;
V., Ashok

Publication type:

Article

Hearing the lived experience of young women with a rare genetic disorder 22q11.2DS regarding integrated care.

Published in:

2017

By:

Kerin, Lorna;
McNicholas, Fiona;
Lawlor, Aine

Publication type:

Abstract

Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes: a retrospective study.

Published in:

Journal of Assisted Reproduction & Genetics, 2024, v. 41, n. 5, p. 1245, doi. 10.1007/s10815-024-03057-1

By:

Zou, Weiwei;
Li, Min;
Wang, Xiaolei;
Lu, Hedong;
Hao, Yan;
Chen, Dawei;
Zhu, Shasha;
Ji, Dongmei;
Zhang, Zhiguo;
Zhou, Ping;
Cao, Yunxia

Publication type:

Article

Preimplantation genetic testing for monogenic disorders (PGT-M) for monogenic nephropathy: a single-center retrospective cohort analysis.

Published in:

Clinical Kidney Journal, 2025, v. 18, n. 1, p. 1, doi. 10.1093/ckj/sfae356

By:

Liu, Xinyu;
Zhang, Qian;
Cao, Kexin;
Li, Jie;
Gao, Yuan;
Xu, Peiwen;
Niu, Yuping;
Zhou, Wei;
Ni, Tianxiang;
Sun, Shuzhen;
Yan, Junhao

Publication type:

Article

Evaluating the use of parental reports to estimate health care resource utilization in children with suspected genetic disorders.

Published in:

Journal of Evaluation in Clinical Practice, 2018, v. 24, n. 2, p. 416, doi. 10.1111/jep.12876

By:

Dragojlovic, Nick;
Kim, Ellen;
Elliott, Alison M.;
CAUSES Study;
Friedman, Jan M.;
Lynd, Larry D.

Publication type:

Article

Investigation of Gait Characteristics and Kinematic Deviations in Rare Genetic Disorders with Instrumented Gait Analysis.

Published in:

Journal of Intellectual Disability Research, 2025, v. 69, n. 5, p. 383, doi. 10.1111/jir.13218

By:

Kınacı‐Biber, Esra;
Gys, Lis;
Jansen, Anna C.;
Schoonjans, An‐Sofie;
Van Dijck, Anke;
Kooy, R. Frank;
Van de Walle, Patricia;
Hallemans, Ann

Publication type:

Article

Studying Interactions, Reactions, and Perceptions: Can Genetic Disorders Serve as Behavioral Proxies?

Published in:

Journal of Autism & Developmental Disorders, 2004, v. 34, n. 1, p. 29, doi. 10.1023/B:JADD.0000018071.02942.00

By:

Hodapp, Robert M.

Publication type:

Article

Psychopharmacology in children with genetic disorders of epigenetic and chromatin regulation.

Published in:

Journal of Neurodevelopmental Disorders, 2025, v. 17, n. 1, p. 1, doi. 10.1186/s11689-025-09605-9

By:

Lenz, Sophia;
Sivaloganathan, Ajilan;
Goodman, Sarah J.;
Cytrynbaum, Cheryl;
Rapley, Jesiqua;
Canning, Emma;
Baribeau, Danielle

Publication type:

Article

Economic evaluation of next‐generation sequencing techniques in diagnosis of genetic disorders: A systematic review.

Published in:

Clinical Genetics, 2023, v. 103, n. 5, p. 513, doi. 10.1111/cge.14313

By:

Rezapour, Aziz;
Souresrafil, Aghdas;
Barzegar, Mohammad;
Sheikhy‐Chaman, Mohammadreza;
Tatarpour, Parvin

Publication type:

Article

Preimplantation genetic diagnosis to prevent genetic disorders in children.

Published in:

British Journal of Nursing, 2005, v. 14, n. 2, p. 64, doi. 10.12968/bjon.2005.14.2.17433

By:

Lashwood, Alison

Publication type:

Article

The cytoplasmic peptide: N-glycanase (Ngly1)--basic science encounters a human genetic disorder.

Published in:

Journal of Biochemistry, 2015, v. 157, n. 1, p. 23, doi. 10.1093/jb/mvu068

By:

Tadashi Suzuki

Publication type:

Article

DETERMINE OF THE PREVALENCE OF GENETIC DISORDERS IN REFERRED COUPLES TO SCREENING CENTERS OF KURDISTAN PROVINCE 2016.

Published in:

International Journal of Ecosystems & Ecology Sciences, 2017, v. 7, n. 3, p. 569

By:

Fatholahpour, Asadolah;
Khadivar, Parya;
Katorani, Shelir;
Karbasi, Golaleh

Publication type:

Article